CURRICULUM VITAE - University of Arizona · Curriculum Vitae Leslie F. Benson Page 2 EMPLOYMENT (Cont.) ... and Anne DePaepe: Lack of Linkage of Apparently Dominant Cleft Lip (Palate)

CURRICULUM VITAE

Leslie F. Benson

(Formerly Leslie F. Pettijohn)

ADDRESS: 1831 W. Ahmed

Tucson, Arizona 85704

EDUCATION:

1988 Northern Arizona University - Bachelor of Science in Biology

Cum Laude

1994 University of Arizona

Master of Science - Genetic Counseling

CERTIFICATIONS:

1996 Board certified through the American Board of Genetic Counselors

2006 / 2016 Recertification through the American Board of Genetic Counselors

AWARDS / ACHIEVEMENTS:

1987 & 1988 Junior and Senior Scholastic Awards, Dept. of Biology, NAU

1987 Phi Kappa Phi membership

EMPLOYMENT:

03/95 - Present Senior Genetic Counselor. The University of Arizona Health Network, currently

Banner University Medical Center - Tucson, Department of Obstetrics & Gynecology,

Tucson, Arizona.

Responsibilities include pre-amniocentesis, prenatal, and adult genetic counseling,

including pre-symptomatic counseling and coordination of testing for Huntington

disease; coordination and management of prenatal screening programs; teratogen

counseling; clinical supervision of genetic counseling graduate students (through

2005), participation in educational seminars, and serve as genetic information

resource to Southern Arizona. Teaching responsibilities include clinical rotations for

MFM Fellows, OB/GYN residents and medical students, Family Practice residents,

and College of Nursing students.

07/94 - 02/95 Graduate assistant to Senior Genetic Counselor. Department of

Obstetrics & Gynecology, University of Arizona, College of Medicine.

Tucson, Arizona.

Responsibilities included pre-amniocentesis and prenatal genetic

counseling, literature research assistance, data entry for regional genetics

network, teratogen hot-line responses, development and coordination of

group counseling sessions, and participation in educational seminars.

Curriculum Vitae

Leslie F. Benson

Page 2

EMPLOYMENT (Cont.)

08/92 - 07/94 Graduate research assistant. Arizona Research Laboratories, University of

Arizona, Department of Neurobiology. Tucson, Arizona.

Responsibilities included development, coordination, and assistance with

genetic experiments to gain insight into muscle development using

Drosophila as an animal model.

07/91 - 06/92 Administrative assistant/laboratory technician. Molecular genetics laboratory at

the Genetics & Invitro Fertilization Institute, Fairfax, Virginia.

Responsibilities included test coordination, patient chart management,

participation in educational seminars, data maintenance and entry, results

letters to physicians, laboratory assistance, and supplies management.

1990 Developed and coordinated summer youth program. Department of

Parks and Recreation. Camp Verde, Arizona.

APPOINTMENTS:

04/2004 Clinical Lecturer: University of Arizona, College of Medicine, Department of

Obstetrics and Gynecology

LECTURES:

02/2000 GRAND ROUNDS: presented to Department of Surgery:

Breast Cancer Genetics

04/2000 CORE Lecture presented to OB/GYN: Familial Cancer Syndromes

08/2004 to present CORE Lectures presented to OB/GYN: Prenatal Diagnosis

1996 - 2005 Multiple lectures presented to Genetic Counseling graduate students: Prenatal

Diagnosis, Perinatal Loss and Grief, Neuromuscular Disorders, Hereditary Cancer

Syndromes

SOCIETIES/MEMBERSHIPS:

1995-Present Member, National Society of Genetic Counselors

2006-2012 Member, American Society of Human Genetics

PUBLICATIONS:

John W. Pierpont, Andrea L. Storm, Robert P. Erickson, Bruce R. Kohn, Leslie

Pettijohn, and Anne DePaepe: Lack of Linkage of Apparently Dominant Cleft Lip

(Palate) to 2 Candidate Chromosomal Regions, Journal of Cranio-facial Genetics and

Developmental Biology,1995.

BIOGRAPHICAL SKETCH Provide the following information for the Senior/key personnel and other significant contributors.

Follow this format for each person. DO NOT EXCEED FOUR PAGES.

NAME

Linda L. Restifo, MD, PhD POSITION TITLE

Professor of Neurology, Neuroscience, and Cellular & Molecular Medicine

eRA COMMONS USER NAME (credential, e.g., agency login)

RESTIFO

EDUCATION/TRAINING (Begin with baccalaureate or other initial professional education, such as nursing, include postdoctoral training and residency training if applicable.)

INSTITUTION AND LOCATION DEGREE

(if applicable) YEAR(s) FIELD OF STUDY

University of Pennsylvania, Philadelphia, PA B.A. 05/78 Biology

University of Pennsylvania, Philadelphia, PA M.D. 05/84 Medicine

University of Pennsylvania, Philadelphia, PA Ph.D. 12/86 Genetics (molecular)

Morristown Memorial Hospital, Morristown, NJ internship 07/84-06/85 Internal Medicine

Harvard/Longwood Neurology Program, Boston, MA residency 07/85-06/87 Neurology

Brandeis University, Waltham, MA postdoc 07/87-10/90 Neurogenetics

A. Personal Statement [Superscripts refer to numbered publications in section C]

My research goal is to make developmental brain disorders treatable with safe and effective drugs that enhance cognitive function and reduce dysfunctional behaviors3. A parallel teaching and mentoring goal is to improve the communication between clinicians and scientists so that they can learn from each other6. This professional trajectory started during my Neurology residency in the mid-1980s, when intellectual disabilities (ID) were considered “fixed deficits.” As the Drosophila and human genome-sequencing projects released their data, I recognized how much more could be done to translate developmental neuroscience into disease therapeutics. Beginning with my 2003 research seminars, I proposed the use of the Drosophila model system and primary neuron culture as stepping stones to drug discovery for ID. In 2004 we published the first comprehensive bioinformatics analysis of human ID genes and demonstrated their remarkable phylogenetic conservation between humans and fruit flies2. Over the next decade, I re-directed my research program from its basic-science orientation (genetic and hormonal control of brain remodeling during metamorphosis in the fruit fly D. melanogaster11,12,13) toward a translational focus on developmental brain disorders. By modeling ID disorders in Drosophila3,14, my research team is discovering abnormalities in brain and neuronal structure1,4,8 caused by genetic mutations and environmental toxins which, in turn, can cause cognitive or behavioral deficits. We designed simple bioassays8 and, with computer science colleagues, flexible software4,5, for screening chemical compounds that modify cellular phenotypes. Our proof-of-concept drug screen using primary cultured neurons yielded very encouraging results8, including structure-activity relationship hypotheses and preliminary cross-species validation data. A serious health crisis reduced my productivity for several years. Nonetheless, I embarked on a collaboration with Dr. Michael Hammer’s human genetics group to use genomic sequence data from families for molecular diagnosis of children with severe epilepsy or other disorders7,9. My role in these ongoing studies is to help identify the causative genetic variants and, more generally, to serve as a bridge between the scientists and physicians6. To facilitate these activities, I moved my faculty position and my laboratory research program to the College of Medicine. With my health restored, I am re-dedicating my efforts to drug discovery for ID, including technology development to facilitate high-throughput screening of primary neuronal cultures10.

B. Positions and Honors

Positions and Employment 1990-2013: Assistant Professor, Associate Professor, Professor (with tenure), Dept. of Neuroscience [previously ARL Division of Neurobiology], University of Arizona, Tucson, AZ Department of Neurology, University of Arizona College of Medicine, Tucson, AZ 2006-present: Faculty member, BIO5 Interdisciplinary Research Institute, U. of Arizona 2006-present: Faculty member, Evelyn F. McKnight Brain Institute, U. of Arizona 2008-present: Professor, Dept. of Cellular & Molecular Medicine, U. of Arizona College of Medicine 2013 Transfer of primary appointment (with tenure) to Dept. of Neurology (College of Medicine)

from Dept. of Neuroscience (College of Science), University of Arizona, Tucson, AZ 2013-present: Faculty member, Sarver Heart Center, Arizona Health Sciences Center, Tucson, AZ

2013-present: Faculty member, Steele Memorial Children’s Research Center, Tucson, AZ

Other Professional Experience and Memberships 1991-present: Member, AAAS, Genetics Society of America, Society for Neuroscience 1991-present: Manuscript reviewer for: Am J Hum Genet, Autism Res & Treatment, Brain Res, Cell Tiss

Res, Cell Death Differen, Cell Mol Life Sci, Cell Mol Neurobiol, Development, Dev Biol, Dev Genet, Dev Neurosci, Dis Model Mech, Eur J Entomol, Genetics, G3 Genes Genomes Genetics, Hum Molec Genet, Insect Biochem, Insect Biochem Mol Biol, J Comp Neurol, J Comp Physiol A, J Neurobiol, J Neurosci, Mol Biol Evol, Nature, Neurobiol Dis, Oncogene, PLoS-Genetics, Proc Natl Acad Sci, Tohoku J Exp Med; McGraw-Hill and Garland textbook reviews

1993-2015: Medical License, Arizona No. 21336 (now retired) 1994-1999: Instructor, Cold Spring Harbor Laboratory summer course, "Neurobiology of Drosophila" 1998: NSF grant review panel member, Developmental Neurobiology 1998-2003: NIH study section member, MDCN-7, later renamed NDPR (ad hoc thereafter) 2009, 2011: Autism Speaks grant review panel member (Basic & Clinical Research) 2010-2011: Organizing Committee, Sixth International Symposium on Molecular Insect Science 2011-2013: Promotion and Tenure Committee, College of Science, U. of Arizona 2011-present: Executive Committee, Arizona Center for Biology of Complex Disease 2012-2013: Co-Organizer of 2013 Neurobiology of Drosophila conference at Cold Spring Harbor Labs 2013-2014: Organizing Committee, Seventh International Symposium on Molecular Insect Science 2014-2015: NIH Study Section, ZRG F03B-D (individual fellowships: F30, F31, F32)

Innovation 2006-present: 5 Invention Disclosures filed at University of Arizona 2014: U.S. Patent 8,785,149 issued: “In Vitro Cellular Bioassay For Neurotoxicity Testing” 2015: International patent application filed, PCT/US15/63978, with co-inventors Jiang and Zohar: "Systems for dissociation of biological tissues"

Honors and Awards 1977: University Scholar, University of Pennsylvania (submatriculation to MD/PhD program) 1978-1984: NIH-funded Medical Scientist Training Program (MSTP) fellowship 1983: elected to Alpha Omega Alpha, the national medical honor society 1985: Outstanding House Officer Award, Morristown Memorial Hospital 1987: Muscular Dystrophy Association Postdoctoral Fellowship 1988-1990: NIH-funded Clinical Investigator Development Award (predecessor to K08) 1991-1995: John Merck Fund Scholarship, Biology of Developmental Disabilities in Children 1992-1997: NINDS FIRST Award 2008: Grass Foundation Lecturer, East Coast Nerve Net 2010: elected to Hall of Fame, Philadelphia High School for Girls, an all-city college-prep school

C. Selected peer-reviewed publications

Most relevant to the current application (in forward chronological order)

1. Michel CI, R Kraft, and LL Restifo (2004). Defective neuronal development in the mushroom bodies of Drosophila fragile X mental retardation 1 (dfmr1) mutants. J Neurosci 24:5798-5809. PMID: 15215302

2. Inlow JK, and LL Restifo (2004). Molecular and comparative genetics of mental retardation. Genetics 166:835-881. PMID: 15020472

3. Restifo LL (2005). Mental retardation genes in Drosophila: new approaches to understanding and treating developmental brain disorders. Ment Retard Dev Disabilities Res Rev 11:286-294. PMID: 16240406

4. Kraft R, MM Escobar, ML Narro, JL Kurtis, A Efrat, K Barnard, and LL Restifo (2006). Phenotypes of Drosophila brain neurons in primary culture reveal a role for fascin in neurite shape and trajectory. J Neurosci 26:8734-8747. PMID: 16928862

5. Narro ML, F Yang, R Kraft, C Wenk, A Efrat and LL Restifo (2007). NeuronMetrics: software for semi-automated processing of cultured-neuron images. Brain Research 1138:57-75. PMID: 17270152

6. Restifo LL and GR Phelan (2011). The cultural divide: exploring communication barriers between scientists and clinicians. Disease Models & Mechanisms 4:423-426. PMID: 21708897

http://patents.justia.com/inventor/linda-l-restifo

http://www.ncbi.nlm.nih.gov/pubmed?term=15215302






7. Veeramah KR, O’Brien JE, Meisler MH, Cheng X, Dib-Hajj SD, Waxman SG, Talwar D, Girirajan S, Eichler EE, Restifo LL, Erickson RP and Hammer MF (2012). De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP. Am Journal Hum Genet 90:502-510. PMID: 22365152

8. Kraft R, A Kahn, JL Medina-Franco, M Orlowski, C Baynes, F Lopez-Vallejo, K Barnard, GM Maggiora, and LL Restifo (2013). A cell-based fascin bioassay identifies compounds with potential anti-metastasis or cognition-enhancing functions. Disease Models & Mechanisms 6:217-235. PMID: 22917928

9. Veeramah KR, Johnstone L, Karafet TM, Wolf D, Sprissler R, Salogiannis J, Barth-Maron A, Greenberg ME, Stuhlmann T, Weinert S, Jentsch TJ, Pazzi M, Restifo LL, Talwar D, Erickson RP, Hammer MF (2013). Exome sequencing reveals new causal mutations in children with epileptic encephalopathies. Epilepsia 54:1270-1281. PMID: 23647072

10. Jiang L, Kraft R, Restifo LL, and Zohar Y (2015). Dissociation of brain tissue into viable single neurons in a microfluidic device. IEEE Nano/Molecular Medicine and Engineering 9:29-32.

Additional publications of importance to the field (in forward chronological order)

11. Kraft, R, RB Levine, and LL Restifo (1998). The steroid hormone 20-hydroxyecdysone enhances neurite growth of Drosophila mushroom body neurons isolated during metamorphosis. J Neurosci 18:8886-8899. PMID: 9786994

12. Consoulas C, RB Levine and LL Restifo (2005). The steroid hormone-regulated gene Broad Complex is required for dendritic growth of motoneurons during metamorphosis of Drosophila. J Comp Neurol 485:321-337. PMID: 15803508

13. Spokony RF and LL Restifo (2009). Broad Complex isoforms have unique distributions during central nervous system metamorphosis in Drosophila melanogaster. J Comp Neurol 517:15-36. PMID: 19711379

14. Halladay A, Amaral D, Achsner M, Bolivar V, Bowman A, DiCicco-Bloom E, Hyman S, Keller F, Lein P, Pessah I, Restifo LL, and Threadgill D (2009). Animal models of autism spectrum disorders: information for neurotoxicologists. NeuroToxicology 30:811-821. PMID: 19596370

15. Restifo LL and GR Phelan (2011). The Cultural Divide: exploring communication barriers between scientists and clinicians. Disease Models & Mechanisms 4:423-426. PMID: 21708897

16. Ito K, Shinomiya K, Ito M, Armstrong JD, Boyan G, Hartenstein V, Harzsch S, Heisenberg M, Homberg U, Jenett A, Keshishian H, Restifo LL, Rössler W, Simpson J, Strausfeld NJ, Strauss R , and Vosshall LB (2014). A coordinated nomenclature for the insect brain. Neuron 81:755-765. PMID: 24559671

17. Smrt RD, Lewis SA, Kraft R, and LL Restifo (2015). Primary neuronal culture of Drosophila larval neurons, with morphological analysis using NeuronMetrics. Drosophila Information Service 98:125-140.

Manuscripts close to submission

Lewis SA, O’Neill LA, and LL Restifo. Selective regulation of appendage and mushroom body morphogenesis by Drosophila Pak (p21-activated kinase). Manuscript in preparation.

Lewis SA and LL Restifo. Pak (p21-activated kinase) regulates neurite arbor size and brain structure morphology with apparent roles in branch stability and inhibition of myosin regulatory light chain phosphorylation. Manuscript in preparation.

Brecker DA, Veeramah KR, Meisler MH, Hammer MF, Restifo LL, and PK Todd. Exome sequencing reveals candidate modifier genes for hemiplegic migraine due to dominant ATP1A2 mutations. Manuscript in revision.

K Scherer, Day WA, Miller J, Andrew DR, Montfort W, Hammer MF, and LL Restifo. A sporadic case of severe peripheral neuropathy expands the phenotypic range of TUBB2A mutations. Manuscript in preparation.

Day WA, Kraft R, and LL Restifo. Evidence for non-cell-autonomous function of Drosophila fragile X mental retardation 1 (dfmr1) during mushroom body development. Manuscript in preparation.

D. Research Support

Recent Research Support

Proof-of-Concept Award Restifo, Zohar, and Jiang (co-PIs) TechLaunch Arizona 01/01/15 – 08/31/15

http://www.ncbi.nlm.nih.gov/pubmed/22365152









“Automated micro-scale tissue dissociation: technology improvement and validation” The goal of this interdisciplinary project was to expand the capabilities of a simple prototype microfluidic

device to be able to dissociate a wider range of brain and other soft tissues. The longer-term goal is commercialization so that primary culture, of neurons in particular, can be used for high-throughput screening. A patent application was filed based on the data obtained.

Role: co-PI Cardiovascular Research Award Restifo (PI) Sarver Heart Center (U. of Arizona) 07/01/13 – 06/30/15 “Personalized Medicine for Hypercholesterolemia: development of biomarkers for statin neurotoxicity” The goal of this project was to use statin-associated adverse events reported to the FDA, in conjunction

with Drosophila genetics, to infer candidate human genes that control the risk of statin-induced neurological side effects. Data thus far point to genes essential for neuronal cytoskeletal function. The long-term goal is to determine which genetic variants predict human susceptibility to statin neurotoxicity.

Role: PI Innovation Seed Grant Zohar, Jiang, & Restifo (co-PIs) BIO5 Interdisciplinary Research Institute (U. of Arizona) 07/01/12 – 06/30/13 "A microfluidic system for automated dissociation of viable neurons from brain tissue" The goal of this project was to optimize microfluidic parameters for brain-tissue dissociation with the

long-term goal of moving primary neuron culture-based screening to a high-throughput platform. Data collected during this phase of the project were used in a provisional patent application that was subsequently converted for a full application in 2015.

Role: co-PI (co-PIs Drs. Yitshak Zohar and Linan Jiang are experts in microfluidics and microsystems.) Pilot Grant Restifo (PI) Autism Speaks 01/01/09 – 06/30/11 "A novel cell-based assay for autism research and drug discovery" This project focused on three Drosophila genes, encoding neurexin or neuroligin family members, whose

mutant human counterparts can cause autism, either alone or as part of a syndrome. The goals of this proof-of-principle study were to identify brain and/or neuronal phenotypes resulting from Drosophila gene mutations, in particular phenotypes that are amenable to drug screening. For one of the genes, we identified excessive neurite-arbor branching as a mutant phenotype that is specific to neurons from a learning-and-memory center in the fruit fly brain.

Role: PI

Training Grants and Other Funding

R13NS084579 Stewart, D (PI) NIH/NINDS 09/01/13 – 08/31/14 “CSHL Neurobiology of Drosophila” Role: Conference Co-Organizer (with Tom 2K12GM000708 Strausfeld, NJ (PI) 08/01/11 – 07/31/18 NIH/NIGMS “Postdoctoral Excellence in Research and Teaching” This is a longstanding training grant, in which the postdocs receive research training in laboratories at

University of Arizona, as well as formal training in teaching at a local minority-serving community college.

Role: one of 12 research-training faculty

Christina Marie Laukaitis Curriculum Vitae Page 1

Date of CV 04/2016

CURRICULUM VITAE

Christina Marie Laukaitis, M.D., Ph.D., FACP, FACMGG

PERSONAL INFORMATION

Date of Birth: 07/25/1973

Place of Birth: Denver, CO USA

Citizenship: USA

Home address and telephone:

6940 N. Stardust Circle

Tucson, AZ 85718

(520)219-8440

[email protected]

Professional address and telephone:

University of Arizona

1501 N. Campbell Ave.

PO Box 245036

Tucson, AZ 85724

(520)626-5845

CHRONOLOGY OF EDUCATION

08/91-06/95 B.S. Biology, B.S. Chemistry, Honors Program, Butler University, Indianapolis,

IN Honors: “Mouse salivary androgen protein mediates mate selection behavior”

07/95-05/01 Ph.D. Department of Cell and Structural Biology, University of Illinois, Urbana,

IL “Differential dynamics of 5 integrin, paxillin, and -actinin during formation

and disassembly of adhesions in migrating cells.” Advisor: Rick Horwitz

08/99-05/03 M.D. University of Illinois Chicago College of Medicine, Urbana-Champaign

Campus, Urbana, IL

06/03-07/03 Visiting researcher, Oxford University, Oxford, UK

07/03-06/04 Intern, Internal Medicine Residency, St. Vincent Hospital, Indianapolis, IN

06/04-06/06 Resident, Internal Medicine Residency Program, St. Vincent Hospital,

Indianapolis, IN

06/05-07/05 Summer Institute in Statistical Genetics, North Carolina State University, Raleigh,

NC (Basic statistics, Genetic data analysis, Molecular phylogenetics)

06/06-09/06 Locum tenens clinical practice

09/06-08/08 Fellow, Division of Medical Genetics, University of Washington, Seattle, WA

01/11 Association of Specialty Professors/T. Franklin Williams Scholars Program

meeting, Washington D.C.

09/14-06/15 Learning to Lead Faculty Leadership Program, University of Arizona College of

Medicine, Tucson, AZ[cml1]

mailto:[email protected]


Date of CV 04/2016

Board Certifications and Licenses

07/2008-present Physician license #40539, State of Arizona

11/2006 Diplomate, American Board of Internal Medicine (recertification 11/2015)

10/2009 Diplomate, American Board of Medical Genetics

03/2011-present Fellow, American College of Physicians

01/2015-present Fellow, American College of Medical Genetics

PRESENT POSITION Assistant Professor of Medicine, Tenure Eligible

Division of Geriatrics, General Internal Medicine and Palliative Medicine

Department of Medicine

University of Arizona College of Medicine, Tucson, AZ

Assistant Professor (Joint Appointment)

Department of Nutritional Sciences

University of Arizona, Tucson, AZ

Member

University of Arizona Cancer Center


Member

Southwest Environmental Health Sciences Center

College of Pharmacy


Director

Genetic Consultation and Counseling Services

Center for Applied Genetics and Genomic Medicine


CHRONOLOGY OF EMPLOYMENT

06/92-08/92 Summer Intern, U.S. Department of Agriculture, Maquoketa, IA

08/92-06/93 Resident Assistant, Office of Student Affairs, Butler University, Indianapolis, IN

2003, 2004 Butler Summer Institute Research Student, Butler University, Indianapolis, IN

08/93-06/94 Staff Assistant, Office of Student Affairs, Butler University, Indianapolis, IN

08/94-06/95 Resident Assistant, Office of Student Affairs, Butler University, Indianapolis, IN


Date of CV 04/2016

07/95-08/97 Graduate Assistant, Dept. of Cell & Structural Biology, University of Illinois,

Urbana, IL

08/97-05/98 Teaching Assistant, Intro. to Cell & Molecular Biology, University of Illinois,

Urbana, IL

05/98-08/00 Graduate Assistant, Dept. of Cell & Structural Biology, University of Illinois,

Urbana, IL

08/00-12/00 Teaching Assistant, Medical Microbiology Laboratory, University of Illinois,

Urbana, IL

01/01-05/01 Teaching Assistant, Medical Neuroscience Laboratory, University of Illinois,

Urbana, IL

07/06-08/06 Locum tenens physician, Hopi Health Care Center, Polacca, AZ

09/08— Physician, University Physicians Health, Tucson, AZ

09/08-08/10 Assistant Professor, Clinical Medicine, Deptartment of Medicine, University of

Arizona, Tucson, AZ

09/08-01/14 Associate Investigator, Arizona Cancer Center, Tucson, AZ

03/09-present Member, Genetics Graduate Interdisciplinary Training Program, University of

Arizona, Tucson, AZ

07/09-present Member, Cancer Biology Interdisciplinary Training Program, University of

Arizona, Tucson, AZ

09/10-present Assistant Professor of Medicine, Tenure Eligible, Dept. of Medicine, University

of Arizona, Tucson, AZ

03/10-12/12 Medical Director, University Medical Center Home Health, University of

Arizona, Tucson, AZ

07/10-06/13 Clinical Director, Coagulation Clinic, Department of Medicine, University of

Arizona, Tucson, AZ

10/12-12/13 Associate Program Director, Internal Medicine Residency Program, University of

Arizona, Tucson, AZ

01/14-present Member, Southwest Environmental Health Sciences Center, College of

Pharmacy, University of Arizona, Tucson, AZ

01/14-present Member, University of Arizona Cancer Center, Tucson, AZ

03/14-08/15 Laboratory Co-Director, Clinical Laboratory of the University of Arizona

Genomics Core, Tucson, AZ


Date of CV 04/2016

HONORS AND AWARDS

08/91-06/95 National Science Scholar

Spring 1998 Outstanding Cellular and Molecular Biology Teaching Assistant, University of

Illinois, Urbana, IL

Spring 1998 “Teaching Assistants Rated ‘Excellent’ by their Students” list, University of


Fall 2000 “Teaching Assistants Rated ‘Excellent’ by their Students” list, University of


06/2003 AMWA Janet Glasgow Memorial Award, University of Illinois College of

Medicine, Urbana, IL

04/2005 Indiana Chapter American College of Physicians Research poster winner,

sponsored presentation at ACP Annual Meeting, Indianapolis, IN

06/2006 Resident’s Research Award, St. Vincent Hospital, Indianapolis, IN

03/2011 Yellen Distinguished Young Investigator Award, Arizona Cancer Center;

unrestricted use gift, Tucson, AZ

10/2011 40 under 40, Arizona Star, recognizes young leaders in Tucson based on

professional accomplishments, leadership qualities and community impact

11/13 “Researcher of the Year”, Arizona Chapter, American College of Physicians

SERVICE/OUTREACH

Local/State outreach

11/08-presentArizona State Genetic Services Advisory Committee

09/10 Judge, American College of Physicians Arizona Chapter Meeting, Phoenix, AZ

10/11 Judge, American College of Physicians Arizona Chapter Meeting, Tucson, AZ

12/11 “Cancer 101” 8-hour workshop of cancer pathology, risk factors, treatment and

support; Hopi Tribe Community Health Workers, Hopi Cancer Support Services,

Kykotsmovi, AZ

09/15 “Cancer 101” 5-hour workshop of cancer pathology, risk factors, treatment and

support, Navajo Tribe Community Health Workers and Kayenta Area Public

Health Nurses, Kayenta, AZ [cml2]

National/international outreach

10/10-09/11 Butler Young Alumni Board, Butler University, Indianapolis, IN


Date of CV 04/2016

09/12-present Southwest Oncology Group (SWOG)

09/14-present Board Member, Friends of Hubbel Trading Post National Historic Site, gives

>$25,000 in scholarships annually to Native American students

College committees

09/09-present Multidisciplinary Endocrine Tumor Board, University of Arizona College of

Medicine, Tucson, AZ

09/11-present Organizer, Genetics & Genomics Grand Rounds, Univesity of Arizona College

of Medicine, Tucson, AZ

10/12-12/14 Internal Medicine Residency Competency Evaluation Committee, Univesity of

Arizona College of Medicine, Tucson, AZ

08/13-present MD/PhD Program Admissions Committee, University of Arizona College of

Medicine, Tucson, AZ

08/15-present Ad Hoc Member, Scientific Review Committee, University of Arizona Cancer

Center, Tucson, AZ

09/15-present Member, Cancer Committee, University of Arizona Cancer Center, Tucson, AZ

University committees

05/13-11/13 Genomic Clinical Services Task Force, University of Arizona, Tucson, AZ

07/13-10/14 Genomic Medical Review Board, University of Arizona, Tucson, AZ

11/13-04/14 AHSC Precision Health Advisory Council, University of Arizona, Tucson, AZ

09/15-present Molecular Oncology Tumor Board, University of Arizona, Tucson, AZ

Other service

06/15-present Specialist advisor for nomenclature of the Secretoglobin superfamily, Human

Genome Nomenclature Committee

2015 Ad hoc Advisor for rare disease prescribing, Banner Population Pharmacy

2015 & 2016 Ad hoc Reviewer, PLoS One

2014 & 2015 Ad hoc Reviewer, BMC Genomics

2015 Ad hoc Reviewer, Molecular Carcinogenesis

2014 Ad hoc Reviewer, Gut

2013 Ad hoc Reviewer, Cancer Epidemiology, Prevention, and Biomarkers

2013 Ad hoc Reviewer, Grant Program of the Czech Science Foundation


Date of CV 04/2016

PUBLICATIONS (in order by date; most important publications are italicized)

Chapters in scholarly books and monographs

1. Lazarowitz, S.G., Ward, B.M., Sanderfoot, A.A., and Laukaitis, C.M. (1997) *“Intercellular

and intracellular trafficking: What we can learn from Geminivirus movement” in Cellular

Integration of Signalling Pathways in Plant Development. NATO ASI Series. Series H: Cell

Biology, Vol. 104, Springer-Verlag, Berlin, Germany.

2. Laukaitis, C.M., and Karn, R.C. (2012) “Recognition of subspecies status in the evolution of

incipient reinforcement on the European house mouse hybrid zone” in Evolution of the

House Mouse (Eds. M. Macholán et al.), Cambridge University Press, Cambridge, UK.

3. Thompson, P.A., Stopeck, A. and Laukaitis, C.M. (2013) “Breast cancer prevention” in

Fundamentals of Cancer Prevention, Ed. 3 (Eds. D. Alberts and L. Hess), Springer-Verlag,

Berlin, Germany.

Refereed journal articles

1. Laukaitis, C.M., Critser, E.S. and Karn, R.C. (1997) *Salivary androgen-binding protein

(ABP) mediates sexual isolation in Mus Musculus. Evolution.51(16): 2000-2005.

2. Knight, B., Laukaitis, C.M., Akhtar, N., Hotchin, N.A., Edlund, M. and Horwitz, A.R.

(2000) *Visualizing cell migration in situ. Current Biology. 10: 576-585. PMID: 10837222

3. Laukaitis, C.M., Donais, K., Webb, D.J., and Horwitz, A.F. (2001) *Differential dynamics of

5 integrin, paxillin, and -actinin during formation and disassembly of adhesions in

migrating cells. Journal of Cell Biology. 153(7):1427-1440. PMID: 11425873

4. Talley, H.M., Laukaitis, C.M., Karn, R.C. (2001) *Female preference for male saliva:

Implications for sexual isolation of Mus musculus subspecies. Evolution. 55(3): 631-634.

PMID: 11327170

5. Laukaitis, C.M., Dlouhy, S.R., and Karn, R.C. (2003) The mouse salivary androgen-binding

protein (ABP) gene cluster on chromosome 7: Characterization and evolutionary

relationships. Mammalian Genome. 14:679-691. PMID: 14694904

6. Karn, R.C. and Laukaitis, C.M. (2003) Characterization of two forms of mouse salivary

androgen-binding protein (ABP): Implications for evolutionary relationships and ligand-

binding function. Biochemistry. 42(23):7162-7170. PMID: 12795612

7. Emes, R.D., Riley, M.C., Laukaitis, C.M., Goodstadt, L., Karn, R.C., and Ponting, C.P.

(2004) Rapid duplication and sequence diversification within the rodent androgen-binding

protein (ABP) gene cluster. Genome Research. 14(8):1516-1529. PMID: 15256509

8. Laukaitis, C.M., Dlouhy, S.R., Emes, R.D., Ponting, C.P., and Karn, R.C. (2005) Diverse

spatial, temporal, and sexual expression of recently duplicated androgen-binding protein

genes in Mus musculus. BMC Evolutionary Biology. 5:40. PMID: 16018816

9. Laukaitis, C.M. and Karn, R.C. (2005) Evolution of the secretoglobins: A genomic and

proteomic view. Biological Journal of the Linnean Society. 84:493-501.


Date of CV 04/2016

10. Laukaitis, C.M., Heger, A., Blakley, T.D., Munclinger, P., Ponting, C.P., and Karn, R.C.

(2008) Rapid bursts of Abp gene duplication occurred independently in diverse mammals.

BMC Evolutionary Biology. 8:46. PMID: 18269759

11. Karn, R.C. and Laukaitis, C.M. (2009) The mechanism of expansion and the volatility it

created in three pheromone gene clusters in the mouse genome. Genome Biology and

Evolution. 2009:494-503. PMID: 20333217

12. Karn, R.C., Young, J.M., and Laukaitis, C.M. (2010) A candidate Mus muculus subspecies

discrimination system involving a V1R gene with different alleles fixed in M. m. domesticus

and M. m. musculus. PLOS One. 5(9):e12638. PMID: 20844586

13. Vošlajerová Bímová, B., Macholán, M., Baird, S.E.B., Munclinger, P., Laukaitis, C.M.,

Karn, R.C., Luzynski, K., Tucker, P., Piálek, J. (2011) Reinforcement selection acting on the

European house mouse hybrid zone. Molecular Ecology. 20(11):2403-2424. PMID:

21521395

14. Zhou, X., Wei, Y., Xie, F., Laukaitis, C.M., Karn, R.C., Kluetzman, K., Gu, J., Zhang, Q-

Y., Roberts, D.W., and Ding, X. (2011) A Novel Defensive Mechanism against

Acetaminophen Toxicity in the Mouse Lateral Nasal Gland: Role of CYP2A5-mediated

regulation of testosterone homeostasis and salivary Androgen-binding protein Expression.

Molecular Toxicology. 79(4):710-723. PMID: 21252290

15. Karn, R.C. and Laukaitis, C.M. (2011) Positive selection shaped the convergent evolution of

independently expanded kallikrein subfamilies expressed in mouse and rat saliva proteomes.

PLoS One. 6(6):e20979. PMID: 21695125

16. Karn, R.C., Mauss, C. and Laukaitis, C.M. (2012) Congenic strain analysis reveals genes

that are rapidly evolving components of a prezygotic isolation mediating incipient

reinforcement. PLoS One. 7(4):e35898. PMID: 22558260

17. Karn R.C., Laukaitis C.M. (2012) The roles of gene duplication, gene conversion and

positive selection in rodent Esp and Mup pheromone gene families with comparison to the

Abp family. PLoS One. 7(10):e47697. PMID: 23094077

18. Nelson-Moseke, A.C*, Jeter, J.M., Cui, A., Roe, D.J., Chambers, S.K., and Laukaitis, C.M.

(2013) An Unusual BRCA Mutation Distribution in a High Risk Cancer Genetics Clinic.

Familial Cancer. 12(1):83-87. PMID: 23179792. *Mentored resident is primary author

19. Janoušek V.*, Karn R.C., Laukaitis C.M. (2013) The role of retrotransposons in gene family

expansions: insights from the mouse Abp gene family. BMC Evol Biol. 13:107. PMID:

23718880. Highly-accessed manuscript; *Mentored graduate student is primary author.

20. Karn, R.C., Chung, A.G.*, Laukaitis, C.M. (2013) Shared and unique proteins in human,

mouse and rat saliva proteomes: Footprints of functional adaptation. Proteomes. 1(3):275-89.

PMID: 249264338. *Mentored undergraduate student is co-author.

21. Karn RC, Laukaitis CM. (14) Selection shaped the evolution of mouse androgen-binding

protein (ABP) function and promoted the duplication of Abp genes. Biochem Soc Trans.

42(4):851-60. PMID: 25109968


Date of CV 04/2016

22. Karn, R.C., Chung, A.G.*, Laukaitis, C.M. (14) Did androgen-binding protein paralogs

undergo neo- and/or sub-functionalization as the Abp gene region expanded in the mouse

genome? PLoS One. 9(12):e115454. PMID: 25531410 *Mentored undergraduate student is

co-author

23. Burton, B.K., Balwani, M., Feillet, F., Barić, I., Burrow, T.A., Camarena Grande, C., Coker,

M., Consuelo-Sánchez, A., Gómez, G., Deegan, P., Di Rocco, M., Enns, G.M., Erbe, R.,

Ezgu,F., Ficicioglu, C., Furuya, K.N., Kane, J., Laukaitis, C., Mengel, E., Neilan, E.,

Nightingale, A.S., Peters, H., Scarpa, M., Otfried, K., Smolka, S., Valayannopoulos, V.,

Wood, M., Goodman, Z., Yang, Y., Eckert, S., Rojas-Caro, S., Quinn, A.G. (2015) A Phase 3

Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency. New England Journal of

Medicine 373(11):1010-20. PMID: 26352813

24. Karn, R.C., Laukaitis, C.M. (2015) Comparative Proteomics of Mouse Tears and Saliva:

Evidence from Large Protein Families for Functional Adaptation. Proteomes 3(3):283-297.

25. Huynh, J.M.*, Laukaitis, C.M. (2015) Panel testing reveals nonsense and missense CDH1

mutations in families without Hereditary Diffuse Gastric Cancer. Medical Genetics and

Genomic Medicine (In Press). *Mentored graduate student is co-author

26. Romagnolo, D.F, Papoutsis, A.J., Laukaitis, C.M. Selmin, O.I. (2015) Constitutive

expression of AhR and BRCA-1 promoter CpG hypermethylation as biomarkers of ERα-

negative breast tumorigenesis. BMC Cancer (In Press).

Reviews (Peer-reviewed prior to publication)

1. Laukaitis, C.M. and Gerner, E.W. (2011) DFMO: Targeted Risk Reduction Therapy. Best

Practice and Research: Clinical Gastroenterology 25(4-5):495-506. PMID: 22122766

2. Laukaitis, C.M. (2012) Genetics for the General Internist. American Journal of Medicine

125(1):7-13. PMID: 22079017

3. Laukaitis, C.M., Erdman, S.H. and Gerner, E.W. (2012) Chemoprevention in patients with

genetic risk of colorectal cancers. Colorectal Cancer 1(3):241-256. PMID: 25221625

WORKS IN PROGRESS

1. Janoušek V., Yanchukov, A., Karn R.C., Laukaitis C.M., Lineage-specific gene family

expansions are associated with characteristic repeat element content in the human and mouse

genomes (under review)

2. Chung, A.C., Belone, P., Mauss, C.M., Karn, R.C., and Laukaitis, C.M., Characterization of

an ABP Knockout Mouse Line (anticipated Spring 2016 submission)

3. Urquijo, M., Mauss, C., and Laukaitis, C.M., GALNT12 as a rare cause of early colorectal

cancer (anticipated Spring 2016 submission)

4. Laukaitis, C.M., Chaudhury, A., Mauss, C., Mauss, C., Walsh, T., Daneri Navarro, A., King,

M-C., Thompson, P., Frequent BRCA1/2 Mutations Found in Mexican & Mexican-American

Women with Breast Cancer, (anticipated Summer 2016 submission)


Date of CV 04/2016

5. Severson, S., Kelly, M., and Laukaitis, C.M., Two TMEM67 VUS in a patient with the

COACH variant of Joubert syndrome (anticipated Summer 2016 submission)

6. Laukaitis, C.M., and Karn, R.C., Nomenclature of the ABP gene family, a member of the

secretoglobin superfamily (anticipated Summer 2016 submission)

SCHOLARLY PRESENTATIONS

Invited presentations at regional/national/international meetings

05/03 Invited Presentation. 4th European Congress of Mammalogy, “Evolution of the

secretoglogins: A new family of mammalian proteins” Brno, Czech Republic

04/08 Invited Presentation. 1st International Conference of Wild Mouse Genetics, “Rapid

bursts of Abp gene duplication in rodents and other mammals” Max Planck

Institute for Evolutionary Biology, Plön, Germany

02/12 Invited Presentation. Indian Health Service Midwinter Conference on Women’s

and Children’s Healthcare, “Hereditary Cancer Syndromes, Maternal and Pediatric

Considerations” Telluride, CO

06/12 Invited Presentation. Navajo Nation Cancer Conference, Pre-meeting for health care

professionals “Clinical Trials of Cancer Prevention” Window Rock, AZ

07/12 Invited Presentation. Pathfinders Summer Institute, Native Research Network

“Cancer Basics”, “Cancer Types and Treatments” and “Cancer Prevention” Seattle,

WA

04/13 Invited Presentation. 22nd Annual Southwestern Conference on Medicine, “Genetic

Testing for the Primary Care Physician” Tucson, AZ

06/13 Invited Presentation. Pathfinders Summer Institute, “Cancer BASICS” Tucson, AZ

08/13 Invited Presentation. International Society for Inherited Gastrointestinal Tumors

Semi-annual Meeting, “Seeking genes that predict desmoid formation in patients

with familial adenomatous polyposis” Cairns, Australia

05/14 Invited Presentation. 2nd International Conference of Wild Mouse Genetics,

“Selection shaped the evolution of mouse androgen-binding protein (ABP) function

and promoted the duplication of Abp genes” Max Planck Institute for Evolutionary

Biology, Plön, Germany

03/15 Invited Presentation. Mendel Forum 2015, “Mendelian Genetics: an historical

perspective and a glimpse into the future”. Centrum Mendelianum, Brno, Czech

Republic

Colloquia


Date of CV 04/2016

04/09 Public lecture. “Live smarter: Cancer Genetics and You”, Flandrau Science Café,


01/10 Public lecture. “Breast cancer risk assessment & chemoprevention”, Cancer in the

Family Conference, Tucson, AZ

02/10 Public lecture. “Assessing your cancer risk based on family history” University of

Arizona Cancer Center Lecture Series, Green Valley, AZ

03/10 Public lecture. “Assessing your cancer risk based on family history”, University of

Arizona Cancer Center Lecture Series, Oro Valley, AZ

03/12 Public lecture. “Cancer 101”, Tucson Indian Center, Tucson, AZ

06/12 Public lecture. “Cancer basics and prevention”, Navajo Nation Cancer Conference,

Window Rock, AZ

09/12 Public lecture and panel member. “Ovarian cancer screening and prevention”,

National Ovarian Cancer Coalition, Tucson Chapter, Tucson, AZ

03/13 Public Lecture. “Colorectal Cancer”, Breaking Barriers in Cancer among Native

Americans Conference, Partnership for Native American Cancer Prevention,

Flagstaff, AZ

02/14 Invited Speaker. “Inherited cancer risk in patients from the UA High-risk Cancer

Genetics Clinic”, Tucson Chapters Phi Beta Psi Founders Day Banquet, Tucson,

AZ

04/14 Public Lecture. “DNA and Inherited Disease”, Pima County Genealogical Society,

Tucson, AZ

01/15 Invited Speaker. “Updates in Fabry Disease”, Fabry Support & Information Group

Tucson Fabry Family Get Together, Tucson, AZ

03/15 Invited Speaker. “Alpha-1-Antitrypsin Genetics”, Old Pueblo Alpha-1 Support

Group Meeting, Tucson, AZ

05/14 Invited Speaker. Cancer Health Disparities Institute, Board of Community

Advocates Meeting, “Inherited Predisposition to Breast Cancer in Mexican and

Mexican American Women” University of Arizona Cancer Center, Tucson, AZ

Seminars

11/05 Invited Seminar. Department of Zoology, “Diverse spatial, temporal, and sexual

expression of recently duplicated androgen-binding protein genes in Mus musculus”

Charles University, Prague, Czech Republic

11/06 Invited Seminar. Institute for Vertebrate Biology, “Rapid bursts of Abp gene

duplication occurred independently in diverse mammals” Czech Academy of

Sciences, Studenec, Czech Republic


Date of CV 04/2016

05/09 Invited Seminar. Department of Zoology, “Rapid bursts of Abp gene duplication in

rodents and other mammals“ Masyryk University, Brno, Czech Republic

08/09 Gastrointestinal Division Grand Rounds. “Hereditary Nonpolyposis Colon Cancer

Syndrome” University of Arizona, Tucson, AZ

10/09 Internal Medicine Resident Academic Half-day. “Genetics for the General

Internist” University of Arizona, Tucson, AZ

04/10 Medical Staff Education.“Native American Cancer Prevention Goals, Cancer

Staging” Hopi Health Care Center, Polacca, AZ,

09/10 Workshop Leader. Annual Meeting, Arizona Chapter, American College of

Physicians, “Genetic Testing” Phoenix, AZ

09/10 Internal Medicine Resident Academic Half-day. “Genetics for the General

Internist” University of Arizona, Tucson, AZ

12/10 Medical Staff Education. “Colon cancer in high-risk populations” Hopi Health Care

Center, Polacca, AZ,

12/10 Medical Staff Management Conference. “Care of the patient at high risk of cancer”

Southern Arizona Veterans Administration Health Care Center, Tucson, AZ

02/11 Pulmonology Division Seminar. “Genetics for Pulmonologists” University of

Arizona, Tucson, AZ

05/11 Medical Staff Education. “Lynch syndrome and renal cancer: Not so rare in Native

Arizona” Chinle Navajo Health Services Hospital, Chinle, AZ

08/11 Medical Staff Education. “Evidence for cancer screening and prevention;

Identification of the patient at high-risk for breast cancer” Tohono O’Odham Indian

Health Service Hospital, San Xavier, AZ

12/11 Medical Staff Education. “Identifying and caring for women at high risk of breast

cancer” Hopi Health Care Center, Polacca, AZ

03/12 Medicine Grand Rounds. “Genetics for the General Internist” University of

Arizona, Tucson, AZ

11/12 Invited Seminar. Czech Academy of Sciences, “The evolutionary history of three

mouse pheromone gene families” Brno, Czech Republic

04/13 Medicine Grand Rounds. "Genetic Breast Cancer Syndromes: Cancer is

Preventable, but Patients are Under-recognized” University of Arizona, Tucson, AZ

05/14 Invited Seminar. Ventana Medical Systems, “Insensitivity to antigrowth signals”

Oro Valley, AZ

05/15 Internal Medicine Resident Academic Half-day. “Who to refer to genetics, and why

to refer them” University of Arizona, Tucson, AZ


Date of CV 04/2016

05/15 Invited Seminar. Undergraduate Biology Research Program. “Genes, genomes and

mouse spit” University of Arizona, Tucson, AZ

06/15 Invited Seminar. MD-PhD Program. “Careers in Cancer Genetics and Research”


07/15 Invited Seminar. NACP Research Retreat. “Cancer in Native Americans in

Arizona” Northern Arizona University and University of Arizona, Tucson, AZ

07/15 Invited Seminar. NACP Research Retreat. “Genetic research in genomic instability

and cancer” Northern Arizona University and University of Arizona, Tucson, AZ

09/15 Invited Seminar. Pathology Resident/Fellow Conference. “Mendelian Genetics and

Testing for Common Disorders” University of Arizona, Tucson, AZ

09/15 Invited Seminar, Dermatology Resident Conference. “Genetics for Dermatology”


01/16 Invited Seminar. Pathology Resident/Fellow Conference. “Cancer Genetics”


04/16 Family Medicine Residency Academic Half-Day. “Cultural Competency Training:

Working with Native American Patients” University of Arizona, Tucson, AZ

CONFERENCES

American College of Physicians Annual Session, San Francisco, CA 05/05.

European Society for Evolutionary Biology 10th Congress, Krakow, Poland 08/05.

4th European Congress of Mammalogy, Brno, Czech Republic 05/03

Northwest Genetics Exchange, Vancouver, BC, Canada 04/07

Wild Mouse Community Meeting, Max Planck Institute for Evolutionary Biology, Plön,

Germany 04/08

NCI Translational Science Meeting, Vienna, VA 11/09

Annual Meeting, Arizona Chapter, American College of Physicians, Phoenix, AZ 09/10

Beyond the Genome: The human gene count, human evolution and disease genomics. Boston,

MA 10/10

International Society for Inherited Gastrointestinal Tumors Semi-annual Meeting, San Antonio,

TX 03/11

International Congress of Human Genetics. Montreal, Quebec, Canada 10/11


Date of CV 04/2016

Indian Health Service Midwinter Conference on Women’s and Children’s Healthcare, Telluride,

CO 02/12

Navajo Nation Cancer Conference, Pre-meeting for health care professionals. Window Rock, AZ

06/12

Native Research Network Semi-Annual Meeting”, Seattle, WA 07/12

American College of Medical Genetics, Annual Meeting, Phoenix, AZ 03/13

22nd Annual Southwestern Conference on Medicine, Tucson, AZ 04/13

International Society for Inherited Gastrointestinal Tumors Semi-annual Meeting, Cairns,

Australia 08/13

American College of Physicians, Arizona Chapter Meeting, Tucson, AZ 11/13

Behaviour Meets Biochemistry: Animals Making Sense of Molecules Making Scents, London,

England 02/14

Wild Mouse Community Meeting, Max Planck Institute for Evolutionary Biology, Plön,

Germany, 05/14

American Society of Human Genetics 64th Annual Meeting, San Diego, CA 10/14

Mendel Forum 2015, Centrum Mendelianum, Brno, Czech Republic 03/15

American College of Medical Genetics Annual Clinical Genetics Meeting, Salt Lake City, UT

03/15

Sanford Children’s Genomic Medicine Consortium Inaugural Meeting, Sioux Falls, SD 04/15

American College of Medical Genetics Annual Clinical Genetics Meeting, Tampa, FL 03/16

Ehlers Danlos Syndrome International Symposium,, New York City 05/16

Peer reviewed abstracts

1. Laukaitis, C.M., Karn, R.C. Where and when are Abp-like gene copies expressed? Abstract

selected for poster presentation. American College of Physicians Annual Session, San

Francisco, CA, 05/05.

2. Laukaitis, C.M., Dlouhy, S.R., Emes, R.D., Ponting, C.P., and Karn, R.C. Diverse spatial,

temporal, and sexual expression of recently duplicated androgen-binding protein genes in

Mus musculus. European Society for Evolutionary Biology 10th Congress, Krakow, Poland,

08/05.

3. Bímová, B, Macholán, M., Munclinger, P., Laukaitis, C.M., Karn, R.C., Pialek J. The test of

behavioral isolation on the mouse hybrid zone: the comparison of behavioral and molecular

cline. European Society for Evolutionary Biology 10th Congress, Krakow, Poland, 08/05.


Date of CV 04/2016

4. Karn R.C., Laukaitis C.M., Munclinger P. The evolutionary history of a gene involved in

adaptive evolution. European Society for Evolutionary Biology 10th Congress, Krakow,

Poland, 08/05.

5. Bímová, B., Macholán, M., Munclinger, P., Laukaitis, C.M., Karn, R. C., Tucker, P., Piálek,

J., Behavioral isolation in the house mouse hybrid zone. 11th International Conference on

Rodent Biology „Rodens et Spatium“, Myshkin, Russia, 07/09.

6. Bímová, B., Macholán, M., Munclinger, P., Laukaitis, C.M., Karn, R.C., Baird, S.J.E.,

Piálek, J. Behavioural isolation in the house mouse hybrid zone. 12th Congress of European

Society for Evolutionary Biology, Turin, Italy, 08/09.

7. Laukaitis, C.M. and Thompson, P. Detecting Copy Number Variation in Candidate Genes

for Colorectal Cancer Risk. Invited poster and abstract. NCI Translational Science Meeting,

Vienna, VA, 11/09.

8. Karn, R.C. and Laukaitis, C.M. A candidate subspecies discrimination system involving a

vomeronasal receptor gene with different alleles fixed in M. m. domesticus and M. m.

musculus. Beyond the Genome: The human gene count, human evolution and disease

genomics. Boston, MA, 10/10.

9. Laukaitis, C.M., Thompson, P., Martinez, M-E., and Gerner, E.W. Identifying gene copy

number variants associated with colorectal adenoma recurrence. Beyond the Genome: The

human gene count, human evolution and disease genomics. Boston, MA, 10/10.

10. Laukaitis C.M. and Fuentes-Mauss, C. Does germline variation in the number of

Glutathione S-transferase gene copies affect the risk of metachronous colorectal neoplasia?

International Congress of Human Genetics. Montreal, Canada 10/11

11. Nelson-Moseke, A.C, Jeter, J.M., Cui, A., Roe, D.J., Chambers, S.K., and Laukaitis, C.M.

An Unusual BRCA Mutation Distribution in a High Risk Cancer Genetics Clinic. American

Society of Human Genetics. San Francisco, CA 11/12

12. Mauss, C., Thompson, P., Garcia, F., Lopez, AM, Laukaitis, C.M. Prevalence of Genetic

Mutations in Mexican and Mexican-American Women with Breast Cancer. American

College of Medical Genetics Annual Meeting, Phoenix, AZ 03/13

13. Chaudhury, A., Mauss, C., Jeter, J., Laukaitis, C.M. Understanding Genetic Polymorphisms

and Susceptibility in High Risk Breast Cancer. American College of Medical Genetics

Annual Meeting, Phoenix, AZ 03/13

14. Maher, K., Walton, S-J, Mauss, C., Clark, S., Laukaitis, C.M. Seeking genes that predict

desmoid formation in patients with familial adenomatous polyposis American College of

Medical Genetics Annual Meeting, Phoenix, AZ 03/13

15. Chung, A., Mauss, C., Karn, R.C., Laukaitis, C.M. Expression of Androgen-binding protein

genes (Abp) in lacrimal glands and tear secretions. American College of Medical Genetics,

Annual Meeting, Phoenix, AZ 03/13


Date of CV 04/2016

16. Laukaitis, C.M, Maher, K., Walton, S-J, Mauss, C., Clark, S. Seeking genes that predict

desmoid formation in patients with familial adenomatous polyposis. International Society for

Inherited Gastrointestinal Tumors Semi-annual Meeting, Cairns, Australia 08/13

17. Chaudhury, A., Mauss, C., Jeter, J.M., Laukaitis, C.M. Genomic Evaluation of Inherited

Predisposition to Breast Cancer in Women from the University of Arizona Cancer Center

High Risk Breast Cancer Genetics Clinic. American Association for Cancer Research

(AACR) Special Conference on Advances in Breast Cancer Research: Genetics, Biology, &

Clinical Applications, San Diego, CA. 10/13

18. C.M. Laukaitis, A. Chaudhury, C. Mauss, T. Walsh, P. Thompson, A-M Lopez, A. Daneri

Navarro, M-C King. Genomic evaluation of inherited predisposition to breast cancer among

women of Mexican ancestry. American Society of Human Genetics Annual Meeting, Boston,

MA 10/13

19. Chaudhury, A., Mauss, C., Jeter, J.M., Laukaitis, C.M. University of Arizona Cancer Center

High Risk Breast Cancer Genetics Clinic Perspective on Utilization of a Custom Next

Generation Sequencing Panel. American College of Physicians Arizona Chapter Scientific

Meeting; Tucson, AZ 11/13

20. Maher, K., Walton, S-J, Mauss, C., Clark, S., Laukaitis, C.M. QSOX1: A Desmoid Tumor

Modifier Gene in FAP? American College of Physicians Arizona Chapter Scientific Meeting;

Tucson, AZ 11/13; 1st Place Poster Award Winner

21. Chaudhury, A., Laukaitis, C.M., Mauss, C., Walsh, T., Casadei, S., Thompson, P., Lopez,

AM, Daneri Navarro, A., King, M-C. Frequent BRCA1/2 Mutations Found in Mexican &

Mexican - American Women with Breast Cancer. American Association for Cancer Research

(AACR) San Antonio Breast Cancer Symposium; San Antonio, TX, 12/13

22. Laukaitis, ACMG, Tampa, FL, 03/15

23. Huynh, ACMG, Tampa, FL, 03/15


Date of CV 04/2016

GRANTS

Current

U54 CA143924-02 Solomon & Trujillo(Core PIs) 9/01/14-8/31/2019

NIH/NCI $69,258 CML 0.6 CM

Partnership in Native American Cancer Prevention, Outreach Core

Role: Medical Education Director for Community Outreach Program

The goal of this project is to partner with tribal communities to develop sustainable community

education programs and research for cancer prevention that address the unique needs and stages

of readiness in three tribal communities (Hopi, Navajo, and Tohono O’odham Nations).

74-001-34-IRG A. Kraft (PI) 12/9/2015-12/31/2016

American Cancer Society $21,000 CML 0 CM

A Multi-locus SNP Assay to Predict Risk of Advanced Breast Cancer in ELLA Samples

Role: Project PI

We will genotype germline samples collected from the ELLA study, which enrolled 1222

Mexican-American women at the time of their diagnosis with breast cancer to test whether the

risk-conferring low-affinity, low miR-367 genotypes are preferentially associated with

participants with early (Stage 1-2) compared with later (Stage 3-4) breast cancer.

Pilot Grant Development Funding Laukaitis & Guthrie (co-PIs) 2/1/2015-1/30/2016

Through U54 CA143924-02 NIH/NCI $10,000 0 CM

Functional analysis of ATM gene mutations identified in minority women with breast cancer

This funding supports development of a full pilot project for NACP funding. These funds come

with three expectations: (1) That we will submit a proposal application to NACP on April 3,

2015. (2) That some of these funds will be used for travel so that collaborators can visit each

other’s institutions as well as to travel to relevant tribal communities. (3) That the project will

also be submitted for external funding before January 31, 2016.

Contracts

ARISE Trial (LAL-CL02) Laukaitis (Site PI) 09/13-09/2016

Synageva BioPharma Corporation $360,360 0 CM

A multicenter, randomized, placebo-controlled study of sbc-102 in patients with lysosomal acid

lipase deficiency: ARISE (Acid Lipase Replacement Investigating Safety and Efficacy)

This multicenter, randomized, placebo-controlled study evaluates the safety and efficacy of

SBC-102 (sebelipase alfa) in patients with Lysosomal Acid Lipase Deficiency (LALD). The

study will consist of a screening period of up to 6 weeks, a 20-week double-blind treatment

period, an open-label extension period of up to 130 weeks, and a follow-up phone call.

Genzyme Rare Disease Registry Laukaitis (Site PI) 02/14—indefinite

Genzyme, a Sanofi Company ~$12,500 (yearly) 0 CM

Rare Disease Registry Program (including Gaucher, Fabry, MPS I, and Pompe diseases).

This longitudinal, international, observational program tracks outcomes of routine clinical

practice for patients with these rare diseases. Data collected from these physicians represents rare

disease practice patterns and disease and treatment understanding across different populations

and cultures. The data collected by this international, collaborative Registry may provide

information to better characterize the natural history and progression of these diseases, as well as

the clinical responses of patients whose physicians have prescribed treatment for their disease.


Date of CV 04/2016

Applications Pending

Translational Research grant Laukaitis & Guthrie (co-PIs) 7/1/2016-6/30/2018

Mary Kay Foundation $100,000 1 CM

Functional analysis of ATM gene mutations identified in minority women with breast cancer

This project will develop a functional assay for ATM genetic variants, testing their ability to

repair double-strand DNA breaks. The assay will be used to assess the clinical relevance of ATM

variants of uncertain significance found in 1100 Mexican American women with breast cancer.

Completed Research Support within 5 years

P30 CA023074 Alberts (PI) 4/9/2009-4/8/2010

NIH/NCI $45,275 0 CM

Cancer Center Support Grant Developmental Funding

Copy Number Evaluation of Adenoma Samples

Role: Principal Investigator on Developmental Project

The major goal of this project was to re-analyze SNP genotyping data to look for correlation

between copy number variant genes and the risk of colon cancer development.

Komen small research grants Ray (PI) 6/1/2009-5/30/13

Susan B. Komen Foundation 0 CM

Education and screening regarding BRCA1/2 mutations and associated cancer risks to the

underserved urban, rural, and Latina populations at high risk for hereditary breast cancer in

Arizona via tele-genetic counseling.

Role: Co-Investigator

The major goal of this project was to measure the feasibility and reaction to providing genetic

counseling and testing to underserved populations using modalities such as telemedicine.

P50 CA95060 Gerner (PI) 10/1/2009-9/30/2012

NIH/NCI $60,000 1.2 FTE

NIH/NCI Specialized Program of Research Excellence in GI Cancer (GI SPORE)

Copy Number Evaluation of Adenoma Samples

Role: Supported for Career Development

This project re-analyzed SNP genotyping data to look for correlation between copy number

variant genes and the risk of colon cancer development.

P50 CA950060 Gerner (PI) Bridge Funding 2012-13

NIH/NCI $1,629,670 1.2 FTE

NIH/NCI Specialized Program of Research Excellence in GI Cancer (GI SPORE)

Developing medical treatments for FAP

Role: Project 4 Co-Investigator

The long-term objective of our SPORE in GI Cancers is to decrease mortality due to GI Cancers

by developing novel approaches for risk assessment, screening, chemoprevention and

therapeutics. This project studies medication regimens to delay surgery and prevent cancer in

people with FAP, an inherited cancer syndrome.

IRG-74-0013 Laukaitis (PI) 7/1/2012-6/30/13

American Cancer Society Institutional Research Grant $30,000 NCE to 6/30/14

DNA repair gene mutations in women of Mexican ancestry with breast cancer.


Date of CV 04/2016

The ELLA Study has created a unique database of women from an underserved and understudied

population who have been affected by breast cancer. We will use these data to develop a baseline

of mutation prevalence from which to start studying inherited breast cancer in other Hispanic

populations.

U54 CA143924-01 Wiist & Garcia (Core PIs) 9/28/2009-8/31/14

NIH/NCI $5.4 Million 1.2 CM

Partnership in Native American Cancer Prevention, Outreach Core

Role: Medical Education Director for Community Outreach Program

The goal of this project is to partner with tribal communities to develop sustainable community

education programs and research for cancer prevention that address the unique needs and stages

of readiness in three tribal communities (Hopi, Navajo, and Tohono O’odham Nations).

Phi Beta Psi Sorority Cancer Research Grant Laukaitis (PI) 8/1/2012-7/31/14

Phi Beta Psi Charity Trust $112,885 NCE to 2/15/2015

Detecting inherited DNA-repair mutations in women with strong family histories of breast

cancer.

This proposal supports translational studies looking for inherited genetic variation in breast-

cancer risk genes to explain elevated familial breast cancer risk in the absence of BRCA1 or

BRCA2 gene mutations. This work funds a preliminary study genotyping women from the UA

Cancer Genetics Clinic who have not been affected by cancer, but who are at high-risk based on

their family history.


Date of CV 04/2016

Graduate and Postdoctoral Advisors

Rick Horwitz, PhD

Executive Director

Allen Institute for Cell Science

Seattle, WA

Barbara Trask, PhD

Collaborators within the past 5 years:

Katherina Beeler

Setsuko Chambers

Ateefa Chaudhury

Amanda Chung

Adrian Daneri Navarro

Micah Donavan

Steve Erdman

Robert Erickson

Francisco Garcia

Eugene Gerner

Stanley Goldberg

O’neil Guthrie

Ronald Heimark

Julie Huynh

Vaclav Janousek

Joanne Jeter

Robert Karn

Mary-Claire King

Milos Macholan

Keri Maher

Maria-Elena Martinez

Corina Mauss

Anna Nelson-Moseke

Pavel Nemec

Lisan Peng

Denise Roe

Donato Romagnolo

Ornella Selmin

Patricia Thompson

Tom Walsh

Jason Wilder

Alexey Yanchukov

This is a true and accurate statement of my activities and accomplishments. I understand that

misrepresentation in securing promotion and tenure may lead to dismissal or suspension under

ABOR Policy 6-201 J.

CURRICULUM VITAE

Carol C. Gregorio, Ph.D.

CHRONOLOGY OF EDUCATION: 1983 B.A. (Biological Sciences), State University of New York @Buffalo, New York

1986 M.A. (Natural Sciences), State University of New York @Buffalo, New York

Advisor: Dr. Michael Hudecki

Thesis: “Effects of Denervation on the Concentration of Spectrin in Avian Muscle”

1992 Ph.D. (Molecular Immunology), Roswell Park Cancer Institute, Buffalo, New York

Advisor: Dr. Elizabeth Repasky

Dissertation: “Studies on the Activation-Induced Redistribution of Lymphocyte Spectrin”

CHRONOLOGY OF EMPLOYMENT: 1983 - 1987 Laboratory Technician, Department of Biological Sciences, SUNY/Buffalo, Buffalo, NY

1986 Graduate Teaching Assistant, Department of Biological Sciences, SUNY/Buffalo, Buffalo, NY

1987 - 1991 Graduate Student, Department of Molecular Immunology, Roswell Park Cancer

Institute, Buffalo, NY

1992 - 1995 Postdoctoral Fellow, Department of Cell Biology, The Scripps Research Institute, La Jolla, CA

Advisor: Dr. Velia M. Fowler

1995 - 1996 Senior Research Associate, Department of Cell Biology, The Scripps Research Institute,

La Jolla, CA

1996 - 2002 Assistant Professor, Department of Cell Biology and Anatomy, University of Arizona,

College of Medicine, Tucson, AZ

1997 - 2002 Assistant Professor, Joint Appointment, Department of Molecular and Cellular Biology,


2002 - 2006 Associate Professor, Depts. of Cell Biology and Anatomy, and Molecular and Cellular Biology,


2003 - 2004 Adjunct-Visiting Associate Professor, Dept. of Cell and Developmental Biology, Cornell Medical

College, New York, NY

2006 - pres. Director, Molecular Cardiovascular Research Program, University of Arizona

2006 - 2010 Professor, Department of Cell Biology and Anatomy, University of Arizona, Tucson, AZ.

2007 - pres. Co-Director, Sarver Heart Center, University of Arizona

2008 - 2009 Interim Department Head, Department of Cell Biology and Anatomy, The University of Arizona, Tucson,

AZ.

2009 - 2010 Department Head, Department of Cell Biology and Anatomy, University of Arizona, Tucson, AZ.

2010 Visiting Scholar, Columbia University, Biological Sciences, New York, NY.

2010 - pres. Department Head and Professor, Department of Cellular and Molecular Medicine (formerly Cell

Biology and Anatomy), The University of Arizona, Tucson AZ

2013 - 2014 Interim Director, Sarver Heart Center, University of Arizona

HONORS AND AWARDS: 1989, 1990 American Society for Cell Biology Travel Award

1990 New York State Student Research Fellowship

1994 Marine Biological Laboratory, Stetten Endowed Fellowship

1992 - 1995 NSRA Postdoctoral Fellowship, National Institute of Arthritis and Musculoskeletal and Skin

Diseases

1995 - 1996 American Heart Association, Senior Postdoctoral Fellowship

2003 Mortar Board Citation Award for Distinguished Service at the University of Arizona 2004 R.R. Bensley Award for Outstanding Cell Biologist, American Association of Anatomists, Experimental Biology Meeting ‘04 2006 - 2009 Board Member, American Association of Anatomists 2007 - 2009 NSF Advance Seed Grant Co-investigator

2008 - 2009 University of Arizona Sarver Heart Center, Steven M. Gootter Investigator Award

2010 - 2011 University of Arizona Sarver Heart Center, William and Dorothy Shaftner Research Award

2011 - pres. Luxford/Schoolcraft Endowed Professor, Sarver Heart Center, University of Arizona

2011 Alumni of the Year in Biological Sciences, University of Buffalo

2012 - 2015 Director, American Association of Anatomists Scientific Advisory Committee

2012 - 2014 NSF Advance Mentor for Alla Kostyukova, Washington State University, Pullman, WA

2013 Fellow, American Association of Anatomists

SERVICE (since 1996): Citizenship-Extramural

1994 – pres. Referee for Journals including: Journal of Cell Biology, Nature, Developmental Dynamics,

Journal of Experimental Medicine, Trends in Cell Biology, Molecular Biology of the Cell

Journal of Cell Science, J. Cell Motility and the Cytoskeleton, Muscle and Nerve,

Journal of Biological Chemistry, Cellular Immunology, American Journal of Physiology,

Experimental Cell Research, Journal of Molecular Biology, PNAS, PLoS One, Cytoskeleton,

Journal of Biomedicine and Biotechnology, Journal of Disease, Models and Mechanism,

Circulation Research, Journal of Molecular and Cellular Cardiology, Journal of Cellular

Biochemistry, Developmental Biology, etc.

1998 Organizer, International Human Frontier Science Project Meeting, Tucson, AZ

1998 - 2000 Department of Veterans Affairs Special Grant Review Panel (mail in)

1999 Co-Organizer, Weinstein International Cardiac Development Meeting, Tucson, AZ

2000 - 2002 Referee for Basic Human Anatomy Textbook, McGraw Hill, Inc.

2000 - 2003 Reviewer, Burroughs Welcome Trust Molecular and Cellular Biology Panel (mail in)

2000 Reviewer, NIH Minorities Biomedical Research Program SCORE grant (mail in)

2000, 2006 Ad Hoc Member, NIH Heart, Lung and Blood Institute PPG Study Section

2000, 2004 Reviewer, Programma di Ricerca-Modello Review Panel (via internet)

2000 - 2001 Member, National American Heart Association Molecular Genetics Study Section

2001 - 2007 Member, National American Heart Association Cell and Molecular Biology Study Section

2001 NIH National Institute on Deafness and other Communication Disorders, R21 (mail in)

2002 American Association of Anatomists Membership Advisory Council

2002 - pres. Member Editorial Board, Developmental Dynamics

2003 Member, NIH NHLBI SCCOR in Pediatric Heart Development and Disease Study Section

2004 Member, Association Francaise Contre Les Myopathies Grant Panel (via internet) 2004 Ad Hoc Member, NIH CSR, RO1 study section (via phone) 2004 - 2007 Chair, American Association of Anatomists Bensley Award Committee 2005 Co-Organizer, Weinstein International Cardiac Development Meeting, Tucson AZ 2006 - 2009 Member, Board of Directors, American Association of Anatomists 2006 - 2009 Member, Editorial Board, Cell Motility and the Cytoskeleton 2007 Ad Hoc Member, NIH NHLBI CCD study section

2007 Ad Hoc Member, NSF Electronic Proposal Review 2009 - 2012 Member, American Association of Anatomists Fellow Selection Committee 2009 - 2012 Member, American Heart Association Tucson Board of Directors

2009 - pres. Member/Instructor, Eureka International Institute for Translational Medicine

2009 - pres. Member Editorial Board, Cytoskeleton

2010 - pres. Member, Editorial Board, Journal of Muscle Research and the Cytoskeleton

2010 - pres. Member, NIH Cardiovascular Differentiation and Development Study Section

2011 - 2013 Member, American Association of Anatomists 125th Anniversary Committee

2011 - 2012 Member, Fellows Selection Committee, American Association of Anatomists

2011 - pres. Member, External Advisory Board of “San Diego Skeletal Muscle Research Center”

2011 - 2105 Member, AHA Western State Affiliate Research Committee

2011 - pres. Member, Steven M. Gootter Foundation Board

2011 - 2015 Chair, Scientific Affairs Committee, American Association of Anatomists

2012 Reviewer, The Netherlands Organisation for Health Research and Development (mail in)

2012 Reviewer, NIH Genes, Genomes and Genetics review panel (mail in)

2013 Reviewer, DFG Research proposals, Bonn, Germany

2013 - 2015 Chair, NIH Cardiovascular Differentiation and Development Study Section

2014 - pres. Member, Nominations Committee, American Association of Anatomists

2014 - pres Mentor, Sarnoff Cardiovascular Research Foundation

Citizenship-Intramural

Department of Cellular and Molecular Medicine (Cell Biology and Anatomy) Committees

1996 - 2009 Chair, Seminar Committee

1996 - 2009 Member, Core Facilities Committee

1997 - 2009 Member, Graduate Committee

1997 - 2006 Member, Master Plan Committee

1997 - 2000, 2002

2003, 2007 Member, Annual Evaluation Committee

2000 Organizer, First Annual CBA Scientific Retreat

2000 Member, Academic Internal Review Committee

2003 - 2006 Faculty Development Committee

2004 - 2005 Member, Cell Biology and Anatomy Head Search Liason Committee

2004 - 2005 Member, Dean’s Cardiovascular Working Group

2005 Member, Space Committee

2007 - 2008 Cell, Molecular and Developmental Biology Department Chair Advisory

Committee

2009 - 2013 Mentoring Committee, Lonnie Lybarger

College of Medicine Committees 1997 - 2012 Director, Microinjection Facility

1997 - 2001 Member, Health Sciences Library Advisory Committee

1998 - pres. Member, Cancer Biology Training Program

1998 - 2003 Member, Public Art Committee

1998 - 2001 Member, Longitudinal Clinical Component Committee

1997 - pres. Host, External seminar speakers (~3/year)

1997 - pres. Member, Sarver Heart Center

1997 - pres. Associate, Center for Toxicology

1998 - pres. Member of Advisory Board for Physiology Training Faculty; Heart, Lung, and Blood Training

Program

1999 - 2001 Member, Student Appeals Committee

1999 - 2003 Member, Subcommittee of the Dean’s Research Council

2001 Member, New Investigator Brown Bag Panel

2001 Member, Honor Code Committee

2004 - 2005 Member, Physiology Head Search Committee

2005 - pres. Member, Sarver Heart Center Scientific Advisory Committee

2005 - 2006 Member, Faculty Salary Incentive Committee

2005 - pres. Member, Heart, Lung and Blood Training Grant Steering Committee

2005 - 2006 Co-Chair, Cardiovascular Sciences Working Group

2006 - pres. Member, Sarver Heart Center Executive Committee

2006 - pres. Member, Sarver Heart Center Space Committee

2006 Member, Search Committee: Head of Department of Medicine

2006 - 2007 Chair, Search Committee: Norville Endowed Chair in Heart Disease in Women Research

2006 - pres. Fund Raising Events for Sarver Heart Center and Molecular Cardiovascular Research Program

2006 Director, AAMC post-doc initiative

2007 - 2011 Member, Founder’s Day Committee

2007 Co-Chair of Department Heads Retreat

2008 Reviewer, UA Clinical Scholars Circle Proposals

2009 - pres. Member, Mentoring Committee, Felicia Goodrum

2009 College of Medicine Endowed Chair Committee

2009 - 2011. Planning Committee for Frontiers in Biomedical Research Forum

2010 Member, Five-year review panel for Pharmacology Department Head

2010 Chair, Mentoring Committee, Jean Wilson

2010 - 2012 Chair, Faculty Search Committee, Translational Physician-Scientist Cardiovascular

Faculty Position

2011 - pres. Member, Strategic Planning Committee for Research

2012 Co-Developer, College of Medicine Incentive Plan

2015 Department of Medicine, Funding Initiative Committee

2015 - pres. Co-Chair College of Medicine Faculty Forward Research Committee

2015 - pres. Office of Research and Discovery Cores Advisory Committee

2015 - pres. Search Committee, College of Medicine Dean

2015 - pres. MD/PhD Student Resource

University of Arizona Committees

1998 - 2002 Member, Committee on Graduate Study (Representative for Preliminary Exams)

1999 - 2002 Member, Graduate Student Dean’s Fellowship Review Committee

2000 - 2003 Planning Committee, Biology Career Day 2001 and 2003 (for graduate & undergraduate

students and posdoctoral fellows)

2001 Selection Committee, Summer Undergraduate Biology Research Program (UBRP)

2001 - 2007 Director, Deconvolution Microscopy Facility

2005 Member, Student Council's Travel Grant Program

2005 - 2006 Member, Undergraduate Biology Research Program (UBRP) Selection Committee

2010 Member, Vice President for Research’s TRIF Advisory Review Committee

2008 - 2010 Committee of Eleven

2009 - 2014 Biacore surface plasmon resonance (SPR) technology Working Group

2011 Reviewer, Department of Biochemistry/Chemistry APR review panel

2011 Co-Organizer, Bio5 Stem Cell Research Symposium

2011 - pres. Member, Arizona Center for the Biology of Complex Diseases (ABCD) Executive Committee

2012 - 2015 Member, ERE/Tuition Benefits Committee

2012 Bio5 Grant Review Committee

2012 Reviewer, Vice President for Research, Letters of Intent for NIH Centers for Accelerated

Innovations Program

2012 - 2013 Chair, Search for Director of the Sarver Heart Center and Chief, Division of Cardiology

2013 - 2017 Member, Heads Up UA Department Heads Steering Committee

2014 - pres. Co-Chair, Heads Up UA Departments Heads Steering Committee

2014 - pres. PRIDE Internal Advisory Committee

2014 - pres. SVPR Research Advisory Committee

2015 - pres. Member, Provost’s Council

PUBLICATIONS/CREATIVE ACTIVITY (published or accepted) Invited Chapters Presenting Original Research

Gregorio, C.C., J.D. Black and E.A. Repasky. 1993. Dynamic aspects of cytoskeleton distribution in T lymphocytes:

involvement of calcium in spectrin reorganization. Blood Cells 19:361-373. PMID: 8312569

Centner, T., F. Fougerousse, A. Freiburg, C. Witt, J. Beckmann, K. Trombitas, Gregorio, C.C. and S. Labeit. 2000.

Molecular tools for the study of titin's differential expression. Advances in Experimental Medicine and Biology.

481:35-49; Discussion 50-52. PMID: 10987065

Gregorio, C.C., Perry, C.N., Labeit, S. and A.S. McElhinny. 2005. Functional properties of the titin/connectin-associated

proteins, the muscle-specific RING finger proteins (MURFs), in striated muscle. J Muscle Res Cell Motil. 14:1-

12. Chapter 4. PMID: 16474476

Invited Chapters Reviewing the State of the Field

Repasky, E.A. and Gregorio, C.C. 1992. Plasma membrane skeletons. P. Yeagle (ed). In: The Structure of Biological

Membranes. CRC Press Inc., pp 449-506.

Gregorio, C.C. 1997. Cellular Cytoskeleton. R. Dulbecco (ed). In: Encyclopedia of Human Biology. Academic Press,

2:573-578.

Kolmerer, B., C.C. Witt, A. Freiburg, S. Millevoi, G. Stier, H. Sorimachi, K. Pelin, L. Carrier, K. Schwartz, D. Labeit,

Gregorio, C.C., W.A. Linke and S. Labeit. 1999. The titin cDNA sequence and partial genomic sequences:

insights into the molecular genetics, cell biology and physiology of the titin filament system. Reviews in

Physiology, Biochemistry and Pharmacology, 138: 19-55. PMID: 10396137

McElhinny, A.S, S. Labeit and C.C. Gregorio. 2000. Exploring the functional significance of the interaction of titin with

novel ligands in cardiac myocytes. Advances in Experimental Medicine and Biology. 481:67-86; Discussion 86-

88.

Gregorio, C.C. and P.B. Antin. 2001. Myofibrillogenesis in the Heart. R. Tomanek and R. Runyan (eds). In: Formation

of the Heart and Its Regulation, Birkhäuser Boston p 23-44.

McLellan, C. and C.C. Gregorio. 2002. Tropomodulin: an important player in cardiac myofibrillogenesis. D. Dube (ed.).

In: Myofibrillogenesis. Birkhäuser Boston. p 59-69.

Clark K., McElhinny A.S., Beckerle M. and Gregorio, C.C. 2002. Striated muscle cytoarchitecture: an intricate web of

form and function. Ann. Rev. Cell Dev. Biol. 18:637-706.

Henderson, C.A. and C.C. Gregorio 2015. Dynamics of actin in the heart: defining thin filament length. Cardiac

Cytoarchitecture 71-88, Chapter 4.

Invited Journal Reviews of the State of the Field

Gregorio, C.C. and V.M. Fowler. 1996. Tropomodulin function and thin filament assembly in cardiac myocytes. Trends

in Cardiovascular Medicine 6:136-141. Cover photo. PMID: 21232887

Gregorio, C.C. 1997. Models of Striated Muscle Thin Filament Assembly. Cell Structure and Function. 22:191-195.

PMID: 9113406

Gregorio, C.C., H. Granzier, H. Sorimachi and S. Labeit. 1999. Muscle assembly: a titanic achievement? Current

Opinion in Cell Biology. 11:18-25. PMID: 10047523

Gregorio, C.C. and P. B. Antin 2000. At the heart of myofibril assembly. Trends in Cell Biology, 10:355-362. PMID:

10932092

McElhinny, A.S. Kazmierski, S.T, Labeit, S. and C.C. Gregorio. 2003. Nebulin: The Nebulous Multifunctional Giant of

Striated Muscle. Trends in Cardiovascular Medicine. 13:195-201. PMID: 12837582 Miller, M.K., H. Granzier, E. Ehler, and C.C. Gregorio. 2004. The Sensitive Giant: The Role of Titin-based Stretch

Sensing Complexes in the Heart. Trends in Cell Biology. 14:119-126. Cover photo. PMID: 15003620

Pappas CT, Bliss KT, Zieseniss A and Gregorio C.C. 2010. The Nebulin Family: an Actin Support Group. Trends in Cell

Biol. Epub 2010 Oct 15, print 2011, Jan;21(1):29-37. PMCID: PMC3014390

Leinwand L.A., Tardiff JC, Gregorio C.C. 2012. Mutations in the sensitive giant titin result in a broken heart. Circ Res.

2012 Jul 6;111(2):158-61. PMID: 22773424

Zarnescu D.C., Gregorio C.C. 2013. Fragile hearts: new insights into translational control in cardiac muscle. Trends

Cardiovasc Med. 23(8):275-81. PMID:23582851

Chu, M., Gregorio C.C. and Pappas C.T. 2015. Nebulin, a mult-functional giant. J. Exp. Biol. 219:146-152. PMID:

26792324

Refereed Journal Articles

Thacore, H.R., P.K. Kibler, Gregorio, C.C., C.M. Pollina and M.S. Hudecki. 1985. Characterization of lymphocyte

interferons with different species specificities from normal and genetically dystrophic chickens. Journal of

Interferon Research. 5:279-288. PMCID: 2409190

Hudecki, M.S., A.T. Caffiero, Gregorio, C.C. and C.M. Pollina. 1985. Effects of percutaneous electrical stimulation on

functional ability, plasma creatine kinase and pectoralis musculature of normal and genetically dystrophic

chickens. Experimental Neurology. 90:53-72. PMCID: 3876237

Gregorio, C.C., M.S. Hudecki, C.M. Pollina and E.A. Repasky. 1986. Effects of denervation on the concentration of

spectrin in avian muscle. Muscle Nerve. 11:372-379. PMCID: 2456462

Gregorio, C.C., R.T. Kubo. R.B. Bankert and E.A. Repasky. 1992. Translocation of spectrin and protein kinase C to a

cytoplasmic aggregate upon lymphocyte activation. Proceedings of the National Academy of Sciences. USA

89:4947-4951. PMCID: 1375753

Evans, S.S., W.C. Wang, Gregorio, C.C., T. Han and E.A. Repasky. 1993. Interferon- (IFN-) alters spectrin

organization in normal and leukemic B lymphocytes. Blood 81:759-766. PMID: 8427967

Gregorio, C.C., E.A. Repasky, V. M. Fowler and J.D. Black. 1994. Dynamic properties of ankyrin in T lymphocytes:

colocalization with spectrin and protein kinase C. Journal of Cell Biology. 125:345-358. PMID: 8163551

Hudecki, M.S., S.P. Povoski, Gregorio, C.C., J.A. Granchelli and C.M. Pollina. 1995. Efficacy of drug regimen exceeds

electrostimulation in treatment of avian muscular dystrophy. Journal of Applied Physiology. 78:2014-2019.

PMID: 7665393

Gregorio, C.C. and V.M. Fowler. 1995. Mechanisms of thin filament assembly in embryonic chick cardiac myocytes:

Tropomodulin requires tropomyosin for assembly. Journal of Cell Biology 129:683-695. Cover photo. PMID:

7730404

Gregorio, C.C., A. Weber, M. Bondad, C.R. Pennise, and V.M. Fowler. 1995. Requirement of pointed end capping by

tropomodulin to maintain actin filament length in embryonic chick cardiac myocytes. Nature 377:83-86. Cover

Photo. PMID: 7544875

Sorimachi, H., A. Freiburg, B. Kolmerer, S. Ishiura, G. Stier, Gregorio, C.C., D. Labeit, W.A. Linke, K. Suzuki and S.

Labeit. 1997. Tissue-Specific expression and -actinin binding properties of the Z-disc titin. Implications for the

nature of vertebrate Z-discs. Journal of Molecular Biology 270:688-695. PMID: 9245597

Gregorio, C.C., K. Trombitas, T. Centner, B. Kolmerer, G. Stier, K. Kunke, K. Suzuki, F. Obermayr, B. Herrmann, H.

Granzier, H. Sorimachi and S. Labeit. 1998. The NH2 terminus of titin spans the Z disc; Its interaction with a

novel 19 kDa ligand (T-cap) is required for sarcomeric integrity. Journal of Cell Biology 143:1013-1027. PMID:

9817758

Almenar-Queralt, A., Gregorio, C.C. and V.M. Fowler. 1999. Tropomodulin assembles early in myofibrillogenesis in

chick skeletal muscle: evidence that thin filaments rearrange to form striated myofibrils. Jourrnal of Cell Science

112:1111-1123. PMID: 10085247

Linke, W.A., D.E. Rudy, T. Centner, M. Gautel, C. Witt, S. Labeit and C.C. Gregorio. 1999. I-band titin in cardiac

muscle is a three-element molecular spring and is critical for maintaining thin filament structure. Journal of Cell

Biology. 164: 146:631-644. Cover Photo. PMID: 10444071

Freiburg, A., Trombitas, K., Hell, W., Cazorla, O., Fougerousse, F., Centner, T., Kolmerer, B., Witt, C., Beckmann, J.

Gregorio, C.C., Granzier, H. and S. Labeit. 2000. Series of exon-skipping events in titin's elastic spring region as

the structural basis for myofibrillar elastic diversity. Circulation Research, 86:1114-1121. PMID: 10850961

McElhinny, A.S., Kolmerer, B., Fowler, V.M., Labeit, S. and C.C. Gregorio. 2000. The N-terminal end of nebulin

interacts with tropomodulin at the pointed ends of the thin filaments. Journal of Biological Chemistry. 276:583-

592. Cover Photo. PMID: 11016930

Rudy, D.E, T. Yatskievych, P.B. Antin and C.C. Gregorio. 2001. Assembly of thick, thin and titin filaments in chick

precardiac explants. Developmental Dynamics 221:61-71. PMID: 11357194 Centner, T., Yano, J., Kimura, E., McElhinny, A.S., Pelin, K., Witt, C.C., Bang, M-L, Trombitas, K., Granzier, H.,

Gregorio, C.C., Sorimachi, H., and S. Labeit. 2001. Identification of muscle specific ring finger proteins as potential regulators of the titin kinase domain. Journal of Molecular Biology. 306:717-26. Cover Photo. PMID: 11243782

Bang, M.L. Mudry, R.E., McElhinny, A.S., Trombitás, K., Geach, A.J. Yamasaki, R., Sorimachi, Granzier, H., Gregorio,

C.C., and S. Labeit. 2001. Myopalladin, a novel 145 kDa sarcomeric protein with multiple roles in Z-disc and I-

band protein assemblies. Journal of Cell Biology, 153:413-428. Cover Photo/Joint senior authorship. PMID:

11309420

Furukawa, T., Ono, Y., Tsuchiya, H. Katayama Y., Bang, M.-L., Labeit, D., Labeit, S., Inagaki, N., and C.C. Gregorio.

2001. Specific Interaction of a minK Channel Subunit with the Sarcomeric Protein T-cap Suggests a T-Tubule -

Myofibril Z-line Linking System. J. Molecular Biology 313:776-784. Cover Photo. PMID: 11697903

Bang, M.-L., Centner, T., Fornoff, F., Geach, A., Gotthardt, M., McNabb, M., Witt, C., Labeit, D., Gregorio, C.C.,

Granzier, H., and S. Labeit The complete gene sequence of titin, expression of an unusual ~700 kDa titin isoform

and its interaction with obscurin identify a novel Z-line to I-band linking system. Circulation Research. 89:1065-

1072. Cover Photo. PMID: 11717165 McElhinny, A., Kakinuma, K., Sorimachi, H., Labeit, S. and C.C. Gregorio. 2002. Dual roles of MURF-1 in the

regulation of sarcomeric M-line structure and in the potential modulation of gene expression via its interaction with titin and GMEB-1. Journal of Cell Biology, 157:125-36. In Brief Review of Article.

Bang, M.-L., Gregorio C.C. and S. Labeit. 2002. Specific interaction of the C-terminal region of nebulin with desmin as

the basis for an inter Z-line linking system. J. Structural Biology, 137:119-27.

Knoll R, Hoshijima M, Hoffman HM, Person V, Lorenzen-Schmidt I, Bang ML, Hayashi T, Shiga N, Yasukawa H,

Schaper W, McKenna W, Yokoyama M, Schork NJ, Omens JH, McCulloch AD, Kimura A, Gregorio CC, Poller

W, Schaper J, Schultheiss HP, and KR. Chien. 2002. The cardiac mechanical stretch sensor machinery involves a

Z disc complex that is defective in a subset of human dilated cardiomyopathy. Cell 111:943-55. BBC, NY Times,

etc. Review of Article. PMID: 12507422

Kazmierski, S.T., Antin P.B., Witt, C., McElhinny, A.S., Labeit, S. and C.C. Gregorio. 2003. The complete mouse

nebulin Gene Sequence and the Expression of Cardiac Nebulin. J. Molecular Biology, 328:835-46. PMID:

12729758

Mudry, RE, Perry, CN, Fowler V.M., and C.C. Gregorio. 2003. The Interaction of tropomodulin with tropomyosin

Stabilizes Thin Filaments in Cardiac Myocyte. J. Cell Biology, 162: 1057-68. PMID: 12975349

Fritz-Six, KL, P.R. Cox, R.S. Fischer, B. Xu, Gregorio, C.C., H.Y. Zoghbi, and V.M. Fowler 2003. Aberrant myofibril

assembly in tropomodulin1 null mice leads to aborted heart development and embryonic lethality. J. Cell Biology,

163:1033-44. PMID: 14657235 Miller, M., M.-L Bang,, C.C. Witt, D. Labeit, C. Trombitas, K. Watanabe, H. Granzier, A.S. McElhinny, Gregorio, C.C.,

and S. Labeit. 2003. The muscle ankyrin repeat proteins: CARP/ankrd2/DARP as a family of titin filament based

stress response molecules, J. Molecular Biology. 333:951-64. PMID: 14583192

Witt, C.C, Y. Ono, E. Puschmann, M. McNabb, Y. Wu, M. Gotthardt, M. Haak, D. Labeit, Gregorio, C.C., H. Sorimachi,

H. Granzier, and S. Labeit. 2004. Induction and myofibrillar targeting of CARP, and suppression of the Nkx2.5

pathway as hallmarks of skeletal muscular dystrophy in the mdm mouse model. J. Molecular Biology. 336:145-

54. PMID: 14741210

McElhinny, A.S., C.N. Perry, C. Witt, S. Labeit and C.C. Gregorio. 2004. Muscle specific RING finger-2 (MURF-2) has

multiple subcellular localizations and is required for microtubule, intermediate filament, and sarcomeric M-line

maintenance in striated muscle. J. Cell Science, 117:3175-88.

Adameyko, I.I., Mudry, R.E., Rewa, N, Houston-Cummings, M., Veselov, A.P., Gregorio, C.C. and S.G. Tevosian. 2005.

The expression and regulation of mouse SERDIN1, a highly conserved cardiac-specific leucine-rich repeat

protein. Developmental Dynamics. 233:540-52. PMID: 15830381

Ono, Y., Schwach, C., Antin, P.B. and Gregorio, C.C.. 2005. Disruption in the Tmod1 gene compromises cardiomyocyte

development in murine embryonic stem cells by arresting myofibril maturation. Developmental Biology,

Developmental Biology, 282:336-48. Cover photo. PMID: 15950601

McElhinny, A.S., Schwach C., Valichnac M., Mount-Patrick, S. and Gregorio, C.C.. 2005. Nebulin regulates thin

filament lengths in striated muscle: Evidence for its role as a molecular ruler. J. Cell Biology 170: 947-957. In

Brief Review of Article. Featured in Current Biology and Trends in Cell Biology.

Zieseniss, A., Terasaki, A.G., and Gregorio, C.C.. 2008. Lasp-2 expression, localization, and ligand interactions: A new

Z-disc scaffolding protein. Cell Motil Cytoskeleton. 65:59-72. Cover photo. PMID: 17968983

Pappas, C.T., Bhattacharya, N., Cooper, J.A. and Gregorio, C.C. 2008. Nebulin Interacts with CapZ and Regulates Thin Filament Architecture within the Z-disc. Mol. Biol. Cell. 19:1837-47. Cover Photo. PMID: 18272787

Moran, C.M., Garriock, R.J., Miller M.K., Heimark, R.L., Gregorio, C.C. and P.A. Krieg. 2008. Expression of the fast twitch troponin complex, fTnT, fTnI and fTnC, in vascular smooth muscle. Cell Motil. Cyotosk. 65:652-61. PMID: 18548613

Conover, G.M., Henderson, S.N. and Gregorio, C.C.. 2009. A myopathy-linked desmin mutation perturbs striated muscle actin filament architecture. Mol. Biol. Cell. 20:834-45. PMID: 19005210

Tonino, P., Pappas, C.T., Hudson, B.D., Labeit, S., Gregorio, C.C., and Granzier, H. 2010. Reduced myofibrillar connectivity and increased Z-disk width in nebulin-deficient skeletal muscle. J Cell Sci. Feb 1;123(Pt 3):384-91. PMCID: 2816184



Tsukada, T., Pappas, C.T., Moroz, N., Antin, P.B., Kostyukova, A.S. and Gregorio, C.C. 2010. Leiomodin-2 is an

antagonist of tropomodulin-1 at the pointed end of the thin filaments in cardiac muscle. J Cell Sci. 15;3136-45.

Epub 2010 Aug 24. PMCID: PMC2931607. Cover Photo.

Pappas CT, Krieg PA and Gregorio CC. 2010. Nebulin Regulates Actin Filament Lengths by a Stabilization Mechanism.

J. Cell Biol. 189(5):859-70. PMCID: PMC2878950

Tsukada T, Kotlyanskaya L, Huynh R, Desai B, Novak SM, Kajava AV, Gregorio CC and Kostyukova AS. 2011.

Identification of residues within tropomodulin-1 responsible for its localization at the pointed ends of the actin

filaments in cardiac myocytes. J Biol Chem. 286(3):2194-204. PMCID: PMC3023515

Conover GM, and Gregorio CC. 2011. The desmin coil 1b mutation k190a impairs nebulin Z-disc assembly and

destabilizes actin thin filaments. J. Cell Science 124:3464-76. PMCID:PMC3196858

Junkin M, Leung SL, Whitman S, Gregorio CC, and Wong PK. 2011. Cellular self-organization by autocatalytic

alignment feedback. J Cell Sci. 124:4213-20. Cover Photo. PMID: 22193956

Whitman SA, Cover C, Yu L, Nelson DL, Zarnescu DC, and Gregorio CC. 2011. Desmoplakin and talin2 are novel

mRNA targets of Fragile-X-related protein-1 in cardiac muscle. Circ Res. 22:109(3):262-71.

PMCID:PMC3163600

Donlin LT, Andresen C, Just S, Rudensky E, Pappas CT, Kruger M, Jacobs EY, Unger A, Zieseniss A, Dobenecker MW,

Voelkel T, Chait BT, Gregorio CC, Rottbauer W, Tarakhovsky A, and Linke WA. 2012. Smyd2 controls

cytoplasmic lysine methylation of hsp90 and myofilament organization. Genes Dev. 26(2):114-9.

PMCID:PMC3273835

Leinwand LA, Tardiff JC, Gregorio CC. 2012. Mutations in the sensitive giant titin result in a broken heart. Circ Res.

111(2):158-61. PMID:22773424

Raskin A, Lange S, Banares K, Lyon RC, Zieseniss A, Lee LK, Yamazaki KG, Granzier HL, Gregorio CC, McCulloch

AD, Omens JH, Sheikh F. 2012. A novel mechanism involving four-and-a-half LIM domain protein-1 and

extracellular signal-regulated kinase-2 regulates titin phosphorylation and mechanics. J Biol Chem. 287(35)

29273-84. PMID:22778266

Warkman AS, Whitman SA, Miller MK, Garriock RJ, Schwach CM, Gregorio CC, Krieg PA. 2012. Developmental

expression and cardiac transcriptional regulation of Myh7b, a third myosin heavy chain in the vertebrate heart.

Cytoskeleton May;69(5):324-35. PMID: 22422726

Bliss KT, Chu M, Jones-Weinert CM, Gregorio CC. 2013. Investigating lasp-2 in cell adhesion: new binding partners

and roles in motility. Mol Biol Cell. 24(7):995-1006. PMID:23389630

Moroz NA, Novak SM, Azevedo R, Colpan M, Uversky VN, Gregorio CC, Kostyukova AS. 2013. Alteration of

tropomyosin-binding properties of tropomodulin-1 affects its capping ability and localization in skeletal

myocytes. J Biol Chem. 288(7):4899-907. PMID:23271735

Nworu CU, Krieg PA, Gregorio CC. 2013. Preparation of developing Xenopus muscle for sarcomeric protein

localization by high-resolution imaging. Methods. S1046-2023(13)00216-8. PMID:23806641

Ono Y, Iemura S, Novak SM, Doi N, Kitamura F, Natsume T, Gregorio CC, Sorimachi H. 2013. PLEIAD/SIMC1/

C5orf25, a novel autolysis regulator for a skeletal-muscle-specific calpain, CAPN3, scaffolds a CAPN3 substrate,

CTBP1. J Mol Biol. 425(16):2955-72. PMID:23707407

Bliss, KT, Tsukada, T, Novak, SM, Dorovkov, MV, Shah, SP, Nworu, C, Kostyukova, AS, Gregorio, CC. 2014.

Phosphorylation of tropomodulin1 contributes to the regulation of actin filament architecture in cardiac muscle.

FASEB J. [Epub ahead of print]. PMID: 24891520.

Yuen M, Sandaradura SA, Dowling JJ, Kostyukova AS, Moroz N, Quinlan KG, Lehtokari VL, Ravenscroft G, Todd EJ,

Ceyhan-Birsoy O, Gokhin DS, Maluenda J, Lek M, Nolent F, Pappas CT, Novak SM, D'Amico A, Malfatti E,

Thomas BP, Gabriel SB, Gupta N, Daly MJ, Ilkovski B, Houweling PJ, Davidson AE, Swanson LC, Brownstein

CA, Gupta VA, Medne L, Shannon P, Martin N, Bick DP, Flisberg A, Holmberg E, Van den Bergh P, Lapunzina

P, Waddell LB, Sloboda DD, Bertini E, Chitayat D, Telfer WR, Laquerrière A, Gregorio CC, Ottenheijm CA,

Bönnemann CG, Pelin K, Beggs AH, Hayashi YK, Romero NB, Laing NG, Nishino I, Wallgren-Pettersson C,

Melki J, Fowler VM, MacArthur DG, North KN, Clarke NF. 2014 Leiomodin-3 dysfunction results in thin

filament disorganization and nemaline myopathy. J. Clin Invest. 24(11):4693-708. PMID: 25250574

Granzier HL, Hutchinson KR, Tonino P, Methawasin M, Li FW, Slater RE, Bull MM, Saripalli C, Pappas CT, Gregorio

CC, Smith JE 3rd. 2014. Deleting titin's I-band/A-band junction reveals critical roles for titin in biomechanical

sensing and cardiac function. Proc Natl Acad Sci U S A. 111(40):14589-94. PMID: 25246556

http://www.ncbi.nlm.nih.gov/pubmed?term=%22Kotlyanskaya%20L%22%5BAuthor%5D

http://www.ncbi.nlm.nih.gov/pubmed?term=%22Huynh%20R%22%5BAuthor%5D

http://www.ncbi.nlm.nih.gov/pubmed?term=%22Desai%20B%22%5BAuthor%5D

http://www.ncbi.nlm.nih.gov/pubmed?term=%22Novak%20SM%22%5BAuthor%5D

http://www.ncbi.nlm.nih.gov/pubmed?term=%22Kajava%20AV%22%5BAuthor%5D

http://www.ncbi.nlm.nih.gov/pubmed?term=%22Gregorio%20CC%22%5BAuthor%5D











Nworu CU, Krieg PA, Gregorio CC. 2014. Preparation of developing Xenopus muscle for sarcomeric protein

localization by high-resolution imaging. Methods. PMID:23806641

Nworu CU, Schnurr DS, Gregorio CC, Krieg, PA. 2014. Leiomodin 3 and Tropomodulin 4 have overlapping functions

during skeletal myofibrillogenesis. J Cell Sci. 128(2):239-50. PMID: 25431137

Ono Y, Shindo M, Doi N, Kitamura F, Gregorio CC, Sorimachi H 2014. The N- and C-terminal autolytic fragments of

CAPN3/p94/calpain-3 restore proteolytic activity by intermolecular complementation. Proc Natl Acad Sci U.S.A.

111(51):E5527-36. PMID: 25512505

Pappas CT, Mayfield RM, Henderson C, Jamilpour N, Cover C, Hernandez Z, Hutchinson KR, Chu M, Nam

K-H, Valdez JM, Wong PK, Granzier, H. Gregorio CC. 2015. Knockout of LMOD2 results in

Shorter thin filaments followed by dilated cardiomyopathy and juvenile lethality PNAS. Proc Natl Acad Sci U S

A. 112(44):13573-8. PMID: 26487682

Novak SM, Joardar A, Gregorio CC, Zarnescu DC. 2015. Regulation of heart rate in drosophila via Fragile X mental

retardation protein. PLoS One. 2015 Nov 16;10(11):e0142836. PMID: 26571124

INVITED SCHOLARLY PRESENTATIONS (SINCE 1996):

Invited International Symposia and Conference Presentations 1996 Speaker, International Symposium on Molecular Mechanisms of Myofibril Assembly, Chiba, Japan

1998 Symposia Speaker, Experimental Biology '98 Meeting, San Francisco, CA

Meeting Organizer and Speaker, Human Frontier Science Project Meeting, Tucson, AZ

1999 Co-Organizer and Session Chair, Weinstein International Heart Development Meeting, Tucson, AZ

Session Chair and Speaker, Elastic Filament Meeting, University of Washington, Seattle, WA

Special Interest Subgroup Speaker, American Society for Cell Biology Meeting, Washington D.C.

2001 Speaker, Coiled-Coils, Collagen and Co-Proteins III Meeting, Alpbach, Austria

Special Interest Subgroup Speaker, American Society for Cell Biology Meeting, Washington D.C.

2003 Symposia Speaker, Experimental Biology Meetings, San Diego, CA

Speaker, 12th Annual London Muscle Conference, London England

Special Interest Subgroup Co-Chair and Speaker, American Society for Cell Biology, San Francisco, CA

2004 Speaker, Structural Mechanisms in Muscle; Jean Hanson’s Legacy, Kings College, London

Speaker, European Muscle Conference 2004, Island of Elba, Italy

Speaker, Experimental Biology '04 Meeting, Washington, D.C.

Speaker, International Symposium on Muscle Elastic Proteins: K. Maruyama Memorial Meeting, Chiba, Japan Special Interest Subgroup Co-Chair, American Society for Cell Biology, Washington, DC

2005 Symposia Chair, Experimental Biology ’05 Meeting, San Diego, CA

Co-Organizer and Session Chair, Weinstein International Heart Development Meeting, Tucson, AZ

Special Interest Subgroup Co-Chair, American Society for Cell Biology, San Francisco, CA

2006 Speaker, 6th International Muscle Energetics Conference, Banff, Canada

Speaker, 5th International Ascona Workshop on Cardiomyocyte Cell Biology, Switzerland

Co-Chair & Speaker, Special Interest Subgroup, American Society for Cell Biology, San Diego, CA

2007 Co-Chair, Special Interest Subgroup, American Society for Cell Biology, Washington, DC

2008 Speaker, Integrative Biology of Exercise Conference, Hilton Head, SC

Chair and Speaker, European Muscle Conference, Oxford, England

Co-Chair, Special Interest Subgroup, American Society for Cell Biology, San Francisco, CA

2009 Speaker, Eureka Institute for Translational Medicine Certificate Program, Siracusa, Italy

Speaker, 17th Congress of the International Federation of Associations of Anatomists, Cape Town,

South Africa

Co-Chair and Speaker, Special Interest Subgroup, American Society for Cell Biology, San Diego, CA


Co-Chair, Special Interest Subgroup, American Society for Cell Biology, Philadelphia, PA


Co-Chair, Special Interest Subgroup, American Society for Cell Biology, Denver, CO






Co-Chair and Speaker, Special Interest Subgroup, American Society for Cell Biology, San Francisco, CA


Speaker, EMBL Conference Myofibrillar Z-Disc Structure and Dynamics, Hamburg Germany


2015 Speaker, Journal of Experimental Biology Symposium 2015 – Muscle: Molecules to Motion, Massa Marittima,

Italy

2015 Speaker, European Muscle Conference 2015, Warsaw, Poland

Invited Seminar Presentations

1996 Department of Biology, New York University, New York, NY

Department of Cell Biology and Anatomy, University of Arizona

Department of Biology, Wesleyan University, Middletown, CT

Boston Biomedical Research Institute, Boston, MA

Department of Physiology and Cell Biology, Albany Medical College, Albany, NY

1997 Mayo Clinic, Scottsdale, AZ

1998 Department of Cell Biology, University of Massachusetts Medical Center, Shrewsbury, MA

1999 Department of Molecular Immunology, Roswell Park Cancer Institute, Buffalo, NY

Institute of Cell Biology, Zurich, Switzerland

2000 Department of Veterinary and Comparative Anatomy, Pharmacology, and Physiology, Washington

State University, Pullman, WA

Department of Cell Biology and Anatomy, Weill Medical College, Cornell University, New York

2001 Pennsylvania Muscle Institute, University of Pennsylvania, Philadelpha, PA

Department of Medicine, University of California at San Diego, CA

Department of Physiology, University of Maryland, Baltimore, MD

2004 Department of Biological Sciences, Columbia University, NY

Pennsylvania Muscle Institute, University of Pennsylvania, Philadelpha, PA

Cardiology Grand Rounds, Weill Medical College, Cornell University, NY

Department of Cell and Developmental Biology, Weill Medical College, Cornell University, New York

Department of Cell and Molecular Physiology, University of North Carolina-Chapel Hill, NC

Department of Biomedical Sciences, Midwestern University, AZ

2005 Department of Biological Sciences, Northern Arizona University, AZ

Cardiology Grand Rounds, Weill Medical College, Cornell University, NY

Leon H. Charney Division of Cardiology, New York University, New York, NY

Florida State University, H. Taylor Memorial Lecture, Tallahassee, FL

2006 Cardiology Department, University of California at San Diego, CA

2007 Physiology and Biophysics Unit, University of Muenster, Germany

2009 Department of Physiology and Biophysics, University of Illinois, Chicago, IL

Distinguished Cardiovascular Lecturer and Cardiology Grand Rounds, Vanderbilt University Medical Center,

Nashville, TN

2010 Department of Neuroscience and Cell Biology, Robert Wood Johnson Medical School, Piscataway, NJ

2011 Department of Biological Sciences, University of Buffalo, Buffalo, NY

2012 Cardiology Department, University of California at San Diego, CA

Department of Cell and Developmental Biology, SUNY Upstate Medical School, Syracuse, NY

College of Biological Sciences, University of Minnesota, Minneapolis, MN

School of Chemical Engineering and Bioengineering, Washington State University, Pullman, WA

2013 Department of Biology, McGill University Montreal, Canada

2014 Frontiers in Biomedical Research, Virginia Tech Carilion Research Institute, Roanoke, VA

Acorda Therapeutics, Inc. Ardsley, New York

Sanofi, Oro Valley, AZ

Zentrum Physiologie und Pathophysiologie, Universität Göttingen

2015 Sidra Medical and Research Center, Qatar

Department of Cell Biology, Neurobiology & Anatomy, Medical College of Wisconsin

Perelman School of Medicine, University of Pennsylvania

Invited University of Arizona (or Associated) Seminar Presentations 1997 Department of Molecular and Cellular Biology

1998 Cancer Biology Program

Department of Pediatrics

1999 Arizona Imaging and Microanalysis Society, Tucson, Arizona

1999, 2000, 2004 Undergraduate Research Biology Summer Program

2001, 2003 NIH Program Project Grant “Commitment and Differentiation of Cardiac Cell Phenotypes”

Conference

2001 Respiratory Sciences Center

2002 Motor Control Groups “Doings”

2005 Dean’s Research Council: Cardiovascular Biology Data Blitz

2006 Sarver Heart Center Research Talk

2007 Department of Pediatrics

2006 - pres. Numerous presentations to Sarver Heart Center’s Executive Board,

Heart Disease in Women Group, Fundraising Events

2007 Cancer Biology Program

2008 Bio5, Know Your Neighbor Series

2009 Darrel Goll Tribute

2009 UA Foundation, Grants for Lunch Series

2012 New Faculty Orientation

2015 Brown Bag Lectures for Arizona Health Sciences Center

Electronic Contributions 1999 Southwest Environmental Health Sciences Center, includes my confocal images

http://www.ehsc.orst.edu/mysteries/toolbox/confocal/function.html

TEACHING CONTRIBUTIONS (since 1996) 1997 - pres. Principles of Cell Biology (CMM/MCB 577) 1997 - 2008 Course Coordinator, Cell Biology and Anatomy Seminar Series (CBA 696) 1997 - 2002 Medical School Problem-Based Learning (CBA 601a/801a)

1997 - 2000 Human Gross Anatomy Lecture/Lab (Lower Extremity) (CBA 601/801)

1999, 2001 Cell Regulation (MCB/BIOC 572)

1997 Concepts in Cellular Differentiation (CBA/MCB 596)

2001 Cellular and Molecular Cardiovascular Biology (CBA/MCB/CBIO 596) 2002 - pres. Course Director, Science, Society and Ethics (MCB 695) 2006, 2007, 2008

2009, 2011 Arizona Med: 1st year Medical Student Journal Club (2)

INDIVIDUAL STUDENT CONTACT

Undergraduate and High School Students

1996 - 1997 Jackie Dalman

1997 Raj Shivestrie

1998 - 2000 Avon Tai

2000 - 2001 Jennifer Spicer

1998 Mary Martin

1999 Ryan Mudry

2001 - 2004 Cynthia Perry

2002 - 2004 Mathew Smith

2002 - 2003 Yulia Krotova Khan

2003 - 2006 Melinda Valichnac

2004 - 2006 Syerra Henderson

2005 Bernardo Chavira

http://www.ehsc.orst.edu/mysteries/toolbox/confocal/function.html

2006 Alfonso Robles

2005 - 2007, 2009 Lissette Ledesma

2006 - 2007 Bao Uyen Vu

2006 - 2008 Maria Khan

2006 - 2007 Derek Whitbeck

2007 - 2012 Colin Jones-Weinert

2008 - 2012 Lily Yu

2008 Marcus Bailey

2008 Arun Siva

2008 Reney Henderson

2008 - 2014 Marcus DeMarco

2009 Aaron Weintraub

2009 - 2013 Marcela Suarez

2009 - 2011 John Dicken

2009 - 2015 Cathleen Cover

2010 - 2013 Manuel Villegas

2012 - 2015 Elisa Namdarian

2011 Issac Hung

2011 - 2012 Daniel Paisano

2012 Farid Eythrib

2012 - 2013 Gemma Thomas

2013 - 2014 Jennifer Wainwright

2013 Christopher Weinmann

2013 Elaine Bitar

2013 Gabriela Elizondo-Craig

2013 Ashley Lynn Sanders

2013 Sanjay Srinivasan

2014 - 2015 Christopher Gomez

2014 - pres. David O’Neil Lyons

2014 - pres. Parth Mahendra Patel

2015 - pres. Brianna Lee Shutz

2015 Sarah Schwyhart

Medical Students

2008 - 2011 Uma Goyal (University of Arizona)

2013 - 2014 Zachry Hernandez (Sarnoff Fellow from Stanford University)

2014 Laurel Payne (Midwestern University)

Graduate Students as Dissertation Advisor

1997 - 1999 Jonathon Mayo, M.A. Graduate Student. Presently Research Specialist at the U of A.

1998 - 2002 Diane Rudy, Ph.D. Graduate Student. Presently Owner and Founder of Specialized Stem Cells,

LCC

2000 - 2003 Melanie Miller, M.A. Graduate Student. Presently a Research Scientist at Ventana Medical

Systems.

2000 - 2002 Ryan Mudry, M.A. Graduate Student. Senior Research Specialist, WVU

2003 - 2009 Christopher Pappas, Ph.D. Graduate Student. Research Assistant Professor, University of Arizona

2005 - 2010 Samantha Whitman, Ph.D. Graduate Student President, DemeteRx Pharmaceuticals, LLC

2007 - 2012 Katie Bliss, Ph.D. Graduate Student, Co-Owner, DemeteRx Pharmaceuticals, LLC

2007 - 2013 Chinedu Nworu, Ph.D. Research Specialist, Roche-Ventana Medical Systems

2010 - pres. Stephanie Novak, Ph.D. Graduate Student

2011 - pres. Christine Henderson, Ph.D. Graduate Student

Graduate Students as Rotation Advisor

1997 - 2000 Catherine McLellan, Dept. of Molecular and Cellular Biology

1999 Thomas Centner, Visiting Scholar from the EMBL, Heidelberg, Germany

1999 Christian Witt, Visiting Scholar from the EMBL, Heidelberg, Germany

1999 Frank White, Dept. of Cell Biology and Anatomy

2000 Bo Yang, Pharmacology/Toxicology Program, joint with R.Runyan

2000 Rob Lopez, Dept. of Molecular and Cellular Biology

2000 Scott Young, Dept. of Cell Biology and Anatomy

2000 Trude Reich, Visiting Student from Northern Arizona University

2001 Mamata Pochampalli, Dept. of Molecular and Cellular Biology

2002 Stryder Meadows, Dept. of Molecular and Cellular Biology

2003 Becki Burt, Dept. of Molecular and Cellular Biology

2004 Joseph Ahlander, Dept. of Molecular and Cellular Biology

2004 Sarah Mount-Patrick, Dept. of Molecular and Cellular Biology

2006 Heather Miles, Dept. of Molecular and Cellular Biology

2007 Katie Bliss, Dept. of Cell Biology and Anatomy

2007 Tina Wang, Dept. of Molecular and Cellular Biology

2007 David Briggs, Dept. of Molecular and Cellular Biology

2007 Chinedu Nworu, Dept. of Cell Biology and Anatomy

2008, 2009 Candace Myers, Dept. of Molecular and Cellular Biology

2009 Danielle Buck, Dept. of Molecular and Cellular Biology

2010 Stephanie Novak, Dept. of Cell Biology and Anatomy

2011 Sarah Parker, Arizona Biological and Biomedical Sciences Program

2011 Salwa Abdullah, Dept. of Cellular and Molecular Medicine

2011 Christine Henderson, Dept of Cellular and Molecular Medicine

2012 Nathan Sweeney, Arizona Biological and Biomedical Sciences Program

2012 Maura Cotter, Arizona Biological and Biomedical Sciences Program

2013 Julieanne Isabel Marx, Arizona Biological and Biomedical Sciences Program

2013 Man Cheong (Iris) Ma, Arizona Biological and Biomedical Sciences Program

2013 Nima Jamilpour, GIDP Bioengineering program

2014 Kelvin Pond, Arizona Biological and Biomedical Sciences Program

2014 Nikita Fernandes, Arizona Biological and Biomedical Sciences Program

2014 Nasiha Ahmed, Arizona Biological and Biomedical Sciences Program

Postdoctoral Fellows as Advisor/as Visiting Scholar

1998 Bernhard Kolmerer, Ph.D., Visiting Scholar from the EMBL, Heidelberg, Germany

Presently Group Leader, Schering A.G. Berlin, Germany

1998 - 2004 Abigail McElhinny, Ph.D., Presently Vice President, Ventana Medical Systems

2000 - 2003 Steven Kazmierski, Ph.D., Presently Patent Lawyer

2000 - 2003 Yasuko Ono, Ph.D., Presently Junior Faculty Member at The Tokyo Metropolitan Institute

of Medical Science

2003 - 2008 Gloria Conover, Ph.D., Presently Assistant Professor, Texas A and M

2005 - 2010 Takehiro Tsukada, Ph.D., Presently Assistant Professor, Department of Anatomy, School of

Medicine, Jichi Medical University

2005 - 2007 Laszlo Grama, Ph.D., Presently Assistant Professor, University of Pecs, Hungary

2006 - 2008 Anke Zieseniss, Ph.D., Presently Assistant Professor, University of Goettingen, Germany

2009 - pres. Christopher Pappas, Ph.D.

2012 - pres. Miensheng Chu, Ph.D.

2013 - 2014 Robert Kraft, Ph.D.

2015 - pres. Le Mi-Mi, Ph.D.

Service on Dissertation Committees, Other than as Advisor

1996 - 1998 Spontaneous McNight, Department of Molecular and Cellular Biology 1997 - 1999 Michael Collier, Department of Cell Biology and Anatomy 1997 - 2000 Erdin Gokay, Department of Cell Biology and Anatomy 1997 - 2003 Mischala Grill, Department of Cell Biology and Anatomy 1997 - 2004 Charles Putnam, Department of Molecular and Cellular Biology 1987 - 2002 George Bell, Department of Physiology 1999 - 2004 Anthony Person, Department of Cell Biology and Anatomy 2000 - 2002 Karen Pilcher, Department of Molecular and Cellular Biology 2000 - 2003 Scott Young, Department of Cell Biology and Anatomy 2000 - 2003 Delia Hernandez, Department of Cell Biology and Anatomy 2000 - 2003 Bo Yang, Department of Pharmacology and Toxicology 2000 - 2005 Nichole Washington, Department of Molecular and Cellular Biology 2000 - 2005 Trude Reich, Northern Arizona University 2002 - 2005 Corry Aldwart, Physiological Sciences 2002 - 2006 Robert Garriock, Department of Cell Biology and Anatomy 2002 - 2003 Drew Erickson, Department of Molecular and Cellular Biology 2004 - 2008 Kamika Kitt, Department of Cell Biology and Anatomy Jose Lopez, Department of Molecular and Cellular Biology 2005 - 2008 Kathy Hardy, Department of Cell Biology and Anatomy 2005 - 2010 Carlos Moran, Department of Cell Biology and Anatomy 2005 - 2008 Laurel Rogers, Department of Cell Biology and Anatomy 2006 - pres. Laura Krebs, Northern Arizona University 2007 - 2011 Matt Salanga, Department of Cell Biology and Anatomy 2009 - 2010 Nick King, Department of Cell Biology and Anatomy 2009 - 2014 Joey Klebba, Department of Cell Biology and Anatomy 2009 - 2013 Candace Myers, Department of Molecular and Cellular Biology 2009 - 2013 Kristin Renkema, Department of Immunobiology 2010 - 2014 Danielle Buck, Department of Molecular and Cellular Biology 2011 Daniel Schnurr, Department of Cellular and Molecular Medicine 2012 - pres. Mert Colpan, Washington State University, Pullman WA 2012 - pres. Salwa Abdullah, Department of Cellular and Molecular Medicine 2012 - 2015 Sarah Parker, Department of Cellular and Molecular Medicine 2013 - pres. Frank Li, Department of Cellular and Molecular Medicine 2013 - pres. Farah Bughio, Department of Cellular and Molecular Medicine 2014 - pres. Julieanne Isabel Marx, Department of Cellular and Molecular Medicine

GRANTS AND CONTRACTS (direct costs): International

1997 - 2001 Human Frontier Science Program Award - #RG242/97

"An Integrated Approach to the Molecular Functions of Titin and Nebulin"

Co-P.I. (PI, S.Labeit), 5% effort, Total: $950,474. To C.C.G: ~$170,000

1998 Burroughs Welcome Visiting Professorship Grant to fund Dr. W. James Nelson’s

(Stanford University) visit to the University of Arizona, PI, $5,000.

Federal 1997 - 1999 American Heart Association, Arizona Affiliate Standard Grant #AZGS4397

“Tropomodulin Function and Cardiac Myofibril Assembly”

PI, 50% effort, $80,000

Relinquished this award due to overlap.

1997 - 2002 National Institutes of Health, First Award (R29) #HL57461

"Tropomodulin Function and Cardiac Myofibril Assembly"

PI, 50% effort, $349,960

1999 National Institute of Health, Conference Grant for Weinstein Cardiovascular Development

Conference #R13HL60924

Co-PI (PI, R.Runyan)

1999 - 2004 National Institutes of Health, K02 - Independent Investigator Award - #HL03985

"Tropomodulin Function in Heart Development"

PI, 85% of salary, $381,053

Note, without a request, the NIH increased the budget every year after year 2.

2000 - 2006 National Institute of Health, PPG #HL63926

“Commitment and Differentiation of Cardiac Cell Phenotypes”

Project 5: “Function of Titin and a Novel Nebulin in Heart Development”

Co-PI (PI, R.Runyan), 25% effort. Total: $8,813,410. To project 5: ~$1,550,000.

2000 - 2005 National Institutes of Health, RO1

“Alcohol, Acetaminophen, and Liver Sinusoid Dysfunction”

Co-PI (PI, R.McCuskey), 5% effort. Total: $1,000,000.

2003 - 2012 National Institutes of Health, T32 HL007249

“Interdisciplinary Training in Cardiovascular Sciences”

Member of Training Faculty (PI, J. Burt). Total $1,862,765.

2002 - 2009 National Institutes of Health, RO1 #HL57461

"Tropomodulin Function and Cardiac Myofibril Assembly"

PI, 30% effort, $1,700,795 + $192,002 minority supplement

2007 - 2010 American Heart Association GIA 0655637Z

“Establishing Direct Functional Links Between Intermediate Filaments and Sarcomeres in Health and

Myopathies”

PI, 10% effort, $180,000

2007 - 2014 National Institutes of Health, RO1 #HL083146

“Deciphering the Roles of Nebulin in Cardiac Myofibril Assembly”

PI, 30% effort, $1,884,925 + $181,168 minority supplement

2009 - 2014 National Institutes of Health, T32

“Graduate Training in Biochemistry and Molecular Biology”

Associate Program Director, 5% effort, $2,680,380

2009 - 2012 American Heart Association, Scientist Development Grant

“Translational Control In Healthy And Hypertrophic Cardiac Muscle”

Collaborator (PI, D Zarnescu), 1% effort. Total: $280,000 2010 - 2011 National Institutes of Health, RO1 HL081386

“Novel Protein Kinase C Isoforms in Ventricular Myocytes”

PI, 20% effort, Total: $150,000

Grant was taken over from Jeffrey Walker, following his death

2010 - 2015 National Institutes of Health Directors Award, NIH 1DP2OD007161

“Mechanoregulation of Tissue Morphogenesis”

Co-Investigator (PI. P. Wong), 5% effort, $500,000

2012 - 2017 National Institutes of Health, RO1 #HL108625-01

“Deciphering the role of the RNA-binding protein, FXR1, in cardiac muscle assembly”

PI, 25% effort, Total: $1,345,500

2013 - 2017 National Institutes of Health, 2R01HL075619

“Integrative Approach to Divergent Remodeling in Thin Filament Cardiomyopathies”

Co-Investigator (PI. J. Tardiff), 5% effort

2014 - 2015 Parent Project Muscular Dystrophy (PPMD)

PI, 1% effort, Total $110,000

2015 - 2020 National Institutes of Health, RO1

“Deciphering the role of Lmod2 in thin filament length regulation and dilated cardiomyopathy” I, 20% effort, Total $2,269,944

University

1997 - 1998 Dean's Research Council Grant, University of Arizona,

"The Functional Significance of Tropomodulin-Tropomyosin Interactions"

PI, 5% effort, $15,000

https://commons.era.nih.gov/commons/genericStatus.do?actionRole=nonPI&applID=8133307&uhf-token=HDG4pAmHVVNcYAN4BToDp1GZ7mE%3D

1997 - 1998 Heart Center Grant, University of Arizona, #212820

"The Functional Significance of Titin with -Actinin in Cardiac Myocytes"

PI, $5,000

1998 Flinn Foundation Visiting Fellowship Award to fund Dr. Bernhard Kolmerer's

(European Molecular Biological Laboratory) visit to the U. of A.

PI, $5,000

1998 International Visitors Grant, University of Arizona, to fund Brigitte Jockush's

(Bielefeld University) visit to the U. of A., PI, $505

2001 Foreign Travel Grant, International Affairs, PI, $700

2001 Nielsen Trust Funds for Deconvolution Microscopy System for College of Medicine

Co-PI with Parker Antin, $175,000

2006 Foreign Travel Grant, International Affairs, PI, $850

2007 UA ADVANCE program, Co-PI, $35,000

2008 - 2009 Sarver Heart Center, Steven M. Gootter Investigator Award, PI, $25,000

2009 - 2011 UA Graduate Incentives For Growth Award (GIGA), PI, $90,000

2010 - 2011 Sarver Heart Center, William and Dorothy Shaftner Research Award, PI, $10,000

2010 - 2012 BIO5 Clinical and Translational Science Institute (CTSI) Award to hire Cardiovascular Science

Physician-Scientist $2,000,000

2012 - Pres. Deciphering the Contributions of Actin Filament Length Misregulation to Dilated Cardiomyopathy using

Embryonic Stem Cell-Derived Cardiac Myocytes, $34,653.00

2014 Jim and Linda Lee Research Grant, PI, $10,000

2015 Jim and Linda Lee Research Grant, PI, $10,000

Grants to Trainees (with C.C. Gregorio as mentor)

1997 - 1998 Jonathon Mayo, Graduate Student, Flinn Foundation: $30,000.

1998 - 1999 Jonathon Mayo, Graduate Student, ARCS Foundation Inc., Phoenix chapter Scholorship: $6,000.

1998 - 1999 Catherine McLellan, Graduate Student, American Heart Association Predoctoral

Research Fellowship (#9804186P): $26,400. She received the highest score in the country.

2000 - 2001 Diane Rudy, Graduate Student, American Heart Association Predoctoral Research

Fellowship (#0010138Z): $36,000.

1999 - 2001 Abigail McElhinny, Postdoctoral Fellow, position on a NHLBI Cardiac Physiology

Training Grant (HL07249): $55,576.

2000 - 2002 Steven Kazmierski postdoctoral fellow, position on the NHLBI Cardiac Physiology

Postdoctoral Training Grant (HL07249): $56,275.

2000 - 2001 Yasuko Ono, Postdoctoral fellow, Research Fellowship of the Japan Society for the

Promotion of Science (JSPS) for Young Scientists: $72,000.

2001 - 2003 Yasuko Ono, Research Fellow, The Japan Society for the Promotion of Science Postdoctoral Fellowships

for Research Abroad: $126,000.

2001 - 2004 Ryan Mudry, Graduate Student, National Science Foundation, Predoctoral Fellowship,

(#DGE - 9616023): $85,500.

2001 - 2004 Abigail McElhinny, Postdoctoral Fellow, American Heart Association Postdoctoral

Fellowship (#0120586Z): $125,796. 2002 - 2004 Cynthia Perry, Undergraduate Student, Western Alliance to Expand Student Opportunities (WAESO):

$3,000

2003 Melanie Miller, Graduate Student, ARCS Foundation Inc., Phoenix chapter: $11,000

2003 Christopher Pappas, Graduate Student, IGERT, ~$70,000

2004 - 2008 Abigail McElhinny, Postdoctoral Fellow, American Heart Association Scientist Development

Award: $260,000

2005 - 2008 Samantha Whitman, Graduate Student, position on the NHLBI Cardiac Physiology Training Grant

(HL07240): ~$75,000 2005 - 2006 Laszlo Grama, Postdoctoral Fellow, Bettie F. Pitts Cardiovascular Disease Award: $10,000

2006 - 2008 Samantha Whitman, Graduate Student, ARCS Foundation Inc., Phoenix chapter: $20,250

2006, 2007 Christopher Pappas, Graduate Student, ARCS Foundation Inc., Phoenix chapter: $13,500

2006 - 2008 Christopher Pappas, Graduate Student, American Heart Association Predoctoral Fellowship

Award: ~$54,000

2006 - 2007 Anke Zieseniss, Postdoctoral Fellow, Steven M. Gootter Memorial Heart Disease Research Award:

$25,000

2008 - 2010 Anke Zieseniss, Postdoctoral Fellow, American Heart Association Postdoctoral Fellowship:

~$140,000

2008 - 2009 Katie Bliss, Graduate Student, Predoctoral trainee, NIH HLBI Institutional Training Grant: $33,100

2008 - 2009 Takehiro Tsukada, Postdoctoral Fellow, University of Arizona Sarver Heart Center Walt and Vinne Hinz

Memorial Award for New Initiatives: $10,000

2008 - 2010 Takehiro Tsukada, Postdoctoral Fellow, American Heart Association Post Doctoral Fellowship: $96,600

2009 - 2010 Samantha Whitman, Graduate Student, American Heart Association Predoctoral Fellowship: $74,316

2010 - 2012 Katie Bliss, Graduate Student, American Heart Association Predoctoral Fellowship: $49,500

2012 - 2013 Christopher Pappas, Postdoctoral Fellow, Frank Frazer & Alex Frazer Award and Stephen

Michael Schneider Family Award: $20,000

2012 - 2014 Stefanie Novak, Graduate Student, American Heart Association Predoctoral Fellowship: $50,000

2012 - 2014 Stefanie Novak, Graduate Student ARCS Foundation Inc., Phoenix chapter: $20,250

2012 - 2014 Christopher Pappas, Postdoctoral Fellow, position on NHLBI Cardiac Physiology Training Grant

(HL07240): ~$90,000

2014 - 2015 Christopher Pappas, Postdoctoral Fellow, Steven M. Gootter Foundation Award: $25,000

2014 - 2016 Stefanie Novak, Graduate Student, NRSA (F31HL117520): $130,940

2016 - 2016 Christine Henderson, Graduate Student, University of Arizona Sarver Heart Center Finley and Florence

Brown Endowed Research Award: $25,000

2016 - 2017 Miensheng Chu, Postdoctoral Fellow, American Heart Association Postdoctoral Fellowship: $94,000

Curriculum Vitae

A. Identifying Data

Name: H. Eugene Hoyme, MD

Chief, Genetics and Genomic Medicine

Medical Director, Sanford ImageneticsTM

Sanford Health

Senior Advisor to the Office of the Director


The University of Arizona Health Sciences Center

Address: The Sanford Center 2301 East 60th Street North

Sioux Falls SD 57104-0589

Phone: (605) 312-6094 ● FAX: (605) 312-6556

Email: [email protected]

Mailing address:

1305 W 18th St., PO Box 5039

Sioux Falls, SD 57117-5039

Home mailing address:

4825 E Placita Tres Vidas

Tucson, AZ 85718-2613

Race/Ethnicity: Caucasian

Citizenship: U.S.A.

Medical Licensure: STATE DATE OF LICENSE NUMBER

LICENSURE AND/OR STATUS

South Dakota 2007 #7006; active

Arizona 1986 #15928; active

California 1977 #G36235; active

Hawaii 2003 inactive

New York 1983 inactive

Vermont 1981 inactive

B. Academic History

Colleges and Universities Attended:

1968-1972 Augustana College, Sioux Falls, SD

BA, Summa cum laude (Biology and Chemistry)

1972-1976 The University of Chicago Pritzker School of Medicine,

Chicago, IL

H. Eugene Hoyme, M.D.

2

MD

Pre-Doctoral Scholarships and Honors:

1969 Sophomore Honors (awarded to four sophomore students for superior

academic and leadership achievement), Augustana College, Sioux

Falls, SD

1969-1972 Beta Beta Beta Biological Honor Society

1972 Merck Award

1973 American Heart Association Medical Student Fellowship

Congenital Heart Disease Pathology

Mentor: Maurice Lev, MD, Hektoen Research Institute, Chicago, IL

Post-doctoral and Residency Training:

1976-1979 Intern, Assistant Resident, and Senior Assistant

Resident in Pediatrics (PL-1-PL-3): The University of California,

San Diego, School of Medicine, La Jolla

Program Director: Kenneth Lyons Jones, MD

1979-1981 Fellow in Dysmorphology and Clinical Genetics:

Division of Dysmorphology, Department of

Pediatrics, The University of California, San Diego,

School of Medicine, La Jolla

Program Director: Kenneth Lyons Jones, MD

International, Sabbatical, Study and Research Opportunities:

2004 Sabbatical Projects:

CIFASD - Collaborative Initiative on Fetal Alcohol Spectrum Disorders

(Sponsored by NIAAA):

1. A Prevalence Study of FASD among Children in the Lazio Region:

Alcohol Service, Department of Medicine, University of Rome

(Servizio Alcologia, Dipartimento di Medicina Clinica, Università La

Sapienza). Mauro Ceccanti, MD, host.

2. Investigation of Facial Morphometry as a Predictor of Brain

Malformations and/or Neuropsychological Abnormalities in Children

with FASD: Folkhälsan Research Center, University of Helsinki,

Finland. Ilona Autti-Rämö, MD, host.

2006 Program on Leadership Development for Physicians in Academic Health

Centers. Harvard School of Public Health, Harvard University, Boston,

MA. The curriculum emphasized fundamental leadership and

managerial issues for physician leaders in large complex health

systems:

Institutional Policy and Strategy

http://cifasd.org/


3

Financial Analysis and Control

Management of Operations

Clinical Performance Management

Organizational Issues

Conflict Resolution and Negotiation

Board Certification:

1977 Diplomate, National Board of Medical Examiners

1980 Diplomate, American Board of Pediatrics (#25284): Active

1984 Diplomate, American Board of Medical Genetics, Clinical Genetics

(#1710): Active

1987 Diplomate, American Board of Medical Genetics, Clinical Cytogenetics

(#870176): Active

C. Employment History

Academic/Executive Appointments:

Current: Sioux Falls, SD: Chief, Genetics and Genomic Medicine, Sanford Health

Medical Director, Sanford Imagenetics©

Senior Scientist, Sanford Research (Joint appointment: Center for

Health Outcomes and Prevention; Children’s Health Research Center)

Medical Director, Augustana-Sanford Master’s Program in Genetic

Counseling

Adjunct Professor, Department of Genetic Counseling, Augustana

University

Professor, Department of Pediatrics (Medical Genetics)

Sanford School of Medicine of the University of South Dakota

Tucson, AZ: Senior Advisor to the Office of the Director


The University of Arizona Health Sciences Center

Medical Director, University of Arizona Master’s Program in Genetic

Counseling

Clinical Professor, Departments of Pediatrics and Medicine

The University of Arizona College of Medicine


4

Previous:

2012-2015 Chief Academic Officer, Sanford Health

Sioux Falls, SD

2012-2015 President, Sanford Research

Sioux Falls, SD

2007-2012 Professor and Chair, Department of Pediatrics

Sanford School of Medicine of the University of South Dakota

Sioux Falls, SD

2007-2012 Chief Medical Officer

Sanford Children’s Hospital

Sioux Falls, SD

2008-2012 Senior Vice-President for Children’s Services

Sanford Clinic

Sioux Falls, SD

2012-2014 President, Sanford Applied Biosciences

Sioux Falls, SD

2011-2015 Chief Medical Officer, Profile Franchising, LLC

Sioux Falls, SD

1998-2007 Professor of Pediatrics

Stanford University School of Medicine, Stanford, CA

1998-2007 Clinical Professor of Pediatrics

University of California, San Francisco, School of Medicine

San Francisco

2001-2007 Associate Chair, Department of Pediatrics,


2003-2007 Mosbacher Family Distinguished Packard Fellow

Lucile Salter Packard Children’s Hospital at Stanford


1997 Acting Professor of Pediatrics, Stanford University

School of Medicine, Stanford, CA

1994-1997 Professor of Pediatrics, Pathology, Obstetrics and Gynecology (with

tenure), The University of Arizona College of Medicine, Tucson

1992 Acting Head, Department of Pediatrics, The University of Arizona

College of Medicine, Tucson

1991-1997 Associate Head, Department of Pediatrics, The University of Arizona



5

1991-1994 Associate Professor of Pathology, The University of Arizona College of

Medicine, Tucson

1989-1994 Associate Professor of Obstetrics and Gynecology, The University of

Arizona College of Medicine, Tucson

1988-1994 Associate Professor of Pediatrics, The University of Arizona College of

Medicine, Tucson

1986-1988 Assistant Professor of Pediatrics, The University of Arizona College of

Medicine, Tucson

1989-1997 Member, Interdisciplinary Graduate Committee on Genetics. The

Graduate College. The University of Arizona, Tucson

1981-1986 Assistant Professor of Pediatrics, The University of Vermont College of

Medicine, Burlington

Administrative Appointments

Current: Medical Director, Sanford Cytogenetics Laboratory, Sioux Falls, SD

Medical Director, Sanford Molecular Genetics Laboratory, Sioux Falls,

SD

Previous:

1997-2007 Chief, Division of Medical Genetics, Department of

Pediatrics, Stanford University School of Medicine,

Stanford, CA

1997-2007 Service Chief, Medical Genetics, Lucile Packard Children’s Hospital at

Stanford

1998-2007 Director, Stanford UCSF Residency Program in Medical Genetics

2000-2003 Associate Medical Director, Northern California, California Teratogen

Information Service

2000-2001 Administrative Director, Faculty Appointments and Promotions,

Department of Pediatrics, Stanford University School of Medicine,

Stanford, CA

1997-1999 Perinatal Diagnostic Center, Genetics Director, Lucile Packard

Children’s Hospital at Stanford, Stanford, CA


6

1986-1997 Chief, Section of Medical and Molecular Genetics, Department of

Pediatrics, The University of Arizona College of Medicine, Tucson

1993-1997 Director, Cytogenetics Core, Cytogenetic Oncology Program Project,

Arizona Cancer Center, The University of Arizona College of Medicine,

Tucson

1991-1997 Associate Medical Director, Clinical Cytogenetics Laboratory, University

Medical Center, Tucson, AZ

1993-1997 Medical Director, The University of Arizona Graduate Program in

Genetic Counseling, Tucson

1991-1997 Co-Director, Arizona Elks Comprehensive Program in Transplantation

Medicine. Department of Pediatrics and the Steele Memorial Children’s

Research Center, The University of Arizona College of Medicine, Tucson

1990-1992 Director, University of Arizona-Phoenix Integrated Genetics Program

1990-1997 Medical Director, Arizona State School for the Deaf and Blind, Tucson

1989-1997 Medical Director, Children’s Clinics for Rehabilitative Services, Tucson,

AZ

1987-1997 Medical Director, Arizona Teratogen Information Program Department

of Pediatrics, The University of Arizona College of Medicine, Tucson.

1985-1986 Director, The University of Vermont Program in Human Genetics,

Burlington

1983-1986 Medical Director, Vermont Regional Genetics Center, The University of

Vermont College of Medicine, Burlington

1983-1986 Medical Director, Vermont Teratogen Information Network, Burlington

1979-1981 Medical Director, San Diego Academy for Neurological Development,

San Diego, CA

Hospital/Clinic Appointments

Current:

2007- Attending in Pediatrics, Sanford USD Medical Center, Sioux Falls, SD

2009- Consulting in Pediatrics (Medical Genetics), Rapid City Regional

Hospital, Rapid City, SD

Previous:

2003-2007 Consulting in Pediatrics (Medical Genetics), Kapi’olani Medical Center

for Women and Children, Honolulu, HI


7

1997-2007 Attending in Pediatrics, Stanford University Hospital, Stanford, CA

1997-2007 Attending in Pediatrics, Lucile Packard Children’s Hospital at Stanford,

Stanford, CA

1998-2007 Attending in Pediatrics, The University of California, San Francisco,

Medical Center, San Francisco

1999-2007 Consulting in Pediatrics, El Camino Hospital, Mountain View, CA

2006-2007 Director, Down Syndrome Clinic, Lucile Packard Children’s Hospital at

Stanford, Stanford, CA

1992-1997 Consulting in Pediatrics, Yuma Regional Medical Center, Yuma, AZ

1991-1997 Consulting in Pediatrics, Flagstaff Medical Center, Flagstaff, AZ

1991-1997 Active Staff member in Pediatrics (Genetics/Dysmorphology),

Children’s Clinics for Rehabilitative Services, Tucson, AZ

1991-1993 Consulting in Pediatrics, Desert Hills Center for Youth and Families,

Tucson, AZ

1990-1991, 1996-1997 Provisional Staff member in Pediatrics (Genetics/Dysmorphology), St.

Joseph’s Hospital, Phoenix, AZ

1988-1991 Active Staff member in Pediatrics (Genetics/Dysmorphology), Tucson

Children’s Rehabilitative Services Medical/Dental Clinic, Tucson, AZ

1987-1988 Associate Staff member in Pediatrics (Genetics/Dysmorphology),

Tucson Children’s Rehabilitative Services Medical/Dental Clinic,

Tucson,

AZ

1986-1987 Provisional Staff member in Pediatrics (Genetics/Dysmorphology),

Tucson Children’s Rehabilitative Services Medical/Dental Clinic,

Tucson, AZ

1986-1997 Attending in Pediatrics, University Medical Center, Tucson, AZ

1986-1997 Attending in Pediatrics, Tucson Medical Center, Tucson,

AZ

1986-1997 Consulting in Pediatrics, St. Joseph’s Hospital, Tucson,

AZ

1986-1991 Consulting in Pediatrics, Palo Verde Hospital, Tucson,

AZ


8

1983-1986 Consulting in Pediatrics, Champlain Valley Physicians Hospital,

Plattsburgh, NY

1983-1986 Consulting in Pediatrics, General Hospital of Saranac Lake, Saranac

Lake, NY

1983-1986 Consulting in Pediatrics, Alice Hyde Hospital Association, Malone, NY

1983-1986 Consulting in Pediatrics and Genetics, The Sunmount Developmental

Center, Tupper Lake, NY

1981-1986 Attending in Pediatrics, Medical Center Hospital of Vermont, Burlington

1981-1983 Attending in General Ambulatory Pediatrics, University Pediatrics,

University Health Center, Burlington, VT

D. Public and Professional Service

Editorial Responsibilities

1986-1989 Editorial Board, Teratogen Knowledge Base, Medication Services, Inc.

1986-1989 Advisory Board, Center for Birth Defects Information Services, Inc.

1986-1992 Editorial Board, Teratology

1998-2001 Editorial Board, Pediatrics

1998-2005 Editorial Board, Genetics in Medicine

2000- Editorial Board, Clinical Genetics

2003- Editorial Board, Journal of FAS International

Current or Past Reviewer: Alcohol Clinical and Experimental Research

American Journal of Diseases of Children

American Journal of Medical Genetics

Archives of Disease in Childhood

Archives of Internal Medicine

Birth Defects Research

Cleft Palate Journal

Clinical Genetics

Clinical Genetics and Dysmorphology

Clinical Pediatrics

Fetal Diagnosis and Therapy

Gene Reviews

Genetica

Genetics in Medicine

Journal of Developmental & Behavioral Pediatrics

Journal of FAS International

Journal of Medical Genetics

Journal of Pediatrics

Journal of Perinatology

New England Journal of Medicine

Pediatrics

Prenatal Diagnosis


9

South Dakota Medical Journal

Teratology

Ad hoc Grant Reviewer: March of Dimes Birth Defects Foundation

NICHD: National Institute of Child Health and Human Development

Professional Service Activities

Local/State:

1979-1981 House staff Curriculum Committee and Residency Selection

Committee, The University of California, San Diego, School of

Medicine, Department of Pediatrics, La Jolla

1983 Dean’s Ad Hoc Committee for Determining Budgetary Alternatives for

the College of Medicine, University of Vermont, Burlington

1983-1986 Vermont State Genetics Services Coordinator, Vermont Department of

Health, Burlington

1984-1986 Credentials Committee, Department of Pediatrics, Medical Center

Hospital of Vermont, Burlington

1986-1997 Section Chiefs Committee, Department of Pediatrics, The University of


1986-1992 Housestaff Committee, Department of Pediatrics, The University of


1986-1989 Co-Chairman, Search Committee, Holsclaw Family Endowed

Professorship in Genetics and Inherited Diseases, Department of

Pediatrics, The University of Arizona College of Medicine, Tucson

1986-1987 Chairman, Teaching/Education Subcommittee for Long Range

Planning, Department of Pediatrics, The University of Arizona Health

Sciences Center, Tucson

1986-1987 Quality Assurance Committee, Children’s Rehabilitative Services Clinic,

Tucson, AZ

1987-1997 Newborn Metabolic Screening Committee, Arizona Department of

Health Services, Phoenix

1987-1997 Education Committee, Department of Pediatrics, The University of


1987-1991 Long Range Planning Committee, Square and Compass Children’s

Clinic, Tucson, AZ

1988-1997 Genetics Services Steering Committee, Arizona Department of Health

Services, Phoenix


10

1988-1992 Chairman, Genetics Services Steering Committee, Arizona Department

of Health Services, Phoenix

1988-1991 Chairman, Education Committee, Department of Pediatrics, The

University of Arizona College of Medicine, Tucson

1989-1991 Executive Committee (ex officio) member, Tucson Crippled Children’s

Services Medical/Dental Clinic, Tucson, AZ

1990-1991 Medical Biochemistry Course Review Subcommittee, The University of


1991-1995 Chairman, Section Chiefs Committee, Department of Pediatrics, The


1991-1997 Executive Committee (ex officio) member, Medical Staff, Children’s

Clinics for Rehabilitative Services, Tucson, AZ

1991-1997 Governing Board (ex officio) member, Children’s Clinics for

Rehabilitative Services Tucson, AZ

1992 Department Heads Council, University of Arizona College of Medicine,

Tucson

1992 Search Committee, Department Head of Pediatrics, Maricopa Medical

Center, Phoenix, AZ.

1992 Medical Staff Executive Committee, University Medical Center, Tucson,

AZ

1992 Clinical Department Heads Committee, University Medical Center,

Tucson, AZ

1992, 1993-1997 University Physicians, Inc., Board of Directors, Tucson, AZ

1992-1997 Provider Satisfaction Committee, University Medical Center, Tucson,

AZ

1992-1993 Search Committee, Department Head of Radiology, The University of


1993 Reimbursement Subcommittee, University Physicians, Inc., Board of

Directors, Tucson, AZ

1993-1997 Comprehensive Curriculum Analysis and Planning Project Analysis

Subcommittee, University of Arizona College of Medicine, Tucson

1993 Chairman, 25th Anniversary Planning Committee, Department of

Pediatrics, University of Arizona College of Medicine, Tucson

1993 Academic Review Committee, Department of Pediatrics, The University

of Arizona College of Medicine, Tucson


11

1995-1997 Clinical Steering Committee, Department of Pediatrics, The University

of Arizona College of Medicine, Tucson

1995-1997 Chairman, Clinical Steering Committee, Department of Pediatrics, The


1995-1997 Dean’s Faculty Advisory Committee, The University of Arizona College

of Medicine, Tucson

1995 Search Committee, Department Head of Obstetrics and Gynecology,


1997-2007 Division Chiefs Committee, Department of Pediatrics, Stanford

University School of Medicine

1997-2000 Perinatal Care Committee, Lucile Salter Packard Children’s Hospital at

Stanford

1998-1999 APM Operating Committee, Long Range Planning Committee for the

Department of Pediatrics, Stanford University School of Medicine

1998- 2000 Search Committee, Genetics Faculty Position, Department of

Psychiatry, Stanford University School of Medicine

1999-2002 Intern Selection Committee, Department of Pediatrics, Stanford


1998-2002 Appointment and Promotions Committee, Stanford University School of

Medicine

2000-2001 Associate Chair, Appointments and Promotions Committee, Stanford


2000-2007 Medical Executive Committee, Lucile Packard Children’s Hospital at

Stanford

2000-2007 Chair and non-voting member, Appointments and Promotions

Committee, Department of Pediatrics, Stanford University School of

Medicine

2001-2002 Search Committee, Chief, Division of Pediatric Pulmonary Medicine,

Department of Pediatrics, Stanford University School of Medicine

2001-2002 Chair, Appointments and Promotions Committee, Stanford University

School of Medicine

2001-2007 Associate Chairs Committee, Department of Pediatrics, Stanford


2001-2007 Chair, Space Committee, Department of Pediatrics, Stanford University

School of Medicine


12

2001-2007 Chair, Appointments and Promotions Committee, Stanford University

School of Medicine

2002-2007 Chair, Awards Committee, Department of Pediatrics, Stanford


2003-2007 Stanford Center for Biomedical Ethics Steering Committee, Stanford

University

2007-2012 Non-voting member, Pediatric Care Monitoring Committee, Sanford

Children’s Hospital

2007-2012 Non-voting member, Board of Directors, Sanford USD Medical Center

2007-2012 Non-voting member, Executive Committee, Sanford Children’s

Specialty Clinic

2007-2012 Non-voting member, Board of Governors, Sanford Clinic

2007- Administrative Council

Sanford School of Medicine of The University of South Dakota

2007-2011 Executive Committee


2007-2009 Chair, Search Committee

Director of the Sanford Children’s Health Research Center, Sioux Falls

campus

2008-2009 Chair, Search Committee

Broin Chair of the Sanford Project on Type 1 diabetes mellitus

2008-2009 Promotion and Tenure Committee


2011 Chair, Search Committee for Chair, Department of Surgery


Regional:

Western Society for Pediatric Research 1997-2000 Councilor

2006-2007 President-Elect

2007-2008 President

2008-2009 Past-President

1983-1986 Co-Chairman, Northern New England/Eastern Canadian Clinical

Genetics Conference

1983-1986 New England Regional Genetics Group Steering Committee

1984 Special Consultant, Massachusetts Department of Health,

Pregnancy/Environmental Hotline, Boston, MA


13

1986-1997 Educational and Technical Assistance Subcommittee, Mountain States

Regional Genetics Services Network

1986-1991 Chairman, Educational and Technical Assistance Subcommittee,

Mountain States Regional Genetics Services Network

1986-1991 Mountain States Regional Genetics Services Network Steering

Committee

1993-1997 Mountain States Regional Genetics Services Network, Clinical Services

Planning Committee

1997-1999 Prenatal Diagnostic Centers, Genetics Directors, California Department

of Health Services

1997-2007 Fiscal Policy Committee, Pacific Southwest Regional Genetics Network

National/International:

American Board of Medical Genetics: 1991-1999 Board Examination Item Writing Committee

1993-1999 Board of Directors

1993-1996 Treasurer

1993-1996 Clinical Genetics Book Chief, Board Examination Item Writing

Committee

1993-1999 Chairman, Education Committee

1993-1997 Accreditation Committee

1998-1999 Credentials Committee

American Society of Human Genetics: 1994-1997 Information and Education Committee

1998-2001 Board of Directors

American Academy of Pediatrics: 1986-1988 Representative (in genetics) to the PREP (Pediatrics Review and

Education Program) Topics Task Force

1992-1999 Executive Committee, Section on Genetics and Birth Defects

1992-1995 Chairman, Subcommittee on Graduate Education, Section on Genetics

and Birth Defects

1993-1994 Chairman, Program Committee, 1994 Section Annual Meeting, Section

on Genetics and Birth Defects

1995-1999 Chairman, Executive Committee, Section on Genetics and Birth Defects

1999-2001 Liaison to the Committee on Genetics, Section on Genetics and Birth

Defects

1999-2003 Committee on Genetics, Section Voting Member

1999-2004 National Conference and Exhibition Planning Group

2004-2006 Chair, Nominating Committee and ad hoc member Executive

Committee, Section on Genetics and Birth Defects

Teratology Society: 1986-1992 Publications Committee


14

1992-1995 Education Committee

1992-1993 Program Planning Committee, 1993 Annual Meeting

1993-1994 Secretary, Education Committee

1994-1995 Co-Chairman, Education Committee

David W. Smith Workshops on Malformations and Morphogenesis (International scientific symposia on dysmorphology and clinical genetics)

1986 Workshop Co-Chairman and Organizer, Burlington, VT

1991 Workshop Co-Chairman and Organizer, Lake Arrowhead, CA





American Board of Genetic Counseling 2000- Accreditation Site Visitor

Other Leadership Roles: 1985 Chairman, Intake Format Committee, National Human Teratology

Workshop, Philadelphia, PA.

1987-1992 National Advisory Board, Genetic Applications for Health Professionals

Education Project, University of Colorado Health Sciences Center.

1987-1991 Education Committee, National Council of Regional Genetics Networks

(CORN).

1990-1999 Teratology Subcommittee, Council of Regional Genetic Networks

(CORN).

2006-2010 Advisory Board, Pediatric BioBank.

2007 Invited Expert, Extramural Advisory Board on Fetal Alcohol

Spectrum Disorders, National Institute on Alcohol Abuse and

Alcoholism, Bethesda, MD

2015- Board of Directors, Rady Pediatric Genomics and Systems Medicine

Institute at Rady Children’s Hospital, San Diego

Community Service Activities

1980-1981 Board of Directors, Friends of Handicapped Children, San Diego, CA

1981-1983 Board of Directors, United Cerebral Palsy of Vermont, Montpelier

1981-1986 Member, Executive Board, March of Dimes Birth Defects Foundation,

Vermont Chapter, Montpelier

1981-1986 Member, Health Professional Advisory Committee, March of Dimes

Birth Defects Foundation, Vermont Chapter, Montpelier

1983-1986 Chairman, Health Professional Advisory Committee, March of Dimes


15

Birth Defects Foundation, Vermont Chapter, Montpelier

1986-1991 Member, Health Professional Advisory Committee, March of Dimes

Birth Defects Foundation, Southern Arizona Chapter, Tucson

1987-1989 Member, Executive Board, March of Dimes Birth Defects Foundation,

Southern Arizona Chapter, Tucson

1987-1989 Chairman, Health Professional Advisory Committee, March of Dimes

Birth Defects Foundation, Southern Arizona Chapter, Tucson

1988-1997 Professional Advisor, Southern Arizona Neurofibromatosis Support

Group, Tucson

1991-1997 Professional Advisor, Southern Arizona Chapter, Little People of

America, Tucson

2005-2007 Member, March of Dimes, California Chapter, Program Services

Committee

2007-2009 Member, Executive Committee, Sioux Council, Boy Scouts of America,

Sioux Falls, SD

Ronald McDonald House Charities of South Dakota, Sioux Falls

2010-2013 Member, Board of Directors

2011 Vice-President, Board of Directors

2012 President, Board of Directors

2013 Past President, Board of Directors

2010-2013 Member, Board of Directors, South Dakota Voices for Children

2013-2014 Member, Board of Directors, South Dakota Symphony

E. Post-Degree Honors and Awards

Teaching and Mentorship Awards

1985 “Teacher of the Year Award;” The University of Vermont College of

Medicine, Burlington

1988 “Teacher of the Year” nominations. Clinical and Basic Sciences;

The University of Arizona College of Medicine, Tucson

1989, 1996 “Teacher of the Year” nomination. Basic Sciences; The


1991 Vernon and Virginia Furrow Award for Excellence in Graduate

Education or Graduate Medical Education Teaching; The

University of Arizona College of Medicine, Tucson (Chosen by peer

faculty review)


16

1993 Dean’s List for Excellence in Teaching in the Basic Sciences; The

University of Arizona College of Medicine, Tucson (Awarded by the

Dean of the College of Medicine)

1994 “Teacher of the Year” nomination. Clinical Sciences; The


2011 Joseph W. St. Geme Jr. Education Award; The Western Society for

Pediatric Research (Awarded biannually for outstanding achievement in

pediatric education in the Western Region of the United States)

2015 Outstanding Mentor Award; The University of South Dakota Sanford

School of Medicine and Sanford Children’s Hospital (By vote of the

Faculty of the Department of Pediatrics)

2016 David W. Smith Award for Excellence in Genetics and Birth

Defects Education; The American Academy of Pediatrics (Awarded

annually to one individual to “recognize and honor a long and

distinguished career as an educator in the field of genetics and birth

defects.”)

Clinical Awards

2002 Nomination, Alwin C. Rambar-James B.D. Mark Award for

Excellence in Patient Care; Stanford University School of Medicine,

Stanford, CA.

Research Awards

2012 NOFAS Excellence Award; National Organization on Fetal Alcohol

Syndrome, Washington DC

Other Awards

2002 Alumni Achievement Award; Augustana College, Sioux Falls, SD

2003-2007 Mosbacher Family Distinguished Packard Fellow; Stanford

University School of Medicine, Stanford, CA.

2014 Spirit of Augustana Award for Research and Innovation;

Augustana College, Sioux Falls, SD

2014 Commencement Speaker; Augustana College, Sioux Falls, SD

“Sequencing Your Future”

2015 Distinguished Healthcare Professional Award; South Dakota

Association of Healthcare Organizations, Sioux Falls, SD

Visiting Professorships and Invited Lectureships

1984 Visiting Professor, University of Rochester School of Medicine and

Dentistry, Poison and Drug Information Center, Rochester, NY


17

1985 Visiting Professor, University of Connecticut School of Medicine,

Department of Pediatrics, Farmington

1990 Visiting Professor, University of Colorado School of Medicine,

Department of Pediatrics, Denver

1990, 2005, 2011 Visiting Professor, University of Utah School of Medicine, Department

of Pediatrics, Salt Lake City

1990 Seventh Annual Eric Denhoff Memorial Lectureship, Child Development

Center, Brown University School of Medicine, Providence, RI

1992 March of Dimes Visiting Professor, Cedars Sinai-UCLA School of

Medicine, Los Angeles, CA

1992 Visiting Professor, Medical Exchange Program, Zhejiang Provincial

Public Health Bureau, Hangzhou, China

1993 Visiting Professor, Arkansas Children’s Hospital, University of Arkansas

School of Medicine, Little Rock, AR

1994 Visiting Professor, Cardinal Glennon Children’s Hospital, St. Louis

University School of Medicine, St. Louis, MO

1994, 1995, 1998 Visiting Professor, University of South Dakota School of Medicine,

Department of Pediatrics, Sioux Falls

1995 Visiting Professor, University of Manitoba School of Medicine,

Department of Human Genetics, Winnipeg, Manitoba, Canada

1996, 2002 Visiting Professor, Gundersen Clinic, Gundersen Lutheran Medical

Center, LaCrosse, WI

1997 Academic Reviewer, Division of Pediatric Genetics, Department of

Pediatrics, University of Rochester School of Medicine and Dentistry,

Rochester, NY

1997, 1998 Visiting Professor, Columbus Children’s Hospital, Ohio State University

School of Medicine, Columbus

1997 Visiting Professor, Spanish Collaborative Birth Defects Monitoring

Program, Madrid, Spain

1999 Visiting Professor, Department of Human Genetics, South African

Institute for Medical Research and University of the Witwatersrand,

Johannesburg, South Africa

2000 Visiting Professor, Department of Pediatrics, The University of

California, Davis, School of Medicine, Davis

2002, 2005 Visiting Professor, Department of Human Genetics, University of Cape

Town School of Medicine, Cape Town, South Africa


18

2004, 2005 Visiting Professor, Alcohol Service, Department of Medicine, University

of Rome (Servizio Alcologia, Dipartimento di Medicina Clinica,

Università La Sapienza)

2004, 2005 Visiting Professor, Folkhälsan Research Center, Biomedicum Helsinki,

University of Helsinki, Finland

2004 Visiting Professor, Åbo Akademi University, Turku, Finland

2004 Visiting Professor, Ågrenska Academy, Gothenburg, Sweden

2006 Visiting Professor, Istituto di Ricovero e Cura a Carattere Scientifico,

Ospedale “Casa Sollievo della Sofferenza.” San Giovanni Rotondo,

Puglia, Italy

2007 Distinguished Alumni Lectureship, Augustana College, Sioux Falls, SD

2007 Visiting Professor, Waisman Center, Department of Pediatrics,

University of Wisconsin, Madison

2007 Visiting Professor, University of Cape Town, The Pediatric Neurology and

Developmental Association of South Africa, Cape Town, South Africa

2008 Visiting Lecturer, Arkansas Children’s Hospital, Little Rock, AR

2008 Visiting Lecturer, Department of Pediatrics, The University of Oklahoma

School of Medicine, Oklahoma City, OK

2008 Anthony B. DeFeo Lectureship, Department of Speech, Language, and

Hearing Sciences, The University of Arizona, Tucson, AZ

2008 Visiting Professor, Uppsala University Biomedical Center, Uppsala

Sweden


California, San Diego, School of Medicine and Rady Children’s Hospital,

San Diego, CA

2009 Visiting Professor, Department of Pediatrics, The University of Iowa

Carver College of Medicine, Iowa City, IA


Minnesota School of Medicine, Minneapolis, MN

2011 Visiting Professor, Waisman Center, Department of Pediatrics,

University of Wisconsin, Madison

2011 American Academy of Pediatrics Visiting Professor in Fetal Alcohol

Spectrum Disorders, University of Utah School of Medicine, Salt Lake

City


19


Nebraska College of Medicine, Omaha

2012 Visiting Professor, Department of Pediatrics, The University of Arizona


2013 Alpha Omega Alpha Visiting Professorship, The University of Mississippi

School of Medicine, Jackson

2014 Visiting Professor, Fetal Alcohol Spectrum Disorders Center of

Excellence, The University of Nevada, Reno

2015 Visiting Professor, Department of Pediatrics, The University of Michigan

School of Medicine, Ann Arbor

2016 Visiting Professor, Children’s Hospital of Greenville Health System,

Greenville, SC

Professional Societies

1981- American Academy of Pediatrics, Section on Genetics and Birth Defects

(Fellow)

1981-1986 Chittenden County and Vermont State Medical Societies

1981-1986 New England Regional Genetics Group

1983- American Society of Human Genetics

1984- Teratology Society

1986-1997 Mountain States Regional Genetics Services Network

1986-1997 Pima County Pediatric Society

1986-1997 Arizona Perinatal Society

1987- Western Society for Pediatric Research

1988-2007 International Organization of Teratogen Information Services (OTIS)

1991-2007 West Coast Teratology Society

1997-2007 Pacific Southwest Regional Genetics Network

2002- The American Pediatric Society (APS)

2002- The American College of Medical Genetics (Fellow)

2006- Research Society on Alcoholism

2007-2012 Association of Medical School Pediatric Department Chairs (AMSPDC)


20

2007- South Dakota State Medical Society

2008- South Dakota Perinatal Society

Major Research Interests

Human teratology; fetal alcohol spectrum disorders

The provision of clinical genetics services to underserved populations

Medical education: morphogenesis, malformations, clinical genetics, teratology, fetal alcohol spectrum

disorders

Vascular mechanisms of congenital structural defects

Hemihypertrophy and overgrowth syndromes

Perinatal genetics

Clinical cytogenetics

Grant And Contract Support (Principal Investigator, unless otherwise indicated)

Current:

1. National Institute on Alcohol Abuse and Alcoholism (NIAAA): “Fetal Alcohol Syndrome

Epidemiology Prevention and Research.” Philip A. May, Ph.D., P.I. University of North Carolina,

Chapel Hill and The Center on Alcoholism, Substance Abuse and Addiction, University of New

Mexico, Albuquerque. Dysmorphology subcontract. 2001- present (10% effort)

2. Oxnard Foundation: Identification of Predictors of Fetal Alcohol Spectrum Disorders in Infancy.

2005- present (10% effort).

3. National Institute on Alcohol Abuse and Alcoholism (NIAAA): “Collaborative Initiative on Fetal

Alcohol Spectrum Disorders (CIFASD).” Kenneth L Jones, M.D., PI, Dysmorphology Core. The

University of California, San Diego. Investigator, Dysmorphology Core (subcontract). 2006-

present (10% effort)

4. National Institute for Child Health & Development (NICHD): Prenatal Alcohol in Sudden Infant

Death Syndrome and Stillbirth (PASS) Network – Phase II. Amy J. Elliott, PhD, PI, Northern Plains

Comprehensive Clinical Sites. Sanford Research/USD. Dysmorphology Consultant. 2006 – (5%

effort)

5. National Institute on Minority Health and Health Disparities (NIMHD): Collaborative Research

Center for American Indian Health (CRCAIH). Director, Research Division. 2012- (5% effort)

Previous:

1. March of Dimes Birth Defects Foundation Training Fellowship, 1979-1981

2. March of Dimes Birth Defects Foundation Regional Grant: Vermont and Northern Adirondack

Chapter. “The Establishment of a Community Based System of Genetics Services.” 1983-1986


21

3. Vermont Regional Genetics Center Grant. Contractual agreement with the Vermont Department of

Health. 1983-1986

4. American Cancer Society Institutional Grant through the Vermont Regional Cancer Center. “The

role of environmentally induced somatic cell mutations in the pathogenesis of acute leukemia in the

Down Syndrome.” 1983-1984

5. Vermont Teratogen Information Network Grant. Contractual agreement with the Vermont

Department of Health. 1984-1986

6. Arizona Teratogen Information Program Grant. Arizona Disease Control Research Commission.

1986-1988

7. BRSG Grant, the University of Arizona College of Medicine. “The Teratogenicity of

Dicholoroethylene in a Chick Model.” 1988

8. March of Dimes Birth Defects Foundation Regional Grant: Greater Arizona and Southern Arizona

Chapters. “The Arizona Teratogen Information Program.” 1987-1989

9. SPRANS (Special Projects of Regional and National Significance) Grant: U.S. Department of Health

and Humans Services. Bureau of Health Care Delivery and Assistance. “A community based

genetics services network for Native Americans of the Southwest.” 1987-1990

10. SPRANS (Special Projects of Regional and National Significance) Grant: U.S. Department of Health

and Humans Services. Bureau of Health Care Delivery and Assistance. Subcontract through the

Mountain States Regional Genetics Services Network. “Regionalized teratogen counseling for

Arizona and New Mexico.” 1987-1997

11. Phoenix Integrated Genetics Program. Contractual agreement with Phoenix Children’s Hospital, St.

Joseph’s Children’s Health Center, and Arizona Institute for Genetics and Fetal Medicine for an

inter-site clinical genetics program in Maricopa County. 1992-1994

12. NCI Program Project: “Cytogenetic Oncology Program Project.” R. Taetle, M.D., P.I. H.E. Hoyme,

M.D., Director Cytogenetics Core. 1994-1995

13. Arizona Genetics Program. Contractual agreement with the Arizona Department of Health Services

for statewide pediatric clinical genetics program and oversight of newborn screening. 1993-1997

14. Indian Health Service Genetics Program. Contractual agreement with the Phoenix and Navajo

Areas of the Indian Health Service for comprehensive clinical genetics education and clinical

services. 1993-1997

15. Development of neurogenetics services at Lucile Salter Packard Children’s Hospital at Stanford, The

Carter Centers for Brain Research in Holoprosencephaly and Related Disorders. Genetics

subcontract. 1999-2001 (10% effort)

16. Minnesota Department of Health: “Piloting a Methodology for Early Detection of Factors Affecting

Learning, Growth and Psychosocial Development in Preschool Children.” Dysmorphology

subcontract. 2000-2002 (10% effort)

17. State of California Department of Health Services, Cancer Research Section, California Cancer

Research Program. “Program for Applied Cancer Genetics.” James M. Ford, M.D., Ph.D., PI. H.

Eugene Hoyme, M.D., Co-PI. 2000-2003 (10% effort)


22

18. Hawaii Community Genetics: Provision of Genetic Services for the State of Hawaii, Island of Oahu.

2003-2007 (25% effort)

19. National Institute on Alcohol Abuse and Alcoholism (NIAAA): “International Consortium on Fetal

Alcohol Spectrum Disorders. Dysmorphology Core.” Kenneth Lyons Jones, M.D., P.I. Division of

Dysmorphology and Teratology, Department of Pediatrics, The University of California, San Diego,

School of Medicine, La Jolla. Subcontract. 2004 (35% effort); 2005-2007 (10% effort).

20. National Institute for Child Health & Development (NICHD): The National Children’s Study. Bonny

Specker, PhD, PI South Dakota State University site. Dysmorphology Consultant. 2011-2012 (5%

effort).


23

Postdoctoral Fellows Trained

NAME AND DEGREE

CURRENT POSITION

Laurie Seaver, MD Associate Professor, University of Hawai’i School of

Medicine; Medical Director, Hawai’i Community

Genetics, Honolulu, HI

Barbara Friedman, MD Clinical Assistant Professor, University of

California, Davis, School of Medicine, Sacramento,

CA

Teresa Grebe, MD Clinical Associate Professor, University of Arizona

Phoenix Genetics Program, Phoenix, AZ

Margaret Pearson, MD Staff Geneticist, Neonatology Associates, Ltd.,

Phoenix, AZ

Andrea Storm, MD Geneticist and Pediatrician, Private Practice,

Durango, CO

Richard Olney, MD Team Leader, Pediatric Genetics, National Center

on Birth Defects and Developmental Disabilities,

Centers for Disease Control and Prevention,

Atlanta, GA

Melanie Manning, MD Associate Professor, Departments of Pathology and

Pediatrics, Stanford University School of Medicine,

Stanford, CA

Ruth Lin, MD Clinical Geneticist, Kaiser Permanente, San

Francisco, CA

Jeffrey Traynor, MD Geneticist and Maternal/Fetal Medicine Specialist,

Private Practice, Walnut Creek, CA

Anita Beck, MD, PhD Postdoctoral Fellow, Department of Genetics,

University of Washington School of Medicine,

Seattle, WA

Renata Gallagher, MD, PhD Associate Professor, Division of Clinical Genetics

and Metabolism, Department of Pediatrics,

University of Colorado School of Medicine, Denver,

CO

Margaret Adam, MD Professor, Division of Genetics and Developmental

Medicine, University of Washington School of

Medicine, Seattle, WA

Omar Abdul-Rahman, MD Professor, Division of Human Genetics,

Departments of Preventive Medicine and

Pediatrics, University of Mississippi School of

Medicine, Jackson, MS

Michael Lyons, MD Associate Staff Geneticist, Greenwood Genetic

Center, Charleston, SC

Joseph Shieh, MD, PhD Assistant Professor, Division of Medical Genetics,

Department of Pediatrics, The University of

California, San Francisco, School of Medicine, San

Francisco, CA

Thomas H. Cushing, JD, MD Assistant Professor, Department of Pediatrics,

University of New Mexico School of Medicine,


24

Albuquerque, NM

Kristina Cusmano-Ozog, MD Assistant Professor, Division of Genetics and

Metabolism, Department of Pediatrics, George

Washington University School of Medicine and

Children’s National Medical Center, Washington,

DC

Jonathan Bernstein, MD, PhD Clinical Associate Professor, Division of Medical

Genetics, Department of Pediatrics, Stanford

University School of Medicine, Stanford, CA

Junior Faculty Mentees Patricia Crotwell, PhD Assistant Professor, Department of Pediatrics, Sanford School of Medicine of

The University of South Dakota; Director Sanford Clinic/USD Cytogenetics

Laboratory, Sioux Falls, SD

Haotian Zhao, PhD Assistant Professor, Department of Pediatrics, Sanford School of Medicine of

The University of South Dakota; Associate Scientist, Sanford Research, Sioux

Falls

Michael Kruer, MD Assistant Professor, Department of Pediatrics, Sanford School of Medicine of


Falls

Michelle Baack, MD Assistant Professor, Department of Pediatrics, Sanford School of Medicine of


Falls

Siobhan Wescott, MD Assistant Professor, Department of Pediatrics, Sanford School of Medicine of


Falls

Samuel Milanovich, MD Assistant Professor, Department of Pediatrics, Sanford School of Medicine of


Falls


25

F. BIBLIOGRAPHY

Original Articles (145)

1. 1973 Prescott LM, Hoyme HE, Crockett D and Hui E: Carbohydrate metabolism in Acanthamoeba

castellanii. 1. The activity of key enzymes and (14C) glucose metabolism. Can J Microbiol

19:1131-1136, 1973.

2. 1981 Hoyme HE, Higginbottom MC and Jones KL: The vascular etiology of disruptive structural

defects in monozygotic twins. Pediatrics 67:288-291, 1981.

3. 1981 Hoyme HE, Jones KL, Higginbottom MC and O’Brien JS: Presentation of

mucopolysaccharidosis VII (beta glucuronidase deficiency) in infancy. J Med Genet 18:237-

240, 1981.

4. 1981 Hoyme HE, Higginbottom MC and Jones KL: The vascular pathogenesis of gastroschisis:

Intrauterine interruption of the omphalomesenteric artery. J Pediatr 98:228-231, 1981.

5. 1982 Page TE, Hoyme HE, Markarian M and Jones KL: Neonatal hemorrhage secondary to

thrombocytopenia: An occasional manifestation of prenatal hydantoin exposure. Birth

Defects Original Article Series 18(3A):47-50, 1982.

6. 1982 Hoyme HE, Jones KL and Jones MC: Recurrence risk of gastroschisis. J Pediatr 100:336-

339, 1982.

7. 1982 Van Allen MI, Hoyme HE and Jones KL: Vascular pathogenesis of limb defects: 1. Radial

artery anatomy in radial aplasia. J Pediatr 101:832-838, 1982.

8. 1982 Hoyme HE, Jones KL, Van Allen MI, Saunders BS and Benirschke K: The vascular

pathogenesis of transverse limb reduction defects. J Pediatr 101:839-843, 1982.

9. 1982 Woolf WW, Bradshaw CL, Hoyme HE, Jones KL and Jones OW: Adjacent 2 translocation

involving 13q and 21q. J Med Genet 19: 314-315, 1982.

10. 1983 Hoyme HE, Jones MC and Jones KL: Gastroschisis: Abdominal wall disruption secondary

to early gestational interruption of the omphalomesenteric artery. Seminars in Perinatology

7:294-298, 1983.

11. 1983 Hoyme HE, Van Allen MI and Jones KL: The vascular pathogenesis of some sporadically

occurring limb defects. Seminars in Perinatology. 7:299-306,1983.

12. 1983 Mascarello JT, Jones MC, Hoyme HE and Freebury M: Partial trisomy 17 in a child with an

isodicentric chromosome derived from chromosome 17. Am J Med Gent 14:67-72, 1983.

13. 1985 Hoyme HE: Intellectual functioning and ectodermal dysplasia. Pediatrics 75:126-129,

1985.

14. 1986 Ardinger HH, Hanson JW, Harrod MJE, Cohen MM, Tibbles JAR, Welch JP, Young-Wee T,

Sommer A, Goldberg R, Shprintzen RJ, Sidoti EJ, Leichtman LG and Hoyme HE: Further

delineation of Weaver Syndrome. J Pediatr 108:228-235,1986.


26

15. 1986 Soper SP, Roe LR, Hoyme HE and Clemmons JJ: Trisomy 18 with ectopia cordis,

omphalocele, and ventricular septal defect: Case report. Pediatr Pathol 5:481-484, 1986.

16. 1987 Hoyme HE, Musgrave SD, Browne AF and Clemmons JJ: Congenital oral tumor associated

with neurofibromatosis detected by prenatal ultrasound. Clin Pediatr 26:372-375, 1987.

17. 1987 Hoyme HE, Jones KL, Nyhan WL, Pauli RM and Robinow M: Autosomal dominant

ectrodactyly and absence of long bones of the upper and/or lower limbs: Further clinical

delineation. J Pediatr 111:538-543, 1987.

18. 1987 Witt DR, Hoyme HE, Zonana J, Manchester DK, Fryns JP and Hall JG: Lymphedema in

Noonan Syndrome: Clues to pathogenesis and prenatal diagnosis and review of the

literature. Am J Med Genet 27:841-856, 1987.

19. 1987 Grad R, Sammut PH, Britton JR, Goodrich P, Hoyme HE and Dambro NN: Bronchoscopic

evaluation of airway obstruction in campomelic dysplasia. Pediatr Pulmonol 3:364-367,

1987.

20. 1987 Robinson LK, Hoyme HE, Edwards DK and Jones KL: The vascular pathogenesis of

unilateral craniofacial defects. J Pediatr 111:236-239, 1987.

21. 1987 Hoyme HE: Minor Malformations: Significant or insignificant? (Invited Editorial) Am J Dis

Child 141:947-948, 1987.

22. 1987 Hoyme HE: Book review: Milunsky A (ed): Genetic disorders and the fetus: Diagnosis,

prevention, and treatment (ed 2). Am J Dis Child 141:1062, 1987.

23. 1988 Kreutz JM and Hoyme HE: The Levy-Hollister Syndrome. Pediatrics 82:96-99,1988.

24. 1988 Hoyme HE: The etiology and pathogenesis of sirenomelia. Teratology 38:485-489, 1988.

25. 1990 Hoyme HE, Jones KL, Dixon SD, Jewett T, Hanson JW, Robinson LK, Msall ME and Allanson

J: Prenatal cocaine exposure and fetal vascular disruption. Pediatrics 85:743-747, 1990.

26. 1990 Der Kaloustian VM, Hoyme HE, Hogg H, Entin M and Guttmacher A: Possible common

pathogenetic mechanisms for the Poland sequence and Adams-Oliver syndrome. Am J Med

Genet 38:69-73, 1990.

27. 1990 Byrne-Essif KE and Hoyme HE: Identification of a balanced translocation carrier by

spouse’s low maternal serum alpha-fetoprotein. J Med Genet 27:727-30, 1990.

28. 1990 Hoyme HE: Teratogenic causes of fetal anomalies. Perinatal Clinics of North America

17:547-67, 1990.

29. 1991 Dobyns WB, Curry CJR, Hoyme HE, Turlington L and Ledbetter DH: Clinical and molecular

diagnosis of Miller-Dieker syndrome. Am J Hum Genet 48:584-94, 1991.

30. 1991 Hoyme HE: Fetal vascular disruption following prenatal exposure to cocaine or

methamphetamine. Pediatrics 87:416-419, 1991.

31. 1992 Goldberg SJ, Dawson BV, Johnson PD, Hoyme HE and Ulrich JB: Cardiac teratogenicity of

dichloroethylene in a chick model. Pediatric Res 32:23-26, 1992.


27

32. 1992 Hoyme HE, Der Kaloustian VM, Hogg H, Entin MA and Guttmacher AE: Possible common

pathogenetic mechanisms for Poland sequence and Adams-Oliver syndrome: An additional

clinical observation. Am J Med Genet 42:398-402, 1992.

33. 1992 Seaver LH and Hoyme HE: Teratology in Pediatric Practice. Pediatric Clinics of North

America 39:111-134, 1992.

34. 1992 Graham JM, Curry CJR, Hoyme HE, Stevenson RE and Hall JG: Fellowships and career

development in dysmorphology and clinical genetics. Pediatric Clinics of North America

39:349-362, 1992.

35. 1993 Meyer DJ, Hoyme HE, Attico NB and Allen C: The medical evaluation in cases of fetal

demise. IHS Primary Care Provider 18:61-64, 1993.

36. 1993 Seaver LH, Joffe L, Spark RP, Smith BL and Hoyme HE: Congenital scalp defects and

vitreoretinal degeneration: Redefining the Knobloch syndrome. Am J Med Genet 46: 203-

208, 1993.

37. 1993 Weksberg R, Teshima I, Williams BRG, Greenberg CR, Pueschel SM, Chernos JE, Fowlow SB,

Hoyme HE, Anderson IJ, Whiteman DAH, Fisher N and Squire J: Molecular characterization

of cytogenetic alterations associated with the Beckwith-Wiedemann syndrome (BWS)

phenotype refines the localization and suggests the gene for BWS is imprinted. Hum Molec

Genet 2:549-556, 1993.

38. 1993 Grebe TA, Rimsza ME, Hanson RC, Richter SF and Hoyme HE: Expanding the clinical

spectrum of epidermal nevus syndrome: Two cases with new findings and literature review.

Am J Med Genet 47:24-30, 1993.

39. 1993 Perez-Aytes A, Graham JM, Hersh JH, Hoyme HE, Aleck KA and Carey JC: Urethral

obstruction sequence and lower limb deficiency: Evidence for the vascular disruption

hypothesis. J Pediatr 123:398-405, 1993.

40. 1993 Hoyme HE: Minor anomalies: Diagnostic clues to aberrant human morphogenesis.

Genetica 89:307-315, 1993.

41. 1993 Greenlee R, Hoyme HE, Witte M, Crowe P and Witte C: Developmental disorders of the

lymphatic system. Lymphology 26:156-168, 1993.

42. 1994 Pearson MA, Hoyme HE, Seaver LH and Rimsza ME: Toluene embryopathy: Delineation of

the phenotype and comparison with fetal alcohol syndrome. Pediatrics 93:211-215, 1994.

43. 1994 Lubinsky MS, Kahler SG, Speer IE, Hoyme HE and Lurie IW: The Von Voss-Cherstvoy

syndrome: A variable perinatal lethal syndrome of multiple congenital anomalies and

thrombocytopenia. Am J Med Genet 52:272-278, 1994.

44. 1996 Bird LM, Billman GF, Lacro RV, Spicer RL, Jariwala LK, Zamora-Salinas R, Hoyme HE,

Morris C, Viskochil D, Frikke MJ and Jones MC: Sudden death in patients with supravalvar

aortic stenosis and Williams syndrome: Report of eleven cases and review of the literature.

J Pediatr 129:926-931, 1996.

45. 1997 Toriello HV, Carey J, Suslak E, Deposito F, Leonard B, Lipson M, Friedman BD and Hoyme

HE: Oral-Facial-Digital Syndrome IV: The Case for Heterogeneity. Am J Med Genet

69:250-260, 1997.


28

46. 1998 Cunniff C, Curtis M, Hassed SJ and Hoyme HE: Blepharophimosis: A causally

heterogeneous malformation frequently associated with developmental disabilities. Am J

Med Genet 75:52-54, 1998.

47. 1998 Hoyme HE, Seaver LH, Jones KL, Procopio F, Crooks W and Feingold M: Isolated

hemihyperplasia (hemihypertrophy): Report of a prospective multi-center study of the

incidence of neoplasia and review of the literature. Am J Med Genet 79:274-278, 1998.

48. 1998 Witte MH, Erickson R, Bernas M, Andrade M, Reiser F, Conlon W, Hoyme HE and Witte CL:

Phenotypic and genotypic heterogeneity in familial Milroy lymphedema. Lymphology

31:145-155, 1998.

49. 1998 Hoyme HE: Invited Editorial Commentary on Nadler HL: Antenatal detection of hereditary

disorders. In Pediatrics, 50th Anniversary Supplement. Pediatrics 102: (Supplement):247-

249, 1998.

50. 2000 Hoyme HE: A clinical genetics and dysmorphology approach to growth deficiency. Ped

Annals 29:549-555, 2000.

51. 2000 Frias J, Levine LS, Oberfield SE, Pang S, Silverstein J, Schwartz RP, Hansen IL, Kaufman F,

Kumar Varma S, Levitsky L, Suriano MJ, Cunniff C, Kaye C, Moeschler JB, Panny SR, Trotter

TL, de la Cruz F, Williams J, Hanson JW, Moore CA, Lloyd-Puryear M and Hoyme HE:

American Academy of Pediatrics Technical Report. Congenital adrenal hyperplasia.

Pediatrics 106: 1511-1518, 2000.

52. 2000 Cunniff C, Frias JL, Kayak, Moeschler JB, Panny SR, Trotter TL, de la Cruz F, Williams J,

Hanson JW, Moore CA, Lloyd-Puryear M, Cho S, Desposito F and Hoyme HE: American

Academy of Pediatrics Committee on Genetics. Molecular genetic testing in pediatric

practice: A subject review. Pediatrics 106: 1494-1497, 2000.

53. 2001 Cunniff C, Frias JL, Kaye C, Moeschler JB, Panny SR, Trotter TL, de la Cruz F, Williams J,

Hanson JW, Moore CA, Lloyd-Puryear M, Hoyme HE and Wappner RS: American Academy

of Pediatrics Committee on Genetics Policy Statement. Maternal Phenylketonuria.

Pediatrics 107: 427-428, 2001.


Hanson JW, Moore CA, Lloyd-Puryear M, Hoyme HE, Bull MJ, Cohen WI, Desposito F,

Pletcher BA, Roizen N and Wappner R: American Academy of Pediatrics Committee on

Genetics Policy Statement. Health supervision for children with Down syndrome. Pediatrics

107: 442-449, 2001.


Hanson JW, Moore CA, Lloyd-Puryear M, Hoyme HE, Kaplan P, Lacro R, Levine K, Levinson

M, Morris C, Pletcher BA, Pober B and Sadler L: American Academy of Pediatrics Committee

on Genetics Policy Statement. Health Care Supervision for children with Williams syndrome.

Pediatrics 107: 1192-1204, 2001.

56. 2001 Olney RS, Hoyme HE, Roche F, Ferguson K, Hintz S and Madan A: Limb/pelvis-

hypoplasia/aplasia with skull defect (Schinzel phocomelia): Distinctive features and

prenatal detection. Am J Med Genet 103: 295-301, 2001.


29

57. 2002 Hintz SR, Matern D, Strauss A, Bennett M, Hoyme HE, Schelley S, Kobori J, Colby C,

Lehman NL and Enns GM: Early neonatal diagnosis of long chain 3-hydroxyacyl-coenzyme

A dehydrogenase and trifunctional protein deficiencies. Mol Genet Metab 75: 120-127,

2002.

58. 2002 Lane PA, Buchanan GR, Desposito F, Pegelow CH, Vichinsky EP, Wethers DL, Woods, GM,

Berkow RL, August CS, Corrigan J, Feig SA, Hutter J, Cunniff, C, Frias J, Kaye C, Moeschler

T, Trotter T, Hoyme HE, Hanson JW, Lloyd-Puryear M, Moore CA and Schulman LP:

American Academy of Pediatrics Section on Hematology/Oncology Committee on Genetics

Policy Statement. Health Supervision for Children With Sickle Cell Disease. Pediatrics 109:

526-535, 2002.

59. 2002 Pletcher BA, Jewett EAB, Cull WL, Brotherton SE, Hoyme HE, Pan RJD and Mulvey HJ: The

Practice of Clinical Genetics: A Survey of Practitioners. Genetics in Medicine 4:142-149,

2002.

60. 2002 Lower KM, Turner G, Bronwyn JK, Mathews KD, Shaw MA, Gedeon AK, Schelley S, Hoyme

HE, White SL, Delatycki M, Lampe AK, Clayton-Smith J, Stewart H, van Ravenswaay CMA,

de Vries B, Cox B, Grompe M, Ross S, Thomas P, Mulley JC and Gecz J: Mutations in a

novel PHD finger gene, PHF6, cause Börjeson -Forssman-Lehmann syndrome. Nature

Genetics 32:661-665, 2002.

61. 2002 Tsai YJ and Hoyme HE: Pharmacogenomics: The Future of Drug Therapy? Clinical

Genetics 62:257-264, 2002.

62. 2002 Hoyme HE and Greydanus D (eds): Genetics and Dysmorphology in the Adolescent. State

of the Art Reviews: Adolescent Medicine. Philadelphia, Hanley and Belfus, Inc. Volume

13(2), 2002.

63. 2002 Manning MA and Hoyme HE: Klinefelter Syndrome: Diagnosis and Management in

Adolescence, in Hoyme HE and Greydanus D (eds): Genetics and Dysmorphology in the

Adolescent. State of the Art Reviews: Adolescent Medicine 13:367-74, viii, 2002

64. 2002 Lin RL, Cherry AM, Bangs CD and Hoyme HE: FISHing for Answers: The Use of Molecular

Cytogenetic Techniques in Adolescent Medical Practice, in Hoyme HE and Greydanus D

(eds): Genetics and Dysmorphology in the Adolescent. State of the Art Reviews:

Adolescent Medicine 13:305-13, vi, 2002.

65. 2002 Olney RS and Hoyme HE: (Letter). Response regarding: Limb/pelvis-hypoplasia/aplasia

with skull defect (Schinzel phocomelia): Distinctive features and prenatal detection. Am J

Med Genet 111:458, 2002.

66. 2003 Lin RL, Cherry AM, Bangs CD and Hoyme HE: FISHing for answers: The use of molecular

cytogenetic techniques in neonatology. Neoreviews 4: e94-e98, 2003.

67. 2003 Casper RC, Fleisher BE, Lee JC, Gilles A, Debattista A and Hoyme HE: Follow-up of

children of mothers with major depressive disorder, exposed or not exposed to

antidepressant drugs during pregnancy. J Pediatrics 142:402-408, 2003.

68. 2003 Aylsworth A, Graham JM Jr, Hall JG, Hoyme HE, Jones KL and Stevenson RE:

Morphogenesis: Re: Clinical, natural history, and imaging information on patients included

in reports. Am J Med Genet 119:93, 2003.

http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=12707969&dopt=Abstract




30

69. 2003 Aylsworth A, Graham JM Jr, Hall JG, Hoyme HE, Jones KL and Stevenson RE:

Morphogenesis: Re: Clinical, natural history, and imaging information on patients included

in reports. Pediatr Radiol 33:146, 2003.

70. 2003 Holve S, Friedman BD, Hoyme HE, Tarby TJ, Johnstone S, Erickson RP, Clericuzio CL, and

Cunniff C: Athabascan brainstem dysgenesis syndrome. Am J Med Genet 120A:169-173,

2003.

71. 2003 Adam MP, Clericuzio CL, Manning MA, Beck AE, Kwan A, Enns GM and Hoyme HE:

Fetal outcome in failed first trimester medical abortion: Report of four cases of

methotrexate/misoprostol embryopathy. Am J Med Genet 123A: 72-78, 2003.

72. 2003 Toriello HV, Carey JC, Addor MC, Allen W, Burke L, Chun N, Dobyns W, Elias E, Gallagher R,

Hordijk R, Hoyme HE, Irons M, Jewett T, LeMerrer M, Lubinsky M, Martin R, McDonald-McGinn

D, Neumann L, Newman W, Pauli R, Seaver L, Tsai A, Wargowsky D, Williams M and Zackai E:

Toriello-Carey syndrome: Delineation and review. Am J Med Genet 123A: 84-90, 2003.

73. 2004 Turner G, Lower KM, White SL, Delatycki M, Lampe AK, Wright M, Clayton Smith J, Kerr B,

Schelley S, Hoyme HE, DeVries BBA, Kleefstra T, Grompe M, Cox B, Gecz J and Partington M:

The clinical picture of the Börjeson–Forssman-Lehmann syndrome in males and heterozygous

females with PHF6 mutations. Clin Genet 65: 226-232, 2004.

74. 2004 Manning MA, Cunniff CM, Colby CE, El-Sayed YY and Hoyme HE: Neu-Laxova syndrome:

Detailed prenatal diagnostic and post-mortem findings and literature review. Am J Med

Genet 125A: 240-249, 2004.

75. 2004 Schwarze U, Hata R, McKusick VA, Shinkai H, Hoyme HE, Pyeritz RE and Byers PH: Rare

autosomal recessive cardiac valvular form of Ehlers-Danlos Syndrome results from mutations

in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway. Am J Hum

Genet 74: 917-930, 2004.

76. 2004 May PA, Gossage JP, White-Country M, Goodhart K, DeCoteau S, Trujillo P and Hoyme HE:

Alcohol consumption and other maternal risk factors for fetal alcohol syndrome among three

distinct samples of women before, during, and after pregnancy: The risk is relative. Am J

Med Genet 127C: 10-20, 2004

77. 2004 Manning MA, Cassidy SB, Clericuzio C, Cherry AM, Schwartz S, Hudgins L, Enns GM and

Hoyme HE: Terminal 22q deletion syndrome: A newly recognized cause of speech and

language disability in the autism spectrum. Pediatrics 114: 451-457, 2004.

78. 2005 Hoyme HE, May PA, Kalberg WO, Kodituwakku P, Gossage JP, Trujillo PM, Buckley DG,

Miller JH, Aragon AS, Khaole N, Viljoen DL, Jones KL and Robinson LK: A practical clinical

approach to diagnosis of fetal alcohol spectrum disorders: Clarification of the 1996 Institute

of Medicine criteria. Pediatrics 115: 39-47, 2005.

79. 2005 Slavotinek A, Goldman J, Weisiger K, Kostiner D, Golabi M, Packman S, Wilcox W, Hoyme

HE and Sherr E: Marinesco-Sjögren syndrome in a male with mild dysmorphism. Am J Med

Genet 133A:197-201, 2005.

80. 2005 Johnston JJ, Olivos-Glander I, Killoran C, Elson E, Turner JT, Peters KF, Abbott MH, Aughton

DJ, Aylsworth AS, Bamshad MJ, Booth C, Curry CJ, David A, Dinulos MB, Flannery DB, Fox

MA, Graham JM, Grange DK, Guttmacher AE, Hannibal MC, Henn W, Hennekam RC, Holmes

LB, Hoyme HE, Leppig KA, Lin AE, Macleod P, Manchester DK, Marcelis C, Mazzanti L,





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McCann E, McDonald MT, Mendelsohn NJ, Moeschler JB, Moghaddam B, Neri G, Newbury-

Ecob R, Pagon RA, Phillips JA, Sadler LS, Stoler JM, Tilstra D, Walsh Vockley CM, Zackai EH,

Zadeh TM, Brueton L, Black GC and Biesecker LG.: Molecular and clinical analyses of Greig

cephalopolysyndactyly and Pallister-Hall syndromes: Robust phenotype prediction from the

type and position of GLI3 mutations. Am J Hum Genet 76:609-22, 2005.

81. 2005 Beck AE, Hudgins L and Hoyme HE: Autosomal dominant microtia and ocular coloboma:

New syndrome or extension of the oculo-auriculo-vertebral spectrum? Am J Med Genet

134:359-62, 2005.

82. 2005 Hoyme HE: (Letter). Response regarding: A practical clinical approach to diagnosis of

fetal alcohol spectrum disorders: Clarification of the 1996 Institute of Medicine criteria.

Pediatrics 115:1787-1788, 2005.

83. 2005 Wyatt JW, Frias JL, Hoyme HE, Jovanovic L, Kaaia R, Brown F, Garg S, Lee-Parritz A, Seely,

EW, Kerr L, Mattoo V and Tan M: Congenital anomaly rate in infants of mothers with pre-

gestational diabetes who used insulin lispro during pregnancy. Diabetic Medicine 22:803-

807, 2005.

84. 2005 Adam MP, Hennekam RC, Keppen LD, Bull MJ, Clericuzio CL, Burke LW, Guttmacher AE,

Ormond KE and Hoyme HE: Marshall-Smith Syndrome: Natural history and evidence of an

osteochondrodysplasia with connective tissue abnormalities. Am J Med Genet 137A:117–

124, 2005.

85. 2005 Lin RJ, Chen KC, Cherry AM, Hoyme HE, Lyons M and Hudgins L: Terminal deletion of 6p

results in a recognizable phenotype. Am J Med Genet 136A(2):162-168, 2005.

86. 2005 Adam MP, Chueh J, El-Sayed YY, Stenzel A, Vogel H, Weaver DD and Hoyme HE: Vascular-

type disruptive defects in fetuses with homozygous alpha-thalassemia: Report of two cases

and review of the literature. Prenat Diagn 25(12):1088-96, 2005.

87. 2005 Viljoen DL, Gossage JP, Adnams C, Jones KL, Robinson LK, Hoyme HE, Snell C, Khaole N,

Asante KK, Findlay R, Quinton B, Brooke LE and May PA: The epidemiological

characteristics of fetal alcohol syndrome in a South African community of the Western Cape

Province: Findings from a second active case ascertainment study. J Studies Alcohol

66(5):593-604, 2005.

88. 2005 Hoyme HE: (Letter) Refining the diagnostic criteria of FASD. J FAS Int 3:e18, 2005.

89. 2005 Spagnolo PA and Hoyme HE: Fetal alcohol spectrum disorders: Practical clinical

evaluation and diagnosis. Ital J Pediatr 31:244-253, 2005.

90. 2005 Shieh JTC, Hudgins L, Cherry AM, Shen Z and Hoyme HE: Triplication of 8p22-8p23 in a

patient with features similar to Kabuki syndrome. Am J Med Genet 140(2):170-173, 2006.

91. 2005 Autti-Rämö I, Fagerlund Å, Ervalahti N, Korkman M and Hoyme HE: Fetal alcohol spectrum

disorders in Finland: Clinical delineation of 77 older children and adolescents. Am J Med

Genet A 140(2):137-43, 2006.

92. 2006 McDonald-McGinn DM, Reilly A, Wallgren-Pettersson C, Hoyme HE, Yang SP, Adam MP,

Zackai EP and Sullivan KE: Malignancy in chromosome 22q11.2 deletion syndrome

(DiGeorge syndrome/velocardiofacial syndrome). Am J Med Genet A 140:906-9, 2006.





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93. 2006 Shieh JTC, Aradhya S, Manning MA, Cherry AM, Brumblay J, Seaver LH, Salpietro CD,

Bernardini L, Novelli A, Dallapiccola B and Hoyme HE: Nablus mask-like facial syndrome is

caused by a microdeletion of 8q detected by array-based comparative genomic

hybridization. Am J Med Genet A 140:1267-73, 2006.

94. 2006 May PA, Fiorentino D, Gossage JP, Kalberg WO, Hoyme HE, Robinson LK, Coriale G, Jones

KL, del Campo M, Tarani L, Romeo M, Kodituwakku PW, Deiana L, Buckley D and Ceccanti

M: The epidemiology of FASD in a province in Italy: Prevalence and characteristics of

children in a random sample of schools. Alcohol Clin Exp Res 30:1562-1575, 2006.

95. 2006 Shieh JTC, Swidler P, Balboni I, Kaplan J, Kennedy J, Abdul-Rahman O, Enns GM,

Martignetti JA, Ramirez MCM, Sandborg C, Slavotinek A and Hoyme HE: Expanding the

clinical phenotype of systemic hyalinosis: A distinctive rheumatologic disorder characterized

by mutations in the capillary morphogenesis-2 (CMG2) gene. Pediatrics 118(5):e1485-92,

2006.

96. 2006 Kalberg WO, Provost B, Tollison SJ, Tabachnick BG, Robinson LK, Hoyme HE, Trujillo PM,

Buckley D, Aragon AS and May PA: Comparison of motor delays in young children with fetal

alcohol syndrome to those with prenatal alcohol exposure and with no prenatal alcohol

exposure. Alcohol Clin Exp Res 30(12):2037-45, 2006.

97. 2006 Khuu PT, Duncan KO, Kwan A, Hoyme HE and Bruckner AL: Unilateral aquagenic wrinkling

of the palms associated with aspirin intake. Arch Dermatol 142:1661-62, 2006.

98. 2007 Manning MA and Hoyme HE: Fetal alcohol spectrum disorders: A practical clinical approach to

diagnosis. Neurosci Biobehav Rev 31(2):230-8, 2007.

99. 2007 Ceccanti M, Alessandra Spagnolo P, Tarani L, Attilia ML, Chessa L, Mancinelli R, Stegagno M,

Sasso GF, Romeo M, Jones KL, Robinson LK, Del Campo M, Gossage JP, May PA and Hoyme

HE: Clinical delineation of fetal alcohol spectrum disorders (FASD) in Italian children:

Comparison and contrast with other racial/ethnic groups and implications for diagnosis and

prevention. Neurosci Biobehav Rev 31(2):270-7, 2007.

100. 2007 May PA, Gossage JP, Marais AS, Adnams CM, Hoyme HE, Jones KL, Robinson LK, Khaole NC,

Snell C, Kalberg WO, Hendricks L, Brooke L, Stellavato C and Viljoen DL: The epidemiology of

fetal alcohol syndrome and partial FAS in a South African community. Drug Alcohol Depend

88(2-3):259-71, 2007.

101. 2007 Ervalahti N, Korkman M, Fagerlund Å, Autti-Rämö I, Loimu L and Hoyme HE: Relationship

between dysmorphic features and general cognitive function in children with fetal alcohol

spectrum disorders. Am J Med Genet 143(24):2916-23, 2007.

102. 2007 Conway RL, Pressman BD, Dobyns WB, Danielpour M, Lee J, Sanchez-Lara PA, Butler MG,

Zackai E, Campbell L, Saitta SC, Clericuzio CL, Milunsky JM, Hoyme HE, Shieh J, Moeschler

JB, Crandall B, Lauzon JL, Viskochil DH, Harding B and Graham JM Jr.: Neuroimaging

findings in macrocephaly-capillary malformation: A longitudinal study of 17 patients. Am J

Med Genet 143(24):2981-3008, 2007.

103. 2007 Cusmano-Ozog K, Manning MA and Hoyme HE: 22q13.3 deletion syndrome: A recognizable

malformation syndrome associated with marked speech and language delay. Am J Med

Genet C Semin Med Genet 145(4):393-8, 2007.

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104. 2007 Moore E, Ward R, Flury Wetherill L, Rogers JL, Autti-Rämö I, Jacobson S, Mattson S, Jones

KL, Robinson LK, Hoyme HE and Foroud T: Unique facial features distinguish fetal alcohol

syndrome patients and controls in diverse ethnic populations. Alcohol Clin Exp Res

31(10):1707-13, 2007.

105. 2008 Jacobson SW, Stanton ME, Molteno CD, Burden MJ, Fuller DS, Hoyme HE, Robinson LK,

Khaole N and Jacobson JL: Impaired eyeblink conditioning in children with fetal alcohol

syndrome. Alcohol Clin Exp Res 32(2):365-72, 2008.

106. 2008 Battaglia A, Hoyme HE, Dallapiccola B, Novelli A, Hudgins L, McDonald-McGinn D, Bahi-

Buisson N, Romano C, Williams CA, Braley LL, Zuberi SM and Carey JC: Further delineation

of deletion 1p36 syndrome in 60 patients: A recognizable phenotype and common cause of

developmental delay and mental retardation. Pediatrics 121(2):404-10, 2008.

107. 2008 Adam MP, Kobori JA, Cusmano-Ozog K, Chen KM and Hoyme HE: Progressive and

symmetric supraorbital hyperostosis with bony and soft tissue overgrowth in an Ethiopian

female: A new overgrowth syndrome? Am J Med Genet 146A(5):543-547, 2008.

108. 2008 Fang S, McLaughlin J, Fang J, Huang J, Autti-Rämö I, Fagerlund A, Jacobson SW, Robinson

LK, Hoyme HE, Mattson SN, Riley E, Zhou F, Ward R, Moore ES, Foroud T; Collaborative

Initiative on Fetal Alcohol Spectrum Disorders. Automated diagnosis of fetal alcohol

syndrome using 3D facial image analysis. Orthod Craniofac Res 11(3):162-71, 2008.

109. 2008 Wallis D, Lacbawan F, Jain M, Der Kaloustian VM, Steiner CE, Moeschler JB, Losken HW,

Kaitila II, Cantrell S, Proud VK, Carey JC, Day DW, Lev D, Teebi AS, Robinson LK, Hoyme

HE, Al-Torki N, Siegel-Bartelt J, Mulliken JB, Robin NH, Saavedra D, Zackai EH and Muenke

M. Additional EFNB1 mutations in craniofrontonasal syndrome. Am J Med Genet A

146A(15):2008-12, 2008.

110. 2009 Jones KL, Hoyme HE, Robinson LK, Del Campo M, Manning MA, Bakhireva LN, Prewitt LM

and Chambers CD. Developmental pathogenesis of short palpebral fissure length in children

with fetal alcohol syndrome. Birth Defects Res A Clin Mol Teratol 85(8):695-9, 2009

111. 2009 Mutsvangwa T, Smit J, Hoyme HE, Kalberg W, Viljoen D, Meintjes E and Douglas T. Design,

construction and testing of a stereo-photogrammetric tool for the diagnosis of fetal alcohol

syndrome in infants. IEEE Trans Med Imaging 28(9):1448-58, 2009.

112. 2009 Allanson JE, Cunniff C, Hoyme HE, McGaughran J, Muenke M and Neri G. Elements of

morphology: standard terminology for the head and face. Am J Med Genet A 149A(1):6-28,

2009.

113. 2009 Dodge NC, Jacobson SW, Molteno CD, Meintjes EM, Bangalore S, Diwadkar V, Hoyme HE,

Robinson LK, Khaole N, Avison MJ and Jacobson JL: Prenatal alcohol exposure and

efficiency of interhemispheric transfer of tactile information: Detroit and Cape Town

findings. Alcohol Clin Exp Res 33(9):1628-37, 2009.

114. 2009 Burden MJ, Andrew C, Saint-Amour D, Meintjes EM, Molteno CD, Hoyme HE, Robinson, LK,

Khalole N, Nelson CA Jacobson JL and Jacobson SW: The effects of fetal alcohol syndrome

on response execution and inhibition: An event-related potential study. Alcohol Clin Exp Res

33(11):1994-2004, 2009.

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115. 2009 May PA, Gossage JP, Kalberg WO, Robinson LK, Buckley D, Manning M and Hoyme HE:

Prevalence and epidemiologic characteristics of FASD from various research methods with

an emphasis on in-school studies. Developmental Disabilities Res Rev 15(3):176-92, 2009.

116. 2010 Klingenberg CP, Wetherill L, Rogers J, Moore E, Ward R, Autti-Rämö I, Fagerlund A,

Jacobson SW, Robinson LK, Hoyme HE, Mattson SN, Li TK, Riley EP, Foroud T; the CIFASD

Consortium. Prenatal alcohol exposure alters the patterns of facial asymmetry. Alcohol

44(7-8):649-57, 2010.

117. 2010 Meintjes EM, Jacobson JL, Molteno CD, Gatenby JC, Warton C, Cannistraci CJ, Hoyme HE,

Robinson LK, Khaole N, Gore JC and Jacobson SW. An FMRI study of number processing in children with fetal alcohol syndrome. Alcohol Clin Exp Res 34(8):1450-64, 2010.

118. 2010 May PA, Gossage JP, Smith M, Tabachnick BG, Robinson LK, Manning M, Cecanti M, Jones

KL, Khaole N, Buckley D, Kalberg WO, Trujillo PM and Hoyme HE. Population differences in

dysmorphic features among children with fetal alcohol spectrum disorders. J Dev Behav Pediatr 31(4):304-16, 2010.

119. 2010 Jones KL, Hoyme HE, Robinson LK, Del Campo M, Manning MA, Prewitt LM and Chambers

CD. Fetal alcohol spectrum disorders: Extending the range of structural defects. Am J Med

Genet A 152A(11):2731-5, 2010.

120. 2010 Wan J, Shen L, Fang S, McLaughlin J, Autti-Rämö I, Fagerlund A, Riley E, Hoyme HE,

Moore ES, Foroud T; Collaborative Initiative on Fetal Alcohol Spectrum Disorders (CIFASD).

A framework for 3D analysis of facial morphology in fetal alcohol syndrome. Lect Notes

Comput Sci 6326:118-127, 2010.

121. 2011 Jacobson SW, Stanton ME, Dodge NC, Pienaar M, Fuller DS, Molteno CD, Meintjes EM,

Hoyme HE, Robinson LK, Khaole N and Jacobson JL. Impaired delay and trace eyeblink

conditioning in school-age children with fetal alcohol syndrome. Alcohol Clin Exp Res

35(2):250-64, 2011.

122. 2011 Fagerlund Å, Autti-Rämö I, Hoyme HE, Mattson SN and Korkman M: Risk factors for

behavioural problems in children with foetal alcohol spectrum disorders. Acta Paediatr

100(11):1481-8, 2011.

123. 2011 May PA, Tabachnick BG, Gossage JP, Kalberg WO, Marais AS, Robinson LK, Manning M,

Buckley D and Hoyme HE. Maternal risk factors predicting child physical characteristics

and dysmorphology in fetal alcohol syndrome and partial fetal alcohol syndrome. Drug

Alcohol Depend 119(1-2):18-27, 2011.

124. 2011 May PA, Fiorentino D, Coriale G, Kalberg WO, Hoyme HE, Aragón AS, Buckley D, Stellavato

C, Gossage JP, Robinson LK, Jones KL, Manning M and Ceccanti M. Prevalence of children

with severe fetal alcohol spectrum disorders in communities near Rome, Italy: New

estimated rates are higher than previous estimates. Int J Environ Res Public Health

8(6):2331-51, 2011.

125. 2011 Zadeh N, Bernstein JA, Niemi AK, Dugan S, Kwan A, Liang D, Hyland JC, Hoyme HE,

Hudgins L and Manning MA. Ectopia lentis as the presenting and primary feature in Marfan

syndrome. Am J Med Genet A 155A(11):2661-8, 2011.

http://www.ncbi.nlm.nih.gov/pubmed?term=%22Klingenberg%20CP%22%5BAuthor%5D&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVAbstract

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http://www.ncbi.nlm.nih.gov/pubmed?term=%22Jones%20KL%22%5BAuthor%5D

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http://www.ncbi.nlm.nih.gov/pubmed?term=%22Manning%20MA%22%5BAuthor%5D

http://www.ncbi.nlm.nih.gov/pubmed?term=%22Prewitt%20LM%22%5BAuthor%5D

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35

126. 2012 Crotwell PL and Hoyme HE. Advances in whole-genome genetic testing: From

chromosomes to microarrays. Curr Probl Pediatr Adolesc Health Care 42(3):47-73, 2012.

127. 2012 Foroud T, Wetherill L, Vinci-Booher S, Moore ES, Ward RE, Hoyme HE, Robinson LK, Rogers

J, Meintjes EM, Molteno CD, Jacobson JL and Jacobson SW. Relation over time between

facial measurements and cognitive outcomes in fetal alcohol-exposed children. Alcohol Clin Exp Res 36(9):1634-46, 2012.

128. 2012 Fagerlund Å, Autti-Rämö I, Kalland M, Pekka S, Hoyme HE, Mattson SN and Korkman M.

Adaptive behaviour in children and adolescents with foetal alcohol spectrum disorders: A

comparison with specific learning disability and typical development. European Child &

Adolescent Psychiatry 21:221-231, 2012.

129. 2012 Kwan A, Manning MA, Zollars LK and Hoyme HE. Marked variability in the radiographic

features of cartilage-hair hypoplasia: Case report and review of the literature. Am J Med Genet A 158A(11):2911-6, 2012.

130. 2012 May PA, Blankenship J, Marais AS, Gossage J, Kalberg W, Barnard R, De Vries M, Robinson

LK, Adnams C, Buckley D, Manning MA, Jones KL, Parry C, Hoyme HE and Seedat S:

Approaching the prevalence of the full spectrum of fetal alcohol spectrum disorders in a South African population-based study. Alcohol Clin Exp Res 37(5):818-30, 2013.

131. 2013 Blake J, Hoyme HE and Crotwell PL: A brief history of autism, the autism/vaccine

hypothesis and a review of the genetic basis of autism spectrum disorders. South Dakota

Medicine Spec no:58-65, 2013

132. 2013 Suttie M, Foroud T, Wetherill L, Jacobson JL, Molteno CD, Meintjes EM, Hoyme HE, Khaole

N, Robinson LK, Riley EP, Jacobson SW and Hammond P. Facial dysmorphism across the

fetal alcohol spectrum. Pediatrics 131(3):e779-88, 2013.

133. 2013 May PA, Tabachnick BG, Gossage JP, Kalberg WO, Marais AS, Robinson LK, Manning MA,

Blankenship J, Buckley D, Hoyme HE and Adnams CM. Maternal factors predicting cognitive

and behavioral characteristics of children with fetal alcohol spectrum disorders. J Dev Behav Pediatr 34(5):314-325, 2013.

134. 2013 May PA, Blankenship J, Marais AS, Gossage JP, Kalberg WO, Joubert B, Cloete M, Barnard R,

De Vries M, Hasken J, Robinson LK, Adnams CM, Buckley D, Manning M, Parry CD, Hoyme

HE, Tabachnick B, Seedat S. Maternal alcohol consumption producing fetal alcohol spectrum

disorders (FASD): Quantity, frequency, and timing of drinking. Drug Alcohol Depend 133

(2):502-512, 2013.

135. 2014 May PA, Hamrick KJ, Corbin KD, Hasken J, Marais AS, Brooke LE, Blankenship J, Hoyme

HE, Gossage JP. Dietary intake, nutrition and fetal alcohol spectrum disorders in the

Western Cape Province of South Africa. Reprod Toxicol 46:31-9, 2014.

136. 2014 May PA, Baete A, Russo J, Elliott AJ, Blankenship J, Kalberg WO, Buckley D, Brooks M,

Hasken J, Abdul-Rahman O, Adam M, Robinson LK, Manning M, Hoyme HE. Prevalence

and characteristics of fetal alcohol spectrum disorders. Pediatrics 134(5):855-66, 2014.

137. 2014 Ceccanti M, Fiorentino D, Coriale G, Kalberg WO, Buckley D, Hoyme HE, Gossage P,

Robinson LK, Manning MA, Romeo M, Hasken J, Tabachnick B, Blankenship J, May PA.










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Maternal risk factors for fetal alcohol spectrum disorders in a province in Italy. Drug Alcohol

Depend 145:201-8, 2014.

138. 2014 Dukes KA, Burd L, Elliott AJ, Fifer WP, Folkerth RD, Hankins GD, Hereld D, Hoffman HJ,

Myers MM, Odendaal HJ, Signore C, Sullivan LM, Willinger M, Wright C, Kinney HC; PASS

Research Network (Tripp T, Robinson F, Petersen JM, Young RA, Baker T, Petersen D,

Toland G, Haynes RL, Paterson DS, Broadbelt KG, Markianos K, Holm IA, Boyd T, Roberts D,

Goldstein RG, Stein H, Maggiotto C, Hassett C, Angal J, Habbe D, Hoyme H, Massello W

3rd, Randall B, Sens MA, Stoos C, Van Eerden P, Adler W, Berg E, Gromer J, Norton B,

Swenson L, Tobacco D, Groenewald C, Carstens E, Coldray J, Potter M, Brink L, Meyer R,

Geldenhuys E, Dipl N, Nugent J, Condon C, C M, Thai T, Li CM, Dunty B, Raju T, Hughes GB,

Ramirez I, Collins J, Spurchise L, Belliveau RA, McMillan K, Minter M, Grier JT, Vignola EF,

Violaris JJ). The safe passage study: design, methods, recruitment, and follow-up approach.

Paediatr Perinat Epidemiol 28(5):455-65, 2014.

139. 2015 Puumala SE, Hoyme HE. Epigenetics in Pediatrics. Pediatr Rev 36(1):14-21, 2015.

140. 2015 Hoyme HE, Hoyme DB, Elliott AJ, Blankenship J, Kalberg WO, Buckley D, Abdul-Rahman O,

Adam MP, Robinson LK, Manning M, Bezuidenhout H, Jones KL, May PA. A South African

specific mixed race lip/philtrum guide for diagnosis of fetal alcohol spectrum disorders. Am J

Med Genet A 167(4): 752-755, 2015.

141. 2015 May PA, Keaster C, Bozeman R, Goodover J, Blankenship J, Kalberg WO, Buckley D, Brooks

M, Hasken J, Gossage JP, Robinson LK, Manning MA, Hoyme HE. Prevalence and

characteristics of fetal alcohol syndrome and partial fetal alcohol syndrome in a Rocky

Mountain Region City. Drug and Alcohol Dependence 155:118-27, 2015.

142. 2105 May PA, Hamrick KJ, Corbin KD, Hasken JM, Marais AS, Blankenship J, Hoyme HE, Gossage

JP. Maternal nutritional status as a contributing factor for the risk of fetal alcohol spectrum

disorders. Reprod Toxicol 59:101-108, 2015.

142. 2015 Shah P, Milgrom T, Munzer T, Hoyme HE. Identifying risk and promoting resilience in

infants and toddlers with fetal alcohol spectrum disorders. J Zero to Three 36(2):37-44,

2015.

143. 2015 May PA, de Vries MM, Marais, AS, Kalberg WO, Adnams CM, Hasken JM, Robinson LK,

Manning M, Jones KL, Hoyme D, Seedat S, Parry CD, Hoyme HE. The continuum of fetal

alcohol spectrum disorders in four rural communities in South Africa: Prevalence and

characteristics. Drug and Alcohol Dependence 159:207-18, 2016.

144. 2016 May PA, Blankenship J, Marais AS, Joubert B, Colete M, de Vries M, Botha I, Hasken J,

Gossage JP, Kalberg WO, Buckley D, Robinson LK, Adnams CM, Manning MA, Parry CDH,

Hoyme HE, Tabachnick B, Seedat S. Breastfeeding and alcohol: Prevalence and effects on

child outcomes and fetal alcohol spectrum disorders. [Submitted for publication].

145. 2016 Hoyme HE, Kalberg WO, Elliott AJ, Blankenship J, Buckley D, Marais AS, Manning MA,

Robinson LK, Adam MP, Abdul-Rahman O, Jewett T, Coles CD, Chambers C, Jones KL,

Adnams CM, Shah PE, Riley EP, Charness ME, Warren KR, May PA. Updated clinical

guidelines for diagnosing fetal alcohol spectrum disorders. [Pediatrics (in print)].

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http://www.ncbi.nlm.nih.gov/pubmed/?term=Violaris%20JJ



37

Books (1)

1. Hudgins L, Toriello H, Enns GM and Hoyme HE: Signs and Symptoms of Genetic

Conditions: A Handbook. London, Oxford University Press, 2014.

Chapters and Monographs (19)

1. 1983 Hoyme HE and Jones KL: The embryology of birth defects: Malformations vs.

deformations vs. disruptions, in Milunsky A, Friedman EA, and Gluck L (eds): Advances in

Perinatal Medicine, vol. III. New York, Plenum Medical Book Co., 1983. pp. 33-64.

2. 1989 Hoyme HE: The Levy-Hollister Syndrome, in Buyse ML (ed): Birth Defects Encyclopedia.

New York, Alan R. Liss, Inc., pp 1024.

3. 1989 Hoyme HE: Foreword, in Kelley-Buchanan CD: Peace of Mind During Pregnancy. New

York, Facts on File Publications, 1988; Dell Publishing, 1989.

4. 1990 Hoyme HE: Teratogenic causes of developmental disability, in Pueschel SM and Mulick JA

(eds): The Prevention of Developmental Disabilities. Baltimore, Paul H. Brookes Publishing

Co., 1990, pp 105-121.

5. 1993 Hoyme HE: Malformations of the upper gastrointestinal system, in Stevenson RE, Hall JG,

Goodman RM (eds): Human Malformations and Related Anomalies. New York, Oxford

University Press, 1993, pp. 415-442.

6. 1993 Hoyme HE: Asymmetry and hypertrophy, in Stevenson RE, Hall JG, Goodman RM (eds):

Human Malformations and Related Anomalies. New York, Oxford University Press, 1993, pp.

1031-1042.

7. 1994 Hoyme HE: Minor anomalies: Diagnostic clues to aberrant human morphogenesis, in

Markow AT (ed): Developmental instability, its origins and evolutionary implications.

Boston, Kluwer Academic, 1994.

8. 2001 Hoyme HE, Curry CJR, and Levy HL: Genetics for the practicing pediatrician, in AAP

Pediatric Update. Port Washington, NY, Medical Information Systems, Inc., 2001, volume

21, #10, pp. 1-9. (Monograph and Educational Tape).

9. 2003 Hoyme HE: The molecular basis of genetic disorders, in Behrman RE, Kliegman RM and

Jenson HB: Nelson Textbook of Pediatrics, 17th ed. Philadelphia, WB Saunders, Co., 2003,

pp. 367-371.

10. 2003 Hoyme HE: Molecular diagnosis of genetic diseases, in Behrman RE, Kliegman RM and

Jenson HB: Nelson Textbook of Pediatrics, 17th ed. Philadelphia, WB Saunders, Co., 2003,

pp. 371-376.

11. 2003 Hoyme HE: Patterns of inheritance, in Behrman RE, Kliegman RM and Jenson HB: Nelson

Textbook of Pediatrics, 17th ed. Philadelphia, WB Saunders, Co., 2003, pp. 376-382.

12. 2005 Gallagher R, Kingham K and Hoyme HE: Fetal anticonvulsant syndrome, in Cassidy SB and

Allanson JE (eds): Management of Genetic Syndromes, 2nd ed. New York, Wiley-Liss, Inc.,

2005.


38

13. 2005 Adam M and Hoyme HE: Fetal alcohol syndrome, in Butler MG and Meaney FJ (eds):

Genetics of Developmental Disabilities. New York, Marcel Dekker, 2005.

14. 2005 Hoyme HE: Malformations of the upper gastrointestinal system, in Stevenson RE and Hall

JG (eds): Human Malformations and Related Anomalies, 2nd ed. New York, Oxford

University Press, 2005.

15. 2005 Abdul-Rahman O and Hoyme HE: Asymmetry and hypertrophy, in Stevenson RE and Hall

JG (eds): Human Malformations and Related Anomalies, 2nd ed. New York, Oxford


16. 2009 Hoyme HE, Manning MA, Halamek L: Fetal and neonatal injury as a consequence of

maternal substance abuse. Fetal and Neonatal Brain Injury, 4th ed. New York, Cambridge


17. 2009 Hoyme HE, Gallagher R, and Kingham K: Fetal anticonvulsant syndrome, in Cassidy SB

and Allanson JE (eds): Management of Genetic Syndromes, 3rd ed. New York, Wiley-Liss,

Inc., 2010.

18. 2013 Hoyme HE: Assessing Dysmorphology in Primary Care, in Saul R (ed): Medical Genetics in

Pediatric Practice. Elk Grove Village, IL, American Academy of Pediatrics, 2013.

19. 2015 DeMarco RT and Hoyme HE: Disorders of Sexual Differentiation, in: Neonatalogy: Clinical

Practice and Procedures. Stevenson DK, Cohen RS, Sunshine P, eds. McGraw Hill, New York,

NY, 2015.

Electronic Publications (2)

1. 2007 Hoyme HE and May PA:. Response to Criticisms Raised by Astley to Clarifications of the

IOM Diagnostic Criteria for FASD. Pediatrics (Post-publication peer review -psr) February 26,

2007. Available at:

http://pediatrics.aappublications.org/cgi/eletters/118/4/1532

2. 2013 Shieh JTC, Hoyme HE, Arbour LT (Feb 2008; April, 2013) Inherited Systemic Hyalinosis, in:

GeneReviews at GeneTests: Medical Genetics Information Resource [database online].

Copyright, University of Washington, Seattle, 1997-2008. Available at

http://www.genetests.org.

Research Abstracts (222)

Available on request.

Invited Presentations (Selected 12 presentations of 563)

1. Hoyme HE: “Next Generation Sequencing in the Clinic: An Overview of New Genetic Testing

Technology; Spots and Bumps: Recognizing and Managing Neurocutaneous Disorders; Minor

Anomalies: Small Clues to Big Problems; You Be The Geneticist: Diagnosing Common Genetic

Disorders in Your Practice.” American Academy of Pediatrics Practical Pediatrics CME Course, San

Francisco, CA, May, 2015.

http://pediatrics.aappublications.org/cgi/eletters/118/4/1532

http://www.genetests.org/


39

2. Hoyme HE: “Clinical Diagnosis of Fetal Alcohol Spectrum Disorders: A Practical Approach.”

Pediatric Grand Rounds, Department of Pediatrics, The University of Michigan and C.S. Mott

Children’s Hospital, Ann Arbor, MI, February, 2015.

3. Hoyme HE: “Fetal Alcohol Spectrum Disorders: Advances and Controversies.” Pediatric Grand

Rounds, Department of Pediatrics, The University of Utah and Primary Children’s Hospital, Salt

Lake City, UT, September 2011.

4. Hoyme HE: “The Role of Genetic and Malformation Syndromes in Autism Spectrum Disorders.”

Pediatric Grand Rounds, Department of Pediatrics, The University of Iowa, Iowa City, IA,

September 2009.

5. Hoyme, HE: “The Role of Genetic and Malformation Syndromes in Autism Spectrum Disorders.”

The University of California, San Diego, and Rady Children’s Hospital, San Diego, CA. February,

2009.

6. Hoyme HE: “The Role of Genetic and Malformation Syndromes in Autism Spectrum Disorders.”

Anthony B. DeFeo Lectureship in Speech-Language Pathology, Department of Speech, Language,

and Hearing Sciences, The University of Arizona, Tucson, September 2008.

7. Hoyme HE: “Current Concepts in Clinical Diagnosis of Fetal Alcohol Spectrum Disorders.” The

University of Uppsala, Sweden, September, 2008.

8. Hoyme HE: “Current Clinical Challenges and Controversies in the Tuberous Sclersosis Complex ,

University of Cape Town, The Pediatric Neurology and Developmental Association of South Africa,

Cape Town, South Africa, May, 2007.

9. Hoyme HE: “Fetal Alcohol Spectrum Disorders: An International Perspective.” 16 Corso di

Genetica Medica (16th Course of Medical Genetics). Istituto di Ricovero e Cura a Carattere

Scientifico, Ospedale “Casa Sollievo della Sofferenza.” San Giovanni Rotondo, Puglia, Italy, June,

2006.

10. Hoyme HE: “A Practical Clinical Approach to Diagnosis of Fetal Alcohol Spectrum Disorders; The

ABC’s of DNA: The New Molecular Cytogenetics in Clinical Practice; Common Malformation

Syndromes: Diagnosis and Management.” Chapter 1, American Academy of Pediatrics Meeting,

Monterey, CA, May, 2006.

11. Hoyme HE: “From Bench to Bedside: Why Alcohol and Embryos Don’t Mix; Overgrowth in

Childhood: A Diagnostic Approach.” Folkhälsan Research Center, Biomedicum Helsinki, University

of Helsinki, Finland. May, 2004.

12. Hoyme HE: “Overview of Fetal Alcohol Spectrum Disorders.” Convegno Internazionale

Sull’Alcolismo: La Sindrome Feto Alcolica Un Problema Internazionale Emergente. Universita di

Roma (La Sapienza) Azienda Policlinico Umberto. Centro Congressi Via dei Fentani 4, Rome, Italy.

April 23, 2004.

13. Hoyme HE: “Fetal Alcohol Syndrome Thirty Years Later: How Far Have We Come?” (La sindroma

feto alcolica trenta anni dopo: A che puto siamo?) Foundazione Stella Maris-Pisa. Instituto di

Ricovero e Cura Carattere Scientifico per la Neuropsychiatria dell’Infanzia e dell’Adolescenza.

Calambrone (Pisa), Italy. April 5, 2004.

BIOGRAPHICAL SKETCH Provide the following information for the Senior/key personnel and other significant contributors in the order listed on Form Page 2.

Follow this format for each person. DO NOT EXCEED FOUR PAGES.

NAME

Kenneth S. Ramos POSITION TITLE

Co-Investigator Professor of Medicine Associate VP, Precision Health Sciences

eRA COMMONS USER NAME (credential, e.g., agency login)

KENRAMOS

EDUCATION/TRAINING (Begin with baccalaureate or other initial professional education, such as nursing, include postdoctoral training and residency training if applicable.)

INSTITUTION AND LOCATION DEGREE

(if applicable) MM/YY FIELD OF STUDY

University of Puerto Rico, San Juan, PR Pharm.B. 1978 Pharmaceutical Science & Chemistry University of Texas, Austin, TX Ph.D. 1983 Biochemical Pharmacology University of Nevada, Reno, NV Postdoc. 1983 Physiology & Pharmacology Texas A&M University, College Station, TX Postdoc. 1992 Molecular Biology

University of Louisville, Louisville, KY University of Louisville, Louisville, KY

M.D.

2011 2014

Medicine Internal Medicine/ Pulmonology

A. Personal Statement My research program integrates diverse approaches ranging from molecular genetics to population-based studies in efforts to understand the genomic basis of human disease. In the past, I have worked on genetic and epigenetic influences on disease susceptibility, computational biology, molecular biology and toxicology of adhesion and oxidative stress, and molecular signaling. Ongoing translational research in my laboratory focuses on the study of repetitive genetic elements in the mammalian genome and their role in genome plasticity and toxicity, while clinical studies focus on the development and characterization of diagnostic and prognostic biomarkers of cancer to advance the goals of personalized genomic medicine. I have directed two NIH P30 Centers of Excellence working at the interface between genomic sciences and environmental medicine and have provided administrative and scientific leadership for two academic centers focusing on genetics and genomic medicine. Over the past 30 years I have enabled the career development of many scientists through my involvement in several NIH-funded training programs. For this project, I will work closely with Drs. Mahadevan and Garcia to provide scientific guidance for translational research efforts. I will also advise on issues related to coordination, recording and sharing of data. B. Positions and Honors Positions and Employment 1984-87 Assistant Professor, Department of Pharmacology and Toxicology, PCPS, Univ. Sciences

Philadelphia 1987-89 Assistant Professor, Department of Pharmacology, School of Medicine, Texas Tech University

Health Sciences Center 1989-95 Associate Professor, Department of Physiology and Pharmacology, College of Veterinary Medicine

and Department of Medical Physiology, College of Medicine, Texas A&M University 1995-03 Professor, Department of Physiology and Pharmacology, College of Veterinary Medicine and

Department of Medical Physiology, College of Medicine, Texas A&M University 1998-99 Interim Head, Department of Environmental and Occupational Health, School of Rural Public

Health, Texas A&M University HSC 1999-03 Director, Center for Environmental and Rural Health, Texas A&M University 2003-07 Professor and Chairman, Department of Biochemistry and Molecular Biology, Health Sciences

Center, University of Louisville 2003-14 Distinguished University Scholar, Department of Biochemistry and Molecular Biology, Health

Sciences Center, University of Louisville 2003-10 Director, Center for Genetics and Molecular Medicine, Health Sciences Center, University of

Louisville 2007-14 Director, Center for Environmental Genomics and Integrative Biology, University of Louisville

2014- Professor of Medicine, Department of Medicine, Division of Pulmonology, Allergy, Critical Care and Sleep, University of Arizona College of Medicine,

2014- Associate Vice President for Precision Health Sciences, University of Arizona Health Sciences Center

2015- Interim Dean, University of Arizona, College of Medicine, Phoenix Other Experience and Professional Memberships 1982- Member, SOT; SIVB; AHA; AAAS; ASPET; NABVO; ASBMB, ACP, AMA 1990-94 Member, Central Review Committee of the American Heart Association-Texas Affiliate 1993-98 Member, Environmental Health Sciences Study Section, NIEHS, Chairman (1996-98) 1995-99 Member, Research Allocations and Advisory Committee, American Heart Association; Texas

Affiliate 1995-97 Member, National Academy of Sciences Review Committee: Health Effects in Vietnam Veterans 1997-05 Member, Howard Hughes Pre-doctoral Fellowships in Biological Sciences Review Committee 1997-03 Deputy Director, NIEHS Training Program, Texas A&M University 1997-00 Presidential Chain, Molecular Biology Specialty Section, SOT, President (1999-2000) 1997-99 Member, FASEB Cardiovascular Biology Theme Program Committee 1998-00 Chairman, Molecular Signaling Review Committee, American Heart Assoc, Texas-Western Affiliate 1999-03 Board of Directors, American Heart Association, Texas Affiliate, President Elect (2001-2003) 2000-02 Member, Advisory Committee on Alternative Toxicology Methods, National Toxicology Program 2002-04 Chair, Gordon Research Conference on Mechanisms of Toxicity 2001-06 Member, Board of Scientific Counselors, National Institute of Environmental Health Sciences 2002-06 Editor, Environmental Health Perspectives: Toxicogenomics Section 2004-07 Chair, National Academy of Sciences Committee on Emerging Issues and Data on Environmental Contaminants 2006-11 Member, Kentucky Diabetes Research Board 2006-10 Presidential Chain, Society of Toxicology, Vice-President Elect (2006-2007) Vice-President (2007- 2008), President (2008-2009), Past President (2009-2010) 2007-11 Member, National Institute of Environmental Health Sciences Advisory Council 2012- Member, Board of Scientific Counselors, Centers for Disease Control 2011- Chair, Scientific Advisory Board, Kentucky Clinical Trials Laboratory, Louisville, KY 2011- Chief Scientific Advisor, Clinical Trials Laboratory, University of Clinical Trials 2012-14 Member, Research Committee, American Heart Association Great Rivers Affiliate 2013- Member, National Academy of Sciences Roundtable on Public Interfaces in the Life Sciences 2013- Member, Humans Studies Review Board, Environmental Protection Agency 2014- Chair, National Academy of Sciences Committee on Health Effects in Vietnam Veterans

Honors 1978 Magna Cum Laude, University of Puerto Rico 1978 Mortar and Pestle Award for Student Excellence, University of Puerto Rico 1982 Pre-doctoral Fellowship and Dissertation Award, The University of Texas 1983 Honorable Mention, Graduate Student Award for Meritorious Research, Society of Toxicology 1992-97 USPHS Research Career Development Award, NIEHS 1996 Achievement Award in Research, Society of Toxicology 2000 Astra Zeneca Ltd. European Traveling Lectureship Award 2001-03 Chester Reed Chair in Molecular Toxicology 2002 Distinguished Service Recognition, American Heart Association-Texas Affiliate 2003- Distinguished University Scholar, University of Louisville 2006 Fellow, Academy of Toxicological Sciences 2008 National Academy of Sciences Associate 2013 Leading Physician of the World, International Association of Internists 2015 Elected Member, National Academy of Medicine

C. Selected peer-reviewed publications (Selected from 250+ publications) Most relevant to the application 1. Falahatpisheh, M.H., Nanez, A. and Ramos, K.S. AHR regulates WT1 genetic programming during

murine nephrogenesis. Molecular Medicine 17, 1275-1284, 2011. PMID: 2186321 2. Montoya, D.E. and Ramos, K.S. HPV E7 viral oncoprotein disrupts transcriptional regulation of L1Md

retrotransposon. FEBS Letters 586, 102-106, 2012. PMID: 22172279 3. Bojang, P., Roberts, R., Anderton, M and Ramos, K.S. Reprogramming of gene expression in HepG2

cells by Long Interspersed Nuclear Element-1. Molecular Oncology 7(4):812-825, 2013. PMID: 23648019 4. Gordon MW, Yan F, Zhong X, Mazumder PB, Xu-Monette ZY, Zou D, Young KH, Ramos KS, Li Y.

Regulation of p53-targeting microRNAs by polycyclic aromatic hydrocarbons: Implications in the etiology of multiple myeloma. Mol Carcinog. 2014 May 6. doi: 10.1002/mc.22175. [Epub ahead of print] PMCID: PMC4223015

5. Bojang P Jr, Anderton MJ, Roberts RA, Ramos KS. De novo LINE-1 retrotransposition in HepG2 cells preferentially targets gene poor regions of chromosome 13. Genomics. 2014 Aug;104(2):96-104. PMCID: PMC4157570

Additional relevant publications 1. Kondraganti SR, Fernandez-Salguer P, Gonzalez FJ, and Ramos KS, Jiang W and Moorthy B. Polycyclic

aromatic hydrocarbon-inducible DNA adducts: Evidence by 32Ppostlabeling and use of knockout mice for Ah receptor-independent mechanisms of metabolic activation in vivo. International Journal of Cancer 103(1), 5-11, 2003. PMID: 12455047

2. Ramos KS, He J, Kalbfleisch T, Stribinskis V, and Brun M. Computational Inference of LINE-1 Regulatory Networks. Genomics. 90, 176-185, 2007. PMID: 17521869

3. Montoya-Durango DE, Liu Y, Teneng I, Kalbfleisch T, Lacy ME, Steffen MC, Ramos KS. Epigenetic control of mammalian LINE-1 retrotransposon by retinoblastoma proteins. Mutat Res. 2009 Jun 1;665(1-2):20-8. PMCID: PMC3418809

4. Rouchka, E, Montoya D, Stribinskis V, Ramos KS and Kalbfleisch T. Assessment of genetic variation for the LINE1 retrotransposon from next generation sequence data. BMC:Bioinformatics, 11:9-12, 2010.

5. Teneng I, Montoya-Durango DE, Quertermous JL, Lacy ME, and Ramos KS. Reactivation of L1 retrotransposon by benzo(a)pyrene involves complex genetic and epigenetic regulation. Epigenetics. 2011 Mar;6(3):355-67. PMCID: PMC3092684

6. Ramos KS, Teneng I, Montoya-Durango DE, Bojang P, Haeberle MT, Ramos IN, Stribinskis V and Kalbfleisch T. The Intersection of Genetics and Epigenetics: Reactivation of Mammalian LINE-1 Retrotransposons by Environmental Injury. In Environmental Epigenomics in Health and Disease: Epigenetics and Disease Origins. Vol. 1, Heidelberg: Springer, 2013.

7. Ramos IN, Appana SN, Brock G, Kalbfleisch T, He Q, and Ramos KS. Health Status, Perceptions and Needs of Hispanics in Rural Shelbyville, Kentucky. J Immigr Minor Health. 2013 Sep 8. [Epub ahead of print] PMID: 24014190

8. Li Y, Gordon MW, Xu-Monette ZY, Visco C, Tzankov A, Zou D, Qiu L, Montes-Moreno S, Dybkaer K, Orazi A, Zu Y, Bhagat G, Richards KL, Hsi ED, Choi WW, van Krieken JH, Huang Q, Ai W, Ponzoni M, Ferreri AJ, Winter JN, Go RS, Piris MA, Møller MB, Wu L, Wang M, Ramos KS, Medeiros LJ, Young KH. Single nucleotide variation in the TP53 3' untranslated region in diffuse large B-cell lymphoma treated with rituximab-CHOP: a report from the International DLBCL Rituximab-CHOP Consortium Program. Blood. 2013 May 30;121(22):4529-40. PMCID: PMC3668486

9. Deng Q, Becker L, Ma X, Zhong X, Young K, Ramos KS, and Li, Y. The dichotomy of p53 regulation by noncoding RNAs. Journal of Molecular Biology, in press, 2014.

10. Montoya DE, Ramos KA, Bojang P, Ruiz L and Ramos, KS. LINE-1 silencing by retinoblastoma proteins is effected through the Nucleosomal and Remodeling Deacetylase multiprotein complex. Epigenetics, in revision, 2014.

D. Research Support Ongoing Research Support GIA Ramos (PI) 01/01/2014-05/31/2015 National Academy of Sciences Detection of ORF1p in Human Serum Specimens Role: PI R01 Li (PI) 12/01/2014-11/30/2019 NIH/NCI Convergence of MicroRNA and p53 Signaling in Multiple Myeloma: Environmental Connections The goal of this project is to investigate the biological and pathological functions of microRNAs that target the TP53 gene and the contribution of environmental hazards to multiple myeloma tumorigenesis. Role: Co-PI Completed Research Support P30 (Years 1-5) Ramos (PI) 04/01/2007-03/31/2012 National Institutes of Health “Center for Environmental Genomics and Integrative Biology” Infrastructure and research support for development of initiatives in the areas of environmental genomics and translational medicine. The program supports outstanding basic and applied scientific investigations in the emerging field of environmental systems biology aimed at reducing the negative impact of environmental hazards on human health. Role: PI RO1 Ramos (PI) 09/26/2009–06/30/2012 National Institute of Health/National Cancer Institute “Role of Retroelements in Environmental Atherogenesis” Study L1 regulation by aromatic hydrocarbons provides a unifying perspective for understanding molecular mechanisms of environmental atherogenesis. Role: PI PO1 (Years 1-5) Bolli (PI) 10/01/2004-11/30/2009 National Heart Lung and Blood Institute “Protection of Ischemic Myocardium” Study the role of antioxidative signaling in myocardial ischemia. Role: Co-I T32 (Years 1-5) Hein (PI) 04/01/2004-03/31/2014 National Institute of Environmental Health Sciences “UofL Environmental Health Sciences Training Program” Training grant in environmental health science Role: Co-I GIA Ramos (PI) 01/01/2010-06/30/2014 Astra Zeneca “Epigenetic regulation of the cellular response to oxidative and cellular stress. Role: PI

CURRICULUM VITAE

Dee Quinn, MS, CGC

Administrative experience

7 years as Executive Director of a national non-profit organization (OTIS)

10 years as Director of the University of Arizona Genetic Counseling Graduate Program

Supervisor of numerous RN’s CGC’s and other allied health professionals

American Board of Genetic Counselor program site visitor

25 years as Director of MotherToBaby AZ

Academic

Primary instructor for Genetic Counseling Graduate Program

20-30 annual lectures to medical students, residents, fellows, physicians, graduate and

undergraduate students and the public

Course director/instructor of GENE 585 (Introduction to Embryology, Teratology and

Clinical Genetics)

Research

20 years of experience participating in national teratology research outcome studies

Recently provided genetic counseling for whole exome sequencing research project;

member of Medical Review Board

CURRENT EMPLOYMENT:

University of Arizona

Center for Applied Genetic and Genomic Medicine (TCAG2M)

College of Medicine, Dept of OB/GYN and College of Pharmacy

1295 N. Martin, Room B308

Tucson, Az 85721-0202

Phone: (520) 626-3410 or 626-4382

Email: [email protected]

EDUCATION: 1971-1975 University of Bridgeport, Connecticut. Bachelor of Science in Nursing.

1979-1981 Sarah Lawrence College. Human Genetics Program - Master of Science

CERTIFICATION: 1984 to present American Board of Medical Genetics, Certification in Genetic Counseling.

PROFESSIONAL:

4/16-present Director, University of Arizona Genetic Counseling Services and Clinical Genetics

Educator

4/14-present Founding member, TCAG2M (The Center for Applied Genetic and Genomic

Medicine)

7/09-present Clinical Instructor in Pharmacy Practice & Science, College of Pharmacy, University

of Arizona

9/02-present Clinical Lecturer, Dept. of OB/GYN, Section of Maternal Fetal Medicine, University

of Arizona College of Medicine, Tucson, Arizona.

7/89-present Director, MotherToBaby Arizona - Departments of OB/GYN, Pediatrics and Arizona

Drug Information and Poison Control, Tucson, Arizona

Dorothy L. Quinn

Curriculum Vitae

Page 2

7/05- 6/12 Executive Director, Organization of Teratology Information Specialists (OTIS)

7/89- 9/14 Senior Genetic Counselor, Dept. of OB/GYN, Section of Maternal Fetal Medicine,

University of Arizona College of Medicine, Tucson, Arizona

7/99- 5/05 Director, Genetic Counseling Training Program, University of Arizona, Tucson,

Arizona.

.

7/95-7/99 Co-Director, Genetic Counseling Training Program, University of Arizona, College

of Medicine, Tucson, Arizona.

7/81-6/89 Genetic Counselor and Instructor in Pediatrics, Division of Human Genetics,

Department of Pediatrics, University of Connecticut Health Center, Farmington,

Connecticut.

7/85-6/89 Coordinator, Connecticut Pregnancy Exposure Information Service (CPEIS), Dept. of

Pediatrics, University of Connecticut Health Center, Farmington, CT

SOCIETIES/MEMBERSHIPS: 1995- Member, Teratology Society

1995- Member, National Society of Genetic Counselors

1995- Member, Arizona State Genetics Advisory Committee

1985- Member, Organization of Teratology Information Services (OTIS)

2011- Member, Tucson Postpartum Breastfeeding Coalition

2005-2011 Executive Director, OTIS

2002- 2004 Member, Public Affairs Committee, Teratology Society

7/99- 1/02 President, Organization Teratology Information Services (OTIS)

1995-2005, 2014- Member, Association of Genetic Counseling Program Directors

PUBLICATIONS:

Quinn D. Funding for teratology information services: up, down, and all around. Birth Defects

Res A Clin Mol Teratol. 2012 Aug;94(8):660-3. doi: 10.1002/bdra.23020. Epub 2012 Jun 8.

PubMed PMID: 22678653.

Quinn, D. How to talk to families about genetics and psychiatric illness. [Book review] J Genet

Counsel (2012) 21:355–356 doi: 10.1007/s10897-011-9463-9

Klieger-Grossmann, C, D. Chityat, S Lavigne, K Kao, F Garcia-Bournissen, D. Quinn, V. Luo,

M. Sermer, S Riordan, C Laskin, I Matok, R Gorodischer, C. Chambers, A Levi, G Koren.

(2010). Prenatal exposure to mycophenolate mofetil: An updated estimate. JOGC, 32(8): 794-

797.

Quinn, D. (2009). Teratology risk assessment and counseling. In G. G. Briggs and M. Nageotte

(Eds), Diseases, Complications and Drug Therapy in Obstetrics: A Guide for Clinicians (pp. 99-

119). Bethesda, MD: American Society of Health-System Pharmacists.

Quinn, D, Voyer Lavigne, S, Chambers, C, Wolfe, L, Chipman, H, Cragan, J, Rasmussen, S.

Addressing Concerns of Pregnant and Lactating Women After the 2005 Hurricanes. American

Journal of Maternal/Child Nursing, 33(4), July/August, 2008.

Quinn, D. Use of Psychoactive Medication During Pregnancy and Possible Effects on the Fetus

and Newborn. Pediatrics. (107) 6 June 2001, pp. 1498.

M.L. Cartter, M.D., D.L. Quinn, M.S., et. al.: Occupational Risk Factors for Infection with

Parvovirus B19 Among Pregnant Women, Journal of Infectious Diseases, 163:282-285, 1991.

Dorothy L. Quinn

Curriculum Vitae

Page 3

O'Brien J. Conover B. Frias J. Koren G. Quinn D. Robert E. Rosenwasser S. Formation of the

Organization of Teratology Information Services (OTIS). The OTIS Executive Committee.

Source. Reproductive Toxicology, 5(5):463, 1991.

J.F. Rodis, M.D., D.L. Quinn, M.S., William Garry, M.D., Larry J. Anderson, M.D., Sally

Rosengren, M.D., Matthew Cartter, M.D., Winston A.Campbell, M.D. and Anthony Vintzileos,

M.D.: Management and Outcomes of Pregnancies Complicated by Human B19 Parvovirus

Infection: A Prospective Study. American Journal of Obstetrics and Gynecology, 163(4) 1168-

1171, October 1990.

J.F. Rodis, T. Horvick, D.L. Quinn, A. M. Vintzileos, W.A. Campbell, S.S. Rosengren and P.

Tattersall: Human Parvovirus Infection Pregnancy. Obstetrics and Gynecology, 72(2) 733-738.

November, 1988.

Webinar:

10/14 Gaucher Disease in Pregnancy

4/15 Clinical Teratology for National Society of Genetic Counselors Board review course

NATIONAL ACTIVITIES:

2/15 Accreditation Council for Genetic Counseling accreditation site visitor at Virginia

Commonwealth University

2/14 webinar for NSGC board review course on Teratology

2/12 American Board of Genetic Counseling accreditation site visitor for accreditation at

University of California Irvine

2013-2015 Member, MotherToBaby Public Affairs Comittee

8/28/09 Presentation at National Society of Genetic Counselors – Teratology Primer

4/2-4/4/08 Participated in CDC workgroup on risk communication for “Pandemic Influenza:

8/26-8/28/08 Special Considerations for Pregnant Women”

3/2-3/4/08 American Board of Genetic Counselor accreditation site visitor at the University of Utah

Graduate Program in Genetic Counseling

6/6/07-6/10/07 European Network of Teratology Information Services annual meeting in Helsinki,

Finland – presented “OTIS Collaborative Studies: Methodology and Current Studies”

and poster on current OTIS studies

10/01 Presented “Teratology Primer for Poison Control Centers” at North American Congress

of Clinical Toxicology annual meeting, Montreal.

1/00 Represented OTIS at several FDA hearings concerning the use of Accutane in women of

reproductive age and the restructuring of FDA pregnancy labeling

GRANTS/FUNDING:

HRSA (1UG4MC27861-01-00). OTIS/MotherToBaby Reproductive and Environmental

Health Network – received $80,000 for each of 2 years to provide teratology counseling

Grant from Genzyme Corp entitled, Novel Educational Campaign for Gaucher Disease in

Pregnancy

Successfully lobbied Arizona legislature to financially support the Arizona Teratology

Information Program (ATIP) – $120,000 funding began in July of 1999. After losing funding in

2003, again lobbied Arizona legislature to financially support the Arizona Teratology

Information Program (ATIP) – 2004 – present – funding decreased from $120,000 to $60,000

and ended July 2009.

http://ovidsp.tx.ovid.com/spb/ovidweb.cgi?&S=CLGDFPGJAHDDNBLCNCHLPGMLOBIDAA00&Search+Link=%22O%27Brien+J%22.au.

http://ovidsp.tx.ovid.com/spb/ovidweb.cgi?&S=CLGDFPGJAHDDNBLCNCHLPGMLOBIDAA00&Search+Link=%22Conover+B%22.au.

http://ovidsp.tx.ovid.com/spb/ovidweb.cgi?&S=CLGDFPGJAHDDNBLCNCHLPGMLOBIDAA00&Search+Link=%22Frias+J%22.au.

http://ovidsp.tx.ovid.com/spb/ovidweb.cgi?&S=CLGDFPGJAHDDNBLCNCHLPGMLOBIDAA00&Search+Link=%22Koren+G%22.au.

http://ovidsp.tx.ovid.com/spb/ovidweb.cgi?&S=CLGDFPGJAHDDNBLCNCHLPGMLOBIDAA00&Search+Link=%22Quinn+D%22.au.

http://ovidsp.tx.ovid.com/spb/ovidweb.cgi?&S=CLGDFPGJAHDDNBLCNCHLPGMLOBIDAA00&Search+Link=%22Robert+E%22.au.

http://ovidsp.tx.ovid.com/spb/ovidweb.cgi?&S=CLGDFPGJAHDDNBLCNCHLPGMLOBIDAA00&Search+Link=%22Rosenwasser+S%22.au.

Dorothy L. Quinn

Curriculum Vitae

Page 4

Grant Award for Public Health Conference Support Grant Program, from the Centers for Disease

Control and Prevention for 2002, 2003, 2004, 2005, 2006, 2007, 2008, 2009, 2010, 2011 OTIS

meetings.

Received amended award from CDC: Population- based Birth Defects Surveillance Programs

and the Utilization of Surveillance Data - PA 03019, Award No. U50/CCU923306-01 to

provide teratology information requested from the CDC, $40,000 annually from Nov 2003-Jan

2007.

CDC grant to OTIS to provide information to pregnant and nursing women and their health care

providers concerning exposures related to Hurricane Katrina – awarded $25,000 ; Contract No.

200-2005-M-14845 with Modification No. 00001, Sept 2005-April 2006

OTIS-MOD iPledge Isotretinoin Pregnancy Prevention Survey, 9/06-12/31/07 – Co-PI – awarded

$9,000 - Participated in collecting data on the effectiveness of the pregnancy prevention program

in reducing numbers of pregnant women exposed to isotretinoin

Participation in OTIS studies on atuoimmune diseases in pregnancy, West Nile Virus,

isotretinoin, vaccines and antidepressants, $5,000 annually

CURRENT TEACHING

Annual lectures

OB/GYN core lecture – “Common Genetic Disorders”; “Patterns of Inheritance”; “Principles of

Teratology” – each lecture given every 2 years

OB/GYN clerkship – “Teratology Primer”– every 6 weeks

Toxicology/Poison Control clerkship – “Teratology Primer” – every 6 weeks

University of Arizona School of Medicine – Life cycles block; lectures on genetic counseling

and on teratology

Catholic Social Services and Christian Family Care adoption class- “Exposures During

Pregnancy” 4 times annually to each group

Teratology Primer - University of Arizona Family Practice residents - annually

Teratology Primer - University of Arizona Psychiatry residents – annually

Genetic Counseling – Model for Communicating Risks About Complex Issues” – University of

Arizona Psychiatry residents – annually

Genetic Testing for Cystic Fibrosis – to Pediatric Pulmonary students annually

Arizona Teratology Information Program - College of Pharmacy Women’s Health Expo

Arizona Teratology Information Program – UMC Baby Fair at TCC

Community Interns – 3-4 times annually

MCH/Epi 630 – Teratology –annually

PrPh887 - Ethical, Legal and Social Issues in Pharmacogenetics

Women’s Mental Health Symposium – annual presentation on teratology

GENE 585, Introduction to Birth Defects: Embryology, Teratology and Genetics - teach every 3

years primarily to Maternal-Fetal Medicine fellows; taught in fall 2013 to MFM fellows

Numerous community lectures on clinical genetics and teratology

Dorothy L. Quinn

Curriculum Vitae

Page 5

Other Activities:

Annual OB/GYN resident and Maternal Fetal Medicine fellow interviews

Coordinate rotation for first year OB/GYN residents in Genetics (prenatal, cancer and

teratology)

Arizona State Genetics Advisory committee

Task Force on Preventing Prenatal Exposure to Alcohol and Other Drugs

Reviewer for Birth Defects Research, Journal of Clinical Psychiatry, Journal of Genetic

Counseling, Pharmacology

Abstract reviewer for annual Teratology Society meeting

Reviewer for Genomic Medicine Primer for the National Society of Genetic Counselors

Member, University of Arizona Medical Review Board for clinical exome sequencing

Founding member, Sanford Children’s Genomic Medicine Consortium

Founding member, Center for Applied Genetic and Genomic Medicine

Page | 1 Valerie M. Schaibley

Valerie M. Schaibley 5940 N. Camino Escalante

Tucson, AZ 85718 260.249.9629

[email protected]

Education University of Michigan 2013 Ann Arbor, MI PhD – Human Genetics Department of Human Genetics Thesis Advisor: Jun Li Thesis Committee: David Burke, Donna Martin, Sebastian Zöllner, Julie Douglas, Jun Li Thesis Title: Understanding the Patterns and Consequences of Single-Nucleotide Mutations in the Human Genome Using High-Throughput Sequencing Purdue University 2007 West Lafayette, IN BS Honors in Research Department of Biology Major: Molecular Biology, Minor: Spanish Thesis Advisor: Peter J. Hollenbeck Thesis Title: Movement of Mitochondria in Drosophila Axons Employment 2016-Present Administrator Center for Applied Genetics and Genomic Medicine University of Arizona Health Sciences, Tucson AZ

• Provide administrative and scientific leadership for ongoing and future Center initiatives.

• Collaborate with organizations throughout UAHS to effectively advance the Centers goals and aspirations of the Center and its basic, translational and educational programs.

• Lead, conduct and collaborate on special projects and events, including new programs, events, seminars and grants.

2014-2016 Geneticist and Genetic Counselor Manager

• Manage a team of contract Genetic Counselors • Write, edit, and oversee the entire development of written test

reports for patient and physician audiences • Develop, edit, and provide feedback for physician and patient-

focused marketing material • Additional responsibilities detailed below


2013-2014 Geneticist ActX Inc, Seattle, WA

• Develop and edit written content describing genetic testing results and basic genetics information for patients and physicians

• Curate genetic variants associated with human genetic disease for use in genetic testing

• Design, test, and assist with implementation of genotyping methodologies

• Develop and implement bioinformatic analysis tools and pipelines Research Experience 2013 Postdoctoral Researcher

University of Michigan Ann Arbor, MI Advisor: Jun Z. Li

• Development of SubSim: a forward genetic simulation program to model neutral evolution in the human genome

• Testing and preparing SubSim for publication and distribution

2008-2013 Graduate Research Assistant University of Michigan, Ann Arbor, MI Advisor: Jun Z. Li

Thesis Title: Understanding the Patterns and Consequences of Single-Nucleotide Mutations in the Human Genome Using High-Throughput Sequencing

• Identified a candidate mutation in family with a rare genetic mental retardation and hearing loss disorder, Martin-Probst Syndrome

• Studied the genomic context of single-nucleotide mutations in the human genome

• Developed and programmed SubSim: a forward genetic simulation software to analyze neutral evolutionary processes in the human genome

• Extensive programing experience in Python and R • Statistical data analysis

2005-2007 Undergraduate Research Assistant Purdue University, West Lafayette, IN Advisor: Peter J. Hollenbeck Thesis Title: Movement of Mitochondria in Drosophila Axons

• Earned Honors in Research for undergraduate research experience

• Awarded two Howard Hughes Summer Research Internship • Developed basic data analysis tools for studying mitochondrial

motility • Prepared molecular tools used to decrease gene expression of

motility proteins • Presented research findings at inter-departmental events and

wrote a thesis describing my work


Science Writing Experience

2015 Contributing Writer for TapGenes • Develop general medical-related posts for TapGenes, a health

and wellness blog 2013 Contributing Writer for the LOH Down on Science

• Develop content for the LOH Down on Science podcast, a daily 90 second science podcast geared toward a general audience

2013 Contributing Writer for DoubleXScience

• Develop content for the popular science blog, DoubleXScience

Teaching and Mentoring Experience

2012 Undergraduate Research Student Mentor University of Michigan, Ann Arbor, MI

• Helped develop, manage, and execute a research project for an undergraduate student, Tiara Forsyth

2011, 2012 Graduate Student Instructor

Arizona State University, Tempe, AZ Mathematical and Theoretical Biology Institute Summer Program

• Taught two laboratory and two lecture sessions to a group of 35-40 students

• Developed lecture and laboratory material to increase student participation and engagement

• Mentored students on summer research projects 2011 Graduate Student Instructor University of Michigan, Ann Arbor, MI Department of Human Genetics HUMGEN 541: Introduction to Molecular Biology

• Developed material for and led two weekly discussion sections

• Coordinated with many professors to organize this team-taught class

• Assisted with writing new exam material and graded exams

2011-2013 Southeast Michigan Science Fair Judge

• Judged science fair projects from across scientific disciplines for middle school and high school projects

2008-2010, 2012 Tutor University of Michigan, Ann Arbor, MI Program in Biomedical Sciences


• Tutored first year graduate students either independently or in a group for the Introduction to Molecular Biology course

2005-2007 Tutor Purdue University, West Lafayette, IN Biology Resource Center

• Tutored freshman and sophomore biology undergraduate students in the core biology classes

Awards and Honors

2013 Department of Human Genetics Neel Award 2009-2011 Trainee, Genome Sciences Training Grant, University of Michigan 2008 Shapiro Malik Award, University of Michigan 2005, 2006 Howard Hughes Summer Research Internship, Purdue University 2003-2007 Deans List, Purdue University

Professional Service

2007-2013 Women in Science and Engineering, Member 2012 Education Committee, Department of Human Genetics 2011 Graduate Admissions Committee, Department of Human Genetics 2010 Faculty Admissions Committee, Department of Human Genetics 2008 Social Events Committee, Department of Human Genetics

Membership in Professional Societies

2008-Present American Society of Human Genetics Publications Schaibley VM, Zawistowski M, Wegmann D, Ehm MG, Nelson MR, St. Jean PL, Abecasis G, Novembre J, Zöllner S, Li JZ. (2013), The Influence of Genomic Context on Mutation Patterns in the Human Genome Inferred from Rare Variants, Genome Research. 23:1974-1984. PMCID: PMC3847768 Bedoyan, JK, Schaibley VM, Peng W, Bai Y, Mondal K, Shetty A, Durham M, Dhiraaj A, Skidmore JM, Kaplan J, Skinner C, Stevenson R, Schwartz C, Antonellis A, Zwick M, Cavalcoli J, Li JZ, Martin DM. (2012), RAB40AL is mutated in Martin-Probst Syndrome, a rare X-linked multisystem neurodevelopmental disorder. Journal of Medical Genetics. 49:332-340. PMCID: PMC3350147 Arlt MF, Mulle JG, Schaibley VM, Ragland RL, Durkin SG, Warren ST, Glover TW. (2009) Replication Stress Induces Genome-wide Copy Number Changes in Human Cells that Resemble Polymorphic and Pathogenic Variants. Am J Hum Genet. 84:339-350. PMCID: PMC2667984


Invited Talks University of Michigan Department of Human Genetics Annual Retreat Kellogg Biological Station, Hickory Corners, MI, September 29, 2012 The Influence of Genomic Context on Mutation Patterns Inferred from Rare Variants International Congress of Human Genetics, Ataxia-Telangiectasia and Genome Instability Workshop, Montreal, Canada, October 11, 2011 Rate and Molecular Spectrum of Spontaneous Mutations in the Human Genome Inferred from Rare Variants Found by Sequencing 202 Drug Target Genes in 14,000 Individuals Poster Presentations American Society of Human Genetics, San Francisco, CA, 2012 The Influence of Genomic Context on Mutation Patterns in Extremely Rare Variants V. M. Schaibley, M.Zawistowski, D. Wegmann, D. Kessner, M.G. Ehm, J.C. Whittaker, S.L. Chissoe, V.E. Mooser, M.R. Nelson, G. Abecasis, J. Novembre, S. Zöllner, J.Z. Li International Congress of Human Genetics, Montreal, Canada, 2011 Rate and Molecular Spectrum of Spontaneous Mutations in the Human Genome Inferred from Rare Variants Found by Sequencing 202 Drug Target Genes in 14,000 Individuals V. M. Schaibley, M.Zawistowski, D. Wegmann, D. Kessner, M.G. Ehm, J.C. Whittaker, S.L. Chissoe, V.E. Mooser, M.R. Nelson, G. Abecasis, J. Novembre, S. Zöllner, J.Z. Li International Congress of Human Genetics, Montreal, Canada, 2011 Mutations in RAB40AL cause Martin-Probst syndrome, an X-linked disorder characterized by sensorineural hearing loss, cognitive impairment, short stature, and craniofacial dysmorphisms. J.K.Bedoyan, V. Schaibley, W. Peng, Y. Bai, K. Mondal, A.C. Shetty, M. Durham, A. Dhiraaj, J.M. Skidmore, J.B. Kaplan, C. Skinner, R.E. Stevenson, C.E. Schwartz, A. Antontellis, M.E. Zwick, J.D. Cavalcoli, J. Li, D.M. Martin American Society of Human Genetics, Washington, DC, 2010 Candidate Gene Identification for Distinct Mendelian Disorders using Exome Resequencing V. M. Schaibley, J.K. Bedoyan, W. Peng, Y. Bai, J. Xu, K. Monda, A.C. Shetty, M.E. Zwick, J.D. Cavalcoli, C. Keegan, D.M. Martin, J.Z. Li American Society of Human Genetics, Philadelphia, PA, 2008 Replication stress induces submicroscopic copy number changes in normal human cells M.F. Arlt, J.G. Mulle, V.M. Schaibley, S.T. Warren, T.W. Glover

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