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[Updated 10/06/2015] CURRICULUM VITAE

NAME: Gerald Bradley Schaefer MD, FAAP, FFACMG PRESENT POSITION: Founding Director, Division of Medical Genetics University of Arkansas for Medical Sciences Section Chief, Genetics and Metabolism and “Committee for the Future” Endowed Professor of Pediatrics Arkansas Children’s Hospital

ADDRESS: University of Arkansas for Medical Sciences Arkansas Children’s Hospital 1 Children’s Way Slot 512-22 Little Rock, AR 72202 PHONE: 501/364-2971 FAX: 501/364-1564 EMAIL: SchaeferGB@uams.edu BIOGRAPHICAL: Born: Colorado Springs, Colorado USA Married: Rebecca Lynn (Dorrough) Schaefer Children: Lauren Nicole Schaefer Gerald Boyd Schaefer III Home 3404 Buckhorn Trail Address: Little Rock, AR Phone: 501/246-4125 EDUCATION: 1975 High School Diploma (Valedictorian), Bitburg American High School, Bitburg, Germany. 1978 Bachelor of Science (B.S.), Summa Cum Laude, University of Oklahoma, Norman, Oklahoma. 1982 Clinical Fellow in Genetics, Johns Hopkins University, Baltimore, Maryland. (4th year medical student, 4

month rotation) 1982 Doctor of Medicine (M.D.), University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma. 1984 Resident (Pediatrics), University of Oklahoma Health Sciences Center, Oklahoma Children's Memorial

Hospital, Oklahoma City, Oklahoma, (Special Alternative Pathway in Pediatrics) 1986 Fellow (Pediatric Genetics, Endocrinology and Metabolism), University of Oklahoma Health Sciences

Center, Oklahoma Children's Memorial Hospital, Oklahoma City, Oklahoma. 2000 Faculty Development Fellowship Program (Mini-Sabbatical, June-August). Pediatric Neurology, Neuro-

anatomy, and Neuromuscular Diseases. Riley Children’s’ Hospital, Indianapolis, IN. 2015 Faculty Development Fellowship Program (Mini-Sabbatical, September – November). Pediatric

Genomic Medicine. Center for Pediatric Genomic Medicine. Children’s’ Mercy Hospital, Kansas City MO.

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ADMINISTRATIVE TRAINING: 1995 UNMC Leadership Institute 2005 The Nebraska Medical Center, Physicians Development Leadership Series, Part I 2006 The Nebraska Medical Center, Physicians Development Leadership Series, Part II - Advanced

Leadership Topics 2006 23rd Annual Academic Chairpersons Conference, Orlando FL FACULTY APPOINTMENTS: Assistant Professor of Zoology, University of Oklahoma, Norman, 1985 - 1990 Assistant Professor of Pediatrics, Division of Genetics, Endocrinology and Metabolism, University of Oklahoma

College of Medicine, 1986 - 1990 Associate Professor of Pediatrics, University of Nebraska Medical Center. 1990 - 1996 Associate Professor of Zoology (Adjunct Faculty), University of Oklahoma, Norman. 1993 - 1996 Associate Clinical Professor of Pediatrics, Creighton University School of Medicine. 1995 - 2004 Professor of Pediatrics, with Continuous Appointment (tenure), University of Nebraska Medical Center. 1996 -

2008 Member, Eppley Cancer Center, 1995 - 2008 Molecular and Biochemical Etiology of Cancer Program 2007 - 2008 Clinical Professor of Pediatrics, Creighton University School of Medicine. 2004 - 2008 Adjunct Member of the Graduate College, University of Arkansas. 2005 - 2008 Adjunct Professor, School of Health, Physical Education and Recreation. University of Nebraska at Omaha.

2006 – 2008 Faculty Fellow, Graduate College, University of Nebraska Medical Center. 1993 - Present Professor of Zoology (Adjunct Faculty), University of Oklahoma, Norman. 1996 - Present Instructor, Department of Genetic Counseling, University of Arkansas for Medical Sciences, 2004 - Present Professor of Genetics and Pediatrics, with Continuous Appointment (tenure), University of Arkansas for Medical

Sciences. 2008 - Present Member of the Graduate College, University of Arkansas. 2008 – Present Adjunct Professor, Department of Pediatrics, University of Kansas Medical School (Wichita branch). 2010 – Present UNIVERSITY COMMITTEES Medical Records Committee, Children's Hospital of Oklahoma. 1986 - 1990 Infant Care Review Committee, Children's Hospital of Oklahoma.1988 - 1990 Research Development Committee, Meyer Rehabilitation Institute, University of Nebraska Medical Center. 1990

- 1994 Chancellor's Distinction through Quality Council, University of Nebraska Medical Center, 1990 - 1995 Quality Assurance Committee, Meyer Rehabilitation Institute, University of Nebraska Medical Center, Chairman.

1994 - 1999 Committee on Basic Research. Eppley Cancer Institute. University of Nebraska Medical Center. 1994 - 2008 UAP Coordinating Group. Meyer Rehabilitation Institute University of Nebraska Medical Center. 1994 - 2008 College of Medicine Strategic Planning - Genetics subsection. 1994 - 1997 Hattie B. Munroe Center for Human Genetics. Expansion design group. 1994 - 1997 CRC Clinical Advisory Committee. 1996 - 1998 Promotion and Tenure Committee, Department of Pediatrics

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Co-chairman. 1996 - 1997 Chairman 1997 - 2008 College of Medicine Strategic Planning - Neurosciences subsection. 1997 - 1998Medical School Curriculum Review. Genetics Mini -Task Force. Chairman. 1997 - 1998 UNMC Compliance Committee, 2000 - 2005 Nebraska Health Systems, Clinical Information Management Committee. 2003 - 2005 Pearson Memorial Funds Committee 2002 - 2008 Cheryl Lozier Memorial Fund Committee. 2005 - 2008 Lab Utilization Committee, Arkansas Children’s Hospital, 2008 – 2009 UAMS, Department of Pathology Chair Search Committee, 2010 Arkansas Children’s Hospital Board of Directors, Rotating Physician, August – Oct 2010 Medical Staff Executive Committee, Arkansas Children’s Hospital, 2010 – 2012 Student Promotions Committee (Alternate). 2013 - 2014 UAMS P&T Committee, 2013 – 2015 Resident Mentoring Committee, Department of Pediatrics, UAMS, 2008 – Present Pediatric Junior Medical Student Curriculum Committee, 2009 - Present Hospital Advisory Board, University Hospital, UAMS, 2008 – Present Faculty Group Practice Board. UAMS, 2008 – Present Basic Sciences Chairs, UAMS, 2008 – Present Clinical Chiefs, UAMS, 2008 – Present UAMS, Faculty Group Practice, Telemedicine Committee, 2010 – Present UAMS / DOP Leadership Institute Advisory Committee 2011 – Present ACH Referring Physicians Coordinating Council – 2012 - Present LCME Self-Study Committee (MD educational group), 2013 – Present UAMS Academic Standards Committee, 2013 – Present UAMS, Department Bioinformatics Chair Search Committee, 2014 – Present UAMS, Personalized Medicine Committee, 2014 – Present ACH, Pediatric Genomic Medicine Workgroup. Co-Director. 2015 - Present ADMINISTRATIVE ACTIVITIES Director, Neurogenetics Clinic, Oklahoma Children’s’ Memorial Hospital 1986 - 1990 Director, Growth Disorders Clinic, (Oklahoma Children’s’ Memorial Hospital 1987 - 1990 Chief, Rehabilitation and Genetic Medicine, Meyer Rehabilitation Institute, University of Nebraska Medical

Center, 1990 - 1999 Director, Neurogenetics Clinic, University of Nebraska Medical Center, 1991 - 1999 Co-director, Cleft Palate / Craniofacial Clinic, Boystown National Research Hospital, 1991 - 1996 Medical Director, Marfan Syndrome / Connective Tissue Disorders Clinic, University of Nebraska Medical

Center, 1992 - 1995 Interim Chief, Molecular Genetics, Meyer Rehabilitation Institute, University of Nebraska Medical Center, 1993 -

1999 Associate Director, Hattie B. Munroe Center for Human Genetics. 1995 - 1999 Director, Cleft Palate / Craniofacial Clinic, Boystown National Research Hospital, 1996 -2008 Human Genetics Section Chief, Department of Pediatrics, University of Nebraska Medical Center, 1992 - 2008 Medical Director, Munroe - Meyer Institute for Genetics and Rehabilitation. 1995 - 2008 Co-Director, Helmet Clinic, Omaha Children’s Hospital, 1995 - 2008 Associate Director, Munroe - Meyer Institute for Genetics and Rehabilitation. 1997 - 2008 Chief, Clinical Genetics, Munroe - Meyer Institute for Genetics and Rehabilitation. 1999 - 2008 Interim Director, Hattie B. Munroe Center for Human Genetics. 1999 - 2002 Compliance Officer, Munroe - Meyer Institute for Genetics and Rehabilitation. 2000 - 2005

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Associate Chairman for Faculty Development, Department of Pediatrics, University of Nebraska Medical Center, 2003 – 2008

Chair, Pediatric Emergency Medicine Search Committee, 2012 – 2013 Medical Director, Department of Genetic Counseling, University of Arkansas for Medical Sciences, 2004 -

Present Chief, Section of Genetics and Metabolism, Department of Pediatrics, University of Arkansas for Medical

Sciences, 2008 - Present Medical Director, Genetic Programs, Arkansas Children’s Hospital. 2008 – Present Founding Director, Division of Medical Genetics, University of Arkansas for Medical Sciences. 2008 – Present ACH Cystic Fibrosis QI Advisory Committee. 2012 – Present Interim Medical Director, Arkansas Newborn Screening Program (Arkansas Department of Health) 2013 - 2014 Administrative Director, Craniofacial and Oro-facial Cleft clinics, ACH, 2013 – present. Interim Chief, Section of Endocrinology, Department of Pediatrics, University of Arkansas for Medical Sciences,

2014 - Present Medical Director, Arkansas Newborn Screening Program (Arkansas Department of Health) 2015 - Present EXTERNAL COMMITTEES / ADVISORY BOARDS Newborn Metabolic Screening Advisory Committee, Oklahoma State Health Department. 1988 - 1990 Great Plains Genetic Service Network.

Prenatal Diagnosis / Newborn Screening Advisory Committee, 1988 - 2003 Committee Chairman 1989 - 2003

Steering Committee. 1993 - 1996 Network Co-director 1993 - 2003

Medical Advisor for Oklahoma Chapter of Turner Syndrome Society 1987 - 1990 Medical Advisor for Oklahoma Chapter of Human Growth Foundation 1988 - 1990 National Medical Advisory Committee. Turner Syndrome Society of the United States. 1990 - 1993 Invited participant, American Cleft Palate/Craniofacial Association, Consensus Conference on Parameters of

Care. 1993 Newborn Screening Advisory Committee, Nebraska State Department of Health. Newborn Screening Technical Advisory Committee 1993 - 2005 Hearing Screening Committee 2000 - 2008 Omaha Needs Assessment Project. Technical Advisory Committee. 1993 - 1996 Association of Professors of Human or Medical Genetics. UNMC representative. 1994 - 2008 Nebraska Interagency Coordinating Council. 1995 - 1998.Nebraska Early Childhood Interagency Coordinating Council.1998 - 2004 March of Dimes Birth Defects Foundation, Nebraska Chapter. Program Services Committee. 1997 - 2001 Clinical Outcomes Research Council. American Cleft Palate - Craniofacial Association. 1997 - 2002Advisory Committee. FEAT (Families for Early Autism Treatment) of Nebraska. 1997 - 1998 Nebraska Commission on Human Genetic Technology. 1997 - 1998 Maternal and Child Health Collaborative Steering Committee. 1998 - 2001 Neural Tube Defect Campaign Coalition, 1998 - /2001. Governor’s Blue Ribbon Task Force on Infant Mortality. 1999 - 2001 Chairman, Congenital Anomalies Committee. 2000 - 2001 Committee on Genetics, American Academy of Pediatrics, 2001 - 2007 Chairman, 2003- 2007. Heartland Regional Genetics and Newborn Screening Collaborative Region V Steering (Startup) Committee June 2004 -Feb 2005 Executive Committee 2005 - 2006

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Clinical Services Committee - 2005 - 2009 Heartland Regional Council on Genetics Feb 2005 - Sept 2007 Heartland Advisory Board Oct 2007 – Present Medical Advisor, Turner Syndrome Support Association of Nebraska. 2004 - 2008. National Newborn Screening & Genetics Resource Center. Genetics Advisory Board. 2005 - 2008 Nebraska Statewide Telehealth Network, Clinical Applications Sub-committee. 2007 – 2008 Governor’s Special Education Improvement Committee. 2012 – 2013 Genetics Section - American Academy of Pediatrics (Member). 1993 - Present. National Medical Advisory Committee. Sotos Syndrome Support Association. 1995 -Present Arkansas Genetics Health Committee 2008 – Present Chair, Pediatric Sub-Committee 2009 – 2014 Committee Chair, 2014 - Present National Birth Defects Prevention Study. Clinical Committee. 2008 – Present Heartland Regional Genetics and Newborn Screening Collaborative, Director. 2009 – Present American Academy of Pediatrics: Arkansas Chapter Champion, Early Hearing Detection and Intervention Program. 2009 – Present March of Dimes, Arkansas Chapter. Advocacy and Government Affairs Committee. 2013 – Present. South Central Telehealth Center Advisory Board. 2013 – Present. Arkansas Reproductive Health Monitoring System, Advisory Commission. 2014 – Present. Arkansas FASD Advisory Board, 2014 – Present. BOARD OF DIRECTORS Turner Syndrome Society of the United States, National Organization. Executive Board of Directors.

1988 - 1989 Christian International Foundation, Inc. (CIFI) Board of Directors 2008 – 2010 EDITORIAL / REVIEWER ACTIVITIES Clin. Commun. Disord. Volume 2, No. 4, 1992. G.B. Schaefer, Guest Editor, ‘Special Issue’, Genetics in

Communication Disorders. Clin. Neurol. Volume 12 (4) Nov. 1994. G.B. Schaefer, Guest Editor, Pediatric Neurogenetics Newsletter for Breast Cancer Prone Families. Associate Editor 1995 - 1999 . J. Commun. Disord. Volume 31, No. 5, 1998. G.B. Schaefer, Guest Editor, Special Issue, Genetics and

Hearing. Invited Grant Reviewer, NIH, Internal Competition Grants, 2000 Invited Reviewer NIH, National Research Service Award, 2000 Invited Reviewer, NIH / National Institute of Nursing Research, 2001- 2007. Guest Editor, Seminars in Neurology, Clinical Neurogenetics Volume 8 (3), September 2001. Expert Reviewer, National Library of Medicine. Genetics Home Reference. http://ghr.nlm.nih.gov/, 2006 – 2009. Invited Reviewer, Journal of Intellectual & Developmental Disability, 2006 - 2008. Guest Editor, Seminars in Pediatric Neurology, Neurogenetics - 4 part series Part 1. Advances in Clinical Genetics. March 2007.

Part 2. Common Genetic Syndromes September 2007 Part 3. Common Neurologic Signs March 2008 Part 4. Neuro-metabolic Conditions September 2008 Editorial Board, J. Child. Neurol. 1995 - Present (Book Review Editor 2001 – 2006). Invited Reviewer, Metabolism 1992 - Present Invited Reviewer Amer. Cleft Palate Craniofacial Journal 1999 - Present

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Invited Reviewer, American Journal of Medical Genetics, 2007 – Present Invited Reviewer, Autism: International Journal of Research and Practice, 2010 – Present Invited Reviewer, Genomics, 2011 – Present Invited Reviewer, Advances in Urology, 2011 – Present Genetics Home Reference (http://ghr.nlm.nih.gov/). Content Reviewer. 2012 - Present Editorial Board, Frontiers in Child Health and Human Development, 2013 – Present BOARDS Completed National Boards, Parts I, II, III (NBME): 07/01/81 Pediatric Specialty Boards (FAAP): 11/08/87. Pediatric Endocrinology (AAP): 07/14/89 - 1/30/97 Re-certified 1997 - 2003 Re-certified 2004 - 2010 Medical Genetics (ABMG) : 09/28/93 - 12/01/2003 Re-certified 2004 - 2005 Re-certified 2006 - 2007 Re-certified 2008 - 2009 Re-certified 2010 - 2019 Eligible Biochemical Genetics MEDICAL LICENSES Oklahoma # 14354 1983 – 1990, 2014 - Present South Dakota # 5106 2002 - 2008 North Dakota # 10164 2006 - 2008 Nebraska # 18185 1990 - Present Arkansas # E-5822 2008 - Present Kansas # 04-34184 2010 - Present SOCIETY MEMBERSHIPS Genetics Society of America American Medical Association Oklahoma County Medical Society Oklahoma State Medical Society Oklahoma Endocrine Society. President 1988 - 1989 Southern Society for Pediatric Research Pediatric Endocrine Society of Texas, Oklahoma, Louisiana, and Arkansas (PESTOLA) Nebraska Chapter, American Academy of Pediatrics Great Plains Genetic Service Network Great Plains Clinical Genetics Society Vice-President 1991 - 1992, President 1992 - 1993 Midwest Society of Pediatric Research American Association for Cancer Research Children’s Oncology Group 2004 - 2008 National Perinatology Society American Academy of Pediatrics, Fellow, 1989 - Present

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American Society of Human Genetics 1992 - Present American College of Medical Genetics, Founding Fellow 1993 - PresentAmerican Cleft Palate - Craniofacial Association 1995- Present Society for Pediatric Research 2003 - Present American Pediatric Society 2007 – Present Arkansas Medical Society 2008 - Present AWARDS / HONORS Valedictorian, Bitburg American High School, Bitburg, Germany, 1975. University Scholar, University of Oklahoma, Norman, Oklahoma, 1975. Phi Beta Kappa, 1978. Phi Sigma Phi Sigma Undergraduate Research Award, University of Oklahoma, Norman, Oklahoma, 1978. Sigma Xi, 1978. Ruth Rader Award - OUHSC Outstanding House Staff/Fellow, 1985. Reagents Appointed Endowed Chair: Munroe-Meyer / Scottish Rite Masonic Professor of Child Health, 2001 - 2008. Runner-up, Golden Apple Teaching Award, Senior Medical Class, UNMC, 2008 Hobart E. Wiltse, M.D., Ph.D. Excellence In Medical Education Award, University of Nebraska Medical Center,

Department of Pediatrics, 2008. Committee for the Future Endowed Chair, Genetics, Arkansas Children’s Hospital, 2008 – Present Alpha Omega Alpha, Member Arkansas Chapter, 2008 – Present. Golden Apple Teaching Award, Sophomore Medical Class, UAMS, 2011 Red Sash Teaching Award, Senior Medical Student Class, UAMS, 2011 Gold Sash Teaching Award, Senior Medical School Class, UAMS, 2013. UAMS Medical School Convocation, Invited Faculty Speaker, 2013 Red Sash Teaching Award, Senior Medical Student Class, UAMS, 2014 Red Sash Teaching Award, Senior Medical Student Class, UAMS, 2015 COMMUNITY SERVICE Deacon, Westside Church, Omaha, NE. 1992 - 2001. Academic Olympics Coach - Burke High School 1997 - 2003. Science Curriculum Review Committee, Trinity Christian School. 2000 - 2003. Elder, Emmanuel Fellowship Church. 2003 - 2008. Vice Chairman, Elder Board, 2006 - 2008. Board of Directors, Christian International Foundation, Inc. 2008 – 2010. Leadership Advisory Team, Parkway Place Baptist Church, 2014 – Present. PEER-REVIEWED PUBLICATIONS 1. Schaefer, G.B. and Thompson, J.N.: Mutant Influences Upon Vein Patterns in Drosophila. Bios.,

157(3):103-109, 1977. 2. Thompson, J.N.; Woodruff, R.C. and Schaefer, G.B.: An Assay of Somatic Recombination in Male

Recombination Lines of Drosophila melanogaster. Genetics, 49(1):77-80, 1978. 3. Schaefer, G.B. and Self, J.T.: Bothriocephalus euryciensis N. Sp. (Cestoidea Pseudophyllidea) From the

Cave Salamander Eurycea longicauda. Proc. Okla. Acad. Sci., 58:154-155, 1978. 4. Thompson, J.N.; Toney, J.V. and Schaefer, G.B.: Pattern Compensation in Drosophila Wing Vein

Development. Heredity, 44(1):93-102, 1980.

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5. Brownsworth, R.D.; Bodensteiner, J.B.; Schaefer, G.B. and Barnes, P.: CT and MRI Findings in Late Onset Globoid Cell Leukodystrophy (Krabbe's Disease): A Case Presentation. Ped. Neurology, 1(4):242-244, 1985.

6. Thompson, J.N.; Schaefer, G.B.; Conley, M.C. and Mascie-Taylor, C.G.N.: Parental Age Can Affect the Severity of an Inherited Human Trait. (Letter) N. Engl. J. Med., 314(8):521, 1986.

7. Schaefer, B.; Stein, S.; Oshman, D.; Rennert, O.; Thurnau, G.; Walls, J.; Bodensteiner, J. and Brown O.: Dominantly Inherited Craniodiaphyseal Dysplasia - A New Craniotubular Dysplasia. Clin. Gen. 30(5):381-391, 1986.

8. Leech, R.; Bolby, L.; Brumbach, R. and Schaefer, B. : Agnathia, Holoprosencephaly and Situs Inversus: Report of a Case. Am. J. Med. Gen. 29:483-490 ,1988.

9. Bodensteiner, J.; Gay, C.; Marks, W.; Hamza, M. and Schaefer, B.: The Macro Cisterna Magna: A Marker For Maldevelopment of the Brain? Ped. Neurol. 4(5):284-286, 1988.

10. Marks, W.; Brumbach, R.; Schaefer, B.; Pendleton, B.; Farris B. and Culbertson, J.: Acidophilic Stem Cell Adenoma in a Prepubescent Female. J. Neurosurg., 70:266-270, 1989.

11. Blackett, P.; Coffman, M.; Schaefer, B. and Rennert, O.: Dominantly Inherited Childhood Gigantism Resembling Sotos Syndrome. Am. J. Med. Sci. , 297:181-185, 1989.

12. Lutz, R.; Bodensteiner, J.; Schaefer, B. and Gay, C.: X-linked Olivopontocerebellar Atrophy. Clin. Gen. 35:417-422, 1989.

13. Schaefer, B.; Thompson, J.N.; Bodensteiner, J.; Hamza, M.; Tucker, R.; Marks, W.; Gay, C. and Wilson, D.: Quantitative Morphometric Analysis of Brain Growth Utilizing Magnetic Resonance Imaging. J. Child Neurol. 5:127-130, 1990.

14. Bobele, G.B.; Garnica, A.D.; Schaefer, G.B.; Leonard, J.; Wilson, D.; Marks, W.A.; Leech, R.W. and Brumback, R.A.: Neuroimaging Findings in Alexander's Disease. J. Child Neurol. 5:253-258, 1990.

15. Bodensteiner, J.B.; Breen, L.; Schwartz, T.L. and Schaefer, G.B.: Hypoplastic Corpus Callosum in Ocular Albinism: Indication of a Global Disturbance of Neuronal Migration. J. Child Neurol. 5:341-343, 1990.

16. Bodensteiner, J.B. and Schaefer, G.B.: The Wide Cavum Septum Pellucidum: A Marker of Disturbed Brain Development. Ped. Neurol. 6:391-394, 1990.

17. Thurnau, G.; Stein, S.; Schaefer, B.; Morgan, M.; and Rennert, O.: Management and Outcome of Two Pregnancies in a Woman with Craniodiaphyseal Dysplasia. Am. J. Perinatology 8(1): 56-61, 1991.

18. Schaefer, G.B.; Thompson, J.N.; Bodensteiner, J.B.; Gingold, M.; Wilson, M. and Wilson, D.: Age-related Changes in the Relative Growth of the Posterior Fossa. J. Child Neurol. 6(1):15-19, 1991.

19. Schaefer, G.B.; Saleeb, S.; Shuman, R.M.; Wilson, D. A.; Domek, D.B.; Johnson, S.F.; Bodensteiner, J.B. and Muneer, R.S.: Partial Agenesis of the Anterior Corpus Callosum: Correlations Between Appearance, Imaging, and Neuropathology. Ped. Neurol. 7(1):39-45, 1991.

20. Schaefer, G.B.; Domek, D.B.; Morgan, M.A.; Muneer, R.S. and Johnson, S.F.: Tetrasomy of the Short Arm of Chromosome 9: Prenatal Diagnosis and Further Delineation of the Phenotype. Am. J. Med. Gen. 38(4):612-615, 1991.

21. Coulter, C.L.; Leech, R.L.; Brumback, R.A. and Schaefer, G.B.: Cerebral Abnormalities in Thanatophoric Dysplasia. Child's Nervous System 7:21-26, 1991.

22. Schaefer, G.B.; Bodensteiner, J.B.; Thompson, J.N.; Wilson, M. and Wilson, D.A.: Clinical and Morphometric Analysis of the Hypoplastic Corpus Callosum. Arch. Neurol. 48:933-936, 1991.

23. Gorby, G.L. and Schaefer, G.B.: Pilus Effects on Neisseria gonorrhoeae Invasion: Computerized Image Analysis of the Fallopian Tube Model. Microb. Path. 13:93-108, 1992.

24. Godfrey, M.; Nejezchleb, P.A.; Schaefer, G.B.; Minion, D.J. and Baxter, B.T.: Elastin and Fibrillin mRNA and Protein Levels in the Ontogeny of Normal Human Aorta. Conn. Tiss. Res. 29:61-69, 1993.

25. Traytsman, M.D.; Schulte, N.; Colombo, J.L.; Sammut, P.H.; Reily, P.; Patel, C.; Acquazzino, D.; Simanek, B.; Anderson, R.; Kimberling, W.J.; Schaefer, G.B. and Sanger, W.G.: Mutation Analysis and Haplotype Correlation for 139 Cystic Fibrosis Patients from the Nebraska Regional Cystic Fibrosis Center. Hum. Mutation. 2:7-15, 1993.

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26. Coulter, C.L.; Leech, R.W.; Schaefer, G.B.; Scheithauer, B.W. and Brumback, R.A.: Septo-optic Dysplasia with Dysfunction of the Hypothalamic-Pituitary Axis in an Infant with Fetal Alcohol Effects. Arch. Neurol. 50:771-775, 1993.

27. MacDonald, M.R.; Schaefer, G.B.; Olney, A.H.; Tamayo, M.; and Frias, J.: Brain Magnetic Resonance Imaging Findings in the Opitz / BBB Syndrome : Extension of the Spectrum of Midline Brain Anomalies Am. J. Med. Gen. 46:706-711, 1993.

28. Langer, L.O.; Schaefer, G.B.; and Wadsworth, DT.: Patient with Double Heterozygosity for Achondroplasia and Pseudoachondroplasia, with Comments on these Conditions and the Relationship Between Pseudoachondroplasia and Multiple Epiphyseal Dysplasia, Fairbank Type. Am. J. Med. Gen. 47: 772-781, 1993.

29. Feingold, M.; Frias, J.L.; Lin, A.E; Schaefer, G.B.; and Horowitz, M.: Telediagnostic Conferencing. Am. J. Dis. Child. 147:1196, 1993.

30. Bodensteiner, J.B.; Schaefer, G.B.; Breeding, L. and Cowan, L.: Hypoplasia of the Corpus Callosum: A Study of 445 Consecutive MRI Scans. J. Child Neurol. 9:47-49, 1994.

31. MacDonald, M.R.; Schaefer, G.B.; Patton, D.; and Olney A.H.: Hypoplasia of the Corpus Callosum and Cerebellar Vermis in Thrombocytopenia-Aplasia Radius Syndrome. Am. J. Med. Genet. 50: 46-50, 1994.

32. Schaefer, G.B.; Bodensteiner, J.B. and Thompson, J.N. Jr.: Subtle Anomalies of the Septum Pellucidum and Neurodevelopmental Deficits. Develop. Med. Child Neurol. 36:554-559, 1994.

33. Schaefer, G.B.; Frias, J.L.; Campbell, E.A.; Ullrich, F.; Patel, K. and Rosenbloom, A.: Facial Morphometry of a Growth-Hormone Resistance Syndrome in an Ecuadoran Population. J. Med. Genet. 31:635-639, 1994.

34. Schaefer, G.B.; Greger, N.G.; Fesmire, J.D.; Blackett, P.R.; Wilson, D.P.: and Frindik, J.P. : Lipids and Apolipoproteins in Growth Hormone Deficient Children During Treatment. Metabolism 43(12) 1457-1461, 1994.

35. Muenke, M.; Gurrieri, F.; Yi, D.; Bay, C.; Collins, A.L.; Johnson, V.P.; Hennekam, R.C.M.; Schaefer, G.B.; Weik, J.; Lubinsky, M.L.; Daack-Hirsh, S.; Moore, C.A.; Dobyns, W.B.; Murray, J.C.; and Price, R.A.: Linkage of a Human Brain Malformation, Familial Holoprosencephaly, to Chromosome 7q36 and Evidence for Genetic Heterogeneity. Proc. National Acad. Sci. 91(17):8102-8106, 1994.

36. Schaefer, G.B.; Novak, K.; Steele, D.; Buehler, B.A; Smith, S. D.; Zalesky, D.; Pickering, D.; Nelson, M. and Sanger, W.G.: Familial Inverted Duplication 7p. Am. J. Med. Gen. 56:184-187, 1995.

37. Schaefer, G.B.; and Godfrey, M.: Quantitation of Fibrillin Immunofluorescence in Fibroblast Cultures in the Marfan Syndrome. Clin. Genet 47:144-149, 1995.

38. Rao,V.H.; Bridge, J.A.; Neff, J.R.; Schaefer, G.B.; Viswanatha, J.K. ; and Rao, J.S.: Expression of 72 Kilodalton and 92 Kilodalton Type IV Collagenase by Cells from Human Giant Cell Tumor of Bone. Clin. Exp. Metastasis 13:420-426, 1995.

39. Schaefer, G.B.; Thompson, J.N.; Bodensteiner, J.B.; McConnell, J.; Kimberling, W.J.; Gay, C. T.; Dutton, W. D. and Gray, S.B.: The Cerebellar Vermis in Neurogenetic Syndromes. Ann. Neurol. 39:382-385, 1996.

40. Bodensteiner J. B; Schaefer G.B.; Keller, G.M. and McConnell, J.M. : Incidental Pineal Cysts in a Prospectively Ascertained Normal Cohort. Clin. Pediatr. 35:277-280, 1996.

41. Sheth, R.D.; Schaefer, G.B.; Ortiz, O.; Keller, G.M.; Hobbs, G.R. and Bodensteiner, J.B.: Size of the Corpus Callosum in Cerebral Palsy J. Neuroimaging 6:180-183, 1996.

42. Schaefer, G.B.; Bodensteiner, J.B.; Buehler, B.A. ; Lin, A. and Cole, T. R. P. : Neuroimaging Findings in Sotos Syndrome. Am. J. Med. Gen. 68:462-465, 1997.

43. MacDonald, M.R. and Schaefer, G.B.: Marshall-Stickler Phenotype in Patients with Von Willebrand Disease. Am. J. Med. Genet. 68:121-126, 1997.

44. Schaefer, G.B.; Jochar, A.; Sanger, W.G. and Muneer, R.: Clinical Variability of Tetrasomy 12p .Clin. Gen. 51:102-108, 1997.

45. Rao, V.H.; Singh, R.K.; Bridge, J.A.; Neff, J.R.; Schaefer, G.B.; Delimont, D.; Dunn, C.M.; Sanger, W. G.; Buehler, B.A.; Sawaya, R. and Rao, J.S. : Regulation of MMP-9 (92 kDa Type IV Collagenase /

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Gelatinase B) Expression in Stromal Cells of Human Giant Cell Tumor of Bone. Clin. Exp. Metastasis 15: 400-409, 1997.

46. Bodensteiner J. B.; Schaefer, G.B.; Keller, G.M.; Thompson, J.N. and Bowen, M.K.: Macrocerebellum : Neuroimaging and Clinical Features of a Newly Recognized Condition. J. Child. Neurol. 12(6):365-368, 1997.

47. Bodensteiner, J.B. and Schaefer, G.B.: Dementia Pugilistica and the Cavum Septum Pellucidum: Born to Box? Sports Med. 24(6):361 -365, 1997.

48. Larson, P. and Schaefer, G.B. : Familial Arterio-venous Malformations in a Three Generation Kindred. Ped. Neurol. 17(1):74 -76, 1997.

49. Bodensteiner, J. B.; Schaefer, G.B. and Craft, J.M.: Cavum Septi Pellucidi and Cavum Vergae in Normal and Developmentally Delayed Populations. J. Child Neurol. 13(3):120-121, 1998.

50. Kumar, S.; Kimberling, W.J.; Weston, M.; Schaefer, G.B.; Berg, M.A. Marres, A.M. and Cremers, W.R.J. : Identification of Three Novel Mutations in Human EYA1 Protein Associated with Branchio-Oto-Renal Syndrome. Hum. Mutat. 11(6):443-449, 1998.

51. Rao, V.; Buehler, B.A. and Schaefer, G.B.: Accelerated Linear Growth and Advanced Bone Age in Sotos Syndrome is Not Associated with Abnormalities of Collagen Metabolism. Clin. Biochem. 31(4):241-249, 1998.

52. Schaefer, G.B.; Bodensteiner, J.B.; Thompson, J.N.: Craft, J.M.; Kimberling, W. : Neuroanatomic Changes in Usher Syndrome. Am. J. Med. Genet. 79:1-4, 1998.

53. Brown, T.W.; Wisnewski, K.E.; Sudhalter, V.; Keogh, M.; Tsiouris, J.; Miezejeski, C. and Schaefer, G. B.: Identical Twins Discordant for Sotos Syndrome. Am. J. Med. Genet. 79(4):329-333, 1998.

54. Pauling, K.J.; Bodensteiner, J.B.; Hogg, J.P. and Schaefer, G.B.: Does Selection Bias Determine the Prevalence of the Cavum Septi Pellucidi? Ped. Neurol. 19:195-198, 1998.

55. Rao, V.H.; Singh, R.K.; Delimont, D.C.; Finnell, R.H.; Bridge, J.A.; Neff, J.R.; Garvin, B.P.; Pickering, D.L.; Sanger, W.G.; Buehler, B. A. and Schaefer, G.B.: Transcriptional Regulation of MMP-9 Expression in Stromal Cells of Human Giant Cell Tumor by Tumor Necrosis Factor - α. Int. J. Oncol. 14:291-300, 1999.

56. Cohn, E.; Kelley, P.; Fowler, T.; Gorga, M.; Lefkowitz, D.; Kuehn, H.; Schaefer, G.B.; Gobar, L.S.; Hahn, F.J.; Harris, D.J. and Kimberling, W.J.: Clinical Studies of Families with Hearing Loss Due to Connexin 26 Mutations. Pediatrics 103(3):546 - 550, 1999.

57. Rao, V.H.; Finnell, R.H.; Bridge, J.A.; Neff, J.R.; Buehler, B. A. and Schaefer, G.B. IL-1 Up Regulates MMP-9 Expression. J. Interferon Cytokine Res. 19:1207 - 1217, 1999.

58. Amalfitano, A.: Bengur, R.A.; Morse, R.P.; Majure, J. M.; Case, L.E.; Veerling, D.L.; Mackey, J.; Kishnani, P.; Smith, W.; McVie-Wiley, A.; Sullivan, J.; Hoganson, G.E.; Phillips, J.A.; Schaefer, G.B.; Ware, R.E.; Bossen, E.H. and Chen, Y.T. : Intravenous Administration of Recombinant, acid-alpha-Glucosidase Safely Reduces Muscle Glycogen Accumulation and Improves the Function of Cardiac and Skeletal Muscle in Infantile Glycogen Storage Disease Type II Patients: Results of a Phase I/II Clinical Trial. Genet. Med. 3(2):132 - 138, 2001.

59. Cauble, M. S.; Mack-Shipman, L.; Schaefer, G.B.; Balakrishman, S. and Larsen, J.L. : Idiopathic Hypothalamic Dysfunction with Precocious Puberty and Adipsic Hypernatremia First Presenting in Adolescence. J. Pediatr. Endocrin. Metabolism 14:1163 - 1167, 2001.

60. Bodensteiner, J.B.; Smith, S.D. and Schaefer, G.B.: Hypotonia, Congenital Hearing Loss and Hypoactive Labyrinths. J. Child. Neurol. 18(3):171-173, 2003.

61. Segal, D.G.; Hirsch-Pescovitz, O.; Schaefer, G. B. and DiMeglio, L.A.: Craniofacial and Acral Growth Responses in Growth Hormone Deficient Children Treated with Growth Hormone J. Pediatr. 144(4):437- 443, 2004.

62. Ball L.J.; Sullivan, M.D.; Dulany, S., Stading, K. and Schaefer, G.B. : Speech-Language Characteristics of Children with Sotos Syndrome. Am. J. Med. Genet. 136A:363-367, 2005.

63. Tatton-Brown, K.; Douglas, J.; Coleman, K.; Baujat, G.; Chandler, K.; Clarke, A.; Collins, A.; Davies, S.; Faravelli, F.; Firth, H.; Garrett, C.; Hughes, H.; Kerr, B.; Liebelt, J.; Reardon, W.; Schaefer, G.B.; Splitt,

11

M.; Temple, K.I.; Waggoner, D.; Weaver, D.; Wilson, L.; Cole, T.; Cormier-Daire, V.; Irrthum, A. and Rahman, N.: Multiple Mechanisms are Implicated in the Generation of 5q35 Microdeletions in Sotos Syndrome. J. Med. Genet. 42(4):307-313, 2005.

64. Waggoner, D. J.; Raca, G.; Welch, K.; Dempsey, M.; Anderes, E.; Ostrovnaya, I.; Alkhateeb, A.; Matsumoto, N.; Schaefer, G.B.; Lese Martin, C. and Das, S.: NSD1 Analysis for Sotos Syndrome - Insights and Perspectives from the Clinical Laboratory. Genet. Med. 7(8) : 524 - 533, 2005.

65. Schaefer, G.B. and Lutz, R.E.: Clinical Genetic Evaluation of Autism Spectrum Disorders Genet. Med. 8(9):549-556, 2006.

66. Slavotinek A.M.; Moshrefi A.; Davis R.; Leeth E.; Schaefer G.B.; Shaw G.; Bristow J. and Pennacchio L.A.: Array Comparative Genomic Hybridization in Patients with Congenital Diaphragmatic Hernia (CDH): Mapping of Four CDH-Critical Regions and Sequencing of Candidate Genes at 15q26.2-15q26.2 Eur. J. Hum. Genet. 14(9):999-1008, 2006.

67. Needelman, H.; Schroeder, B.; Sweney, M.; Schmidt, J.; Bodensteiner, J.B. and Schaefer, G.B.: Ontogeny and Physiology of the Cavum Septum Pellucidum in Premature Infants. J. Child Neurol. 21:298-300, 2006.

68. Kaye, C.I.; Accurso, F.; La Franchi, S.; Lane, P.A.; Northrup, H.; Pang, S.; Schaefer, G.B. and the Committee on Genetics. Introduction to the Newborn Screening Fact Sheets. Pediatrics. 118(3) 1304 - 1312, 2006.

69. Needelman, H.; Schroeder, B.; Sweney, M.; Schmidt, J.; Bodensteiner, J.B. and Schaefer, G.B.: Post-Term Closure of the Cavum Septum Pellucidum and Developmental Outcome in Premature Infants. J. Child Neurol. 22(3) 314 - 316, 2007.

70. Houfek, J.F.; Atwood, J.R.; Wolfe, R.M.; Agrawal, S.; Reiser, G. M.; Schaefer, G.B. and Rennard, S.I. : Knowledge and Beliefs About Genetics and Smoking Among Visitors and Staff at a Health-Care Facility Pub. Health Nursing. 25(1):77-87, 2008

71. Schaefer, G.B. and Mendelsohn, N.J.: Genetics Evaluation of Autism Spectrum Disorders. Genetics in Medicine.10(1):4-12, 2008.

72. Beiraghi, S.; Myers, S.L.; Jensen, S.A.; Kaimal, S.; Chan, C.M; Leon-Salazar, V. and Schaefer, G.B: Cleft lip and Palate: Association With other Congenital Malformations. J. Clin. Pediatr. Dentist. 33(3)207-210, 2009.

73. Fergeson, M; Mulvihill, J.J.; DeHaai, K.; Nees, B.; Piatt, J. and Schaefer, G.B.: Low Adherence to National Guidelines for Thyroid Screening in Children with Down Syndrome. Genetics in Medicine 11(7) 548 – 551, 2009.

74. Johnston, J.J.; Sapp, J.C.; Turner, J.T.; Amor, D.; Aftimos, S.; Kyrieckos, A.A.; Bocian, M.; Bodurtha, J.N.; Cox, G.F.; Curry, C.J.; Day, R.; Donnai, D.; Field, M.; Fujiwara, I.; Gabbett, M.; Gal, M.; Graham, J.M.; Hedera, P.; Hennekam, R.C.M.; Hersh, J.H.; Hopkin, R.J.; Jabs, E.W.; Kayserili, H.; Kidd, A.M.J.; Kimonis, V.; Lin, A.E.; Lynch, S.A.; Maisenbacher, M.; Mansour, S.; McGaughran, J.; Laksmi, M.; Murphy, H.; Raygada, M.; Robin, N.H.; Rope, A.F.; Rosenbaum, K.N.; Schaefer, G.B.; Shealy, A.; Smith, W.; Soller, M.; Sommer, A.M.; Stalker, H.J.; Steiner, B. Stephan, M.J.; Tilstra, D.; Tomkins, S.; Trapane, P.; Tsai, A.; Van Alllen, M.I.; Vasudevan, P.C.; Zabel, B.; Zunich, J.; Black, G.C.M and Biesecker, L.G.: Molecular Analysis Expands the Spectrum of Phenotypes Associated with GLI3 mutations. Hum. Mut. 31:1142-1154, 2010.

75. Schaefer, G.B.: Letter to the Editor Re: ACMG Practice Guidelines and ACMG Standards and Guidelines, Genetics in Medicine, July 2010, volume 12, Number 7, pages 446-463 and 463-470. Genetics in Med. 12(11):748-749, 2010. 76. Schaefer, G.B.; Starr, L.; Pickering, D.; Skar, G.; DeHaai, K. and Sanger, W.G.: Array CGH Findings in a Cohort Referred for an Autism Evaluation. J. Child Neurol. 25(12):1498-503, 2010. 77. Sanmann, J.N.; Schaefer, G.B.; Buehler, B.A. and Sanger, W.G.: Algorithmic Approach for Methyl-CpG

Binding Protein 2 (MECP2) Gene Testing in Patients With Neurodevelopmental Disabilities. 27(3):346-54, 2012.

78. Mulkey, S.B.; Yap, V.L.; Swearingen, C.J.; Kaiser, J.R.; Riggins, M.S. and Schaefer, G.B.: Quantitative

12

Brain MRI in Neonatal Hypoxic-ischemic Encephalopathy. Ped. Neurol.47:101-108, 2012 79. Sanmann, J.N.; Bishay, D.L.; Starr, L.J.; Bell, C.A.; Pickering, D.L.; Stevens, J.M.; Kahler, S.G.;

Schaefer, G.B. and Sanger, W.G.: Characterization of Six Patients with MECP2 Duplications: Novel Insight into the Impact of Size and Genetic Complexity on Phenotype. Am. J. Med Genet Part A. 158A(6):1285-1291, 2012.

80. Rosenfeld, J.A.; Traylor, R.N.; Schaefer, G.B.; McPherson, E.W.; Ballif, B.C.; Klopocki, E.; Mundlos, S.; Shaffer, L. and Aylsworth, A. S with the 1q21.1 Study Group: Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes. European Journal of Human 20(7):754-761, 2012.

81. de Ruijter, J.; de Ru, M. H.; Wagemans, T.; Ijlst, L.; Lund, A.M.; Orchard, P.J.; Schaefer, G.B.; Wijburg, F.A. and van Vlies, N.: Heparan Sulfate and Dermatan Sulfate Derived Disaccharides are Sensitive Markers for Newborn Screening for Mucopolysaccharidoses types I and III. Mol Genet Metab. 107(4):705-10, 2012.

82. Solomon BD, Bear KA, Wyllie A, Keaton AA, Dubourg C, David V, Mercier S, Odent S, Hehr U, Paulussen A, Clegg NJ, Delgado MR, Bale SJ, Lacbawan F, Ardinger HH, Aylsworth AS, Bhengu NL, Braddock S, Brookhyser K, Burton B, Gaspar H, Grix A, Horovitz D, Kanetzke E, Kayserili H, Lev D, Nikkel SM, Norton M, Roberts R, Saal H, Schaefer GB, Schneider A, Smith EK, Sowry E, Spence MA, Shalev SA, Steiner CE, Thompson EM, Winder TL, Balog JZ, Hadley DW, Zhou N, Pineda-Alvarez DE, Roessler E, Muenke M. Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog. J Med Genet. 49(7):473-9, 2012.

83. Deacon, B.S.; Lowery, R.S.; Phillips, P.H. and Schaefer, G.B.: Congenital Ocular Motor Apraxia, the NPHP1 gene, and Surveillance for Nephronopthisis. J. Amer. Assoc. Ped. Ophth. Strabismus. 17(3):332-3, 2013.

84. Mulkey, S.B; Swearingen C.J.; Melguizo M.S.; Glasier C.M.; Ramakrishnaiah R.; Ou X.; Schaefer G.B.; Bhutta A.T.: Multi-Tiered Analysis of Brain Injury in Neonates with Congenital Heart Disease. Ped. Cardiol. 34(8):1772-84, 2013.

85. Zarate, Y.A.; Bell, C. and Schaefer, G.B.: Description of Another case of 3q26.33-q27.2 Micro-deletion Supports a Recognizable Phenotype. Eur. J. Med. Genet. 56:624-625, 2013.

86. Burnside, R.D.; Spudich, L.; Rush, B.; Kubendran, S. and Schaefer G.B.: Secondary Complex Chromosome Rearrangement Identified by Chromosome Analysis and FISH Subsequent to SNP Array Analysis Detection of an Unbalanced Derivative Chromosome 12. Cytogenet. Genome Res. 142(2):129- 33, 2014.

87. Zarate, Y.A.; Lepard, T.; Schaefer, G.B. and Collins, R.C.: Cardiovascular and Genitourinary Anomalies in Patients with Duplications within the Williams Syndrome Critical Region: Phenotypic Expansion and Review of the Literature. Am. J. Med. Genet. A. 164A (8):1998-2002, 2014.

88. Zarate, Y. A.; Shur, N.; Robinc, A.; Garnica, A.D.; Quintos, J.B. and Schaefer, G.B.: Persistent Congenital Hyperinsulinism in Two Patients with Beckwith-Wiedemann Syndrome due to Mosaic Uniparental Disomy 11p. J. Pediatr. Endocrinol. Metab. 27(9-10):951-5, 2014.

89. Goyal, S.; Uwaydat, S.H.; Phillips, P.H. and Schaefer, G.B.: Bilateral Familial Nevus of Ota. J. Am. Assoc. Pediatr. Ophthal. Strabismus ). 18:609-610, 2014.

90. Houfek, J.F.; Soltis-Vaughn, B.S.; Atwood, J.R.; Reiser,G.M. and Schaefer, G.B.: Adult’s Perceptions of Genetic Counseling and Genetic Testing. Appl. Nurs. Res. 28(1):25-30, 2015.

91. Zarate, Y.A.; Bell, C. and Schaefer, G.B.: Radioulnar Synostosis and Brain Abnormalities in a Patient with 17q21.31 Microdeletion Involving EFTUD2. Cleft Palate Craniofac J. 52(2):237-9, 2015.

92. Lam, C.; Wolfe, L.; Golas, G.A.; Huizing, M.; Davids, M.; Kane, M.S.; Krasnewich, D.; Malicdan, M.; Adams, D.; Markello, T.; Zein , W.M.; Gropman, A.; Lodish, M.; Stratakis, C.; Maric, I.; Rosenzweig, S.; Baker, E.; Ferreira, C.; Danylchuk, N.R.; Kahler, S.; Garnica, A.D.; Schaefer, G.B.; Boerkoel, C.F. and Gahl, W.A.:A Third Case of PIGT-CDG: A Clinical and Molecular Report of a Glycophosphatidylinositol Anchor Disorder. Molec. Genet. Metab. 115:128-140, 2015.

93. Zarate, Y.A; Bosanko, K.A.; Bhoj, E.; Ganetzky, R.; Starr, L.J.; Zackai, E.H.; and Schaefer, G.B.:

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Phenotypic Modifications of Patients with Full Chromosome Aneuploidies and Concurrent Suspected or Confirmed Second Diagnoses. Am. J. Med. Genet. A. doi: 10.1002/ajmg.a.37126, 2015. [Epub ahead of print]

94. Starr, L.J.; Grange, D.; Delaney, J.W.; Yetman, A.; Hammel, J.; Sanmann, J.N.; Schaefer, G.B.; Olney, A.H. and Perry, D.: Clinical Features and Cardiac Complications in Mhyre Syndrome Am. J. Med. Genet. A. doi 10.1002/ajmg.a.37273, 2015. [Epub ahead of print]

95. Mosley, B.; Bowman, C.W.; Onukwube, J.; Schaefer, G.B.; Collins, R.T. and Robbins, J.M.: Critical Congenital Heart Defects Among Infants Born in Arkansas Hospitals: Implications for Newborn Screening. (In Press J. Ar. Med. Assoc.)

96. Heinen, C. A.; Jongejan, A.; Watson, P.J.; Redeker, B.; Boelen, A.; Forzano, F.; Kelley, R.; Olney, A.H.; Pierpont, M.E.; Schaefer, G.B.; Stewart, F.; van Trotsenburg, P.; Fliers, E.; Mannens, M. M.; Schwabe, J.W. and Hennekam, R.C.: A Specific Mutation in TBL1XR1 Causes Pierpont Syndrome. (In Press J. Med. Genet.)

97. Rush, E.T.; Sabapathi, A.; Schaefer, G.B.; Sanger, W.G. and Coccia, P.F.: Aplastic Anemia in Patients with Sex Chromosome Aneuploidy: Reports and Hypothesis. (In Press Cytogen. Genom. Res.)

98. Akemi, J. T.; Cho, M. T.; Retterer, K.; Jones, J.; Nowak, C.; Douglas, J.; Jiang, Y.; McConkie-Rosell, A.; Schaefer, G.B.; Kaylor, J.; Telegrafi, A.; Friedman, B.; Douglas, G.; Monaghan, K.A. and Chung,, W.K.: De novo pathogenic variants in CHAMP1 are associated with global developmental delay, intellectual disability, and dysmorphic facial features (In Press Brit. Med. J.)

INVITED REVIEWS / ARTICLES 1. Blackett, P.B.; Lera, T.A.; Garnica, A.D.; Schaefer, G.B.; Domek, D.B.;and Parker, M.: Diabetic

Ketoacidosis at the Children's Hospital of Oklahoma : A Review on Presentation and Management. J. Okla. State Med. Assoc. 82(12):594-601,1990.

2. Schaefer, G.B.: Current Issues in Neural Tube Defects. Neb. Med. J. 76(12):395-397, 1991. 3. Schaefer, G.B. and Bodensteiner, J.B.: Evaluation of the Child with Idiopathic Mental Retardation. Ped.

Clin. North Amer. 39(4):929-943, 1992. 4. Schaefer, G.B., Mathy-Laikko, P. and Bodensteiner, J.B.: Neurogenetic Aspects of Speech and

Language Disorders. Clin. Commun. Disord. 2(4):9-20, 1992. 5. Schaefer, G.B.; Ogborn, S. and Calhoon. P.: Rewards and Recognition. Chapter 6, In Distinction

Through Quality: UNMC Campus Implementation Guidelines. University of Nebraska Press, 1992. 6. Schaefer, G.B.; Sheth, R.D. and Bodensteiner, J.B. : Cerebral Dysgenesis: An Overview. Clinics in

Neurol. 12(4):773 - 788, 1994. 7. Schaefer, G.B. Neuroendocrine and Neurophysiologic Changes of Puberty. Cleft Palate-Craniofacial J.

32(2):95 -99, 1995. 8. Hanna, D.L.; Fisher, M. and Schaefer, G.B.: Update Cerebral Palsy. Part I - Etiology and

Classification. Neb. Med. J. 80(7):174 - 175, 1995. 9. Hanna, D.L.; Fisher, M. and Schaefer, G.B.: Update Cerebral Palsy. Part II - Early Identification and

Intervention. Ne. Med. J. 80(7):176 - 177, 1995. 10. Bodensteiner, J.B. and Schaefer, G.B.: Evaluation of the Patient with Idiopathic Mental Retardation. J

Neuropsych. 7(3):361 - 370, 1995. 11. Schaefer, G.B. Ten Syndromes Most Commonly Associated with Hearing Loss. Adv. Gen. Deafness

2(1):1-4, 1995. 12. Gorga, M.P. and Schaefer, G.B. : Universal Newborn Hearing Screening. The Networker, Pg 7, June

1996. 13. Reiser, G.M. and Schaefer, G.B. : Gene Testing for Cancer Susceptibility. Neb. Med. J. 81(12):416-418,

1996. 14. Olney, A.H. ; Kolodziej, P. ; MacDonald, M.R. and Schaefer, G.B. : Syndrome Clinic Page : Robin

Sequence. ENT Journal 76(9):620, 1997.

14

15. Curry, C.; Stevenson, R.; Aughton, D.; Byrne, J.; Carey, J.; Cassidy, S.; Cuniff, C.; Graham, J.M.; Jones, M.C.; Kaback, M.M.; Moeschler, J.; Schaefer, G. B.; Schwartz, S.; Tarleton, J.; and Opitz, J.:Evaluation of Mental Retardation : Recommendations of a Consensus Conference : American College of Medical Genetics. Am. J. Med. Genet. 72(4): 468 - 477, 1997.

16. MacDonald, M.R.; Kolodziej, P.; Schaefer, G.B. and Olney, A.H.: Syndrome Clinic Page : Stickler Syndrome. ENT Journal 76(10):706, 1997

17. Olney, A.H.; Kolodziej, P.; Schaefer, G.B. and Buehler, B.A.: Syndrome Clinic Page: Oral-Facial-Digital Syndrome Type 1. ENT Journal 76(11): 778, 1997

18. Olney, A.H.: Schaefer, G.B. and Kolodziej, P.: Syndrome Clinic Page : Van der Woude Syndrome. ENT Journal 76(12):852, 1997.

19. Schaefer, G.B.; Olney, A.H. and Kolodziej, P. : Syndrome Clinic Page : Oculo-Auriculo-Vertebral Spectrum. ENT Journal 77(1):17, 1998.

20. Schaefer, G.B.; Olney, A.H. and Kolodziej, P. : Syndrome Clinic Page : Craniofrontonasal Dysplasia. ENT Journal 77(2):90, 1998.

21. Schaefer, G.B. and Bodensteiner, J.B.: Radiologic Findings in Developmental Delay. Seminars in Ped. Neurol. 5(1):33 - 38, 1998.

22. Schaefer, G.B.; Olney, A.H. and Kolodziej, P. : Syndrome Clinic Page : Oto-palatal-digital Syndromes. ENT Journal 77(8):586-587, 1998.

23. Smith, S. D.; Schaefer, G. B.; Horton, M. B.; Tinley, S. and Kimberling, W.J. : Medical Genetic Evaluation for the Etiology of Hearing Loss in Children. J. Comm. Disord. 31(5):371-190, 1998.

24. Olney, A.H.: Schaefer, G.B. and Kolodziej, P.: Syndrome Clinic Page : Kabuki Syndrome. ENT Journal 77(9):734, 1998.

25. Olney, A.H. and Schaefer, G.B.: Syndrome Clinic Page : Turner Syndrome. ENT Journal 77(10):812, 1998.

26. Schaefer, G.B. and Bodensteiner, J.B. : Developmental Anomalies of the Brain in Mental Retardation. Int. Review Psychiatr. 11:47-55, 1999.

27. Rao, V. H.; Singh, R. K ; Finnell, R. H.; Dave, B.J.; Buehler, B. A.; Sanger, W. G. and Schaefer, G.B. : Matrix Metalloproteinases and their Inhibitors in Tumor Invasion and Metastasis. Chemical Sciences. Indian Academy of Sciences, Special Issue : Trends in Collagen. Eds. G. Chandrakasan, N. Yathindre and T. Ramasami. 111:239-255, 1999.

28. Schaefer, G.B. and Olney, A.H. : Hypothalamic Dysfunction with Polydactyly and Hypoplastic Nails. Sem. Ped. Neurol. 6(3):238-242, 1999.

29. Commentary G.B. Schaefer. Sem. Pediatr. Neurol. 6: 245-246, 1999. [Bodensteiner J. B.; Byler D. L. and Jaynes M. E. : The Utility of the Determination of CTG Trinucleotide Repeat Length in Hypotonic Infants. Sem Pediatr Neurol 6:243-245, 1999.

30. Schaefer, G.B.: Response to the Letter to the Editor by Melo et al. - Neuroimaging and Echocardiographic Findings in Sotos Syndrome. Am. J. Med. Genet 90:434, 2000.

31. Schaefer, G.B.: Clinical Genetics in Pediatric Physical Therapy? The Future. Pediatr. Physical Therapy 13:182 - 184, 2001.

32. Coufal, K.L. and Schaefer, G.B.: Windows Into the Mind: The Genetics of Communication. The ASHA Leader May 13:12-13, 2003.

33. Schaefer, G.B. and Riley, H.R.: A Tribute to Henry H. Turner, MD (1892 - 1970). A Pioneer Endocrinologist. The Endocrinologist 14(4):179-184, 2004.

34. Segal, D.G.; Hirsch-Pescovitz, O.; Schaefer, G. B. and DiMeglio, L.A.: Response to the Letter to the Editor by Carvalho, et.al. Craniofacial and Acral Growth Responses in Growth Hormone Deficient Children Treated with Growth Hormone J. Pediatr. 146(2):295-296, 2005.

35. Ellis, C.R.; Lutz, R.E.; Schaefer, G.B.; and Woods, K.E.: Physician Collaboration in Students with Autism Spectrum Disorders. J School Psych. 44(7) 737 - 747, 2007.

36. Schaefer, G.B. Introduction & Glossary of Genetic Terminology. Sem. Pediatr. Neurol. 14(1):1 & 46-47, 2007

37. Schaefer, G.B. Introduction. Sem. Pediatr. Neurol. 14(3):107, 2007. 38. Schaefer, G.B. Introduction. Sem. Pediatr. Neurol. 15(1):1, 2008.

15

39. Schaefer, G.B.: Genetic Considerations in Cerebral Palsy. Sem. Pediatr. Neurol. 15(1):21- 26, 2008. 40. Mendelsohn, N.J. and Schaefer, G.B.: Genetic Evaluation of Autism. Sem. Pediatr. Neurol. 15(1):27-

31,2008. 41. Schaefer, G.B. and Mendelsohn, N.J.: Response to Letter by Chodirker and Chudley [original article GIM

10(4):301-305, 2008]. Genetics in Medicine 10(11)845, 2008. 42. Schaefer, G.B. Introduction. Sem. Pediatr. Neurol. 15(3):109, 2008. 43. Asher, N.G.; Olney, A.H. and Schaefer, G.B.: Case Report: Two Patients With Oculocerebrocutaneous Syndrome and Terminal Digital Amputations. Sem. Pediatr. Neurol. 15(4):221-223, 2008. 44. Herendeen, N. E. and Schaefer, G.B.: Practical Applications of Telemedicine for Pediatricians. Pediatr.

Annals 38(10):567-569, 2009. 45. Schaefer, G.B.: Commentary on “A six year old girl with a ‘leukodystrophy’” Bodensteiner,J.B and Dean,

B. Semin Pediatr Neurol. 17(1):5-6, 2010. 46. Rush, E.T. and Schaefer, G.B.: Identification of an X-linked Deletion Syndrome through Comparative Genomic Hybridization Microarray. Semin Pediatr Neurol. 17(1):51-53, 2010.

47. Macferran, K.M.; Buchmann, R.F.; Ramakrishnaiah, R.; Griebel, M. L.; Sanger, W.G.; Saronwala, A. and Schaefer, G.B.: Pontine Tegmental Cap Dysplasia with a 2q13 Micro-deletion Involving the NPHP1 Gene: Insights into Malformations of the Mid-Hind Brain. Semin Pediatr Neurol. 17(1):69-74, 2010.

48. Schaefer, G.B.: Response to ACMG Practice Guidelines and ACMG Standards and Guidelines, Genetics in Medicine, July 2010, volume 12, number 7, pages 446-463 and 464-70. Genet Med. 12(11) 748-749, 2010.

49. Schaefer, G.B. and Deere, D.: Recognition, Diagnosis and Treatment of Fetal Alcohol Syndrome. J. Ar. Med. Soc. 108(2):38-40, 2011.

50. Schaefer, G.B.: The Primary Care of Fetal Alcohol syndrome AR Fam. Phys. 16(4):14-15, 2012. 51. Schaefer, G.B.: Genetics and Hearing Loss. ASHA Perspective 22:35-45, 2012. 52. Sellars, E.A.; Bosanko, K.A.; Lepard-Tassin, T.; Garnica, A.D. and Schaefer, G.B.: A Newborn With

Complex Skeletal Abnormalities, Joint Contractures, and Bilateral Corneal Clouding With Sclerocornea. Sem. Ped. Neurol. 21(2): 84-87,2014.

53. Schaefer, G.B.: Commentary on “An Unusual Cause of Peroneal Neuropathy” by A. Ananth, and colleagues. Sem. Ped. Neurol. 21(2): 172, 2014.

54. Schaefer, G.B.: Commentary on "Fraternal Twins with Autism, Severe Cognitive Deficit, and Epilepsy: Diagnostic Role of Chromosomal Microarray Analysis” by J.Imitola, and colleagues. Sem. Ped. Neurol. 21(2):82-83, 2014.

COMMITTEE / GROUP PUBLICATIONS 1. Parameters for Evaluation and Treatment of Patients with Cleft lip/Palate or Other Craniofacial

Anomalies. Official Publication of the American Cleft Palate-Craniofacial Association. Pittsburgh, PA. March, 1993.

2. Frias, J.L. and Davenport, M.L. with the Committee on Genetics and the Section on Endocrinology of the American Academy of Pediatrics. Health Care Supervision for Children with Turner Syndrome. Pediatrics 111(3):692-702, 2003.

3. Cunniff, C. and the Committee on Genetics of the American Academy of Pediatrics: Prenatal Screening and Diagnosis for Pediatricians. Pediatrics 114(3):889 - 894, 2004.

4. Trotter, T.L. and Hall, J.G. with the Committee on Genetics of the American Academy of Pediatrics. Health Supervision for Children With Achondroplasia. Pediatrics 116(3):771-783, 2005.

5. American Academy of Pediatrics, Susan R. Rose, MD and the Section on Endocrinology and Committee on Genetics, American Thyroid Association, Rosalind S. Brown, MD and the Public Health Committee, Lawson Wilkins Pediatric Endocrine Society. Update of Newborn Screening and Therapy for Congenital Hypothyroidism. Pediatrics 117 (6): 2290-2303, 2006.

6. Moeschler, J.B.; Shevell, M and the Committee on Genetics. Clinical Genetic Evaluation of the Child With Mental Retardation or Developmental Delays. Pediatrics 117 (6):2304-2316, 2006.

7. Kishnani, P.S.; Hwu W.L.; Mandel, H.; Nicolino, M.; Yong, F.; Corzo, D.; and the Infantile-Onset Pompe

16

Disease Natural History Study Group. A Retrospective, Multinational, Multicenter Study on the Natural History of Infantile-onset Pompe Disease. J Pediatr. 148(5):671-676, 2006.

8. Schaefer, G.B.; Mendelsohn, N.J. and the Professional Practice and Guidelines Committee of the American College of Medical Genetics. Clinical Genetics Evaluation in Identifying the Etiology of Autism Spectrum Disorders Genet. Med. 10(4):301-305, 2008.

9. Hersh, J.H. and the Committee on Genetics of the American Academy of Pediatrics. Health Supervision for Children with Neurofibromatosis. Pediatrics 121(3) 633-642, 2008.

10. Forsha D, Li JS, Smith PB, van der Ploeg AT, Kishnani P, Pasquali SK; Late-Onset Treatment Study Investigators [Clemens, P.; Escolar, D.M.; Leshner, R.T.; Laforet, P.; Pestronk, A.; Wasserstein, M.; van der Ploeg, A.; Rosenbloom, B.; Culper, E.; Mengel, E.; Hopkin, R.; Casey, R.; Charrow, J.; Sillence, D.; Lemieux, B.; Sims, K.; Scott, C.R.; Durieu, I.; Furby, A.; Zagnoli, F.; Barohn, R.; Nations, S.; Pyeritz, R.; Edgar, T.; Barship, B.; Olsen, M.; Tita, J.; Schaefer, G.B. and Aleck, K.]: Cardiovascular Abnormalities in Late-onset Pompe Disease and Response to Enzyme Replacement therapy. Genet. Med. 13(7):625-631, 2011.

11. Schaefer, G.B.; Mendelsohn, N.J. and the Professional Practice and Guidelines Committee of the American College of Medical Genetics. Clinical Genetics Evaluation in Identifying the Etiology of Autism Spectrum Disorders – Guidelines Update. Genet. Med. 15(5):399-407, 2013.

12. Schaefer, G.B.; Larson, I.; Bolick, J.; Williamson-Dean, L. and the Medical Home Workgroup of the Heartland Regional Genetics and Newborn Screening Collaborative: What is the Role of Clinical Genetics in the Patient-Centered Medical Home? Genet. Med. [Epub ahead of print] doi:10.1038/gim.2015.113.

ARTICLES SUBMITTED 1. Zarate, Y.A.; Jones, J.R.; Jones, M.A.; Millan, F.; Juusola, J.; Vertino-Bell, A.; Schaefer, G.B. and Kruer,

M.C.: Lessons From the First Pair of Siblings with BPAN. (Eur. J. Hum. Genet.) ARTICLES IN PREPARATION 1. Sellars, E.A.; Sullivan, B.R. and Schaefer, G.B.: Whole Exome Sequencing Reveals EP300 mutation in a

Mildly Affected Female. 2. Tanaka, A.J.; Cho, M.T.; Retterer, K.; Jones, J.; Nowak, C.; Douglas, J.; Jiang, Y-H; McConkie-Rosell,

A.; Schaefer, G.B.; Kaylor, J.; Telegrafi, A.; Friedman, B.; Douglas, G.; Monaghan, K.G. and Chung, W.K.: De novo Pathogenic Variants in CHAMP1 Are Associated With Global Developmental Delay, Intellectual Disability, and Dysmorphic Facial Features.

3. Schaefer, G.B; Olney, A.H. and Pierpont, M.E.: Pierpont Syndrome - Expansion of the Phenotype. 4. Schaefer, G.B.; Ward, D.I. and Matalon, R.: Lipids and Lipoproteins in Pregnant Patients with

Phenylketonuria. BOOKS 1. Schaefer, G.B. and Thompson, J.N. (Authors). Medical Genetics: An Integrated Approach. McGraw- Hill. ISBN-10: 0071702067 | ISBN-13: 978-0071702065. January 2014.

Reviewed: Clericuzio, C.L.: Am. J. Med. Genet. A. 167A:460, 2015. • Translated into Portuguese.

BOOK CHAPTERS 1. Schaefer, G.B.;Kleimola, C.N.;Stenson, C.; Daley, S.E.; Farmer, P. And Holladay, K.: Wolf -Hirschhorn

Syndrome (Deletion 4p): A Guidebook for Families University of Nebraska Press, Omaha, 1996. 2. Reiser, G.M. and Schaefer, G.B.: Cancer Genetics. A Guide for Counseling Families. University of

Nebraska Press, Omaha, 1996.

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3. Pelletier, S.L.F.; Schaefer, G.B. and Young, M.: Chapter 74: Pierre Robin Sequence. In L. Phelps (Ed.) A Guidebook for Understanding and Educating Health Related Disorders in Children and Adolescents. A Compilation of 96 Rare and Common Disorders : American Psychological Association, Washington, D.C. , 1998.

4. Anderson, R.R.; Buehler, B.A. and Schaefer, G.B.: • Sotos Syndrome : A Handbook for Families (Second Edition). University of Nebraska Press,

Omaha, NE. 2000. (Translated into German, Swedish, French and Spanish versions) • Sotos Syndrome : A Handbook for Families (Third Edition). University of Nebraska Press,

Omaha, NE. 2005. (Translated into German, Swedish, French and Spanish versions) 5. Paulman, P. and Schaefer, G.B. : Chapter 51 : Clinical Genetics. In Textbook of Family Practice (Sixth

Edition), Rakel, R. E. (Ed.). WB Saunders, 2001. 6. Bodensteiner, J.B.; Ellis, C.R. and Schaefer, G.B.:

• Chapter 44, Mental Retardation. In Current Management in Child Neurology, Second Edition. Maria, B.L. (Ed). BC Decker, Inc. London, pp 261 - 272, 2002.

• Chapter 46, Mental Retardation. In Current Management in Child Neurology, Third Edition. Maria, B.L. (Ed). BC Decker, Inc. London, pp 285 - 296, 2005.

• Chapter 46, Mental Retardation. In Current Management in Child Neurology, Fourth Edition. Maria, B.L. (Ed). BC Decker, Inc. London, pp 346-358, 2009.

7. Schaefer, G.B. and Buehler, B.A. • Chapter 32, Life Care Planning for Children with Genetic Disorders. In Case Management in Life-

Care Planning of Pediatric Patients. First Edition Riddick - Grisham, S. (Ed.) LRC Press, Boca Raton, FL. pp 703 - 718, 2004.

• Chapter 25, Life Care Planning for Children with Genetic Disorders. In Case Management in Life-Care Planning of Pediatric Patients. Second Edition. Riddick - Grisham, S. (Ed.) LRC Press, Boca Raton, FL., pp 697-714, 2011

8. Schaefer, G.B. and Dunston, G. M. : Health Care Disparities in Medical Genetics. In Multicultural Medicine and Health Care Disparities. Satcher, D. and Pamies, R. J. (Eds.) McGraw-Hill. Chapter 28. 471-484, 2005.

ELECTRONIC / MULTIMEDIA PUBLICATIONS 1. Schaefer, G.B. and Housworth, C. : Genetics Pedigree Database. Copyright Schaefer / UNMC, 1998. 2. Schaefer, G.B. : Ehlers - Danlos Syndrome. e-Medicine (Pediatrics). URL

http://www.emedicine.com/ped/topic654.htm. 03/13/2002. 3. Jackson, B. and Schaefer, G.B.: Project LEARN. The Role of Experience on the Developing Brain. CD-

ROM Teaching Modules 1 and 2. University of Nebraska Press, 2002. 4. Starr, L.; Schaefer, G.B. and Silberberg, P.J. : Spondylo-Epiphyseal Dysplasia Congenita. MyPACS.net.

URL http://www.mypacs.net/cgi-bin/repos/mpv3_repo/wrm/repo- view.pl?cx_subject=864496&cx_repo=mpv3_repo&cx_from_folder=. 04/03/2005.

5. Stevens, N.G.; Kahn, N. B.; Weismiller, D.; Lisbon, E. D. and Schaefer, G.B.: Newborn Screening. URL http://www.aafp.org/x37667.xml. American Academy of Family Practice. Annual Clinical Focus on Genomics. 2005.

6. Starr, L.; Schaefer, G.B. and Silberberg, P.J. : Thanatophoric Dysplasia. MyPACS.net. URLhttp://www.mypacs.net/cgi-bin/repos/mpv3_repo/wrm/repo- view.pl?cx_subject=864510&cx_image_only_mode=off&cx_repo=mpv4_repo&cx_from_folder= 03/03/2006

7. Steiner, R.D.; Schaefer, G.B. and Pippen, M.G.: Ehlers - Danlos Syndrome. e-Medicine (Pediatrics). URL http://www.emedicine.com/ped/topic654.htm. 05/24/2006.

8. Kaye, C.I.; Committee on Genetics; Accurso F.; La Franchi, S.; Lane, P.A.; Hope, N.; Sonya, P.; Schaefer, G.B.; and Lloyd-Puryear, M.A.: Newborn Screening Fact Sheets. Pediatrics. 118(3):e934-63 (available at: www.pediatrics.org/cgi/content/full/118/3/1304), 2006.

9. Dean, S. and Schaefer, G.B.: Health Care Transition for Youth with Special Health Care Needs:

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Physicians’ Training Curriculum and Resources (CD modules). Copyright University of Nebraska Medical Center, 2008.

10. Schaefer, GB: Genetics of Early Childhood Hearing Loss – The Facts. The National Center for Medical Home Initiatives for Children with Special Health Care Needs. http://www.medicalhomeinfo.org/downloads/pdfs/GeneticsofEC_HL.pdf , 2008. [Also at http://www.babyhearing.org/Audiologists/factSheets/GeneticsChildhoodHearingLoss.pdf]

11. Schaefer GB, Butler B, Nale D. Telemedicine manual for clinical genetic services: Heartland Genetics and Newborn Screening Collaborative. May be accessed at http://www.heartlandcollaborative.org for electronic download. HRSA Grant U22MC03962: 2010.

12. Schaefer, G.B. and the Arkansas Folic Acid Coalition. Vitamin for Life. http://vitaminforlife.org/ September 2014.

13. Schaefer, G.B.; Larson, I.; Bolick, J.; Williamson-Dean, L. and the Medical Home Workgroup of the Heartland Regional Genetics and Newborn Screening Collaborative. What is the Role of Clinical Genetics in the Patient-Centered Medical Home? 2015. http://www.heartlandcollaborative.org/files/2015/01/MedHome-White-Paper-Full-Version-11-14-14.pdf

14. Rundeen, P.K. and Schaefer, G.B.: Competency IV: Biologic Effects of Alcohol on the Fetus. In Fetal Alcohol Spectrum Disorders. Competency-Based Curriculum Development Guide for Medical and Allied Health Education and Practice. Frontier RTC Website, http://www.frfasd.org/Comp_Guide.html , 2015.

BOOK REVIEWS 1. Schaefer, G.B. : The Fragile - X Syndrome: Diagnosis, Biochemistry, and Intervention. Edited by

Hagerman, R.J. and McBogg, P.M. Reviewed in J. Okla. St. Med. Assoc. 80: 455-456, 1987. 2. Schaefer, G.B. : Growth Disorders : The State of the Art. Edited by Cavallo, L. ; Job, J.C. and New, M.

Reviewed in J. Clin. Neurol. 8:193, 1993. 3. Schaefer, G.B. : Oxford Medical Database, version 3.0 (CD-ROM). Reviewed in J Child Neurol 17(10) :

791, 2003. 4. Schaefer, G.B.: Neurocutaneous Disorders. J Child Neurol 22(2) 242 - 243, 2007. PUBLISHED ABSTRACTS 1. Thompson, J.N.; Woodruff, R.C. and Schaefer, G.B.: Lack of Somatic Chromosome Breakage in Male

Recombination Lines. Genetics, 86(2):s64-65, 1977. 2. Schaefer, G.B.; Toney, J.V. and Thompson, J.N.: A Diffusion Model for the Origin of Wing Vein Patterns

in Drosophila melanogaster. Genetics, 88(4):s86-87, 1978. 3. Schaefer, G.B.; Seale, T.W.; Flux, M.E.; Griesmann, G.E.; and Rennert, O.M.: Erythrocyte Polyamine

Pools in Cystic Fibrosis. Ped. Res., 14:580, 1980. 4. Schaefer, G.B.; Seale, T.W.; Farber, B.H.; Flux, M.; Griesmann, G.E. and Rennert, O.M.: Cellular

Polyamine Pools in Blood from Cystic Fibrosis Patients. Proc. of Cystic Fibrosis Club, 21:89, 1980. 5. Schaefer, G.B. and Rennert, O.M.: Treatment of Hepatic Phosphorylase Deficiency with High Protein

Nocturnal Intragastric Nutrition. Clin. Res., 31(5):905A, 1983. 6. Muneer, R.S.; Lawellin, J.K.; Payne-Howell, R.M.; Thompson, L. and Schaefer, G.B.: Clinical Stigmata

of Turner or Noonan Syndromes and a De Novo 20/22 Translocation in a Female. Am. J. Hum. Gen. 37(4):A109, 1985.

7. Schaefer, G.B.; Muneer, R.S.; Payne-Howell, R.M.; Lawellin, J.K. and Einfeldt, S.E.: Noonan Phenotype and a Reciprocal Balanced 11/22 Translocation. Am. J. Hum. Gen. 37(4):A115, 1985.

8. Rennert, O.M.; Muneer, R.S.; Payne-Howell, Lawellin, J.K. and Schaefer, G.B.: Multiple Anomalies Associated with an Apparent 1/14 Familial Translocation. Am. J. Hum. Gen. 37(4) A113, 1985.

9. Schaefer, B.; Steele, M.I.; Grunow, J.E.; Garnica, A.D. and Rennert, O.M.: Phosphorylase Deficiency in a Patient with Fanconi Syndrome. Clin. Res., 34(1):243A, 1986.

10. Schaefer, B.; Bodensteiner, J.; Rennert, O.M.; Thurnau, G.; Walls, J. and Stein, D.: Dominantly Inherited

19

Craniodiaphyseal Dysplasia: A New Craniotubular Dysplasia. Clin. Res., 34(1):243A, 1986. 11. Bodensteiner, J.; Schaefer, B.; Rennert, O.M. and Seely, J.: Isotretinoin Embryopathy: The Timing of

Fetal Exposure and Midline Cerebellar Malformations. Neurology, 36(suppl. 1):190, 1986. 12. Schaefer, G.B.; Bodensteiner, J.B.; Garnica, A.D. and Rennert, O.M.: Clinical Adrenal Insufficiency and

Normal Peroxisomes in Neonatal Adrenoleukodystrophy. Ped. Res. 20(4 part 2):271A, 1986. 13. Schaefer, G.B.; Coffman, M.A.; Stein, S.E.; Garnica, A.D.; Bodensteiner, J.B. and Rennert, O.M.:

Craniometaphyseal Dysplasia: Genetic Implications from a Large Family Pedigree. Clin. Res. 35(1):61A, 1987.

14. Schaefer, G.B.; Garnica, A.D. and Rennert, O.M.: Familial Hypocalciuric Hypercalcemia Suggestive of Hyperparathyroidism: A Report of a Kindred. Clin. Res. 35(1):72A, 1987.

15. Bodensteiner, J.B.; Schaefer, G.B. and Gay, C.: Progressive X-linked Cerebellar Degeneration. Neurology 37(suppl 1):140, 1987.

16. Lynch, J. and Schaefer, B.: Isosexual Precocity in a Patient with Sotos Syndrome. Clin. Res. 36(1):59A, 1988.

17. Schaefer, B.; Garnica, A.; Rennert, O. and Say, B.: A Syndrome of Multiple Epiphyseal Dysplasia, Mental Deficiency, Cataracts, Growth Hormone Deficiency, and Primary Hypothyroidism. Clin. Res. 36(1):60A, 1988.

18. Stein, S.; Schaefer, B.; Pendleton, B.; Bodensteiner, J. and Gumbinas, M.: Evaluation and Therapy for Inherited Hyperostotic Bone Disorders of the Skull. Neurol. 38 (3 suppl.1 ): 206, 1988.

19. Bodensteiner, B.; Schaefer, B.; Thompson, J.; Hamza, M.; Marks, M.; Gay, C. and Wilson, D.: Clinical And Morphometric Analysis of the Hypoplastic Corpus Callosum. Ann. Neuro. 24(2):355, 1988.

20. Lutz, R.; Schaefer, B.; Garnica, A. and Rennert, O.: Precocious Adrenarche in a Patient With 11Β-OHase Deficiency. Ped. Res. 23(4 pt 2.): 281, 1988.

21. Schaefer, B.; Garnica, A.; Reyes de la Rocha, S.; Clark, K. and Semenza, G.: Tracheal Cartilage Agenesis in Morquio Syndrome. Am. J. Hum. Gen. 43(3):A69, 1988.

22. Garnica, A.; Muneer, R.; Kamat, S. and Schaefer, B.: Another Case of Unusual X/Y Translocation, Short Stature, and Normal Reproduction. Am. J. Hum. Gen. 43(3):A107, 1988.

23. Hopcus, D.; Muneer, R.; Thompson, L.; Kamat, S.; Boyd, C.; Rennert, O.; Schaefer, B. and Garnica, A.: Chromosome Abnormalities Associated With Prader - Willi Syndrome. Am. J. Hum. Gen. 43(3):A109, 1988.

24. Schaefer, G.B. and Blackett, P.B.: Growth Hormone Influences Upon Apolipoprotein Metabolism. Clin. Res. 37(1):50A, 1989.

25. Coulter, C.L.; Leech, R.L.; Brumback, R.A.; Johnson, S.F.; Altshuler, G.P. and Schaefer, G.B.: Central Nervous System Abnormalities in Thanatophoric Dysplasia. Neurology 39(suppl 1):189, 1989.

26. Stratton, R.; Govaerts, K.; Wilson D. and Schaefer, G.B.: Apolipoprotein Changes with a Formal Exercise Program in Insulin-Dependent Adolescents. Diabetes 38(suppl 2):213A, 1989.

27. Schaefer, G.B.; Domek, D.B.; Muneer, R.S.; Johnson, S.F. and Morgan, M.A.: Tetrasomy 9p: Prenatal Diagnosis and Delineation of the Phenotype. Am. J. Hum. Gen. 45(4):A90, 1989.

28. Lynch, J.L.; Schaefer, G.B.; Venkataraman, P.; and Garnica, A.D.: Parathyroid Hormone Responsiveness to 1,25 (OH)2 Vitamin D3 in Pseudohypoparathyroidism Type I. Ped. Res. 25:201A, 1989.

29. Gingold, M.; Bodensteiner, J.B.; Schaefer, G.B.; Thompson, J.N.; Tucker, R.R.; and Wilson, D.A.: Normal Relative Areas of the Cerebellar Veris: Lobules I Through V, Compared with VI and VII, and VII. Ann. Neurol. 26(3):454, 1989.

30. Bodensteiner, J.B.; Schaefer, G.B.; Thompson, J.N.; Hamza, M.; Tucker, R.R.; Marks, W.; Gay, C.T.; and Wilson, D.A.: Quantitative Morphometric Analysis of Brain Growth Using Magnetic Resonance Imaging. Ann. Neurol. 26(3):453-454, 1989.

31. Wilson, D.P.; Schaefer, G.B.; Kemp, S.F. and Stratton, R.: Response to Biosynthetic Growth Hormone Therapy in "GH-deficient vs. "Non-deficient" Children. Clin. Res. 38(1):48A, 1990.

32. Blackett, P.R.; McCann, J.P.; Cheng, Q.; Schaefer, G.B. and Wang, C-S.: Growth Hormone Influences on Insulin and Plasma Lipids in Obese Sheep. Clin. Res. 38(1):57A, 1990.

33. Domek, D.B.; Schaefer, G.B. and Garnica, A.D.: Zinc Protamine Glucagon Treatment of

20

Hyperinsulinemia. Clin. Res. 38(1):57A, 1990. 34. Schaefer, G.B.; Blackett, P.R.; Frindik, J.P. and Wilson, D.P.: Short Term and Intermediate Effects of

Growth Hormone Upon Apolipoprotein Status. Clin. Res. 38(1):59A, 1990. 35. Bodensteiner, J.B. and Schaefer, G.B.: The Wide Cavum Septum Pellucidum: A Marker of Disturbed

Brain Development. Neurol. 40:358, 1990. 36. Muneer, R.S.; Schaefer, G.B.; Johnson, S.F. and Thompson, L.: An Unusual Case of Renal-hepatic-

pancreatic Dysplasia in a Karyotypically Normal Female with a Family History of 7;20 translocation. Am. J. Hum. Gen. 47(3 suppl):A36, 1990.

37. Domek, D.B.; Schaefer, G.B.; Garnica, A.D. and Rennert, O.M.: Atypical Phenotypic Expression of X Chromosome Monosomy. Am. J. Hum. Gen. 47(3suppl):A54, 1990.

38. Garnica, A.D.; Muneer, R.S.; Schaefer, G.B.; Domek, D.B. and Hopcus, D.: Tetrasomy 12p Mosaicism (Pallister-Killian Syndrome): Report of Two Additional Female Cases. Am. J. Hum. Gen. 47(3suppl):A89, 1990.

39. Schaefer, G.B.; Ransom, G.A.; Garnica, A.D.; Wilson, D.P. and Seely, J.R.: Increased Incidence of 21-Hydroxylase Deficiency Among the American Indians of Oklahoma. Clin. Res. 38(3):899A, 1990.

40. Coulter, C.L.; Leech, R.W.; Schaefer, G.B.; Scheithauer, B.W. and Brumback, R.A.: Neuropathological Study of Septo-optic Dysplasia with Dysfunction of the Hypothalamic-Pituitary Axis. Ann. Neurol. 28(2):279, 1990.

41. Domek, D.B.; Garnica, A.D.; Schaefer, G.B.; Muneer, R.S. and Rennert, O.M.: Atypical Expression of X Chromosome Monosomy. Clin. Res. 38(4):972A, 1990.

42. Schaefer, G.B.; Godfrey, M. and Hollister, D.W.: Quantitation of Microfibrillar Immunofluorescence in the Marfan Syndrome. Clin. Res. 39(1):97A, 1991.

43. Schaefer, G.B.; Bodensteiner, J.B.; and Thompson, J.T.: Subtle Markers of Cerebral Dysgenesis. Proceedings of the 23rd Annual March of Dimes Clinical Conference 109, 1991.

44. McComb, R.; Schaefer, G.B.; and Olney, A.H.: Cerebro-Cerebellar Lissencephaly, Congenital Heart Defects and Other Congenital Anomalies in Male Sibs. Proceedings of the 23rd Annual March of Dimes Clinical Conference P-53, 1991.

45. Olney, A.H.; Schaefer, G.B.; Tamayo, M.; and Frias, J.: Clinical and Morphometric Characterization of the Corpus Callosum in the Opitz BBB/G Compound Syndrome. Proceedings of the 23rd Annual March of Dimes Clinical Conference P-58, 1991.

46. Schaefer, G.B.; McConnell, J.; Bruneteau, R.; Olney, A.H.; Frias, J.; and Tiller, G.: Brain Findings in Acrocephalosyndactylies: Clinical and Morphometric Analysis. Proceedings of the 23rd Annual March of Dimes Clinical Conference P-69, 1991.

47. Muneer, R.; Domek, D.B.; Bates, F.; Thompson, L.; Garnica, A.D.; and Schaefer, G.B.: Nesidioblastosis with Partial Trisomy 10p. Proceedings of the 23rd Annual March of Dimes Clinical Conference P-69, 1991.

48. Gorby, G.L. and Schaefer, G.B.: Computerized Image Analysis of Human Fallopian Tube Tissue. Proceedings of the 9th International Meeting of the International Society for STD Research 87, 1991.

49. Domek, D.B.; Schaefer, G.B.; Blackett, P.B. and Garnica A.D.: Inherited Adrenal Insufficiency and Partial Glucocorticoid Resistance. Proceedings of the 73rd Annual Meeting of the Endocrine Society 258, 1991.

50. Godfrey, M.; Baxter, B.T.; Lee, B.; Schaefer, G.B.; Rao, V.H.; Ramirez, F. and Hollister, D.W.: Immunohistochemical Analyses of Microfibrils. Am. J. Hum. Genet. 49(4 suppl):97, 1991.

51. Schaefer, G.B.; Kimberling, B.; Thompson, J.N.; Behm, G. and McConnell, J.: Computerized Image Analysis of Brain Morphometry in Usher Syndrome. Am. J. Hum. Genet. 49(4 suppl):162, 1991.

52. Anderson, R.; Coccia, P.; Houser, M.; Shaw, B. and Schaefer, G.B.: Genetic Counseling Considerations in Transplantation. Proceedings of "Dilemmas in Organ Transplantation" 36, 1991.

53. Frias, J.L.; Schaefer, G.B.; Gray, B. and Williams, C.A.: Morphometric Analysis of Facial Features in Patients with Angelman Syndrome. Proceedings and Abstracts of the International Conference on Prader-Willi and Angelman Syndromes Spain, 1991.

54. Schaefer, G.B. and Buehler, B.A.: Neuroanatomic Features of Sotos Syndrome. Proceedings of the

21

13th Annual David W. Smith Workshop on Malformations and Morphogenesis , p 36, 1992. 55. Liu, X.D.; Gottberg, W.P.; Schaefer, G.B.; Fordyce-Boyer, R.; Kuhl, L.D. and Sanger, W.G.: Shorter

Colcemid Exposure Time Increases Chromosome Band Level in "In Situ" Amnio Harvest. Applied Cytogenet. 18(4):137, 1992.

56. Bodensteiner, J.B.; Schaefer, G.B.; Breeding, L.; and Cowan, L.: Hypoplasia of the Corpus Callosum: A Study of 445 Consecutive MRI Scans. Ann. Neurol. 32:473, 1992.

57. Sanger, W.G. and Schaefer, G.B.: Update on Genetic Screening for Therapeutic Donor Insemination. Proceedings of the 16th Annual Meeting of the American Tissue Banks, 1992.

58. Pickering, D.; Zaleski, D.; Nelson, M.; Huston, S. Schaefer, G.B. and Sanger, W.G.: Probable i (Yp) in a Postpubertal Male. Proceedings of the 7th Annual Great Plains Genetics Society Network Cytogenetics Workshop. 1992.

59. Schaefer, G.B., Thompson, J.N. and McConnell, J.M.: Quantitative Morphometry of Brain MRI Scans in Children Before and After Cardiac Surgery. Proceedings of the 2nd International Conference on The Brain and Cardiac Surgery. 1992.

60. Schaefer, G.B.; Thompson, J.N.; McConnell, J.M.; Kimberling, W.J.; and Gay, C.T.: The Cerebellar Vermis in Autism and Autistic Behavior. Am. J. Hum. Gen. 51(4):A107, 1992.

61. MacDonald, M.R. and Schaefer, G.B.: Computerized Brain Morphometry in Neurofibromatosis Type I. Proceedings of the 9th Annual NNFF Clinical Care Symposium, 1992.

62. Schaefer, G.B.; Frias, J.L.; Rosenbloom, A.L.: Facial Morphometry of a Growth Hormone Receptor Deficiency Syndrome in an Ecudoran Population. Clin. Res. 41(1):71A, 1993.

63. Muenke, M.; Gurrieri, F.; Yi, D.; Bay, C.; Collins, A.L.; Johnson, V.P.; Hennekam, R.C.M.; Schaefer, G.B.; Weik, J.; Lubinsky, M.L.; Daack-Hirsh, S.; Moore, C.A.; Dobyns, W.B.; Murray, J.C.; and Price, R.A.: Linkage of familial Holoprosencephaly to Chromosome 7q36: Clinical and Molecular Studies. Am. J. Hum. Gen. 53(3):1048, 1993.

64. DeBoer, J.; Gutkin, T.; Seemayer, T.; Schaefer, G.B.; Bridge, J.: In-situ Hybridization of Gonadal Tissue from Sex Chromosome Aneuploid Individuals. Clin. Res. 42: 373A, 1994

65. Olney, A.; Keller, G., Schaefer, G.B.: Neuroanatomic Findings in Twins and Singletons with Beckwith-Wiedeman Syndrome. Proceedings of the 15th Annual David W. Smith Workshop on Malformations and Morphogenesis , p 114, 1994.

66. Rao, V.H., Bridge, J.A., Neff, J.R., Schaefer, G.B., Vishwanatha, J.K., Wei, S., Jackson, J., Sawaya, R. And Rao, J.S.: Production of Gelatinases by Giant Cell Tumor of Bone (GCT) in Vivo and in Vitro. Proceedings of the 86th Annual Meeting of American Association for Cancer Research. March 18-22, Toronto, Canada, 1995. 36:97, 1995

67. Novak, K.; Schaefer G.B.; Steele, D.; Smith, S.; Buehler, B.; Pickering, D.; Zaleski, D.; Sanger, W.: Familial Inverted Duplication of 7p. Applied Cytotech. 20(3):101, 1994.

68. Bodensteiner, J.B.; Schaefer, G.B.; White, J.T.; Pettorini, J.M. and McConnell, J.R. : A Prospective Study of the Effect of Open Heart Surgery on Cerebral and Ventricular Volume. Ann. Neurol. 40(2):338, 1996.

69. Schaefer, G.B.; Bodensteiner, J.B.; Buehler, B.A., Lin, A and Cole, T.R.P. : The Neuroimaging Features of Sotos Syndrome. Ann. Neurol. 40(2):312, 1996.

70. Beiraghi, S.; Safari, M. and Schaefer, G.B.: 4p- Wolf Hirschhorn Syndrome with Multiple Odontogenic Keratocyst. Am. J. Hum. Genet. 59(4):A348, 1996.

71. Olney, A.H.; MacDonald, M.R.; Schaefer, G.B. and Sanger, W.G.: Atypical presentations of patients with 22q microdeletions. Proceedings of the 3rd Joint Clinical Genetics Meetings. A72, 1996.

72. Rao, V. H., Schaefer, G. B., Bridge, J. A., Neff, J. R., Sanger, W. G., Delimont, D., and Buehler, B. A.: Stromal cells of human giant cell tumor of bone (GCT) produce 92 kDa type IV collagenase/gelatinase B (MMP-9). Proceedings of the 1996 Nebraska Symposium on Cancer and Smoking Related Diseases, 1996.

73. Beiraghi, S.; Schaefer, G.B.; Kimberling, W. And Godfrey, M.: Stickler Syndrome and Genetic Heterogeneity. Proceedings of the 4th Joint Clinical Genetics Meetings . A49, 1997.

74. Welsh, M.S.; Sanger, W.G.; Berg, T.G.; MacDonald, M.R.; Schaefer, G.B. and Huston, S.S.: Multiple-Marker Positive Results in Mosaic Trisomy 9. Proceedings of the 4th Joint Clinical Genetics Meetings . A89, 1997.

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75. Houfek, J.H.; Reiser, G.M.; Atwood, J. and Schaefer, G.B.: Psychosocial Impact of Genetic Testing For Breast Cancer. Proceedings of the 21rst Annual Midwest Nursing Research Society. p 255, 1997.

76. Rao, V.H.; Singh, R.K.; Bridge, J.A.; Neff, J.R.; Schaefer, G.B.; Delimont, D.C.; Dunn, C.M.; Sanger, W.G. and Buehler, B.A.:Regulation of MMP-9 (92kDa type IV Collagenase/Gelatinase B) Expression in Stromal Cells of Human Giant Cell Tumor of Bone. Proceedings of the American Association for Cancer Research (38):406, 1997.

77. Beiraghi, S.; Safari, S.; Schaefer, G.B.; Kimberling, W. And Godfrey, M.: Mutation of Collagen Type II, IX, XI and Stickler Syndrome. Proceedings of the International Association of Dental Research., 1997.

78. Beiraghi, S.; MacDonald, M.R.; Schaefer, G.B. and Olney, A.H.: Bilateral Cleft Lip and Palate, Agenesis of the Corpus Callosum, and Multiple Congenital Anomalies: A Possible New Syndrome. Proceedings of the 54th Annual Meeting of the American Cleft Plate-Craniofacial Association. p66, 1997.

79. Beiraghi, S.; Safari, S.; Schaefer, G.B.; Kimberling, W. And Godfrey, M. Stickler Syndrome : Genetic Heterogeneity and Exclusion of COLXI A2 COL2A as a Candidate Gene. Proceedings of the 54th Annual Meeting of the American Cleft Plate-Craniofacial Association. p66, 1997.

80. Beiraghi, S.; MacDonald, M.; Schaefer, G. B. and Olney, A.: Bilateral Cleft Lip and Palate, Agenesis of the Corpus Callosum, Multiple Congenital Anomalies : A Possible New Syndrome. Am. J. Hum. Genet. 61(4 suppl):A367, 1997.

81. Bodensteiner, J.B.; Schaefer, G.B. and Craft, J.M. : Cavum Septi Pellucidi and Cavum Vergae in Normal and Developmentally Delayed Populations. Ann. Neurol. 42 : 506, 1997.

82. Rao, V.H.; Singh, R.K.; Schaefer, G.B.; Delimont, D.C.; Bridge, J.A.; Neff, J.R.; Garvin, B.P.; Sanger, W.G. and Buehler, B. A.: Induction of MMP-9 Expression in Stromal Cells of Giant Cell Tumor of Bone by Tumor Necrosis Factor - %. Proceedings of the 50th Annual Symposium on Fundamental Cancer Research : Molecular Determinants of Cancer Metastasis. p168, 1997.

83. Pivnik, E.K.; Schaefer, G.B.; Lin, A.E. Park, V.M.; Tolley, E.A.; Lawrence, M.D. and Huson, S. M. : Delineation of a Common Facial Appearance in Neurofibromatosis Type 1 (NF1). Am. J. Hum. Genet. 61(4suppl):A110, 1997.

84. Olney, A.H.; MacDonald, M.R.; Schaefer, G.B.; Becker, T. and Toriello, H.: Neonatal Progeroid Syndrome with Features Overlapping Wiedemann-Rautenstrauch Syndrome and De Barsy Syndrome. Proceedings of the 18th Annual D.W. Smith Workshop on Malformations and Morphogenesis. p26, 1997 and The Proceedings of the Greenwood Genetics Center 17:102, 1998.

85. Rao, V.H., Singh, R.K., Delimont, D.C. Bridge, J.A., Neff, J.R., Pickering, D.L., Sanger, W.G., Buehler, B.A. and Schaefer, G.B.: Interleukin-1β upregulates the expression of gelatinase B (92 kDa type IV collagenase) in giant cell tumor of bone. Proceedings of the 89th Annual Meeting of the American Association for Cancer Research .

March 28-April 1, New Orleans, LA. 39:296, 1998 86. Schaefer, G.B.; Beiraghi, S.; Cooper, S.; Corley, K. and Hassing, J.: Facial Morphometry in Children with

Growth Hormone Deficiency. Proceedings of the 55th Annual American Cleft Palate - Craniofacial Association Meeting April 20 -25, Baltimore, MD p73, #151, 1998.

87. Brown, T.W.; Wisnewski, K.E.; Sudhalter, V.; Keogh, M.; Tsiouris, J.; Miezejeski, C. and Schaefer, G. B.: Identical Twins Discordant for Sotos Syndrome. Proceedings of the 5th Joint Clinical Genetics Meetings . A10, 1998.

88. McConnell, J.R.; Gordon, B.G.; Coccia, P.F.; Gross, T.G. and Schaefer, G.B.: Brain Magnetic Resonance Spectroscopy Before and After Bone Marrow Transplantation. Proceedings of the 5th International Conference on the Long-Term Complications of Treatment of Children and Adolescents for Cancer, Roswell Park Cancer Institute, Niagra-on-the -Lake, Ontario, CA. June 19-20, 1998.

89. Zaleski, D.H.; Schaefer, G.B. and Sanger, W.G.: FISH Reveals Presence of Yp Material in 46 XX Male. J. Assoc. Genetic Technologists 24(4)147, 1998.

90. Ashraf, R.; Kadri, N.N.; Hee, T.T. ; Schaefer, G.B. and Mohidduin, S.M. : Difficult to Control Neurally Mediated Syncope : Is it Familial? J. Am. Col. Cardiol. (Proceedings of the 47th Annual Scientific Session of the American College of Cardiology), 133A, 1998.

91. Houfek, J.F.; Atwood, J.R.; Schaefer, G.B. and Reiser, G.M. : High Risk Perceptions of Breast Cancer Risk. Proceedings of the Am. Soc. Prev. Oncol. (Poster). Abstract #38. Houston, TX, March 15, 1999.

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92. Houfek, J.F.; Atwood, J.A.; Reiser, G.M.; Rennard, S.I.; Schaefer, G.B.; Daughton, D.M. and Ertl, R.F. : Genetic Counseling for Smoking : Psychosocial Impact. Proceedings of the Annual Meeting of the International Society of Nurses in Genetics (ISONG), May 1999.

93. Streeby, D. R.; Beiraghi, S. and Schaefer, G.B.: Facial Morphometry with Van der Woude Syndrome. Annual Meeting of the American Academy of Dentistry Toronto Canada, September 7, 1999.

94. Reiser, G.M.; Houfek, J.; Schaefer, G.; Atwood, J. and Rennard, S.: Smokers Knowledge and Attitudes About a Genetic Basis for Smoking. Journal of Genetic Counseling 8(6):406, 1999.

95. Anderson, R.A. and Schaefer, G.B. : A Retrospective Review of Neurobehavioral and Psychosocial Issues in Adults with Putative Sotos Syndrome. Genetics in Medicine 2(1):64, 2000.

96. Houfek, J.F.; Atwood, J. R.; Reiser, G.M.; Rennard, S.I. and Schaefer, G.B. : Smoker's Perception of a Genetic Basis for Smoking. Proceedings of the 24th Annual Research Conference of the Midwest Nursing Research Society , Abstract #201, p145. Presented in Dearborn MI, April 3, 2000.

97. Houfek, J.F.; Atwood, J. R.; Schaefer, G.B. and Reiser, G.M. : Women's Use of Coping Strategies while Waiting for Genetic Testing Results. Presented at the American Society of Preventative Oncology, Abstract # 48. Bethesda MD, March 6, 2000.

98. Houfek, J.F.; Atwood, J.R. and Schaefer, G.B.: Genetic Testing for Cancer Risk: Psychosocial Impact. Science in Service to the Nation's Health: Scientific Poster Session. Friends of the National Institute of Nursing Research, Washington, D.C. Invited poster. September 19, 2000.

99. Beiraghi, S.; Chan, C.M.; Jensen, S.A. and Schaefer, G.B. : Orofacial Clefts and Associated Congenital Malformations. Am. J. Hum. Genet. 67(4):129 (#661), 2000.

100. Rao, V.H.; Singh, R.K.; Bridge, J.A.; Neff, J.R.; Sanger, W.G.; Buehler, B.A. and Finnell, R.H.: Interleukin-1 Induced Expression of MMP-9 is Down-Regulated by Cyclic AMP Activation in Stromal Cells of Human Giant Cell Tumor of Bone . Presented at the 91rst Annual Meeting of the AACR, San Francisco, April 1-5, 2000. Proceedings of the American Association of Cancer Research, 41:135 (#856) , 2000.

101. Marks, J.; Beiraghi, S.; Larsen, P. and Schaefer, G.B.; Quantitative Analysis of the Effects of Myelomeningocoele on Intracranial Structures. Presented at the 53rd Annual Meeting of the American Academy of Pediatric Dentistry, Nashville, TN, 2000.

102. Reiser, G.; Houfek, J.; Schaefer, G. Atwood, J.R.; and Rennard, S.I. : Impact of Genetic Counseling Intervention in Smoker’s Perceptions of the Genetics of Smoking. J. Genet. Counsel. 9(6):499-500, 2000.

103. Houfek, J.F.; Atwood, J.R.; Reiser, G.M.; Rennard, S.I. and Schaefer, G.B. : Individual’s Perceptions of Genetics, Illness, and Genetic Services. Proceedings of the International Society of Nurses in Genetics Annual Meeting. SanDiego, CA. October 2001.

104. Houfek, J.F.; Atwood, J.R.; Reiser, G.M.; and Schaefer, G.B. : Effects of Education on Perceptions of a Genetic Contribution to Smoking. Proceedings of the American Society of Preventative Oncology , abstract # 97, 2001.

105. Houfek, J.F.; Atwood, J.R.; Reiser, G.M.; Rennard, S.I. and Schaefer, G.B. : Knowledge and Belief’s About Genetic Contributions to Smoking. . Proceedings of the International Society of Nurses in Genetics Annual Meeting. Baltimore, MD October 2002.

106. Reiser, G.; Christiansen, K. Lemon, S. and Schaefer, G.: Genetic Counselor’s Role in an Employee-Based Breast Cancer Screening Program. J. Genet. Counsel. 12(6):484-485, 2003.

107. Raca, G.; Waggoner, D.J.; Kamimura, J.; Matsumoto, N.; Schaefer, G.B.; Welch, K.O.; Martin, C. L. and Das, S. : Mutation Analysis of the NSD1 Gene - Genetic Testing For Sotos Syndrome. Am. J. Human Genet. 73(5):582, 2003.

108. Birch, N.C. and Schaefer, G.B. : Protein Losing Enteropathy, Gastrointestinal Bleeding, and Poliosis as an Unusual Manifestation of Monosomy X Mosaicism. American College of Physicians, Nebraska Chapter Scientific Meeting, Omaha, NE. Abstract #8. Oct 16-17, 2003.

109. Segal, D. G.; Hirsch-Pescovitz, O.; Schaefer, G.B. and DiMeglio, L.A. : Craniofacial and Acral Growth Responses to GH Treatment in GHD Children. Pediatric Research. 52 (Supplement):836(A), 2003.

110. Ball, L.J.; Sullivan, M.D.; Stading, K.; Dulany, S.; And Schaefer, G.B. : Speech and Language Characteristics of Persons with Sotos Syndrome. American Speech-Language-Hearing Association Annual Convention Poster Presentation, Chicago, IL 13 Nov. 2003.

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111. Kishnani, P.; Nicolino, M.; Voit, T.; Tsai, C.; Herman, G.; Waterson, J.; Rogers, R.C.; Levine, J. Amalfitano, A.; Charrow, J.; Tiller, G.; Schaefer, B.; Kolodny, E.; Corzo, D. and Chen, Y.T.: Enzyme Replacement Therapy (ERT) for Infantile onset Pompe Disease: Long Term Follow Up Results. Proceedings of the Annual Meeting of the American College of Medical Genetics. Abstract # 46, A25, Orlando, FL. March 5, 2004.

112. Olney, A.H.; Schaefer, G.B. and Burson, C. : Macrocepahly-Cutis Mamorata Telangiectasia Congenital Following Assisted Reproductive Technology. Proceedings of the 25th Annual Workshop on Malformations & Morphogenesis, p36, 2004

113. Higgins, C.; Schaefer, G.B.; VanDyke, Z.; Hempel, T.; Pickering, D.; Nelson, M.; Sanger, W.G. and Dave, B.J.: Implications of dup(8)(224.1qter) and / or del (15)(q26.1qter) in Fryns Syndrome. Proceedings of the 54th Annual Meeting of the Am. Soc. Hum. Genet. ,Toronto, CA pg 152, Abstract #744, October 26 - 30, 2004.

114. Coufal, K.A.; Schaefer, G.B.; Zaleski, D.; Kanev, I.; Johnson, V.; Dave, B.J. and Sanger, W.G. : A De Novo Duplication of 12q23.1 - 12q24.31. Proceedings of the 29th Annual Assoc. Genet. Technol., Anaheim, Ca, June 17 - 20, 2004.

115. Schaefer, G.B. and Lutz, R.: Clinical Genetic Evaluation of the Etiology of Autism Spectrum Disorder. Proceedings of the Am. Col. Med. Genet. / 36th Annual March of Dimes Meeting. Abstract # 18, Dallas, TX. 03/20/2005.

116. Waggoner, D.; Welch, K.; Raca, G.; Schaefer, G.B. and Das, S.: Sotos Syndrome : A Clinical Laboratory Perspective and Indications for Testing NSD1.Proceedings of the Am.Col. Med. Genet. / 36th Annual March of Dimes Meeting. Abstract # 20, Dallas, TX. 03/20/2005.

117. Olney, A.H.; Schaefer, G.B.; Nielsen, S.; Garnica, A.D.; Kelley, R.I. ; Shackleton, C. and Arlt, W.: Antley-Bixler Syndrome with Congenital Adrenal Hyperplasia Due to Abnormal Steroidogenesis. Proceedings of the Am. Col. Med. Genet. / 36th Annual March of Dimes Meeting. Abstract # 109, Dallas, TX. 03/20/2005.

118. Conover, E.; Schaefer, G.B.; Dodendorf, D.; Butler, B.; Collins, D.; Hassad, S.; Barringer, S.; Jackson, S and Mulvihill, J.: The Mid America Genetic Counseling Education Consortium: A Strategy for Training and Retaining Genetic Counselors in an Underserved Area. Proceedings of the Am. Col. Med. Genet. / 36th Annual March of Dimes Meeting. Abstract # 176, Dallas, TX. 03/20/2005.

119. Nelson, M.; Pickering, D.; Golden, D.; Olney, A. H.; Schaefer, G.B.; Dave, B. J. and Sanger, W.G.: Imbalances Within Regions Containing Large-Scale Copy Number Variations in individuals with Developmental Abnormalities : When Does Normal Become Abnormal? Proceedings of the 30th Annual Assoc. Genet. Technol . Kansas City, MO. June, 2005

120. Krebs, K.; Pickering, D.; Zaleski, D.; Hempel, T.; Nielsen, S.; Schaefer, G.B.; Sanger, W.G. and Dave, B.J.: Duplication of Xp22.3 Detected by CGH-Microarray Investigation. Proceedings of the Annual AGT Meeting. Baltimore, MD, June 1-4, 2006.

121. Higgins, C.; Pickering, D.; Wiggins, M.; Zaleski, D.; Haskins - Olney, A.H; Schaefer, G.B.; Dave, B.J. and Sanger, W.G. Array-CGH Further Defines Constitutional Supernumary Marker Chromosomes (SMCs). Proceedings of the American Society of Human Genetics. New Orleans LA, Oct 9, 2006.

122. Schneider, A.; Ball, L.; Sullivan, M. and Schaefer, G.B.: Sotos Syndrome and Stuttering : A Survey. Proceedings of the Nebraska Speech-Language- Hearing Association. Kearney NE. September 27, 2006.

123. Butler, B.; Barringer, S.; Jackson, S.; Collins, D.; Hassed, S.; Conover, B. and Schaefer, G.B. : Mid-America Genetic Education Consortium: It’s MAGEC!, Presented as a poster at National Society of Genetic Counselors (NSGC), Nashville, TN, November 10-14, 2006. J. Genet Couns. 2006.

124. Wiggins, M., Pickering. D., Zaleski, D., Kanev, I., Nielsen, S., Schaefer, G.B., Dave, B.J., and Sanger, W.G. Combined Use of Cytogenetics, FISH, and Array-CGH in Detection of Interstitial Deletion. Proceedings of the 56th Annual American Society of Human Genetics Meeting, New Orleans, LA, October 9-13, 2006, ASHG Abstracts 847C, pg 170, 2006.

125. Bendure, W.B. and Schaefer, G.B.: Regional Evaluation of Telemedicine use and Availability for Clinical Genetic Services. Presented at the American Telemedicine Association Meeting, Nashville, TN. May 14, 2007. Telemedicine and e-Health 13(2):209, 2007.

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126. Messiaen, L.; Callens, T.; Williams, J.B.; Babovic-Vuksanovic, D.; Huson, S.; Legius, E.; Mac Gardner, R.; Pascual-Castroviejo, I.; Plotkin, S.; Schaefer, G.B.; Wilson, M. and Korf, B.: Genotype-phenotype correlations in spinal NF. Proceedings of the 57th Annual Meeting of the American Society of Human Genetics. Page 211, abstract # 985. San Diego, CA. October 23 -2 7, 2007.

127. Ahlborg, C.; Wong, M.; Friehe, M.; Ritzman, M.; Ball, L. and Schaefer, G.B.: Pragmatic Profiles Relative to Cognition in Children with Sotos Syndrome. Proceedings of the American Speech-Language-Hearing Association Annual Convention, Boston, MA, November 15-17, 2007.

128. Houfek, J.F.; Atwood, J.R.; Reiser, G.M.; Hertzog, M.A.; Tinley, S.T.; Schaefer, G.B., and Lynch, H.T.: Relationships between mental representations of breast cancer and coping among

women participating in cancer genetics counseling. Proceedings of the International Society of Nurses in Genetics Meeting. Philadelphia, PA. 11/09/2008. 129. Carstens, J.; Pickering, D.; Olney, A.; Schaefer, G.B. and Sanger, W.G.: Evolution of Testing for

Chromosome 15q11-q13 Abnormalities During the Past Decade. Association of Genetic Technologists, Houston, TX, June 12-June 14, 2008. The abstract was also published in The Journal of the Association of Genetic Technologists, Volume 34(3) p 152, 2008.

130. Starr, L.; Sanger, W.G.; Pickering, D.; Skar, G. and Schaefer, G.B. Diagnostic Evaluation of Autism Utilizing Array Comparative Genomic Hybridization in an Unselected Cohort Study Of 69 Patients. Proceedings of the Annual Am. Col. Med. Genet. Abstract # 100, Tampa, FL. 03/25-29/2009.

131. Sanmann, J.; Schaefer, G.B.; Buehler, B.A.; Dave, B. and Sanger, W.G.: Recommended Algorithm for testing of MECP2. Proceedings of the Annual Am. Col. Med. Genet. Abstract # 246, Tampa, FL. 03/25-29/2009.

132. Conover, E. and Schaefer, G.B.: Heartland Multi-State Teratogen Education Project. Proceedings of the Annual Am. Col. Med. Genet. Abstract # 374, Tampa, FL. 03/25-29/2009.

133. Rudeen, K.; Tenkku, L.; Mengel, M.; Bartlet, B.; Schaefer, B.; Everard, K. and Ohlemiller, M. Training Center Prevention Effectiveness for Fetal Alcohol Spectrum Disorders for Health Care Providers in a Midwest Region of the United States. Alcoholism: Clinical and Experimental Research 34(8), 86A, 2010.

134. Starr, L.J.; Sanmann, J.N.; Schaefer, G.B.; Saronwala, A.; Pikering, D.L.; Stevens, J.M. and Sanger, W.G.: Incomplete Penetrance, Partial Expressivity, or Benign Variant: Xp22.31, a Copy Number Variant Commonly Seen in Patients with intellectual Disabilities. Proceedings of the International Autism Symposium, Toronto, ON, CA; 11/04/2010.

135. Kuhn, B.R.; DeHaai, K.A.; Sanger, W.G.; Haynatzki, G. and Schaefer, G.B.: Behavioral Presentation of Children with Sotos Syndrome: A Genotype-Phenotype Correlative Study. Proceedings of the Association for Behavioral and Cognitive Therapies San Francisco, CA. November 18-20, 2010

136. Petitto, J.E.; Perry, T.T.; Schaefer, G.B.; Jones, S.M. and Scurlock, A.: Novel Chromodomain Helicase DNA Binding Protein 7 Gene Mutation Associated with CHARGE and Atypical DiGeorge Syndromes. Proceedings of the Annual Meeting of the Southern Society of Pediatric Research. New Orleans February 17 – 19, 2011.

137. Teague-Ross, T.; Lewis, S.; Hall, W. and Schaefer, G.B.: Seeing is Believing: Telemedicine Improves Access to Genetics Consults in a Rural State. Proceedings of the 16th Annual International Meeting and Exposition of the American Telemedicine Association, Tampa, FL, May 1 – 3, 2011.

138. Tenkku, L.E.; Mengel, M.B.; Rudeen, P.K.; Schaefer, G.B.; Ohlemiller, M.; Everard, K. and Barlet, E.: Taking MRFASTC on the Road- Satellite Implementation. Oral Presentation at the SAMHSA Building State Systems Conference, Phoenix, AZ, May 11-13, 2011.

139. Mosley, B.S.; Hobbs, C.; Malik, S.; Morrow, W.; and Schaefer, G.B.: Timing of Diagnosis of Critical Congenital Heart Defects in Arkansas, 2000-2008. Proceedings of the Annual Meeting of the National Birth Defects Prevention Network. Washington, D.C. February 26-29, 2012.

140. Shapley, K.; Nicholson, N.; Bolick, J.; Martin, P. and Schaefer, G.B.: Long Term Follow-up of Children Identified with Hearing Loss by Newborn Screening (NBS). Poster Session. Proceedings of the 11th Annual Early Hearing Detection and Intervention Conference, St. Louis, MO. March 4-6, 2012.

141. Berry, E.; Vuk, J.; Simonson, M.; Collins, N.; Schaefer, G.B. and Danylchuk, N.R.: An Assessment of the BNE Scale for Parents Whose Children Are Seen in Pediatric Genetics. Proceedings of the American College of Medical Genetics Annual Meeting. Charlotte, NC. March 27-31, 2012.

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142. Mulkey, SB; Yap, V.L.; Swearingen, C.J.; Kaiser, J.J.; Riggins, M.S. and Schaefer, G.B.: Follow-Up Volumetric Brain Measurements Associated With Adverse Neurodevelopmental Outcomes in Hypoxic Ischemic Encephalopathy (HIE). Abstract # 754813, Proceedings of the Pediatric Societies’ Annual Meeting. Boston, MA. April 28-May 1, 2012.

143. Mahadevan, M. and Schaefer, B. Changes in Medical Genetics Course Improves Student’s Satisfaction and Trend Towards Improvement In Performance. Proceedings of the Association of Professors in Human and Medical Genetics Annual Meeting Indian Wells, CA, May 2-4, 2012.

144. Starr, L.J.; Lin, A.; Hammel, J.M.; Carter, A.C.; Sanmann, J.N.; Schaefer, G.B.; Buehler, B.A.; Rush, E.T.; Sanger, W.G. and Olney, A.H.; Two New Patients with Myhre Syndrome: Further Delineation of the Phenotype and progressive Cardiac Valvulopathy. Proceedings of the David Smith Dysmorphology Annual Meeting. Lake Lanier Islands, GA. August 8-12, 2012.

145. Aylsworth, A.S.; Lipinski, R.J.; Finnell, R. H.; Botto, L.; Frias, J.; Holmes, L.B.; Keppler-Noreuli, K.M.; Pober, B.R.; Schaefer, G.B.; Scheurle, A.; Stevenson, R.E.; Luben, T.J.; Olshan, A.F.; Herring, A.H. and Sulik, K.K.: Constructing a Timeline of Critical Developmental Stages for Teratogenic Causation of Human Malformations. Proceedings of the David Smith Dysmorphology Annual Meeting. Lake Lanier Islands, GA. August 8-12, 2012.

146. Cetin, N.; Mian, A.; Schaefer, G.B.; and Lorsbach, RB: Case Report of a Patient with Dubowitz Syndrome and Epstein-Barr Virus Related Lymphoproliferative Disease. Proceedings of the Annual Meeting of the Southern Society of Pediatric Pathologists. Baltimore, MD, March 2-3, 2013.

147. Bolick, J.; Moore, T.; Swearingen, C.J.; Nick, T.G. and Schaefer, G.B.: Arkansas Newborn Screening Long-Term Follow-up Cohort Study. Proceedings of the Newborn and Childhood Screening Symposium. Abstract # P-20. Ottawa, Ontario, April 11-12, 2013.

148. Mahadevan, M.; Graham, J. and Schaefer, G.B.: Changes in Medical Genetics Course in Response to LCME Site Visit and Advances in the Teaching/Learning Methods with an Ultimate Goal of Improving Student Satisfaction and Competency / Performance. Proceedings of the Annaul Meeting of the Association of Professors in Human and Medical Genetics. Kiawah Island, SC. April 17-19, 2013.

149. Schaefer, G.B.; Swearingen, C.J.; Nick, T.G.; Moore, T.; and Bolick, J.: Arkansas Newborn Screening Long-Term Follow-up Database Study. Proceedings of the Joint Meeting of the Newborn Screening and Genetic testing Symposium and the International Society for Neonatal Screening. Pages 48-49. Atlanta, GA. May 6-10, 2013.

150. Burnside, R.D.; Spudich, L; Rush, B.; Kubendran, S. and Schaefer, G.B.: Complex Chromosome Rearrangement Identified by Chromosome Analysis and FISH Subsequent to SNP Array Analysis. Proceedings of the Annual Meeting of the Association of Genetic Technologists. Las Vegas, NV. June 6- 8, 2013.

151. Zarate, Y.A.; Bell, C. and Schaefer, G.B.: Radioulnar Synostosis in a Patient with Mandibulofacial Dysostosis with Microcephaly: Further Overlap in the Spliceosome-Related Syndromes. Proceedings of the Annual Meeting of the David W. Smith Workgroup. Abstract #60. Mont-Tremblant, Quebec, Canada. August 9-14, 2013.

152. Olney, A.H. and Schaefer, G.B.: Report of a Second Patient with Pierpont Syndrome. Proceedings of the Upper Mid-West Clinical Genetics Consortium, Minneapolis, MN. September 20, 2013.

153. Makil, E.S.; Schaefer, G.B.; Frazier, E.A. and Collins, R.T.: Low Alkaline Phosphatase as an Indicator of Myocardial Dysfunction in Pediatric Patients. Cong Heart Dis 2013;8(5):492. (Presented at the American Academy of Pediatrics National Conference and Exhibition, Orlando, FL). October 25, 2013.

154. Mosley, B.S.; Hobbs, C.; Malik, S.; Morrow, W.; and Schaefer, G.B.: Prevalence and Timing of Diagnosis of Critical Congenital Heart Defects in Arkansas, USA, 2000-2008. Proceedings of the Annual Meeting of the International Clearinghouse for Birth Defects Surveillance and Research. San Jose Costa Rica. December 2013.

155. Kubendran, S.; Sivamurthy, S.; Saranowala, A. and Schaefer, B.: A Novel Approach in Telegenetic Services – Geneticist, Pediatrician, and Genetic Counselor Team. Proceedings of the Annual Meeting of the American College of Medical Genetics. Oral Presentation. Abstract #31. Nashville, TN. March 25- 29, 2014.

156. Zarate, Y.A.; Lepard, T.; Schaefer, B. and Collins, R.T.: Genetic Abnormalities are Common in Patients

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with Aortic Dilation. Insights from a Large Cohort. Proceedings of the Annual Meeting of the American College of Medical Genetics. Poster #174. Nashville, TN. March 25-29, 2014.

157. Danylchuk, N.R.; Kahler, S.G.; Garnica, A.D. and Schaefer, G.B.: Second Family with Multiple Congenital Anomalies – Hypotonia - Seizures Syndrome 3 Due to Compound Heterozygosity in PIGT: A Case Report. Proceedings of the Annual Meeting of the American College of Medical Genetics. Poster #338. Nashville, TN. March 25-29, 2014.

158. Bosanko, K.K.; Starr, L.; Schaefer, B. and Zarate, Y.: Full Chromosome Aneuploidies and Concurrent Suspected or Confirmed Genetic Diagnoses. Proceedings of the Annual Meeting of the American College of Medical Genetics. Poster # 117. Nashville, TN. March 25-29, 2014.

159. Bolick , J.; Moore, T.; Melguizo, M.S.; Stalnaker, J.; Luo, C.; Swearinger, C. J.; Nick, T.G. and Schaefer, G.B.: Arkansas Newborn Screening Long-Term Follow-up Cohort Study – Year 2. Poster #51 was Proceedings of the Association of Public Health Laboratory (APHL) Newborn Screening and Genetic Testing Symposium. Anaheim, California. October 27-30, 2014.

160. Martin, P.; Rigsby, J. and Schaefer, G.: A Clinic-Based Interdisciplinary Team Approach for Children Newly Identified as D/HH. 14th Proceedings of the Annual Early Hearing Detection and Intervention (EHDI) Conference. Louisville, KY. March, 2015.

161. Bruha, C.; Williamson-Dean, L.; Hallford, G. and Schaefer, G.B.: The Role of the Geneticist in the Patient-Centered Medical Home. Abstract #388. Proceedings of the Annual Meeting of the American College of Medical Genetics. Salt Lake City, UT. March 24-28, 2015.

162. Tuttle, L.; Schaefer, G.B.; Danylchuk, N.; Chen, J.; Alfaro, M. and Kaylor, J.: Exome Sequencing Ordering Practices and Outcomes at a Pediatric Institution. Abstract #676. Proceedings of the Annual Meeting of the American College of Medical Genetics. Salt Lake City, UT. March 24-28, 2015.

163. Mann, S.; Keehn, A.; Dean, L.; Andersson, H.C. and Schaefer, G.B.: Increasing Telegenetics Providers in the United States. Abstract #275. Proceedings of the Annual Meeting of the American College of Medical Genetics. Salt Lake City, UT. March 24-28, 2015.

ACKNOWLEDGED WORK 1. Smith, S.D.; Kelley, P.M.; Kenyon, J.B.; and Hoover, D.: Tietz Syndrome (Hypopigmentation/Deafness)

Caused by Mutation of MITF. J Med Genet. 37(6):446-8, 2000. (Dysmorphology Consultation) 2. Kaye, C.I.; Livingston, J.; Canfield, M.A.; Mann, M.Y.; Lloyd-Puryear, M.A. and Therrell, B.L. Jr.:

Assuring Clinical Genetic Services for Newborns Identified Through U.S. Newborn Screening Programs. Genet Med. (8):518-27, 2007 (Ad Hoc Expert Committee on the Definition of Genetic Services) SELECTED MEETING PRESENTATIONS 1. Genetic Effects Upon Developmental Compartments in the Drosophila Wing. Oklahoma Academy of

Science, 12/12/78. 2. Polyamine Pools in the Blood of Patients with Cystic Fibrosis (Poster Session), Cystic Fibrosis Club,

04/28/80. 3. Treatment of Hepatic Phosphorylase Deficiency with High Protein Nocturnal Intragastric Nutrition (Poster

Session). Southern Society for Pediatric Research, 01/26/84. 4. Dominantly Inherited Craniodiaphyseal Dysplasia: A New Craniotubular Dysplasia. Southern Society

Pediatric Research, 02/05/86. 5. Phosphorylase Deficiency in a Patient with Fanconi Syndrome (Poster Session) Southern Society

Pediatric Research, 02/06/86. 6. Craniometaphyseal Dysplasia: Genetic Implications from a Large Family Pedigree. (Poster Session)

Southern Society for Pediatric Research, 01/28/87. 7. Familial Hypocalciuric Hypercalcemia suggestive of Hyperparathyroidism: A report of a kindred. (Poster

Session) Southern Society for Pediatric Research, 01/28/87. 8. A Syndrome of Multiple Epiphyseal Dysplasia, Mental Deficiency, Cataracts, Growth Hormone

Deficiency, and Primary Hypothyroidism. Southern Society for Pediatric Research, 02/05/88.

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9. Turner Syndrome: A Fifty year update. The Life of Henry Turner. International Turner Syndrome Society Meeting. 05/27/88.

10. Growth Hormone Influences Upon Apolipoprotein Metabolism. A Pilot Study. Pediatric Endocrine Society of Texas and Oklahoma. 09/16/88.

11. Growth Hormone Influences Upon Apolipoprotein Metabolism. Genentech National Cooperative Growth Study Symposium PMS III 10/27/88 (Poster Session).

12. Growth Hormone Influences Upon Apolipoprotein Metabolism. Southern Society for Pediatric Research. 02/20/89.

13. Short Term and Intermediate Effects of Growth Hormone Upon Apolipoprotein Status. Genentech National Cooperative Growth Symposium PMS III. 11/15/89 (Poster Session).

14. Response to Biosynthetic Growth Hormone in "GH-deficient" vs. "Non-deficient" Children. Southern Society for Pediatric Research. 01/18/90.

15. Short Term and Intermediate Effects of Growth Hormone Upon Apolipoprotein Status. Southern Society for Pediatric Research. 01/19/90.

16. Quantitation of Microfibrillar Immunofluorescence in Marfan Syndrome. Western Society of Pediatric Research. 02/09/91.

17. Further Studies in the Quantitation of Microfibrillar Immunofluorescence in Marfan Syndrome. Great Plains Clinical Genetics Society. 04/07/91.

18. Apolipoprotein Status in Pregnancy Complicated by Phenylketonuria. Midwest Metabolic Network Meeting. 06/08/91.

19. Subtle Markers of Cerebral Dysgenesis. 23rd Annual March of Dimes Clinical Conference. 07/10/91. 20. Brain Findings in Acrocephalosyndactylies: Clinical and Morphometric Analysis. 23rd Annual March of

Dimes Clinical Conference. (Poster Session) 07/10/91. 21. Computerized Image Analysis of Brain Morphometry in Usher Syndrome. 8th International Congress of

Human Genetics. (Poster Session). 10/7/91. 22. Quantitative Morphometry of Brain MRI Scans in Children Before and After Cardiac Surgery. 2nd

International Conference on the Brain and Cardiac Surgery. 09/27/92. 23. The Cerebellar Vermis in Autism and Autistic Behavior. 42nd Annual Meeting of The American Society

of Human Genetics. (Poster Session). 11/10/92. 24. Facial Morphometry of a Growth Hormone Receptor Deficiency Syndrome in an Ecuadorian Population.

Western Society of Pediatric Research (Poster Session). 02/16/93. 25. Neuroendocrine and Neurophysiologic Changes in Adolescence. Invited Speaker. 51rst Annual

American Cleft Palate / Craniofacial Association. Toronto, Ontario, Canada. 05/16/94. 26. Lipoprotein Status in Pregnancy Complicated by PKU. Invited Speaker. Midwest Metabolic Meeting.

Indianapolis, 06/18/94. 27. Plasma Lipids and Apolipoproteins in Pregnant Women with PKU. Invited speaker. Fifth Ross Metabolic

Conference: Advances in Management of Inherited Metabolic Disorders. Phoenix, AZ, 05/19/95 28. Apolipoproteins in PKU and Other Genetic Disorders. Midwest Metabolic Meeting. Chicago, IL.

09/13/97. 29. Neurogenetic Aspects of Neural Tube Defects. 1997 Annual Meeting of the American Association of

University Affiliated Programs for Persons with Disabilities. Kansas City, MO, 11/8/97. 30. Facial Morphometry in Children with Growth Hormone Deficiency. 55th Annual American Cleft Palate -

Craniofacial Association Meeting, Baltimore, MD, 04/24/98. 31. Cleft Palate / Craniofacial Records: Practice in Digital Photography. 58th Annual American Cleft Palate -

Craniofacial Association Meeting, Minneapolis, MN. 04/26/2001. 32. Genetics in Orthopedics. Annual Meeting of the American Academy of Pediatrics - Section on

Orthopedics. San Francisco, CA. 10/21/2001. 33. Neurogenetic Aspects of Communication Disorders: A Mini-Symposium. Annual Meeting of the American

Speech and Hearing Association. Atlanta GA. 11/22/2002 34. Genetics of Communication Disorders & The New Genetics: Applications in Practice. Meryl Norton

Hearst Lecture Series, University of Northern Iowa. Invited Named Lecturer. 02/20/2004. 35. Clinical Genetic Evaluation of the Etiology of Autism Spectrum Disorder. Platform Presentation.

29

American College of Medical Genetics / 36th Annual March of Dimes Meeting. Dallas, TX. 03/20/2005. 36. Genetic Aspects of Communication Disorders. Inez Miller Conference on Communication Sciences and

Disorders. University of Central Oklahoma. 04/01/2006. 37. Genetics of Neurodevelopmental Disabilities. Pediatric Grand Rounds, Medical City Dallas. March 12,

2007. 38. Genetic Evaluation of Autism. Invited Keynote Speaker. Annual Meeting of the Association of Genetic

Technologists. Denver, CO. 06/01/2007. 39. The Medical Genetics Approach to the Child with Autism. Invited Plenary Session Speaker. 57th Annual

Meeting of the American Society of Human Genetics. San Diego, CA, 10/26/2007 40. Genetic Aspects of Learning and Behavior. Neuroscience Visiting Lecture Series. Morehouse College,

Atlanta GA. 02/12/2008. 41. Applications of Tele-genetics. Invited Speaker. Mid-Year Meeting of the American Telemedicine

Association. Tampa, FL. 09/16/2008 42. Genetics in the Classroom. Invited Speaker. Boystown National Research Hospital. Omaha, NE.

09/30/2008 43. Genetics and Autism. Invited Speaker. American Academy of Pediatrics. Boston, MA. 10/11-12/2008 44. Genetics and Autism. Invited Speaker. National Society of Genetic Counselors. Los Angeles, CA.

10/27/2008. 45. Selected Syndromes of the Head and Neck. Invited Speaker. National Birth Defects Prevention Network

Annual Meeting. Nashville, TN. 02/24/2009. 46. Genetic Considerations in Autism. International Association of Behavioral Analysis. B.F. Skinner

Lecturer. Phoenix, AZ. 05/26/2009 47. Genetics of Neurodevelopmental Disabilities. Association of Genetic Technologists. Keynote Speaker.

Jacksonville, FL. 06/25/2009. 48. Genetics of Hearing Loss. American Speech-Hearing Association. Audiology 2010: Early Hearing

Detection and Intervention. National Webinar. 10/22/2010. 49. Etiologic Investigation of Autism: What’s a Clinician to Do? The Spectrum of Developmental Disabilities

XXXIII: Autism: School-Age and Beyond. Johns Hopkins University School of Medicine. Baltimore, MD. March 28, 2011.

50. Clinical Applications of Multi-Locus Testing. Annual Meeting of the Association of Molecular Pathologists. Grapevine (Dallas) TX. November 19, 2011.

51. Genetic Assessment of Hearing Loss. Chapter Champions Luncheon. 11th Annual Early Hearing Detection and Intervention Conference, St. Louis, MO. March 6, 2012.

52. EHDI and the Genome: A Fascinating Couple. Invited Plenary Speaker. 11th Annual Early Hearing Detection and Intervention Conference, St. Louis, MO. March 6, 2012.

53. Genetic Considerations in Autism. Invited Plenary Speaker. First Annual Genomic Symposium. Sanford Research Center, University of South Dakota. Sioux Falls, SD. September 29th, 2012.

54. Genetics Gets Personal. Invited Keynote Speaker. Annual Meeting of the Oklahoma Speech-Language Hearing Association, Tulsa OK. October 4th, 2013.

55. Genetics in Pediatric Neurology. Paul R. Dyken Scholarship Lecture. Southern Society of Pediatric Neurology. New Orleans, LA. March 22, 2014.

56. Genetics of Diabetes. Annual Pediatric Forum. Children’s’ Hospitals of Minnesota. Krishna M. Saxena, MD Endocrine Lecture. Minneapolis, MN. Sept. 18th, 2014.

57. Genetics of Neurodevelopmental Disabilities. Prevention Genetics Laboratories. Marshfiled, WI. 09/11/2015.

58. Genetics of Hearing Loss. Annual Meeting, Kansas Speech-Hearing Association. Wichita, KS. 09/25/2015.

GRADUATE / POST DOC STUDENT COMMITTEES 1. Dorothy Elizabeth Averyt. Master of Liberal Studies. University of Oklahoma, Norman.

The Genetic Influence upon Alcohol Dependence and Alcohol Abuse. 06/06/87.

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2. Vicki Evans Randolf. Master of Science. University of Oklahoma, Norman. Paternal Age Effects on Mutant Penetrance and Expressivity of Drosophila melanogaster. 04/28/90.

3. Jennifer Marie Craft, MSIA Master’s program, (Major Professor). University of Nebraska Medical Center. Quantitative Image Analysis of Inner Ear Malformations. 11/17/99.

4. Julie Houfek, RN, Ph.D. KO1 Mentored Research Scientist Award. National Institute of Nursing Research (KO1 NR00098-2) Co-sponsor 1999- 2001

5. Lana Svien, MA, PT. MSIA, Ph.D. program, (Major Professor). University of Nebraska Medical Center. The Effects of Prematurity on Exercise Tolerance and Fitness. 12/15/2002.

6. Kathleen Marie Healy, Ph.D., (Advisory Committee). University of Nebraska Medical Center. Measurement of Disease in Multiple Sclerosis. 04/08/2005.

7. Nicholas Stergio, Ph.D. Mentored Research Scientist Award. National Institute of Health (KO1) Co-mentor 2005 - 2008.

8. Jennifer Sanmann, MSIA, MS. Testing Algorithm for MECP2 Analysis to Identify Sequencing Mutations, Large-Scale Deletions and Large-Scale Duplications. University of Nebraska Medical Center. 06/01/2008.

9. Kristi DeHaai. MSIA. Genotype and Behavioral Phenotype Correlation Study for Predictive Behavioral Outcomes in Sotos syndrome. University of Nebraska Medical Center. 11/19/2009. 10. Michelle Mercado. Occupational Therapy Clinical Doctorate. eLearning for Parents of Children With Sotos Syndrome and Feeding Problems. St. Catherine University, 12/18/2014

CLINICAL FELLOWS 1. Program Director. Madeleine MacDonald, MD. Clinical Genetics. University of Nebraska Medical Center,

1991 - 1994 2. Program Director. Kent Amstutz, MD. Developmental Pediatrics. University of Nebraska Medical Center,

1995 – 1996 3. Program Director. Howard Needleman, MD. Developmental Pediatrics. University of Nebraska Medical

Center, 1997 - 1998. 4. Scholarship Research Advisory Committee. Nancy Beck, MD. Endocrinology. University of Arkansas for Medical Sciences. 2008 - 2010 PAST FUNDING Source and Identifying #: March of Dimes - Student Research Grant Principal Investigator: Thomas Seale Title: Polyamines in Cystic Fibrosis Role in Project: Student Researcher Time/% Effort: 100 % Effort Dates and Costs of 05/15/79 - 08/15/79 $1000 Entire Project: Major Goals: Evaluate the role of polyamine abnormalities in cystic fibrosis Source and Identifying #: March of Dimes - Student Research Grant Principal Investigator: Owen Rennert Title: Polyamines in Cystic Fibrosis Role in Project: Student Researcher Time/% Effort: 100 % Effort Dates and Costs of 05/15/80 - 08/15/80 $1000 Entire Project: Major Goals: Evaluate the role of polyamine abnormalities in cystic fibrosis (continued studies)

31

Source and Identifying #: Oklahoma State Health Department Principal Investigator: Owen Rennert / Adolfo Garnica Title: Oklahoma Genetic Counseling Network Role in Project: Co - Investigator Time/% Effort: 10 % Effort Dates and Costs of 07/01/85 - 06/30/90 $182,500 Entire Project: Major Goals: Provide clinical genetic services in rural Oklahoma Source and Identifying #: Public Health Service/Indian Health Service. Principal Investigator: G. Bradley Schaefer Title: Assessment of Fetal Alcohol Syndrome/Fetal Alcohol Effect Within the Oklahoma

Indian Health Service Role in Project: Principal Investigator Time/% Effort: 5 % Effort Dates and Costs of 12/01/86 - 11/30/87 $10,000 Entire Project: Major Goals: Develop a culturally appropriate system for identifying FAS in patients in the IHS

system in Oklahoma Source and Identifying #: Genentech Corporation Principal Investigator: G. Bradley Schaefer Title: Effects of Growth Hormone Therapy upon Lipoprotein Metabolism in Children. Role in Project: Principal Investigator Time/% Effort: 2 % Effort Dates and Costs of 09/20/87 - 08/31/89 $3,500 Entire Project: Major Goals: Evaluate GH effects on apolipoproteins Source and Identifying #: Eli Lilly Corporation Principal Investigator: Adolfo Garnica Title: Growth Hormone Treatment in Patients with Turner Syndrome. Role in Project: Co - Investigator Time/% Effort: 5 % Effort Dates and Costs of 10/01/87 - 09/30/88 $12,000 Entire Project: Major Goals: Evaluate clinical response to GH therapy in girls with Turner Syndrome Source and Identifying #: Genentech Corporation Principal Investigator: G. Bradley Schaefer Title: Post - Marketing Study for Patients Treated with Methionyl Growth Hormone. Role in Project: Principal Investigator Time/% Effort: 5 % Effort Dates and Costs of 07/01/87 - 06/30/90 $72,000 Entire Project: Major Goals: Follow clinical parameters of patients on GH therapy Source and Identifying #: Oklahoma State Health Department . Principal Investigator: G. Bradley Schaefer

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Title: Indian Health Service Grant for Tribal Genetic Services. Role in Project: Principal Investigator Time/% Effort: 5% Effort Dates and Costs of 07/01/88 - 06/30/90 $12,700 Entire Project: Major Goals: Provide clinical Genetic Services to IHS health care facilities Source and Identifying #: Eli Lilly Corporation Principal Investigator: G. Bradley Schaefer Title: Humatrope Dose Frequency Study. Role in Project: Principal Investigator Time/% Effort: 5% Effort Dates and Costs of 04/10/89 - 04/09/90 $14,000 Entire Project: Major Goals: Evaluate differences in GH dose frequency regimens Source and Identifying #: Bureau of Maternal and Child Health. National Collaborative Study Principal Investigator: Charles Sexauer Title: Hemophilia Growth and Development Project Role in Project: Regional Pediatric Endocrine Consultant Time/% Effort: N/A Dates and Costs of 04/01/89 - 03/31/90. $2000 Entire Project: Major Goals: Assess growth and development in children with hemophilia Source and Identifying #: Genentech Corporation Principal Investigator: G. Bradley Schaefer Title: Short term, Intermediate, and Long term Effects of Treatment with Methionyl

Growth Hormone Role in Project: Principal Investigator Time/% Effort: 2% Effort Dates and Costs of 04/20/89 - 04/19/90 $2,000 Entire Project: Major Goals: Evaluate GH effects over time

Source and Identifying #: Genentech Corporation Principal Investigator: G. Bradley Schaefer Title: Computer Database Development Grant. Role in Project: Principal Investigator Time/% Effort: 1 % Effort Dates and Costs of 06/15/88 - 06/14/89 $1700 Entire Project: Major Goals: Establish database for GH patients Source and Identifying #: Eli Lilly Corporation Principal Investigator: Jack Metcoff / G. Bradley Schaefer Title: Early Detection of Growth Hormone Response Using a Cellular Nutritional Assay. Role in Project: Co - Principal Investigator

33

Time/% Effort: 5 % Effort Dates and Costs of 09/01/88 - 08/31/89 $65,000 Entire Project: Major Goals: Use a cellular nutritional assay to try and predict GH response pre-therapy Source and Identifying #: Great Plains Genetics Society Network Principal Investigator: Jim Hanson Title: Newborn Screening / Reproductive Genetics Committee Allocations. Role in Project: Committee chairman Time/% Effort: N/A Dates and Costs of 10/01/90 - 09/30/93 $3000 Entire Project: Major Goals: Committee coordination Source and Identifying #: Fraternal Order of the Eagle Principal Investigator: G. Bradley Schaefer Title: Assessment of Cerebral Dysgenesis in Idiopathic Mental Retardation. Role in Project: Principal Investigator Time/% Effort: 1 % Effort Dates and Costs of 03/15/91- 03/14/92 $5000 Entire Project: Major Goals: Use quantitative image analysis techniques to assess cerebral dysgenesis

Source and Identifying #: Indian Health Service Principal Investigator: G. Bradley Schaefer Title: Outreach Genetics Services Clinic - Fetal Alcohol Syndrome evaluation. Role in Project: Principal Investigator Time/% Effort: 1% Effort Dates and Costs of 07/01/90 - 06/30/92 $3200 Entire Project: Major Goals: Provide clinical genetic services to IHS facilities in Nebraska Source and Identifying #: Meyer Rehabilitation Institute Women's Guild Principal Investigator: G. Bradley Schaefer Title: Assessment of Brain Formation in Macrocephalic Mental Retardation Role in Project: Principal Investigator Time/% Effort: 3 % Effort Dates and Costs of 04/01/92 - 03/31/93 $13,700 Entire Project: Major Goals: Evaluate brain morphometry in macrocephalic patients with developmental delays Source and Identifying #: University of Nebraska Medical Center, Edna Ittner Grant Principal Investigator: Julia Bridge Title: In-situ Hybridization of Gonadal Tissue From Sex Chromosome Aneuploidy

Individuals Role in Project: Co-Investigator

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Time/% Effort: 3 % Effort Dates and Costs of 07/01/92 - 06/30/93 $15,000 Entire Project: Major Goals: Use FISH to assess sex chromosome mosaicism status in gonadal tissues Source and Identifying #: Veterans Administration - Young Investigator Award Principal Investigator: Gary Gorby Title: Quantitative Image Analysis of Invasion of Neisseria gonorrhea in a Fallopian

Tube Model Role in Project: Consultant Time/% Effort: Contractual Dates and Costs of 01/10/92 $2000 Entire Project: Major Goals: Apply quantitative image analysis techniques to a in vitro system for gonococcal

invasion Source and Identifying #: University of Nebraska Medical Center Biotechnology Support - Individual Allocation Principal Investigator: G. Bradley Schaefer Title: Pedigree Software Development Project Role in Project: Principal Investigator Time/% Effort: N/A Dates and Costs of 09/01/92 , $7400; 10/12/93 $15, 350 ; 10/01/96 $5000 Entire Project: Major Goals: Develop an automated pedigree drawing program

Source and Identifying #: Nebraska State Health Department, Maternal and Child Health Block Grant. Principal Investigator: Warren Sanger / G. Bradley Schaefer Title: Nebraska Birth Defects Prevention Program Role in Project: Co-Principle Investigator Time/% Effort: 30% Effort Dates and Costs of 07/01/92 - 06/3094 $460,000 Entire Project: Major Goals: Provide clinical genetics services to greater Nebraska Source and Identifying #: NIH National Collaborative Study Principal Investigator: William Krivit Title: Study of the Value of Bone Marrow Transplant for Storage Diseases Role in Project: Regional Participant Time/% Effort: N/A Dates and Costs of Sub-contract FY 1994-5 $6000 Entire Project: Major Goals: Assess the effectiveness of BMT for inborn errors of metabolism Source and Identifying #: NICHD, DC9302 Principal Investigator: Paul Ing Title: Hereditary Hearing Impairment Resource Registry

35

Role in Project: Clinical Genetics Consultant Time/% Effort: N/A Dates and Costs of 07/01/93 - 06/30/96 $6000 (Sub-contract) Entire Project: Major Goals: Develop a registry for hereditary hearing loss Source and Identifying #: Department of the Army. Principal Investigator: Henry Lynch Title: Genetic Counseling Using BRCA1- Linked Markers Role in Project: Clinical Genetics Consultant Time/% Effort: 1% Effort Dates and Costs of FY 1994 $990,000 Entire Project: Major Goals: Establish protocol for providing cancer genetics using BRCA1-1 information Source and Identifying #: UNMC Edna Ittner Grant Principal Investigator: Sorraya Beiraghi Title: Searching for the Cleft Palate Gene by Linkage Analysis Role in Project: Clinical Consultant Time/% Effort: 2% Effort Dates and Costs of 07/01/95 - 06/30/96 $15,000 Entire Project: Major Goals: Establish linkage for genes in clefting of the palate Source and Identifying #: NIH Principal Investigator: Sorraya Beiraghi Title: Search for a CL(P) Gene(s) on chromosome 4q Role in Project: Clinical Consultant Time/% Effort: 2% Effort Dates and Costs of 09/14/95 - 08/31/97 $50,000 Entire Project: Major Goals: Establish linkage for genes in orofacial clefting Source and Identifying #: American Cancer Society Principal Investigator: James McConnell Title: Proton Spectroscopy of the Brain in Bone Marrow Transplantation Role in Project: Co-Investigator Time/% Effort: 5% Effort Dates and Costs of 01/15/94 - 01/14/95 $17,500 Entire Project: Major Goals: Quantitate CNS effects of BMT by spectroscopy and morphometry Source and Identifying #: American Cancer Society Institutional Research Grant (Individual Allocation) Principal Investigator: V elidi Rao Title: Gelatinases and Their Inhibitors in Giant Cell Tumor Role in Project: Co-Investigator Time/% Effort: 3% Effort

36

Dates and Costs of 07/15/94 - 07/14/95 $14,000 Entire Project: Major Goals: Identify factors in metastatic potential of GCT of bone Source and Identifying #: Nebraska Department of Social Services Principal Investigator: Wayne Stuberg Title: Quality Improvement Plan for Medically Handicapped Childrens’ Program:

Multidisciplinary Cinics Role in Project: Co-Investigator Time/% Effort: 3% Effort Dates and Costs of 4/1/96 - 3/30/97 $82,000 Entire Project: Major Goals: Coordination of MHCP teams standards by TQM Source and Identifying #: Nebraska Department of Health and Human Services Principal Investigator: G. Bradley Schaefer Title: Genetic Counseling for Hemoglobinopathies Identified in the Newborn Period Role in Project: Principal Investigator Time/% Effort: 1% Dates and costs of 1/1/96-12/31/97 $39,456 Entire Project: Dates and Costs of 1/1/96-12/31/97 $39,456 Current Year: Major Goals: Provide follow up counseling and diagnosis for hemoglobinopathies identified on

newborn screening Source and Identifying #: National Institute of Nursing Research . KO1 Mentored Research Scientist Award

NR00098-01 Principal Investigator: Julia Houfek Title: Genetic Testing for Cancer Risk: Psycho/social Impact Role in Project: Co-Sponsor Time/% Effort: Match Dates and costs of 6/1/97-5/31/99 $247,500 Entire Project: Dates and Costs of 6/1/98-5/31/99 $ 82,000 Current Year: Major Goals: Assess psycho-social impact of breast cancer gene testing Source and Identifying #: HRSA 5 MCJ 319152-07-01 Principal Investigator: G. Bradley Schaefer Title: Nebraska LEND Interdisciplinary Training Program Role in Project: Principal Investigator Time/% Effort: 40 % Effort Dates and Costs of 7/1/95-6/30/99 $1,950,802 Entire Project: Dates and Costs of 7/1/98-6/30/99 $ 439,678 Current Year: Major Goals: Training of professional to become leaders in the community for provision of

services for persons with disabilities

37

Source and Identifying #: Nebraska Department of Health and Human Services MCH-98-52 Principal Investigator: G. Bradley Schaefer Title: Statewide Network for Children with Special Health Care Needs Role in Project: Principal Investigator Time/% Effort: 20% Effort Dates and Costs of 7/1/94 - 6/30/99 $1,512,368 Entire Project: Dates and Costs of 7/1/98-6/30/99 $308,684 Current Year: Major Goals: Coordination of a Network of interdisciplinary services for children with special

health care needs. Source and Identifying #: NIH - NIDCD , Program Project Grant #P01 DC01813 Principal Investigator: William Kimberling Title: Molecular Genetics of the Auditory System Role in Project: Clinical Genetics Consultant - Core A Time/% Effort: Contracted for service ($3000 / year) Dates and costs of 07/01/96 - 06/30/99 $2,958,165 Entire Project: Dates and Costs of 07/01/98-06/30/99 $985,562 Current Year: Major Goals: Identify specific genetic loci for hereditary hearing loss, and to establish genotype

/ phenotype correlations for these loci. Source and Identifying #: American Cancer Society EDT - 83453 Principal Investigator: Monica Traystman, Ph.D. Title: A Molecular Risk Assessment Panel Predicts Increased Risk for Metastasis Role in Project: Clinical Genetics Consultant Time/% Effort: Match Dates and costs of 07/01/96 - 06/30/99 $300,000 Entire Project: Dates and Costs of 07/01/98 - 06/30/99 $100,000 Current Year: Major Goals: To establish a molecular monitoring program for minimal residual disease and a

gene panel for risk assessment of relapse in breast cancer patients Source and Identifying #: American Academy of Pediatrics, CATCH (Community Access to Child Health)

Grant Principal Investigator: Ken Shafer and Barbara Jackson Title: Nebraska NICU Follow Up Program Role in Project: Consultant / Advisor Time/% Effort: Match Dates and costs of 07/01/98 - 06/30/99 $6000 Entire Project: Dates and Costs of 07/01/98 - 06/30/99 $6000

38

Current Year: Major Goals: Develop a coordinated system of follow up, tracking, and assessment of all NICU

graduates in Nebraska Source and Identifying #: UNMC / Eppley Cancer Center PO1 funds Principal Investigator: Julia Houfek, PhD Title: Genetic Counseling for Smoking : Psychosocial Impact Role in Project: Consultant Time/% Effort: Match Dates and costs of 10/01/98 - 09/30/99 $65,000 Entire Project: Dates and Costs of 10/01/98 - 09/30/99 $65,000 Current Year: Major Goals: To evaluate psychosocial responses to genetic counseling given regrading

dopamine receptor gene status and smoking addiction / cessation Source and Identifying #: Department of Health and Human Services, Federal Maternal and Child Health

Bureau MCJ-191002-14 Principal Investigator: G. Bradley Schaefer Title: Great Plains Genetics Services Network Genetic Diseases Testing and

Counseling Project Role in Project: Co-Principal Investigator Time/% Effort: 8% Effort Dates and Costs of 10/1/93-9/30/99 $1,373,322 Entire Project: Dates and Costs of 10/1/98-9/30/99 $228,887 Current Year: Major Goals: Coordination of clinical genetic services for the Great Plains Genetics Services

Network. Source and Identifying #: Nebraska LB595 Cigarette Tax Cancer Prevention Act Principal Investigator: Margaret Tempero Title: Studies on Genetic Counseling and Testing in Human Cancers. Clinical Genetics

Core. Role in Project: Director, Clinical Genetics Core Time/% Effort: 5% Match Dates and Costs of 10/01/94 - 09/30/99 $300,000 Entire Project: Dates and Costs of 10/01/98 - 09/30/99 $60,000 Current Year: Major Goals: Establish, maintain and expand a clinical cancer genetics network as a resource

for investigators Source and Identifying #: NIH RFA CA-95-21 Principal Investigator: Margaret Tempero Title: SPORE in Gastrointestinal Cancer

39

Role in Project: Consultant : Pancreatic Cancer Registry Time/% Effort: Match Dates and Costs of 12/1/96-11/30/99 $4,809,818 Entire Project: Dates and Costs of 12/1/97-11/30/98 $1,492,851 Current Year: Major Goals: This application for a SPORE in gastrointestinal cancer addresses major issues of

importance in pancreatic carcinoma and focuses on prevention and early detection.

Source and Identifying #: Synpac, Inc. Study GAA-CL-002 Principal Investigator: Y.T. Chen Title: A Continuation Study for rhGAA Enzyme Replacement Therapy in Pompe Disease Role in Project: Sub-Investigator Time/% Effort: 5% Dates and costs of 02/01/00 - 03/01/01 $43,000 Entire Project: Dates and Costs of 02/01/00 - 03/01/01 $43,000 Current Year: Major Goals: Investigate the efficacy and potential side effects of recombinant human acid-

alpha-glucosidase in Pompe disease Source and Identifying #: HRSA Principal Investigator: G. Bradley Schaefer Title: Nebraska LEND Interdisciplinary Training Program (Competitive Renewal) Role in Project: Principal Investigator Time/% Effort: 40 % Effort Dates and Costs of 07/01/99 - 06/30/01 $2,500,000 Entire Project: Dates and Costs of 07/01/00 - 06/31/01 $ 500,000 Current Year: Major Goals: Training of professional to become leaders in the community for provision of

services for persons with disabilities Source and Identifying #: State of Nebraska - Nebraska Research Initiative Principal Investigator: Richard Finnell Title: Program for the Study of Gene - Environment Interactions as They Relate to Birth

Defects Role in Project: Clinical Consultant Time/% Effort: 5% Match Dates and costs of 07/01/00 - 06/30/02 $465,180 Entire Project: Dates and Costs of 07/01/00 - 06/30/01 $232,590 Current Year: Major Goals: Identify specific gene - environment interactions in multifactorial conditions such as

NTD’s and orofacial clefting

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Source and Identifying #: Department of Health and Human Services, Federal Maternal and Child Health Bureau MCJ-319632

Principal Investigator: G. Bradley Schaefer Title: Project LEARN (Leadership Education in Advancement in Research in

Neuroscience) Role in Project: Principal investigator Time/% Effort: 5% Effort Dates and costs of 10/01/98 - 09/30/01 $300,000 Entire Project: Dates and Costs of 10/01/00 - 09/30/01 $100,000 Current Year: Major Goals: Develop a National Resource for Education in Interdisciplinary Approaches to

Clinical Neuroscience\ Source and Identifying #: Nebraska Department of Education Principal Investigator: G. Bradley Schaefer, MD Title: Feasibility Study : Tele-Health Network for Children with Special Health Care

Needs in Nebraska Role in Project: Principal Investigator Time/% Effort: 23% Dates and costs of 04/01/01 - 09/30/01 $30,000 Entire Project: Dates and Costs of 04/01/01 - 09/30/01 $30,000 Current Year: Major Goals: Evaluate 4 potential pilot project sites for beginning a tele-health consultation

network in Nebraska for children with special health care needs. Source and Identifying #: HRSA CFDA #93.926G Principal Investigator: Carol Williams Title: Improving Screening for Alcohol Use During Pregnancy Among Providers : A

Demonstration Project Role in Project: Co-Investigator Time/% Effort: 4% Dates and costs of 07/01/99 - 06/30/02 $450,000 Entire Project: Dates and Costs of 07/01/01 - 06/30/02 $150,000 Current Year: Major Goals: Implement and evaluate different methods of improving perinatal substance abuse

screening in multiple clinical practice settings. Source and Identifying #: Nebraska Department of Health and Human Services MCH-00-52 Principal Investigator: G. Bradley Schaefer Title: Statewide Network for Children with Special Health Care Needs Role in Project: Principal Investigator Time/% Effort: 25% Effort Dates and Costs of 7/1/99 - 9/30/02 $755,000 Entire Project:

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Dates and Costs of 7/1/01 - 9/30/02 $285,000 Current Year: Major Goals: Coordination of a Network of interdisciplinary services for children with special

health care needs. Source and Identifying #: NICDR Project # 12514 Principal Investigator: Betty Jane Phillips Title: Craniofacial Outcomes Registry Role in Project: Consultant Time/% Effort: $3,400 / year Dates and Costs of 01/1/98 - 12/31/02 $2,366,518 Entire Project: Dates and Costs of 01/01/01 - 12/31/02 $453,092 Current Year: Major Goals: To establish and monitor standards of care for the treatment of persons with

craniofacial disorders Source and Identifying #: Nebraska Department of Health and Human Services MCH-00-52 Principal Investigator: G. Bradley Schaefer Title: Statewide Network for Children with Special Health Care Needs Role in Project: Principal Investigator Time/% Effort: 20% Effort Dates and Costs of 10/01/02 - 09/30/03 $185,000 Entire Project: Dates and Costs of 10/01/02 - 09/30/03 $185,000 Current Year: Major Goals: Coordination of a Network of interdisciplinary services for children with special

health care needs. Source and Identifying #: Maternal & Child Health Bureau Principal Investigator: Julie Miller Title: State Genetic Plan for Comprehensive Integrated Newborn Screening & Genetics

Infrastructure for Children with Special Health Care Needs Role in Project: Project Director Time/% Effort: 3% Dates and costs of 07/01/01- 06/30/03 $ 149,121 Entire Project: Dates and Costs of 07/01/02- 06/30/03 $ 74,838 Current Year: Major Goals: Establish a Statewide plan for genetic services that integrates programs for clinical

genetics, newborn screening and children with special health care needs projects. Source and Identifying #: Genesis Fund / TYCO “Centers of Excellence in Clinical Genetics” Principal Investigator: G. Bradley Schaefer Title: Neurosensory Genetics

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Role in Project: Principal Investigator Time/% Effort: 1 % Dates and costs of 06/01/2002 - 05/31/2003 $30,000 Entire Project: Dates and Costs of 06/01/2002 - 05/31/2003 $30,000 Current Year: Major Goals: Promote excellence in clinical genetics activities in a multi-disciplinary program for

hereditary hearing loss. Source and Identifying #: HRSA CFDA #93.926G Principal Investigator: Carol Williams Title: Improving Screening for Alcohol Use During Pregnancy Among Providers : A

Demonstration Project (Contract extension) Role in Project: Co-Investigator Time/% Effort: 1% Dates and costs of 07/01/02 - 06/30/03 $10,000 Entire Project: Dates and Costs of 07/01/02 - 06/30/03 $10,000 Current Year: Major Goals: Implement and evaluate different methods of improving perinatal substance abuse

screening in multiple clinical practice settings. Source and Identifying #: HRSA Principal Investigator: G. Bradley Schaefer Title: Nebraska LEND Interdisciplinary Training Program (Competitive Renewal) Role in Project: Principal Investigator Time/% Effort: 25 % Effort Dates and Costs of 07/01/99 - 06/30/04 $2,500,000 Entire Project: Dates and Costs of 07/01/03 - 06/31/04 $ 500,000 Current Year: Major Goals: Training of professional to become leaders in the community for provision of

services for persons with disabilities Source and Identifying #: NIH - NIDCD Program Project Grant #2P01 DC001813-07 (competitive renewal) Principal Investigator: William Kimberling Title: Molecular Genetics of the Auditory System Role in Project: Core B : Clinical and Family Collection Time/% Effort: Contracted for service ($3600 / year) Dates and costs of 04/01/00 - 03/31/05 $2,958,165 Entire Project: Dates and Costs of 04/01/03 - 03/31/04 $985,562 Current Year: Major Goals: Identify specific genetic loci for hereditary hearing loss, and to establish genotype

/ phenotype correlations for these loci.

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Source and Identifying #: Department of Education Principal Investigator: Becky Butler Title: Mid-America Genetics Distance Education Consortium Role in Project: Medical Director Time/% Effort: 10% Dates and costs of 05/01/2004 - 04/30/2006 $2.6 million (UNMC portion $571,200) Entire Project: Dates and Costs of 05/01/2005 - 04/30/2006 $285,600 Current Year: Major Goals: Develop and implement a new web-based genetic counselor training program in

collaboration with 3 other states. Source and Identifying #: Genzyme Corporation Study ( GAA-CL-002) Principal Investigator: G. Bradley Schaefer Title: A Continuation Study for rhGAA Enzyme Replacement Therapy in Pompe Disease Role in Project: Prinicpal Investigator Time/% Effort: 15% Dates and costs of 03/01/00 - 05/01/06 Cumulative $222,654 Entire Project: Dates and Costs of 04/28/05 - 05/01/06 $37,109 Current Year: Major Goals: Investigate the efficacy and potential side effects of recombinant human acid-

alpha-glucosidase in Pompe disease Source and Identifying #: South Dakota Department of Health and Human Services Principal Investigator: G. Bradley Schaefer Title: Genetics Outreach Clinics Role in Project: Principal Investigator Time/% Effort: 2% Dates and costs of 07/01/02 - Present, Cumulative $330,834 Entire Project: Dates and Costs of 07/01/2007 - 01/30/2008 $46,334 Current Year: Major Goals: Provide clinical services for clinical genetics in South Dakota : Rapid City, Pierre Source and Identifying #: CMS Grant Principal Investigator: Jeanne Garvin Title: EPSDT Portals to Adulthood Grant Role in Project: Project Director Time/% Effort: 10% Dates and Costs of 01/01/2005 - 12/31/2007, $240,000 Entire Project: Dates and Costs of 01/01/2006 - 12/31/2007, $80,000 Current Year: Major Goals: Implement / develop clinical and educational programs for tansition into adulthood

for persons with disabilities

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Source and Identifying #: National Telecommunications and Information Administration Sub-contract from Minot State University Principal Investigator: G. Bradley Schaefer, MD Title: Flatlands Disabilities Network Role in Project: PI / Director Time/% Effort: 1% Dates and Costs of 10/01/05 - 09/30/07, $ 37,000 Entire Project: Dates and Costs of 10/01/06 - 09/30/07, $18,417 Current Year: Major Goals: Provide consultation and technical assistance via tele-medicine for Children with

Special health Care needs in North Dakota Source and Identifying #: Methodist Hospital Principal Investigator: G. Bradley Schaefer, MD Title: Clinical Genetics Support Role in Project: Director Time/% Effort: Dates and costs of FY 1991 - present. Cumulative $824,476 Entire Project: Dates and Costs of FY 2007 $70,417 Ongoing, yearly renewal. Current Year: Major Goals: Genetic counseling support for cancer genetics and perinatal genetics Source and Identifying #: Transkaryotic Therapies Corporation, Clinical Protocol TKT024EXT (BB-IND 9579) Principal Investigator: G. Bradley Schaefer, MD Title: Iduronate-2-Sulfatase Enzyme Replacement therapy in Mucopolysaccharidosis II

(MPSII) Role in Project: Principal Investigator Time/% Effort: 6% Dates and Costs of 06/01/2005 - ongoing, $258,155 Entire Project: Dates and Costs of 06/01/2006 - 05/31/2007 $70,367 Current Year: Major Goals: Provide local coordination of ERT therapy trial for patients with Hunter Syndrome Source and Identifying #: CDC Grant, Primary Award, Tulane University (sub-contract) Principal Investigator: Dawn Wesson Title: West Nile Virus Teratogenesis Role in Project: Clinical Geneticist Time/% Effort: Contract for Clinical Evaluations (per patient compensation) Dates and Costs of $16,000 Entire Project: Dates and Costs of $16,000 Current Year: Major Goals: Perform clinical genetic and developmental assessments of infants exposed to

maternal West Nile Virus Infection.

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Source and Identifying #: Sub-grant from Heartland Genetics Consortium (HRSA) Principal Investigator: Mark Fergesen Title: Adherence to National Clinical Guidelines for Down Syndrome Role in Project: Co-Investigator Time/% Effort: Match Dates and Costs of 06/01/2005 - 05/31/2007 $21,400 Entire Project: Dates and Costs of 06/01/2005 - 05/31/2006 $10,700 Current Year: Major Goals: Assess practitioners’ compliance with clinical guidelines for thyroid screening in

Trisomy 21 Source and Identifying #: Genzyme Corporation AGLU02704 Principal Investigator: G. Bradley Schaefer, MD Title: A Randomized Double-Blind, Multi-Center, Multinational, Placebo-Controlled Study

of the Safety, Efficacy, and Pharmacokinetics of Myozme in patients with Late-Onset Pompe Disease

Role in Project: Principal (site) Investigator Time/% Effort: 2% FTE Dates and Costs of 11/21/2006 - 10/31/2007 $28,628 Entire Project: Dates and Costs of 11/21/2006 - 10/31/2007 $28,628 Current Year: Major Goals: Coordinate ERT study Source and Identifying #: Shire Human Genetic Therapies, Inc. Principal Investigator: G. Bradley Schaefer, MD Title: An Open-Label Extension Study of TKT024 Evaluating Long-term Safety and

Clinical Outcomes in MPSII Patients Receiving Iduronate-2-Sulfatase Enzyme Replacement therapy.

Role in Project: Principal (site) Investigator Time/% Effort: NA Dates and Costs of 06/01 /2005 - 05/30/2007 $162,257 Entire Project: Dates and Costs of 06/01 /2006 - 05/30/2007 $81124 Current Year: Major Goals: Collaborative surveillance of patients with Hunter syndrome on ERT Source and Identifying #: Nebraska LB595 Cigarette Tax Cancer Prevention Act Principal Investigator: Kenneth Cowan Title: Studies on Genetic Counseling and Testing in Human Cancers. Clinical Genetics

Core. Role in Project: Director, Clinical Genetics Core Time/% Effort: 5% Dates and Costs of 10/01/99 - 09/30/08 $171,000

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Entire Project: Dates and Costs of 10/01/07 - 03/30/08 $24,000 Current Year: Major Goals: Establish, maintain and expand a clinical cancer genetics network as a resource

for investigators Source and Identifying #: HRSA Principal Investigator: G. Bradley Schaefer Title: Nebraska LEND Interdisciplinary Training Program (Competitive Renewal) Role in Project: Co -Principal Investigator Time/% Effort: 20 % Effort Dates and Costs of 07/01/04 - 06/30/09 $1,950,000 Entire Project: Dates and Costs of 07/01/07 - 06/31/08 $ 390,000 Current Year: Major Goals: Training of professional to become leaders in the community for provision of

services for persons with disabilities Source and Identifying #: Boystown National Research Hospital Principal Investigator: G. Bradley Schaefer, MD Title: Clinical Genetics Support Role in Project: Director Time/% Effort: Dates and costs of FY 1991 - present. Ongoing, yearly renewal. Cumulative $ 967,100 Entire Project: Dates and Costs of FY 2008 $64,000 Current Year: Major Goals: Provide clinical genetic and genetic counseling support. Director of Craniofacial

team Source and Identifying #: Children’s Hospital Principal Investigator: G. Bradley Schaefer, MD Title: Clinical Genetics Support Role in Project: Director Time/% Effort: Dates and costs of FY 1991 - present. Cumulative $1,208,881 Entire Project: Dates and Costs of FY 2008 $76,431 Ongoing, yearly renewal Current Year: Major Goals: Clinical Genetics and genetic counseling support. Director of Helmet Clinic

Source and Identifying #: USPHS Indian Health Service Principal Investigator: G. Bradley Schaefer Title: Service Contract - for Genetic, Behavioral, and Developmental services Role in Project: Coordinator Time/% Effort: Dates and costs of FY 2002 - present.. Cumulative $65,400

47

Entire Project: Dates and Costs of FY 2008 $10,000 Ongoing, yearly renewal Current Year: Major Goals: Provide genetic, behavioral, and developmental consultation to Winnebago PHS

Indian Hospital Source and Identifying #: Nebraska Departments of Education and Health & Human Services Principal Investigator: G. Bradley Schaefer Title: Telehealth Network for Children with Special Health Care Needs Role in Project: Principal Investigator Time/% Effort: 3% Dates and costs of 09/01/2004 - Present, Cumulative $ 275,820 Entire Project: Dates and Costs of 09/01/ 2007 - 08/31/2008 $55,200 Current Year: Major Goals: Establish gap-filling services via telehealth for CSHCN in Nebraska Source and Identifying #: University of Nebraska Administration, Programs of Excellence Principal Investigator: G. Bradley Schaefer, MD Title: Behavioral Genetics Program Role in Project: Principle Investigator Time/% Effort: NA Dates and Costs of (annual, recurring) Entire Project: Dates and Costs of $160,000 per year Current Year: Major Goals: Recruitment and retention of a director of behavioral genetics program Source and Identifying #: Genzyme Corporation AGLU02704 Principal Investigator: G. Bradley Schaefer, MD Title: An Open Label Extension Study of Patients with late-onset Pompe Disease

previously Enrolled in Protocol AGLU02704 Role in Project: Principal (site) Investigator Time/% Effort: 2% FTE Dates and Costs of 03/28/07 - 03/27/2008 $30,451 Entire Project: Dates and Costs of 03/28/07 - 03/27/2008 $30,451 Current Year: Major Goals: Coordinate ERT study Source and Identifying #: Sub-grant from Heartland Genetics Consortium (HRSA) Principal Investigator: Beth Conover Title: Regional Teratogen Information Services Education and Consultation Role in Project: Co-PI Time/% Effort: Match Dates and Costs of 03/01/2007 - 06/30/2008 $15,000

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Entire Project: Dates and Costs of 03/01/2007 - 06/30/2008 $15,000 Current Year: Major Goals: Develop, update and collate TIS information sheets. Make information sheets

regionally available by binders, CD’s and Web sites Source and Identifying #: Shire Human Genetic Therapies, Inc. Principal Investigator: G. Bradley Schaefer, MD Title: Hunter Outcome Survey : A Global Multi-center, Long-term, Observational Survey

of Patients with hunter Syndrome (Mucopolysaccharidoses II) Role in Project: Principal (site) Investigator Time/% Effort: NA Dates and Costs of 06/01 /2007 - 05/30/2008 $6,300 Entire Project: Dates and Costs of 06/01 /2007 - 05/30/2008 $6,300 Current Year: Major Goals: Collaborative surveillance of patients with Hunter syndrome on ERT Source and Identifying #: Genzyme Principal Investigator: G. Bradley Schaefer, MD Title: Myozyme Temporary Access Program Role in Project: Local PI Time/% Effort: 2% Dates and Costs of 04/08/2008 - 04/07/2009 $14,000 Entire Project: Dates and Costs of 04/08/2008 - 04/07/2009 $14,000 Current Year: Major Goals: Coordinate Myozyme infusion protocols for Late Onset Pompe disease Source and Identifying #: T32 DK061921 Principal Investigator Didier Portilla, MD Title: Training Program in the Pathophysiology of Kidney Diseases Role in Project: Collaborator and Co-mentor Time/% Effort: 0% (in kind) Dates and costs of Entire Project: 09/01/2006-08/31/2011 $894,505 (my participation began Jun 2008) Dates and Costs of Current Year: 09/01/2010-08/31/2011 $131,065.00 Major Goals: The goals for the trainees upon completion of the program are: -Preparation to become independent and productive investigators,

including having a depth of competence in experimental skills and techniques to study the pathophysiology of renal diseases

-Development of critical thinking for evaluating one’s own research project and research from other labs and for problem-solving.

-Acquisition of background and knowledge in the current challenges facing the scientific and medical community in understanding and treating kidney disease with an in-depth focus on new therapies related to the trainee’s

49

research project. Source and Identifying #: HRSA #1 T73MC11045 Principal Investigator: Eldon Schulz Title: Arkansas LEND Project Role in Project: Core Discipline director Time/% Effort: 10% Dates and costs of 09/01/2008 – 08/31/2011 $1,650,000 Entire Project: Dates and Costs of 09/01/2010 – 08/31/2011 $ 550,000 Current Year: Major Goals: Training of professional to become leaders in the community for

provision of services for persons with disabilities Source and Identifying #: CDC #1U84DD000446-01 Principal Investigator: Mark Mengel Title: Midwest FAS Regional Training Center Role in Project: Dysmorphologist / consultant Time/% Effort: 3% Dates and costs of 09/30/08 to 09/29/11 $346,964 Entire Project: Dates and Costs of 09/30/10 to 09/29/11 $1,040,892 Current Year: Major Goals: Provide regional education to health care providers regarding Fetal Alcohol

Spectrum disorders: recognition, prevention and education Source and Identifying #: HRSA #U22MC03962-07 Principal Investigator: G. Bradley Schaefer Title: Heartlands Regional Genetics Collaborative Role in Project: Project director Time/% Effort: 10% Dates and costs of 06/01/2010 – 05/31/2012 $160,000 Entire Project: Dates and Costs of 06/01/2011 – 05/31/2012 $79,954 Current Year: Major Goals: Coordinate collaborative efforts for clinical genetics in an 8 state region Source and Identifying #: CDC, Centers for Birth Defects Research and Prevention (CBDRPs)

#1U01DD000491-01 Principal Investigator: Charlotte Hobbs Title: National Birth Defects Prevention Study Role in Project: Clinical Geneticist / Case Classifier Time/% Effort: 5% Dates and costs of Entire Project: 12/1/08 – 11/30/2013; $5,000,000 Total ($4,000,000 Direct Costs, $1,000,000 F&A)

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Dates and Costs of Current Year: 12/1/12 – 11/30/2013; $1,000,000 Total ($800,000 Direct Costs) Major Goals: Continue Arkansas’ participation in the CDC’s National Birth Defects Prevention Study and help the Center continue to conduct cutting-edge surveillance. CURRENT FUNDING Source and Identifying #: Department of Genetic Counseling UAMS Principal Investigator: Douglas Murphy Title: Mid-America Genetics Distance Education Consortium Role in Project: Medical Director Time/% Effort: 3% Dates and costs of Ongoing; $10,000 per year. Cumulative to date $70,000 Entire Project: Dates and Costs of 07/01/2014 - 06/30/2015 $10,000 Current Year: Major Goals: Provide administrative direction and oversight of training program Source and Identifying #: Arkansas Medicaid Principal Investigator: Curtis Lowery Title: ANGELS Role in Project: Director – Newborn screening component Time/% Effort: 10% Dates and costs of 07/01/2009 – yearly renewal. Cumulative to date $12.6 million Entire Project: Dates and Costs of 07/01/2014 – 06/30/2015 $2.06 million Current Year: Major Goals: Develop, coordinate and implement long-term follow up for conditions on the

Arkansas NBS panel Source and Identifying #: University of Kansas Medical School (Wichita branch) Principal Investigator: G. Bradley Schaefer, MD Title: Principal contractor Role in Project: Clinical geneticist Time/% Effort: 5% Dates and costs of Begin 2009 – 2010 Ongoing; $50,000 per year. Cumulative to date $300,000 Entire Project: Dates and Costs of 2014 – 2015 $50,000 Current Year: Major Goals: Provide clinical genetic educational and clinical services via telemedicine to the UKMS Wichita branch Source and Identifying #: HRSA # 2 T73 MC11045−04−00 Principal Investigator: Eldon Schulz

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Title: Arkansas LEND Project Role in Project: Core Discipline director Time/% Effort: 5 % Dates and costs of Entire Project: Dates and Costs of Current Year: Major Goals: Training of professional to become leaders in the community for provision of

services for persons with disabilities Source and Identifying #: HRSA 1 H46MC24089-01-00 Principal Investigator: G. Bradley Schaefer Title: Heartlands Regional Genetics Collaborative Role in Project: Project director Time/% Effort: 10% Dates and costs of 06/01/2012 - 05/31/2017 $2,993,000 Entire Project: Dates and Costs of 06/01/2014 - 05/31/2015 $600,000 Current Year: Major Goals: Coordinate collaborative efforts for clinical genetics in an 8 state region Source and Identifying #: CDC (National Center on Birth Defects and Developmental Disabilities) # 1U01DD001039-01 Principal Investigator: Charlotte Hobbs Title: BD STEPS Role in Project: Clinical Reviewer Time/% Effort: 2.5% (Year 1), 5% (Years 2-5) Dates and costs of 08/01/2013 – 07/31/2018 $1,750,000 (local site) Entire Project: Dates and Costs of 08/01/2014 – 07/31/2015 $350,000 (local site) Current Year: Major Goals: Identify modifiable maternal exposures in early pregnancy that may increase the risk of birth defects

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SUBMITTED FOR FUNDING Source and Identifying #: Principal Investigator: Title: Role in Project: Time/% Effort: Dates and costs of Entire Project: Dates and Costs of Current Year: Major Goals: