CURRICULUM VITAE Arti Pandya, M.D., M.B.A. · and Bruce Korf 2013,1-38 3. K. A. Arnos, K.O. Welch and A. Pandya. “Epidemiology, Etiology, Genetic Mechanisms, and Genetic Counseling”

March 2015

CURRICULUM VITAE

Arti Pandya MD MBA EDUCATION Sept 1996 - May 1998 MBA School of Business Virginia Commonwealth University Aug 1991 - July 1992 Postdoctoral Fellow Department of Microbiology amp Immunology Medical

College of Virginia July 1989 ndash June 1991 Pediatric Residency St Louis Childrenrsquos Hospital Washington University

St Louis MO Aug 1987 - June 1989 Clinical Genetics Fellowship Childrens Hospital of Los Angeles Univ of

Southern California CA ug 1991 - July 1992

Jan1987 - April 1987 Clinical attachment at Willink Metabolic Unit Royal Childrens Hospital Manchester UK with Dr I B Sardharwala

Mar 1984 - Jan 1986 Residency (PGY-2 and PGY-3) in Pediatric Genetics KEM Hospital

Bombay India Mar 1983 - Feb 1984 Pediatric PGY-1 year at Bai Jerbai Wadia Childrenrsquos Hospital Bombay

India Dec 1981 ndash Dec 1982 Rotating Internship at KEM Hospital

Aug 1977 ndash Oct 1981 MBBS Seth GS Medical College and KEM Hospital Bombay India Mar 1976 ndash Mar 1977 Higher Secondary Certificate (HSC) Jai-Hind College Bombay

University Bombay India 52 Residency Training

PROFESSIONAL EXPERIENCE ndash EMPLOYMENT HISTORY Nov 2014 - Present Associate Professor (tenured) and Chief Division of Genetics and

Metabolism Department of Pediatrics University of North Carolina ndash Chapel Hill

Dec 2015 ndash Present Clinical Associate Professor Department of Genetics University of North

Carolina- Chapel Hill July 2004 ndash Nov 2014 Associate Professor tenured Department of Human amp Molecular

Genetics Pediatrics amp Pathology Virginia Commonwealth University Richmond VA

A Pandya MD 2

Mar 1998 ndash June 2004 Assistant Professor tenure track Departments of Human Genetics and Pediatrics Virginia Commonwealth University Richmond VA

June 1994 ndash Feb 1998 Assistant Professor collateral non-tenure tract Department of Human

Genetics Virginia Commonwealth University Richmond VA Aug 1992 ndash May 1994 Research Associate Department of Human amp Molecular Genetics

Virginia Commonwealth University Richmond VA July 1991 ndash July 1992 Clinical Instructor Department of Human amp Molecular Genetics Virginia

Commonwealth University Richmond VA Jan 1986 ndash Nov 1986 Instructor in Pediatrics RN Cooper Municipal Hospital Bombay

University India HONORS AND AWARDS 2014 Voted best clinical geneticist (received highest votes in Category)

Richmond Magazine 2013 Voted best clinical geneticist with highest votes by Richmond Magazine 2010 - 2012 Voted best clinical geneticist by Richmond Magazine 2008 ndash 2009 Outstanding Teacher Certificate Award for high evaluation in M-1 Human

Genetic course VCU 2003 ndash 2004 Outstanding Teacher Certificate Award for high evaluation in M-1 Human

Genetics course VCU 2002 ndash 2003 Outstanding Teacher Certificate Award for high evaluation in Human

Genetics course VCU 2001 ndash 2002 Annual Pediatric Clerkship teaching award for excellence in teaching

nominated by the students VCU Oct 1985 Awarded Dr MP Bhagat Gold Medal for Ranking 1st in Pediatric Boards

University of Bombay India April 1980 Distinction in Preventive and Social Medicine 2nd MBBS Examination

University of Bombay India Oct 1978 Distinction in Anatomy 1st MBBS Examination University of Bombay

1975 1977 Distinction in HSC and SSC Examinations Bombay India BIBLIOGRAPHY

A Pandya MD 3

Books Chapters 1 Pandya A Nonsyndromic Hearing Loss and Deafness Mitochondrial Gene Reviews update

Edited by Roberta A Pagon editor-in-chief Margaret P Adam Holly H Hardinger Thomas D Bird Cynthia R Dolan Chin-To Fung Richard JH Smith and Karen Stephens Seattle (WA) University of Washington Seattle1993-2015 Available from httpwwwncbinlmnihgovbooksNBK1116 2014

2 R E Falk and A Pandya ldquoHereditary Hearing Impairmentrdquo Chapter 142 in Emery and Rimoins Principles and Practice of Medical Genetics Editors David L Rimoin Reed E Pyeritz and Bruce Korf 20131-38

3 K A Arnos KO Welch and A Pandya ldquoEpidemiology Etiology Genetic Mechanisms and

Genetic Counselingrdquo Chapter in Hereditary Hearing Loss and its Syndromes Third edition Edited by Helga V Toriello and Shelley D Smith 2013 4-12

4 Arnos K and Pandya A Advances in Genetics of Hearing Loss In Handbook of Deaf

Studies Language and Education Marschark M Spencer P eds Oxford Univ Press 2003 2006 2010 412-424

5 Arnos KS amp Pandya A Genetic Causes of Deafness In Schwartz S (Ed) Choices in

Deafness 3rd Edition Bethesda MD Woodbine House pp 79-96 2007 6 Pandya A and Nance WE Genetics of Hearing Loss In Medical Otology and Neurotology

Mohamed A Hamid and Aristides Sismanis eds Thieme Medical Publishers 2005 11-20 7 Arnos K and Pandya A Genes for Deafness and the Genetics Program at Gallaudet

University In Genetics Disability and Deafness John Vickrey Van Cleve eds Gallaudet Univ Press 2004 111-126

8 Nance WE and Pandya A Genetic Epidemiology of Deafness In Genetics and Auditory

Disorders Keats B Popper AN Fay RR eds Springer-Verlag New York 2001 67-91 9 Jackson-Cook Colleen Pandya A Strategies and Logistical Requirements for Efficient

Testing in Genetic Disease Clinics in Laboratory Medicine vol 154 Dec 1995 839-857 10 Pandya A Diagnostic approach to mental retardation Pediatric Clinics of India vol 1

Bharucha BA Kher A editors 1994 5-12 Refereed PapersArticles 1 Yuri Zarate Constance Smith-Hicks Carol Greene Mary-Alice Abott Victoria Siu Amy

Calhoun Arti Pandya Chumei Li Elizabeth Sellars Julie Kaylor Katie Bosanko Louisa Kalsner Alice Basinger Anne Slavotinek Hazel Perry Margarita Saenz Marta Szybowska Louise Wilson Ajith Kumar Caroline Brain Meena Balasubramanian Holly Dubbs Xilma Ortiz-Gonzales Elaine Zakai Quinn Stein Cynthia Powell Samantha Schrier Vergano Alisson Britt ldquoNatural History and Genotype- Phenotype correlations in 72 individuals with SATB2- Associated syndromerdquo- submitted Dec 2017

2 Natario L Couser Daniel S Marchuk Laurie D Smith Alexandra Arreola Kathleen A Kaiser Rogers Joseph Muenzer Arti Pandya Muge G Calikoglu Cynthia M Powell Concomitant

A Pandya MD 4

Down Syndrome and SUCLA2-Related Mitochondrial Depletion Syndrome 1

Am J Med Genet A 2017 Oct173 (10)2720-2724 doi 101002ajmga38351 Epub 2017 Jul 27

3 Arti Pandya Genetic Hearing Loss The Journey of Discovery to Destination ndash How close are we to Therapy Invited commentary Medical Genetics and Genomic Medicine 2016 November pg 583-587 doi 101002mgg3260

1 Raye L Alford Kathleen S Arnos Michelle Fox Jerry W Lin Christina G Palmer Arti Pandya Heidi L Rehm Nathaniel H Robin Daryl A Scott Christine Yoshinaga-Itano American College of Medical Genetics and Genomics Guidelines for the Clinical Evaluation and Etiologic Diagnosis of Hearing Loss ACMG Working Group on Update of Genetics Evaluation Guidelines for the Etiologic Diagnosis of Congenital Hearing Loss for the Professional Practice and Guidelines Committee (in alphabetical order) Genetics in Medicine 2014 April16(4)347-355

2 Yelverton JC Dodson KM Arnos K Pandya A The clinical and audiologic features of hearing loss due to mitochondrial mutations response to editor Otolaryngology Head and Neck Surgery 2013 Nov 149 (5) 795-6

3 Yelverton J C Arnos K Xia XJ Nance W E Pandya A Dodson K M The clinical and audiologic features of hearing loss due to mitochondrial mutations Otolaryngology Head and Neck Surgery 2013 June 148 (6)1017-22

4 Yelverton JC Dominguez LM Chapman DA Wang S Pandya A Dodson KM Risk factors associated with unilateral hearing loss JAMA Otolaryngol Head Neck Surg 2013 Jan 139 (1)59-63

5 Diaz-Horta O Sirmaci A Doherty D Nance W Arnos K Pandya A Tekin M GPSM2 mutations in Chudley-McCullough syndrome Am J Med Genet A 2012 Nov 158A (11)2972-3 Epub 2012 Sep 14

6 Juusola JS Anderson P Sabato F Wilkinson DS Pandya A Ferreira-Gonzalez A Performance evaluation of two methods using commercially available reagents for PCR-Based detection of FMR1 mutation J Molecular Diagnostics 2012 Sept 14(5)476-86

7 Dodson Kelley M Georgolios Alexandros Barr Noelle Nguyen Bich Sismanis Aristides Arnos Kathleen S Norris Virginia W Chapman Derek Nance Walter E Pandya Arti Etiology of Unilateral Hearing Loss in a National Hereditary Deafness Repository American Journal of Otolaryngology 2012 Sept-Oct 33(5)590-4 Epub 2012 Apr 24

8 Huddle LN Fuller C Powell T Hiemenga JA Yan J Deuell B Lyders EM Bodurtha JN Papenhausen PR Jackson-Cook CK Pandya A Jaworski M Tye GW Ritter AM Intraventricular twin fetuses in fetu J Neurosurg Pediatr 2012 Jan 9(1)17-23

9 Chapman DA Stampfel CC Bodurtha JN Dodson KM Pandya A Lynch KB Kirby RS Impact of co-occurring birth defects on the timing of newborn hearing screening and diagnosis Am J Audiol 2011 Dec 20(2)132-9 Epub 2011 Sep 22

10 Sandhu B Vitazka P Ferreira-Gonzalez A Pandya A Vachhani R Bouhaidar D Zfass A Sanyal A Presence of SPINK-1 variant alters the course of chronic pancreatitis J Gastroenterol Hepatol 2011 Jun 26(6)965-9 doi 101111j1440-1746201106713x

11 Pandya A Nonsyndromic Hearing Loss and Deafness Mitochondrial GeneReviewsTM at the GeneTests-GeneClinics Web site at httpwwwncbinlmnihgovbooksNBK1422 Initial Posting October 22 2004 Last Update April 21 2011

A Pandya MD 5

12 Rendtorff ND Lodahl M Boulahbel H Johansen IR Pandya A Welch KO Norris VW Arnos KS Bitner-Glindzicz M Emery SB Mets MB Fagerheim T Eriksson K Hansen L Bruhn H Moumlller C Lindholm S Ensgaringrd S Lesperance MM Tranebjaeligrg L Missense mutations in WFS1 cause isolated autosomal dominant inherited optic atrophy and hearing loss in seven families and one sporadic case Am J Med Genet A 2011 Jun155A(6)1298-313

13 Dodson KM Blanton SH Welch KO Norris VW Nuzzo RL Wegelin JA Marin RS Nance WE Pandya A Arnos KS Vestibular dysfunction in DFNB1 deafness Am J Med Genet A 2011 May155(5)993-1000

14 Tekin M Xia-Juan X Erdenetungalag R Cengiz BF White T Radnaabazar J Dangaasuren B Tastan H Nance W Pandya A GJB2 mutations in Mongolia Complex alleles Low frequency and reduced fitness of the deaf Ann Hum Genet Mar 74(2)155-64 2010

15 Wilch E Azaeiz H Fisher R Elfenbein J Murgia A BirkenHager R Bolz H da Silva Coata SM del Castillo I Haaf T Hoefsloot L Kremer H Kubisch C Le Marechal Pandya A Sartorato E Schneider E van Camp G Wuyts W Smith RJH Friderici K A Novel DFNB1 deletion allele indicated that missing GJB2 mutations may be cis-regulatory and distant Clinical Genetics Sep78(3)267-74 2010

16 Blanton SH Nance WE Norris VW Welch KO Burt A Pandya A Arnos KS Fitness among individuals with early childhood deafness studies in alumni families from Gallaudet University Ann Hum GenetJan 74(1)27-33 2010

17 Withrow KA Tracy KA Burton SK Norris VW Maes HH Arnos KS Pandya A Provision of Genetic Services for Hearing Loss Results from a National Survey and Comparison to Insights Obtained from Previous Focus Group Discussions J Genet Counsel 2009 Dec18(6)618-21 Epub 2009 Oct 2

18 Withrow KA Tracy KA Burton SK Norris VW Maes HH Arnos KS Pandya A Impact of Genetic Advances and Testing for Hearing Loss Results from a National Consumer Survey Am J Med Genet Part A 149A1159-1168 2009

19 Anum EA Hill LD Pandya A Strauss JF III Connective Tissue and Related Disorders and Preterm Birth Clues to Genes Contributing to Prematurity Placenta 209-215 2009

20 Hilgert N Huentelman MJ Thorburn AQ Fransen E Dieltjens N Mueller-Malesinska M Pollak A Skorka A Waligora J Ploski R Castorina P Primignani P Ambrosetti U Murgia A Orzan E Pandya A Arnos K Norris V Seeman P et al Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene Eur J Hum Genet Apr 17(4) 517-24 2009 Epub Nov 5th 2008

21 Arnos KS Welch KO Tekin M Norris VW Blanton SH Pandya A Nance WE A Comparative Analysis of the Genetic Epidemiology of Deafness in the United States in Two Sets of Pedigrees Collected More than a Century Apart AJHG 83200-207 Aug 2008

22 Withrow KR Burton S Arnos KS Kalfoglou A Pandya A (published online 2508) Consumer motivations for pursuing genetic testing and their preferences for the provision of genetic services for hearing loss Journal of Genetic Counseling 17(3) 252-60 June 2008

23 Welch KO Marin R Pandya A Arnos KS Compound Heterozygosity for Dominant and Recessive GJB2 Mutations Effect on Phenotype and Review of the Literature Am J Med Genet 143A 1567-1573 2007

24 Amir S Heisey C Zhang M Xia-Juan X Shows KH Ajlouni K Pandya A Satin LS El-Shanti H Shiang RA Homozygous Mutation in a Novel Zinc-Finger Protein ERIS is responsible for Wolfram Syndrome 2 AJHG Vol 81673-683 Oct 2007

25 Pandya A Arnos KS Genetic evaluation and counseling in the context of early hearing detection and intervention Semin Hear 27(3)205-212 Aug 2006

A Pandya MD 6

26 Burton SK Withrow K Arnos KS Kalfoglou AL Pandya A A focus group study of consumer attitudes toward genetic testing and newborn screening for deafness Genetics in Medicine Vol 8 (12)779-783 Dec 2006

27 Norris VW Arnos KS Hanks WD Xia XJ Nance WE Pandya A Does Universal Newborn hearing Screening identify all Children with GJB2 (Connexin 26) deafness Penetrance of GJB2 deafness Ear Hear 27(6)732-741 Dec 2006

28 Burton SK Blanton SH Culpepper B White KR Pandya A Nance WE Arnos KS Education in the genetics of hearing loss a survey of early hearing detection and intervention programs Genetics in Medicine 8(8)510-17 Aug 2006

29 Duman T Arican ST Yilmaz ST Kupka S Pandya A Akar N Incesulu A Tekin M Mitochondrial DNA Alterations involving position 961 are not sufficient to explain sensorineural hearing loss Mediterranean Journal of Otology 1(3)110-116 November 2005

30 Liu XZ Pandya A Angeli S Telischi FF Arnos KS Nance WE Balkany T Audiological features of GJB2 (connexin 26) deafness Ear Hear Jun26(3)361-9 2005

31 Yan D Ke X Blanton SH Ouyang XM Pandya A Du LL Nance WE Liu XZ A novel locus for autosomal dominant non syndromic deafness DFNA53 maps to chromosome 14q112-q12 J Med Genet Jun 17 2005

32 del Castillo FJ Rodriacuteguez-Ballesteros M Aacutelvarez A Hutchin T Leonardi E Azaiez E Brownstein Z Chamberlin GP Marlin S Pandya A Shahin H Siemering K R Wuyts W Aguirre L Martiacuten Y Moreno-Pelayo MA Villamar M Avraham KB Dahl HHM Kanaan M Nance WE Petit C Smith RJH Camp GV Murgia A Moreno F and del Castillo I A Novel Deletion Involving the Gene Encoding Connexin-30 del(GJB6-D13S1854) Found in trans with Mutations in the GJB2 Gene (Connexin-26) in Subjects with Autosomal Recessive Non-Syndromic Hearing Impairment J Med Genet Jul42(7)588-94 2005

33 Pandya A Non Syndromic Mitochondrial Hearing Loss GeneReviewsTM at the GeneTests-GeneClinics Web site at httpwwwgeneclinicsorg (2003-2005)

34 Yan D Park HJ Ouyang XM Pandya A Doi K Erdenetungalag R Du LL Matsushiro N Nance WE Griffith AJ Liu XZ Evidence of a founder effect for the 235delC mutation of GJB2 (connexin 26) in East Asians Hum Genetics Dec 114(1)44-50 2003

35 Rubal PA Pandya A Foley D Vanner Nicely L Arnos KS Attitudes of Deaf Individuals Towards Genetic Testing Am J Med Genet 2003

36 del Castillo I Moreno-Pelayo MA del Castillo FJ Brownstein Z Marlin S Adina Q Cockburn DJ Pandya A Siemering KR et al Prevalence and Evolutionary Origins of the del (GJB6-D13S1830) Mutation in the DFNB1 locus in Hearing Impaired Subjects A Multicenter Study Am J Hum Genet 731452-1458 2003

37 Pandya A Arnos KS Xia X-J Welch KO Blanton SH Friedman TB Garcia SG Liu XZ Morell R Nance WE Frequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probands Genetics in Medicine JulyAugust 5(4)295-303 2003

38 Liu XZ Ouyang XM Xia XJ Zheng J Li F Pandya A Du LL Corey D Welch KO Petit C Smith RJH Webb T Arnos KS Dallos P Balkany T Nance WE Chen ZY Prestin a cochlear motor protein is defective in non-syndromic hearing loss Hum Mol Genet May 15 12(10)1155-1162 2003

39 Park HJ Shaukat S Liu XZ Hahn S Naz S Ghosh M Kim HN Moon SK Abe S Tukamoto K Riazuddin S Kabra M Erdenetungalag R Radnaabazar J Khan S Pandya A Usami S Nance WE Wilcox E Riazuddin S Griffith A SLC26A4 (PDS)

A Pandya MD 7

mutations in East and South Asians implications for the global epidemiology of deafness J Med Genet 40 242-248 2003

40 Welch KO Tekin M Nance WE Arnos KS Pandya A Chudley-McCullough Syndrome Expanded Phenotype and Review of the Literature Am J Med Genet 119A71-76 2003

41 Cabral WA Mertts MV Makareeva E Colige A Tekin M Pandya A Leikin S Marini JC Type I Collagen Triplet Duplication Mutation in Lethal Osteogenesis Imperfecta Shifts Register of alpha Chains throughout the Helix and Disrupts Incorporation of Mutant Helices into Fibrils and Extracellular Matrix J Biol Chem 21 278(12)10006-10012 Mar 2003

42 Blanton SH Liang CY Cai MW Pandya A Du LL Landa B Mummalanni S Li KS Chen Z Y Qin XN Liu YF Nance WE Liu XZ A novel Locus for autosomal dominant non-syndromic deafness (DFNA41) maps to chromosome 12q24-qter J Med Genet 39(8)567-570 Aug 2002

43 Ouyang XM Xia XJ Verpy E Du LL Pandya A Petit C Balkany T Nance WE Liu XZ Mutations in the alternatively spliced exons of USH1C cause non-syndromic recessive deafness Hum Genet 111(1)26-30 July 2002

44 Stern SJ Arnos KS Murrelle L Welch KO Nance W E Pandya A Attitudes of deaf and hard of hearing subjects towards genetic testing and prenatal diagnosis of hearing loss J Med Genet 39(6)449-453 June 2002

45 Liu XZ Xia XJ Adams J Chen ZY Welch KO Tekin M Ouyang XM Kristiansen A Pandya A Balkany T Arnos KS Nance WE Mutations in GJA1 (connexin 43) are associated with non-syndromic autosomal recessive deafness Hum Mol Genet 110(25)2945-2951 Dec 2001

46 Tekin M Jackson-Cook C Pandya A De Novo Inverted Tandem Duplication of the Short Arm of Chromosome 12 in a patient with Microblepheron Am J Med Genet 15104(1)42-46 Nov 2001

47 Tekin M Bodurtha JN Nance WE Pandya A Waardenburg syndrome type 3 (Klein-Waardenburg syndrome) segregating with a heterozygous deletion in the paired box domain of PAX3 a simple variant or a true syndrome Clin Genet 60(4)301-304 Oct 2001

48 Tekin M Arnos KS Pandya A Review of Advances in Hereditary Deafness Guide for Clinicians Lancet invited review 358(9287)1082-1090 Sep 2001

49 Lu K Lee MH Hazard S Brooks-Wilson A Hidaka H Kojima H Ose L Stalenhoef AF Mietinnen T Bjorkhem I Bruckert E Pandya A Brewer HB Jr Salen G Dean M Srivastava A Patel SB Two genes that map to the STSL locus cause sitosterolemia genomic structure and spectrum of mutations involving sterolin-1 and sterolin-2 encoded by ABCG5 and ABCG8 respectively Am J Hum Genet 69(2)278-290 Aug 2001

50 Liu XZ Blanton SH Bitner-Glindzics M Pandya A Landa B MacArdle B Rajput K Bellman S Webb BT Ping X Smith RJH Nance WE Haplotype analysis of the USHID locus and genotype-phenotype correlations Clinical Genetics 60(1)58-62 July 2001

51 Ben-Yosef T Wattenhofer M Riazuddin S Ahmed Z M Scott HS Kudoh J Shibuya K Antonarakis SE Bonne-Tamir B Radhakrishna U Naz S Pandya A Nance WE Wilcox ER Friedman TB Morell RJ Novel mutations of TMPRSS3 in four DFNB8B10 families segregating congenital autosomal recessive deafness J Med Genet 38(6)396-400 June 2001

52 Lee MH Gordon D Ott J Lu K Ose L Miettinen T Gylling H Stalenhof AF Pandya A Hidaka H Brewer J Kojima BH Sakuma N Pegoraro R Salen G Patel SB Fine mapping of a gene responsible for regulating dietary cholesterol absorption founder

A Pandya MD 8

effects underlie cases of phytosterolemia in multiple communities Eur Hum Genet 9(5)375-384 May 2001

53 Tekin M Akar N Cin S Blanton SH Xia XJ Liu XZ Nance WE Pandya A Connexin 26 (GJB2) mutations in the Turkish Population implications for the origin and high frequency of the 35delG mutation in Caucasians Human Genetics 108(5)385-389 May 2001

54 Amann ST Gates LK Aston CE Pandya A Whitcomb DC Expression and penetrance of the hereditary pancreatitis phenotype in monozygotic twins Gut 48(4)542-547 Apr 2001

55 Tekin M Arnos KS Xia XJ Oelrich K Liu XZ Nance WE Pandya A W44C mutation in the connexin 26 gene associated with dominant non-syndromic deafness Clinical Genet 59(4)269-273 Apr 2001

56 Fleck BJ Pandya A Vanner L Kerkering K Bodurtha J Coffin-Siris syndrome review and presentation of new cases from a questionnaire study Am J Med Genet 15 99(1)1-7 Review Feb 2001

57 Tekin M Jackson-Cook C Buller A Ferreira-Gonzalez A Pandya A Garrett CT Bodurtha J FISH Detectable Mosaicim for Angelman Syndrome with Biparental Methylation AJMG 95145-149 2000

58 Buller A Pandya A Jackson-Cook C Bodurtha J Tekin M Wilkinson DS Garrett CT Ferreira-Gonzalez A Validation of a multiplex Methylation -Sensitive PCR Assay for the Diagnosis of Prader-Willi and Angelman Syndromes Mol Diagn 5(3)239-243 Sept 2000

59 Nance WE Liu XZ Pandya A Hypothesis Assortative Mating is the Cause for the High Frequency of Connexin-26 Deafness Lancet 356500-501 Aug 2000

60 Pandya A Nance Walter E Reply to Loacutepez-Bigas et al - Editorial AJHG 661467 March 2000

61 Nye Jeffrey S Hayes EA Amendola M Vaughn D Charrow J McLone DG Nance WE Pandya A Myelocystocele-Cloacal Extrophy in a Pedigree with a Mitochondrial 12S rRNA Mutation Aminoglycoside- induced Deafness Pigmentary Disturbances and Spinal Anomalies Teratology 61165-171 March 2000

62 Liu Xue-Zhong Xia Xia-Juan Xu Li Rong Pandya A Liang Chuan Yu Blanton Susan H Brown Steve DM Steel Karen P and Nance Walter E Mutations in connexin 31 underlie recessive as well as dominant non-syndromic hearing loss Human Molecular Genetics Vol 9 No1 63-87 Jan 2000

63 Blanton SH Pandya A Landa BL Javaheri R etal Fine Mapping of the Human Biotinidase gene and Haplotype Analysis of Five common mutations Human Heredity 50102-111 2000

64 Pandya A Xia Xia-Juan Raadnabazar Erdenetungalag Amendola Michael Landa Barbara Batsuri Jamijam Dangaansuren Begzsuren Van TuyleGlenn Nance Walter E Heterogenous point mutation in the 3 end of tRNA ser (UCN) precursor coexisting with the pathogenic A1555G mutation in the 12SrRNA gene in deaf students from Mongolia Am J Hum Genet 651803-1806 Dec 1999

65 Marcus Dennis M Papastergiou Georgios I Patel Milan Pandya A Brooks Steven E Discordant Retinoblastoma in Monozygotic Twins Am J of Ophthalmology 128524-526 Oct 1999

66 Pandya A Xia XJ Blanton SH Landa B Markello T and Nance WE Implications of Molecular Diagnostic Testing in Families with Hereditary Pancreatitis Genetic Testing 13207-211 19971998

A Pandya MD 9

67 DeStefano Anita L Cupples Adrienne L Arnos KS Asher Jr JH Baldwin CT Halloran-Blanton S Carey M da-Silva EO Friedman TB Greenburg J Milunsky A Morell R Nance WE Pandya A Ramesar R Read AP Tassabehji M Wilcox ER Farrer LA Correlation between Waardenburg Syndrome phenotype and genotype in a population of individuals with identified PAX3 mutations Hum Gen 102(5)499-506 May 1998

68 Pomponio RJ Hymes J Pandya A Landa B Melone P Javaheri R Mardach R Morton SW Meyers GA Reynolds T Buck G Nance WE Wolf B Prenatal Diagnosis of Biotinidase Deficiency by Enzymatic and Molecular Analysis Prenat Diagn 18 (2) 117-122 Feb 1997

69 Pandya A Xia X Radnaabazar J Batsuuri J Dangaansuren B Odgerel D Fischel-Ghodsian N Nance WE Mutations in the Mitochondrial 12S rRNA gene in two families from Mongolia with Matrilineal Aminoglycoside Ototoxicity J of Med Genet 34 No2 169-172 1997

70 Pandya A Halloran Blanton S Landa B Javaheri R Melvin E Nance WE and Markello T Linkage studies in a large kindred with Hereditary Pancreatitis confirms mapping of the gene to a 16 cM region on 7q Genomics 38227-230 1996

71 Boone C Markello T Jackson-Cook C Pandya A Partial trisomy 10 mosaicism with cutaneous manifestations Report of a case and review of the literature Clinical Genetics 50 No 5 417-421 1996

72 Pandya A X Xia Landa BL Arnos KS Israel J Lloyd J James AL Diehl SR Blanton SH and Nance WE Phenotypic variation in Waardenburg syndrome mutational heterogeneity modifier genes or polygenic background Hum Mol Genet 5(4)497-502 1996

73 Pandya A Braverman N Pyeritz RE Ying KL Kline AD Falk RA Interstitial deletion of the long arm of chromosome 6 with unusual limb anomalies Report of two new patients and review of the literature Am J Med Genet 59 No1 38-431995

74 Lebman DA Park MJ Bundy Sherri Hansen and Pandya A Mechanism for Transforming Growth Factor α Regulation of β mRNA in Lipopolysaccharide - stimulated B cells International Immunology 6No1 113-119 1994

75 Pandya A Koch R Hommes FA Williams JC N-Acetylglutamate Synthetase Deficiency Clinical and Laboratory Observations Journal of Inherited Metabolic Disease 14685-690 1991

76 Di Silvestre D Pandya A Koch R Groffen John DNA Haplotype Analysis of Patients with Hyperphenylalaninemia The American Journal of Human Genetics 47706-712 Oct 1990

77 Joshi RM Kagalwala TY Bharucha BA Vaidya VU Pandya AL Parikh AP Kumta NB Wilsons disease (a study of 12 cases) Indian J Gastroentero 6(4)227-228 Oct1987

78 Vaidya VU Bharucha BA Kagalwala TY Pandya AL Kumta NB Farbers Lipogranulomatosis Indian Pediatr 24(8)673-675 Aug 1987

79 Kagalwala TY Vaidya VU Bharucha BA Pandya AL Kumta NB Cavernous Hemangiomas of the liver and spleen Indian Pediatr 24(5)427-430 May 1987

80 Joshi RM Pandya A Bharucha BA Ramakantan R Kumta NB Acrodysostosis Syndrome Indian Journal of Pediatrics 54(2) 271-273 Apr 1987

81 Bharucha BA Kagalwala TY Pandya AL Vaidya VU Kumta NB Cyproheptadine poisoning Indian Pediatr 24(2)165-169 Feb 1987

82 Kumta NB Bharucha BA Pandya AL Kagalwala TY Vaidya VU Rane SM Menkes Steely Hair Disease Indian Pediatr 2364-67 Jan 1986

A Pandya MD 10

83 Pandya A Kumta NB et al A Multiple Malformations Syndrome with Cleft Lip and Palate and Ankyloblepharon Filiforme Adnatum Indian Journal of Pediatrics 52665 1985

Published Abstracts (Poster and Platform Presentation) ldquoHear-lsquon-SEQ an international collaboration to discover unknown genetic etiologies of hearing loss

in kidsrdquo- podium presentation at ARO Feb 2018 1 Cochlear Nerve Deficiency presenting as Auditory Neuropathy Spectrum Disorder

A Pandya A OrsquoBrien P Roush Accepted for the 67th Annual American Society of Human Genetics meetings ASHG Orlando FL October 17-21 2017

2 Expert specification of the ACMGAMP variant interpretation guidelines and application of the ClinGen gene curation framework to genetic hearing loss

Ahmad N Abou Tayoun Andrea M Oza Sarah E Hemphill Brandon J Cushman Marina T DiStefano Jun Shen4 Alexander Chapin Anne BS Giersch Margaret A Kenna Arti Pandya John J Alexander Hatice Duzkale Wenying Zhang Lisa A Schimmenti Kevin Booth Hela Azaiez Hideki Mutai Tatsuo Matsunaga Lilian C Downie Hannie Kremer MA Moreno-Pelayo M Morin I del castillo Cynthia C Morton Heidi L Rehm Sami S Amir On behalf of the ClinGen Hearing Loss Working Group Accepted for the 67th Annual American Society of Human Genetics meetings ASHG Orlando FL October 17-21 2017

3 Phenotype and Natural history in 49 individuals with SATB2-associated syndrome Yuri A Zarate Michael Gambello Arti Pandya Margarita Saenz Victoria Siu Joseph Ray Elizabeth Sellars Angela Sun Wendy Smith Nathan Robin Jonathan Picker Amelia Kirby Anne Slavotinek Martina Bebin Amy Calhoun Constance Smith-Hicks Meena Balasubramanian To be presented at the Smith Meetings Stowe VT August 25-30th 2017

4 Auditory neuropathy spectrum disorder clinical and audiologic features in a large clinical cohort A Pandya A OrsquoBrien P Roush Abstract 431 ACMG Annual Clinical Genetics Meetings Phoenix AZ March 21-25 2017

5 Exploring the characteristics of hearing loss and its etiology in a unique subset of families with hereditary deafness A Pandya M Tekin AH OrsquoBrien SH Blanton KS Arnos Abstract 66th Annual Meeting of the ASHG Poster Presentation Vancouver Canada October 17-22 2016

6 X-Linked Congenital Disorder of Glycosylation in a female infant due to SLC35A2 gene

mutation - Expanding the clinical phenotype A Pandya B Lincoln-Boyea RS Greenwood A 2425 Presented at 65th Annual Meeting of the ASHG Poster presentation Baltimore MD October 6-10 2015

7 A Comprehensive Search for Deafness Genes Associated with Inner Ear Anomalies G Bademci FB Cengiz O Diaz Horta D Duman J Foster IIT Atik T Kirazli H Alper I Menendez A Pandya I Akalin G Sennaroglu S Guo F H Hernandez M de la Luz Arenas Sordo T M Felix A Incesulu F Ozkinay L Sennaroglu M Yildirim-Baylan M Tekin A 2841 Presented at 65th Annual Meeting of the ASHG Poster presentation Baltimore MD October 6-10 2015

A Pandya MD 11

8 Whole exome sequencing as a tool to enhance patient care Experience in a midsize academic clinical genetic setting A Pandya K Withrow T Causey V Pallante J Propst M Jaworski R Lewandowski A 2579 63rd Annual Meeting of the ASHG meeting Poster presentation San Diego October 18-22 2014

9 Does genetic hyper mutability contribute to the current prevalence of connexin 26 deafness D C Braun E A Craft B Herold K S Arnos M Tekin and A Pandya ASHG meeting Poster presentation A 1998 San Diego October 18-22 2014

10 Whole Exome Sequencing Identifies Novel De Novo Deletion in DYNC1H1 Associated with Peripheral Neuropathy and Developmental and Cognitive Delays K Withrow J Harris J Teasley A Pandya ACMG meeting Poster presentation A 549 pg 128 March 25-29 2014 Nashville

11 Comprehensive Targeted Next Generation Sequencing for Neonatal Hearing Loss Diagnosis and Screening Tanya D Sokolsky Arti Pandya Edwin W Naylor Andy Bhattacharjee ACMG Annual Clinical meeting Poster presentation A 326 pg 142 March 25- 29 2014 Nashville

12 Second-Tier DNA Confirmation of Newborn Metabolic and Hearing Loss Screening Using Targeted Next Generation Sequencing Naylor EW Sokolsky T Puffenberger EG Strauss KA Morton DH Pandya A Maldonada F Bhattacharjee A Presentation at the Society for Inherited Metabolic Disorders meeting in Asilomar California March 9-12 2014

13 Menkes Carrier with Pervasive Developmental Disorder and Bipolar Disorder K Withrow A Pandya ACMG Annual Clinical Genetics Meeting Program Guide poster presentation A 232 pg 109 March 2013

14 Novel Feature of Late Onset Craniosynostosis in a Child with deletion of 1p313 co-existing with NF-1 Richard Taylor Jennifer Rhodes Kara Withrow Arti Pandya ACMG Annual Clinical Genetics Meeting Program Guide poster presentation A 241 pg 93 March 2013

15 Characteristics of Mitochondrial Deafness in a National Repository Joshua C Yelverton Kathleen Arnos Walter E Nance Arti Pandya and Kelley M Dodson Presented at the 2012 American Academy of Otolaryngology Annual Meeting September 9-12 2012 Washington DC Abstract SP463

16 Universal molecular screening for congenital CMV infection at birth to establish etiology for late onset prelingual hearing loss results from a pilot study Arti Pandya Kelley Dodson Xia- Juan Xia Beth Marshall Stuart Adler Platform presentation June 5th 2012 Newborn Hearing Screening International Society Meeting Lake Como Italy Abstract 83

17 Analysis of risk factors associated with bilateral hearing loss identified through newborn hearing screening Dodson KM Chapman DA Wang S and Pandya A Poster Presentation at the Newborn Hearing Screening International Society Meeting June 2012 Lake Como Italy Abstract 139

18 Analysis of Risk Factors Associated with Unilateral Hearing Loss Identified Through Newborn Hearing Screening Joshua C Yelverton MD Laura M Dominguez MD Derek A Chapman PhD Shuhui Wang Arti Pandya MD and Kelley M Dodson MD Poster presentation American Society of Pediatric Otolaryngology Combined Otolaryngology Section Meetings Poster A13 Apr 20-21 2012 in San Diego CA

19 Genetic Studies of High Frequency Hearing Loss Georgolios A Barr N Nguyen B Arnos KS Nance WE Pandya A Dodson KM (Poster A230 page 77) Presented at the Triologic Society Combined Otolaryngology Section Meetings April 20-21 2012 San Diego CA

A Pandya MD 12

20 Clinical Evaluation of Two Commercially Available PCR-Based Methods for the Detection of FMR1 Mutation J Juusola P Anderson F Sabato A Pandya DS Wilkinson A Ferreira-Gonzalez Association for Molecular Pathology meetings A G 20 J Molecular Diagnostics Nov 2011

21 Universal screening for congenital CMV infection at birth its role in early detection of late onset hearing loss with an etiologic diagnosis Arti Pandya Kelley Dodson Xia- Juan Xia Joshua Yelverton Edmund Haywood Beth Marshall Stuart Adler Platform presentation at the 8th Molecular Biology of Hearing and Deafness conference T 35 in publication Cambridge England July 6- 9 2011

22 Vestibular Function in DFNB1 Deafness The Effects of Age Ruth S Marin Jamie Bogle Moushey Kathleen Arnos Dina Zemil Arti Pandya Kelley Dodson Carol LaSasso R Steven Ackley Poster presentation at American Academy of Audiology (AAA) April 6th -9th 2011 Chicago IL

23 Intracranial Twin Feti in Fetu with CGH SNP Microarray Studies J Hiemenga J Yan L Huddle M Jaworski P Papenhausen J Bodurtha A Pandya Abstract 227 pg 204 ACMG Vancouver BC March 16-20 2011

24 Planning for long-term follow-up data collection after newborn screening to advance research and improve service delivery and health outcomes Susan A Berry and Amy M Brower for the Joint Committee of the NBSTRN Clinical Centers Workgroup and the NCCRC Long-Term Follow-Up Workgroup Platform presentation ACMG annual meeting A 43 pg 159 Vancouver BC March 16-20 2011

25 Vestibular Function in DFNB1 Deafness Jamie Bogle Moushey Ruth S Marin1 Kathleen Arnos Dina Zemil Arti Pandya Kelley Dodson Carol LaSasso R Steven Ackley Poster Presentation at American Association of Audiology (AAS) March 3-5th 2011 Scottsdale AZ

26 Planning for long-term follow-up data collection after newborn screening to advance research and improve service delivery and health outcomes Presented at the Society for Inherited Metabolic Disease (SIMD) Meetings Asilomar CA Susan A Berry and Amy M Brower for the Joint Committee of the NBSTRN Clinical Centers Workgroup and the NCCRC Long-Term Follow-Up Workgroup Poster February 2011

27 Clinical Dilemma in Interpretation of CGH Microarray Results Illustration of a case with a copy number gain and loss inherited from each parent Arti Pandya V Kirkland K Withrow J Hiemenga A1265 pg 161 ASHG meeting Nov 2-6th Washington DC 2010

28 Vestibular Function in DFNB1 Deafness Presented at American Auditory Society (AAS) Jamie Bogle Moushey Ruth S Marin Kathleen Arnos Dina Zemil Arti Pandya Kelley Dodson Carol LaSasso R Steven Ackley March 2010

29 Primary Systemic Carnitine Deficiency Caused by a Novel Mutational mechanism in the SLC22A5 gene Pandya A Withow K Duncan L A 69- pg 63 ACMG program guide Albuquerque NM March 2010

30 Dodson Kelley M Georgolios Alexandros Tzagkaroulakis Michail Nguygen Bich Barr Noelle Sismanis Aristides Arnos Kathleen S Norris Virginia W Nance Walter E Pandya Arti Genetic Studies of Progressive Hearing Loss 7th Molecular biology of hearing and Deafness Meeting Boston MA June 2009

31 Rendtorff Nanna D Lodahl Marianne Pandya Arti Welch Kathryn O Norris Ginger Bitner-Glindzicz Maria Bruhn Helene Moller Claes Lindholm Sture Eriksson Kristina Enagard

A Pandya MD 13

Stefan Tranebjaerg Lisbeth Autosomal Dominant Hearing Impairment and Optic Atrophy in Eight Families are caused by missense mutations in WFS1 7th Molecular biology of hearing and Deafness Meeting Boston MA June 2009

32 Dodson Kelley M Georgolios Alexandros Barr Noelle Sismanis Aristides Arnos Kathleen S Norris Virginia W Nance Walter E Pandya Arti Genetic Studies of Unilateral Hearing Loss Accepted by the American Otologic Society COSM (Combined Otolaryngology Section Meetings) Phoenix Arizona May 2009

33 Pandya Arti Withrow Kara Tracy Kelley Norris Virginia W Maes Hermine Arnos Kathleen S Platform Presentation Universal Molecular Screening in Newborns for Select Causes of Hearing Loss Results from a National US Survey on Consumer Opinion 2009 ACMG Annual Clinical Genetics Meeting Tampa Convention Center Tampa FL March 25-29 2009

34 Blanton SH Burt A Nance WE Pandya A Welch KO Norris VW Arnos KS Fertility and Fitness Among the Deaf AJHG supplement A 2535 pg 475 Philadelphia November 2008

35 Pandya A Tracy K Withrow K Norris VW Maes H Arnos KS Universal Newborn Molecular Screening for Select Causes of Hearing Loss Consumer Attitudes Based on a National Survey in the US Platform presentation Newborn Hearing Screening International Congress Lake Como Italy June 19-21 2008

36 Dodson KM Arnos KA Norris V Welch KO Nuzzo R Nance WE Pandya A Vertigo and Tinnitus in Connexin Deafness Presented at the Newborn Hearing Screening International Congress Lake Como Italy June 19-21 2008

37 Jane Juusola Patrik Vitazka David SWilkinson Arti Pandya Andrea Ferreira-Gonzalez Development of mutation detection panel for hereditary hearing loss American Molecular Pathology meeting 2008

38 Arnos KS Welch KO Tekin M Norris VW Blanton SH Pandya A Nance WE Secular Trends in the Frequency of Deafness in the US A comparison of Proband Matings In Two Populations Platform presentation ACMG supplement Phoenix March 2008

39 Pandya A Withrow K Norris V Blanton SH Maes H Arnos KS Impact of Testing for Hereditary Deafness on the Consumer Results of a US National Survey Platform presentation at the 6th Molecular Biology of Hearing and Deafness Meeting Cambridge UK July 11-14 2007

40 Pandya A Withrow K Norris V Blanton SH Burton S Arnos KS A National Survey Assessing the Attitudes about Recent Advances in the Field of Hearing Loss ACMG supplement A 199 Nashville March 21st- 24th 2007

41 Papavassiliou P Gursoy N Hill G Riley B Pandya A Sundaram U York T Jackson-Cook C Genotype-Phenotype Correlation for Down Syndrome A Study of Mosaicism for Trisomy 21 ACMG supplement A 78 pg 109 Nashville March 21st- 24th 2007

42 Dodson KM Arnos KA Marin RS Welch KO Norris V Nance WE Pandya A Prevalence of Vertigo in GJB2 deafness AJHG supplement A 693 pg 144 Oct 2006

43 Nance W Pandya A Blanton SH Dodson KM Xia XJ Welch KO Arnos KA Gametic Phase Disequilibrium as a Method to Map Deafness Genes AJHG supplement A 92 pg 35 Oct 2006

44 Marin RS Welch K Pandya A Ackley RS Arnos KS Impact of rare GJB2 mutations on audiologic phenotype Presented in April 2006 at the American Academy of Audiology Annual Meeting 2006

A Pandya MD 14

45 Arnos KS Burton S Cohn WF Nance WE Pandya A Education in the Genetics of Hearing Loss A Model Program ACMG supplement A 72 pg 93 San Diego Mar 23-26th 2006

46 Welch KO Marin RS Pandya A Ackley RS Arnos KS Compound Heterozygosity for Dominant and Recessive GJB2 Mutations Affect on Phenotype ACMG supplement A 212 pg 130 San Diego Mar 23-26th 2006

47 Withrow KA Burton S Arnos KS Kalfoglou A Pandya A Consumer Preferences for the Provision of Genetic Services for Hearing Loss ACMG supplement A 255 pg 142 San Diego Mar 23-26th 2006

48 Nance WE Cox DR Blanton SH Xu C Arnos KS Dodson K Welch KO Pandya A Gametic Phase Disequilibrium Its existence and use to map deafness genes Platform presentation ACMG supplement A 52 pg 88 San Diego Mar 23rd-26th 2006

49 Norris V Arnos KS Hanks W Xia X Blanton SH Nance WE Pandya A Does Universal Newborn Hearing Screening identify all children with GJB2 (connexin 26) deafness Penetrance of GJB2 deafness NSGC 2005

50 Burton S Withrow KA Arnos KS Kalfoglou A Pandya A Consumer Attitudes towards Genetic Testing and Newborn Screening for Deafness A Focus Group Study NSGC 2005

51 Nance WE Pandya A Arnos KS Lim BG Morton CC Estimating Age Related Changes in Causes of Deafness by Sentinal Phenotype Analysis Platform presentation AJHG supplement A 132 pg ndash Oct 2005

52 Pandya A Burton S Withrow K Kalfoglou A Blanton S H Arnos KS Consumer Attitudes toward Genetic Testing and Newborn Screening for Hearing Loss AJHG supplement A 1199 pg ndash Oct 2005

53 Arnos KS Burton SK Pandya A Cohn W Culpepper B Education in the Genetics of Hearing Loss A Model Program Platform Presentation at the Early Hearing Detection and Intervention (EHDI) Annual Meeting Atlanta GA March 2005

54 Pandya A Arnos KS Xia XJ Norris V Withrow K Blanton SH Nance WE Evidence for Interactions Between GJB2 and GJB6 Mutations in Def Digenic Double Heterozygotes Platform Presentation Annual Clinical Genetics Meetings ACMG supplement A 7 pg A3 March 2005

55 Nance WE Withrow K Arnos KS Norris V Carter H Pandya A Use of a sentinel genotype to estimate the overall frequency of genetic deafness Annual Clinical Genetics Meetings ACMG supplement A 103 pg A3 March 2005

56 Sundaram U Pandya A Jackson-Cook C Unbalanced X-autosome translocation in a male resulting in Xq26-qter disomy presenting with an Osteogenesis Imperfecta (OI) phenotype Annual Clinical Genetics Meetings ACMG supplement A 168 pg A3 March 2005

57 Pandya A Withrow K Xia X-J Arnos KS Norris V Nance WE Significance of the M34T variant of the GJB2 gene as a cause for deafness Am J Hum Genet Supplement A 2399 Oct 26-30th 2004

58 Nance WE Arnos KS Xia X-J Norris V Withrow K Pandya A Evidence for Digenic Interactions between GJB2 and GJB6 Mutations Platform presentation by Pandya 5th Molecular Biology of Hearing amp Deafness Mtg Bethesda A 75 pg 89 Oct 1-3rd 2004

A Pandya MD 15

59 Pandya A Xia X-J Arnos KS Norris V Nance WE The Frequency of Mitochondrial Mutations in the 12SrRNA and tRNA ser (UCN) genes in deaf probands in a US Repository 5th Molecular Biology of Hearing amp Deafness Mtg Bethesda A 102 pg 116 Oct 1-3rd 2004

60 Yan D Park HJ Ouyang XM Pandya A Doi K Erdenetungalag R Du LL Nance WE Griffith AJ Liu XZ Evidence of a founder effect for the 235delC mutation of GJB2 (connexin 26) in East Asians Am J Hum Genet Supplement A1459 2003

61 Pandya A Blanton SH Yan D Ke X Ouyang XM Du LL Balkany T Nance WE Liu XZ DFNA53 a new locus for autosomal dominant hearing loss maps to 14q112-221 in a large family from China Am J Hum Genet Supplement A1736 2003

62 Arnos K Xia XJ Norris G Landa B Falk R Erdenetungalag R Dangasuren B Nance WE Pandya A Relative frequencies of the mitochondrial A1555G and 961 del T mutations in the 12SrRNA gene in a large sample of deaf probands from the United States Am J Hum Genet Supplement A2196 2003

63 Liu XZ Ouyang XM Xia XJ Zeng J Li F Pandya A Du L Corey D Petit C Smith RJH Dallos P Balkany T Nance WE Chen ZY Prestin a cochlear motor protein is defective in non-syndromic recessive deafness AJHG Supplement Vol 71 A1991 pg 510 Oct 2002

64 Nance WE Landa B Gupta V Arnos K Welch KO Xia X J Blanton S J Pandya A Frequency of the Cx30 del mutation in deaf probands from the US and its occurrence in cis with Cx26delG Am J Hum Genet AJHG Supplement Vol 71 A1992 pg 510 Oct 2002

65 Pandya A Massiello A Landa B Xia X J Welch KO Arnos KS Blanton S H Nance W E Van Tuyle G C The Frequency of Deafness-Associated Mitochondrial DNA Mutations in a National Repository from US Deaf Probands AJHG Supplement Vol 71 A1020 pg 347 Oct 2002

66 Welch KO Smith SD Hoover D Arnos KS Kelley PM Pandya A Nance WE A variant of Tietz syndrome caused by a mutation in the basic domain of the MITF gene AJHG Supplement Vol 71 A 477 pg 254 Oct 2002

67 Liu XZ Blanton SH Liang CY Cai MW Pandya A Landa B Mummalanni S Li KS Du LL Qin XN Liu YF Nance WE A novel locus for autosomal dominant non-syndromic deafness (DFNA41) maps to chromosome 12q24-qter AJHG Supplement Vol 69 A1834 pg 495 Oct 2001

68 Nance WE Tekin M Welch KO Xia XJ Liu XZ Pandya A Arnos KS Genetic Evidence for Digenic Inheritance of Non-Syndromic Deafness Involving the Connexin 26 Locus AJHG Supplement Vol 69 A2395 pg 589 Oct 2001

69 Pandya A Xia XJ Erdenetungalag R Tekin M White TW Radnaabazar J Dangaasuren B Nance WE Low Frequency and Unique Spectrum of Connexin 26 (Cx26) Mutations in Mongolia Role of Relaxed Selection and Assortative Mating AJHG Supplement Vol 69 A2402 pg 590 Oct 2001

70 Pandya A Erdenetungalag R Xia XJ Welch KO Radnaabazar J Dangaasuren B Arnos KS Nance WE The Role and Frequency of Mitochondrial Mutations in Two Distinct Populations The USA and Mongolia The Molecular Biology of Hearing and Deafness Abstract No 97 Oct 2001

71 Liu XZ Xia XJ Adams J Chen ZY Tekin M Ouyang X Arnos K Pandya A Nance WE Mutations in the Connexin 43 gene (GJA1) are Associated with Non-Syndromic

A Pandya MD 16

Recessive Deafness The Molecular Biology of Hearing and Deafness Abstract No 64 Oct 2001

72 Nance WE Erdenetungalag R Arnos K Liu XZ Pandya A Use of a DNA Repository to Test Hypothesis about the High Prevalence of Connexin 26 mutations The Molecular Biology of Hearing and Deafness Abstract No 11 Oct 2001

73 Pandya A Tekin M Erdenetungalaag R Xia X Dangaasuren B Radnaabazar J Blanton SH Nance WE A Unique Spectrum of Alterations in the Cx-26 Gene in Deaf Probands from Mongolia Eur J Hum Genet Vol 9 supp 1 A1465 pg 388 May 2001

74 Nance WE Pandya A Liu X Why are Mutations at the Connexin 26 locus Such a Frequent Cause of Genetic Deafness Eur J Hum Genet Vol 9 supp 1 A 935 pg 283 May 2001

75 Stern SJ Oelrich K Arnos KS Murrelle L Nance WE Pandya A The Attitudes of Deaf and Hard of Hearing Individuals toward Genetic Testing of Hearing Loss Platform presentation AJHG Supplement Vol 67 A116 pg 32 Oct 2000

76 Nance WE Liu XZ Erdenetungalaag R Radnaabazar J Dangaasuren B Pandya A Testing the Hypothesis that Assortative Mating has Increased the Frequency of Cx 26 Deafness AJHG Supplement Vol 67 A224 pg 53 Oct 2000

77 Gursoy N Hill G Gregory A Landa B Pandya A Vanner L Jackson-Cook C Assessment of variation in clinical outcome and mechanisms underlying mosaic Down Syndrome AJHG Supplement Vol 67 A612 pg 121 Oct 2000

78 Pandya A Oelrich K Arnos KS Morell RJ Xia XJ Albertorio J Liu XZ Blanton SH Friedman TB Nance WE Connexin (Cx) Testing in a Nationwide Repository of Samples from Deaf Probands Relevance to Clinical Practice AJHG Supplement Vol 67 A1305 pg 240 Oct 2000

79 Tekin M Akar N Cin S Blanton SH Nance WE Pandya A Frequency of Connexin 26 (GJB2) mutation carriers in the Turkish Population AJHG Supplement Vol 67 A1306 pg 240 Oct 2000

80 Liu XZ Blanton SH Bitner-Glindzicz M Pandya A Landa B MacArdle B Rajput K Sirimanna T Webb BT Smith R Nance WE Further refinement of the Usher 1D locus at 10q21-22 AJHG Supplement Vol 67 A1653 pg 300 Oct 2000

81 Lee MH Lu K Gordon D Ott J Kojima H Kwiterowich PO Brownstein MJ Salen G Ose L Mietinnen T Pegoraro R Hidaka H Sakuma N Pandya A Patel S Fine Mapping and genetic analysis of Sitosterolemia Founder effects in at least three geographic areas AJHG Supplement Vol 67 A1717 pg 310 Oct 2000

82 Pandya A Oelrich K Morell R KS Arnos Xia XJ Liu XZ Albertorio JR Blanton SH Friedman T Nance WE Connexin-26 deafness in the United States Are we ready for the next Millennium Platform presentation Genetics in Medicine Vol 2 No1 Abstract No 6 JanFeb 2000

83 Nance WE Liu XZ Pandya A Is Assortative Mating the Cause for the High Frequency of Connexin 26 (Cx 26) Deafness Genetics in Medicine Vol 2 No1 Abstract No 8A Jan Feb 2000

84 Barcus ME Pandya A Xia XJ Garrett CT Ferreira-Gonzalez J Molecular Testing for Hereditary Pancreatitis (HP) Mol Diagnostics Vol 1 No1 Abstract No G25 Nov 1999

A Pandya MD 17

85 Buller A Ferreira-Gonzalez A Pandya A Jackson-Cook C Bodurtha J Tekin M Garrett CT A multiplex Methylation - Sensitive PCR Assay for the Detection of Prader-Willi and Angelman Syndromes J Mol Diagnostics Vol 1 No1 Abstract No G34 Nov 1999

86 Pandya A Morell R Oelrich K Arnos KS Xia XJ Liu XZ English J Blanton SH Giffith A Friedman T Nance WE Estimate on the frequency of Connexin 26 mutations in the deaf population in the USA AJHG 65 supplement No 4 A2753 Oct 1999

87 Nance WE Erdenetungalag R Radnaabazar J Dangaasuren B Batsuuri J Blanton SH Carter WH Pandya A Estimation of the Frequency of Genetic Deafness in Mongolia with a Genotype Index AJHG 65 supplement No 4 A2213 Oct 1999

88 Tekin M Jackson-Cook C Buller A Ferreira-Gonzalez A Pandya A Bodurtha J Mosaicism for Angelman Syndrome AJHG 65 supplement No 4 A2031 Oct 1999

89 Peters BJ Pandya A Vanner L Kerkering K Bodurtha JN Clinical features of Coffin-Siris syndrome AJHG 65 supplement No 4 A1907 Oct 1999

90 Xiu XZ Xia XJ Xu LR Pandya A Liang CY Blanton S Steel KP Brown SDM Nance WE The GJB3 gene also underlies non-syndromic recessive deafness AJHG 65 supplement No 4 A578 Oct 1999

91 Pandya A Amendola M Raadnabazar T Landa B Xia XJ Dangaansuren S Nance WE Evidence for Two Distinct Mitochondrial Mutations Occurring Simultaneously in deaf Students in Mongolia AJHG 63 supplement No 4 A711 Oct 1998

92 Nye JS Hayes EA Amendola M Vaughn D Charrow J McLone DG Nance WE and Pandya A Identification of the A1555G Mitochondrial Mutation (MTRNR1) in a Family with Progressive Sensorineural Hearing Loss Associated with Pigmentary Digital and Spinal Anomalies AJHG 63 supplement No 4 A996 Oct 1998

93 Burkett E Shakeel F Jackson-Cook C Booker J Pandya A Monozygotic twins discordant for hypoplastic right heart syndrome eventration of the diaphragm and a balanced chromosome rearrangement involving the DiGeorge locus AJHG 63 supplement No 4 A1669 Oct 1998

94 Nance WE Pandya A Maes H Ellison JW Blanton SH Schieken RM A Pseudoautosomal Gene on Xp Effects Normal Variation in Stature AJHG 63 supplement No 4 A2948 Oct 1998

95 Nance WE Pandya A Xia XJ Blanton SH Oelrich K and Arnos K The Frequency of Connexin-26 Mutations Among the Deaf and in Non-Complementary Deaf X Deaf Matings Poster Presentation and published in the manual for 3rd Symposium on Molecular Biology of Deafness and Hearing Oct 1998

96 Pandya A Xia XJ Blanton SH Landa B Markello T and Nance WE Diagnostic value of direct mutation analysis in families with Hereditary Pancreatitis AJHG 61 supplement No 4 A1098 Oct 1997

97 Winters J Pandya A Jackson-Cook C Four cases of multiple aneuploidy Determination of the origin of nondisjunction and parental gametic studies AJHG 61 supplement No 4 A816 Oct 1997

98 Blanton SH Pomponio R J Norrgard K J Pandya A Nance W Coskun T Demirkol M Wolf B Haplotype Analysis of Consanguineous and Non-Consanguineous Individuals with Profound Biotinidase Deficiency AJHG 59 supplement No 4 A991 Oct 1996

A Pandya MD 18

99 DeStefano Anita L Cupples L Adrienne Arnos KS Asher Jr JH Baldwin CT Halloran-Blanton S Carey M da-Silva EO Friedman TB Greenburg J Milunsky A Morell R Nance WE Pandya A Ramesar R Read AP Tassabehji M Wilcox ER Farrer LA Correlation between Waardenburg Syndrome phenotype and genotype in a population of individuals with identified PAX3 mutations AJHG 59 supplement No 4 A118 1996

100 Pandya A Xia XJ Radnaabazar J Batsuuri J Dangaansuren B Odgerel D Fischel-Ghodsian N Nance WE Two Mongolian families with matrilineal aminoglycoside ototoxicity carry the 1555 A-G substitution in the mitochondrial 12s rRNA gene at the Molecular Biology of hearing and deafness symposium Oct 1995

101 Markello T Pandya A Nance W Blanton S The pancreatic stone protein (Lithostatin) is excluded as the cause of hereditary pancreatitis in a large kindred Am J Hum Genet 57A1266 Oct 1995

102 Llewelyn B Kalow W Tang BK Pandya A Schieken RM Meyer JM Nance WE Effect of passive smoking on CYP1A2 activity in twins Am J Hum Genet 57A1843 Oct 1995

103 Pandya A Halloran-Blanton S Schwartz C Nance WE Genetic studies of Sitosterolemia poster and platform presentation at CHRC Annual Meeting Galena IL Sept 1994

104 Pandya Arti Llewellyn B Schieken R Meyer J Razieh J Corey L Nance WE A Search for Imprinted Quantitative Trait Loci (QTLs) for Birth Weight AJHG 55 A161 No 928 1994

105 Nance WE Pandya A Blanton SH Landa B Arnos KS Candidate Regions for Waardenburg Syndrome Type II Search for a Second WS Locus AJHG 55A 197 No 1146 1994

106 Arnos KS Pandya A Markello T Israel J Landa B Blanton S Nance WE A Kindred with Unusual features of Waardenburg Syndrome and Familial Tremor AJHG 55 A77 No 426 1994

107 Markello T Pandya A Landa B Tipton G Nash C Bader P Nance WE Crural Hypopigmentation in a large pedigree A new syndrome with neural crest cell migration defect or a variant of Waardenburg Syndrome AJHG 55A86 No 483 1994

108 Pandya A Markello T An unusual uterine anomaly in a patient with mosaic Turner Syndrome The American Journal of Human Genetics 531554 1993

109 Pandya A Williams JC Koch R Hommes FA N-Acetylglutamate Synthetase Deficiency Diagnosis and Treatment abstract published in The American Journal of Human Genetics 43 A13 abstract No 0051 Sept 1988

TEACHING ACTIVITIES Course Director 2015 ndash Present Course Director- ldquoCurrent Topics in Medical amp Human Geneticsrdquo Research

Seminar UNC

A Pandya MD 19

2015 ndash 2016 Co-course director for the UNC Medical School coil for Genetics in M1 year 2006 ndash 2014 Gen 691 Special Topics (Classic Papers) Fall Semester [VCU SOM] Major Teaching Assignments At UNC SOM 2016-present Didactic lectures in the Medical Genetics course for postgraduate trainees 2015 ndash Present Didactic lectures series for genetics to the Pediatric Residents (25-30 residents) 2016 Developing a module on hearing loss and genetics for the M-4 students 2015 Taught in six small group sessions in genetics for M-2 students (30 student in

each small group taught) At VCU SOM (average platform lecture hours per year - 46) 2007 ndash 2014 Gen 502 Advanced Human Genetics graduate students 1996 ndash 2014 Gen 525526 Practice of Genetic Counseling 1996 ndash 2014 Gen 631 Advanced Dental Genetics 1995 ndash 2014 Gen 614 Human Biochemical amp Molecular Genetics graduate students 1993 - 2014 Neurobiology of CNS Diseases NEUS 640-001- Module on Huntington Disease

graduate students Oct 2014 1993 ndash 2014 Genetics M1 course 1993 ndash 2014 Gen 527 528 Medical Genetics for counseling students 1992 ndash 2014 Gen 600 Clinical Genetics training of fellows pediatric residents medical

students (M4) and genetic counseling students 1996 ndash 2013 M3 Pediatric clerkship advisor 2001 ndash 2012 Gen 531 Dental Genetics 1993 ndash 2012 Group leader for 1st year medical student (M1) small group recitations in

pedigree amp linkage analysis molecular applications and clinical applications 1995 ndash 2008 Gen 501 Introduction to Human Genetics graduate students 2003 ndash 2006 Summer course in Genetics for Audiology Gallaudet University co-organizer

academic audiology professionals 1999 ndash 2006 Gen 690 Human Molecular Genetics Journal Club rotating coordinator

A Pandya MD 20

1994 ndash 2006 Gen 502 Molecular Genetics Lab Practicum for GC students 1998 ndash 2001 MIC 605 Molecular Biology and Genetics course 1994-2001 Course

coordinator graduate students 1996 ndash 2000 Gen 691 Special Topics in Cancer for counseling students 1993 ndash 2000 Gen 691 Clinical Genetics Overview course graduate students Grand Rounds

ldquoEvaluation of Hearing Loss current standard of carerdquo Grand Rounds at REX hospitals UNC Health Care System Oct 11th 2017

ldquoImpact of Next Generation Sequencing on Diagnosis of Hearing Lossrdquo Pathology Grand Rounds UNC Chapel Hill NC April 14th 2016

ldquoHear Me Out I Failed my Newborn Hearing Screeningrdquo Pediatric Grand Rounds UNC Chapel Hill NC October 22 2015

National

ldquoHow Genetic are Cardiomyopathies Recent Advancesrdquo Grand Rounds Division of Cardiology MCV-VCU September 15 2014

ldquoNewborn Screening for IEMrdquo Grand Rounds at the HDH Hospital Pediatric Group Richmond VA Sept 12 2012

ldquoHow Genetic are Cardiomyopathies Can we change destinyrdquo Grand Rounds Division of Cardiology MCV VCU May 18 2012

ldquoGenetics of Hearing Lossrdquo Neurology Grand Rounds VCU SOM Richmond VA April 22 2009 ldquoI think it is Metabolic What Nextrdquo Pediatric Grand Rounds VCU SOM Richmond VA March

20 2007 ldquoGenetics Meets Dermatologyrdquo Dermatology Grand Rounds VCU SOM January 18 2006 ldquoNewborn Screening ndash The National Picturerdquo Pediatric Grand Rounds VCU School of

Medicine Richmond VA January 4 2005 ldquoCystic Fibrosis-Population Carrier Screening amp Role of the Obstetricianrdquo Ob Gyn Grand

rounds VCU School of Medicine Richmond VA December 7 2004 ldquoGenetics Meets Dermatologyrdquo Dermatology Grand Rounds at VCU December 10 2003 ldquoGenetics Meets Otolaryngologyrdquo ENT grand rounds at VCU October 23 2003 ldquoGenetics under your skin Dermatologic findings in genetic syndromesrdquo Dermatology Grand

Rounds Medical College of Virginia April 10 2002 ldquoThe New and Not So New In Hearingrdquo ENT Grand Rounds at Medical College of Virginia

September 6 2001

A Pandya MD 21

ldquoEarly Detection of Hearing Loss The Past Present and the Futurerdquo Pediatric Grand Rounds Medical College of Virginia Richmond VA February 6 2001

ldquoThe New Genetics in Clinical Practicerdquo Medicine Grand Rounds at Southside Regional Medical Center Petersburg VA May 18 2000

ldquoA New Era in the Genetics of Deafness Symphony of the Unknownrdquo Genetic Grand Rounds at Emory University Atlanta Georgia April 17 2000

ldquoHereditary Pancreatitisrdquo Departmental Noon Conference Human Genetics Nov 10 1999 ldquoMitochondria and Hearing Lossrdquo Pathology Grand Rounds MCV VCU Nov 5 1999 ldquoTuning into the Genetics of Deafnessrdquo Grand Rounds in the Department of ENT MCV VCU

April 22 1999 ldquoTranscribing and Translating Advances in Genetics to Pediatric Practicerdquo Grand Rounds in

Pediatrics MCV VCU December 1 1998

International ldquoClinical Applications of Molecular Geneticsrdquo Grand Rounds Department of Pediatrics King

Edward Memorial Hospital Bombay India December 18 1997 ldquoGene Therapyrdquo Grand Rounds Wadia Childrenrsquos Hospital Bombay India December 18 1997

ldquoRecent Advances in Geneticsrdquo Grand Rounds Department of Pediatrics King Edward Memorial Hospital Bombay India April 11 1995

Continuing Education Lectures Invited Seminars

Local ldquoEvaluation of a child with hearing loss Current practice guidelinesrdquo Department of Audiology

Graduate Student lecture UNC Chapel Hill October 23rd 2018 ldquoCorrection of sickle cell disease in adult mice by interference with fetal hemoglobin silencingrdquo

at the Current Topics in Medical and Human Genetics- series 27th April 2017 ldquoHearing Loss- The impact of next generation sequencing on clinical evaluation and

managementrdquo invited speaker at the NC Genetic Medical Association meetings hosted at UNC October 28th 2016

ldquoApproach to a child with genetic hearing lossrdquo Department of Audiology graduate student lecture UNC Chapel Hill October 12 2016

ldquoGenetic work up for children with Hearing Lossrdquo Department of Audiology UNC Chapel Hill September 30th 2015 ldquoThe Game Changer of Health Precision Medicine Panel Sessionrdquo invited speaker to a session organized by Health Connect South North Carolina Biotech Center RTP NC November 10th 2015

ldquoHearing Loss- A journey through the labyrinthrdquo at the Genetic Department Research Seminar September 9th 2015

A Pandya MD 22

National

ldquoThe Paradigm of Hearing Loss and Precision Medicinerdquo Invited seminar Nemours Childrenrsquos Hospital Wilmington Delaware September 5th 2018

ldquoGenetic Hearing Loss Current status and standard of carerdquo Invited speaker at the Virginia

Society of Otolaryngology meeting Richmond VA May 19th 2017

ldquoPrecision Medicine The What When and Howrdquo Invited speaker- TiECon Midwest conference Session on Digital Health Care Detroit MI October 27th 2016

ldquoGenomics and Gastroenterology How does one use it to enhance patient carerdquo at 19th Annual Virginia Liver Symposium and Update in Gastroenterology meeting Richmond VA March 21st 2015

ldquoDifferent Approaches to Evaluating Individuals with Hearing Lossrdquo ASHA Audiology 2014 Genetics and Hearing Loss Online Conference October 17 2014

ldquoThe Origins of Syndromic Hearing Lossrdquo ASHA Audiology 2014 Genetics and Hearing Loss Online Conference October 16 2014

ldquoUniversal Newborn Screening for Congenital CMV infection Is it Prime Timerdquo VA state EHDI advisory group meeting September 12 2014 ldquoIntroduction to Genetics of Hearing Lossrdquo eAudiology webinar presentation American Academy of Audiology October 31 2013

ldquo Evaluation of a child with hearing Loss Are we close to an answerrdquo Department of Pediatrics Division of Genetics UNC Chapel Hill NC September 2013

ldquoUpdate on patients with Gaucher Disease on Cerezymerdquo Pediatric Hematology Oncology Board meeting VCUHS December 14 2011 ldquoA New Paradigm for Treatment of Inherited Metabolic Disordersrdquo Department of Pediatrics MCVHS - Grand Round Presentation May 31 2011 ldquoNewborn Hearing Screening Role of screening for Congenital CMV infectionrdquo Department of Epidemiology and Public Health Departmental seminar February 21 2011 ldquoNewborn Hearing Screening Past Present and Futurerdquo at Miami Institute of Human Genetics University of Miami FL January 2010

ldquoLate Onset and Progressive Hearing Lossrdquo for Letrsquos Talk AAP PA Teleconference November 18 2008

ldquoHow can we Enhance Existing Newborn Hearing Screening Programsrdquo VA AG Bell conference Williamsburg November 8 2008 IEM ldquoDietary treatment and need for school accommodationsrdquo VA School Nurse Coordinator Meeting Charlottesville October 6 2008 ldquoHow can Newborn Hearing Screening be Improvedrdquo At the 13th D Hayden Otology Symposium VCU SOM Richmond VA June 7 2008

ldquoMedical Home and the Metabolic Subspecialty Centerrdquo invited to present at the NYMAC Medical Home Seminar Philadelphia PA November 2 2007

ldquoDermatology for Pediatricians Skin findings in genetic syndromesrdquo VCU SOM Pediatric Resident lecture Department of Pediatrics VCU SOM November 30 2006

A Pandya MD 23

ldquoIdentification of Genes for Syndromic amp Non Syndromic Hearing Lossrdquo invited plenary session at ASHA San Diego CA November 18 2005

ldquoGenetics of Hearing Lossrdquo Human Genetics Departmental Research Seminar VCU SOM September 20 2005

ldquoMitochondrial Hearing Lossrdquo at the Newborn Screening for Hearing Loss Workgroup Mtg Rockville MD April 27th -28 2005

ldquoNon Syndromic Forms of Hearing Loss Molecular Mechanisms Recent Advances amp Clinical Applicationsrdquo 17th Annual AAA convention Washington DC March 31 2005

ldquoMolecular Advances in Non Syndromic Deafnessrdquo 8th Annual Pediatric Audiology Workshop Tucson AZ Jan 28-29 2005

ldquoEvaluation of an Individual with Hearing Lossrdquo 8th Annual Pediatric Audiology Workshop Tucson AZ Jan 28-29 2005

ldquoClinical Applications of Genetic Advances in Deafnessrdquo at the Twelfth Annual G Douglas Hayden Otology Symposium Richmond VA June 26 2004 ldquoMolecular Epidemiology of Genetic Deafnessrdquo Departmental Research Seminar Human Genetics VCU Feb 2004

ldquoGenes for Deafness and Results of Genetic Studies at Gallaudet Universityrdquo at the Genetics Disability and Deafness International Conference Gallaudet University Washington DC April 2 2003

ldquoMitochondrial Hearing Loss Molecular Newborn screening for Deafnessrdquo March of Dimes Symposium on Hereditary Deafness at the 46th ACMG meetings San Diego March 14 2003

ldquoNonsyndromic Hearing Loss Identifying Genes and Mechanismsrdquo at the AG Bell Research Symposium Washington DC July 28 2001

ldquoAdvances in Genetic Hearing Lossrdquo presented at the 9th Annual G Douglas Hayden Otology Symposium Richmond VA June 16 2001 ldquoConnexin-26 deafness in the United States Are we ready for the next millenniumrdquo presented at the 44th Clinical Genetic and March of Dimes meeting Palm Springs CA March 10 2000

ldquoNew Advances in Techniques and Treatmentsrdquo presented at a workshop entitled Genetics in the New Millennium Richmond VA Sept 17 1999 ldquoA New Era in the Genetics of Deafness Symphony of a Thousandrdquo presented at the 7th Annual Douglas Hayden Otology Symposium Richmond VA July 12 1999

ldquoGenetic Hearing Loss How common is itrdquo Presented at a CDC workshop entitled Genetics of Congenital Hearing Impairment July 7 1999

ldquoTuning into the Genetics of Hearingrdquo Moderator for the Education Session ASHG meetings Denver CO October 28 1998

ldquoGenetic Architecture of Deafnessrdquo presentation at Center for Inherited Diseases Johns Hopkins University Baltimore MD April 15 1998

ldquoMolecular Genetic Diagnosis for the Primary Care Physicianrdquo Medical Meeting at John Randolph Medical Center Hopewell VA April 14 1997

ldquoMapping the gene for Hereditary Pancreatitisrdquo First International Symposium on Hereditary Pancreatitis Pittsburgh PA April 4-5 1997

A Pandya MD 24

ldquoWhat can DNA diagnosis offer your patientrdquo Genetics Seminar Roslyn Conference Center Richmond VA June 7 1996

ldquoDNA diagnosis relevance to pediatricsrdquo Workshop on The New Genetics Williamsburg VA March 20 1995

ldquoAdvances in Molecular Diagnostics amp Therapyrdquo The 18th Annual Summer Retreat in Primary Care Virginia Beach VA August 12 1994

ldquoDNA Diagnosis Relevance to Obstetrics amp Pediatricsrdquo Genetics Seminar Richmond Historical Society May 6 1994

ldquoGenetic Advances in the Treatment and Diagnosis of Pediatric Hereditary Disordersrdquo 29th Annual Pediatric Springfest Williamsburg VA April 22-24 1994

International

ldquoManagement of Maternal Metabolic Disorders to ensure Fetal Well Beingrdquo presented at the 46th Annual National Conference of Nutritional Society of India DMC Ludhiana Punjab University India November 7 2014 ldquoMitochondrial Hearing Lossrdquo presented at the Ankara Biotechnology Days Turkey September 25 2003 ldquoGenetics of Hearing Lossrdquo presented to the Dept Of Audiology Nair Hospital Bombay University India January 3 2000 ldquoRole of Mitochondria in Hearing Lossrdquo invited presentation at the First Genetics conference in Otolaryngology held by the Otorhinolaryngology Branch of the Chinese Medical Association September 2 1999

Training Director 2011 ndash 2014 Genetic Residency Director RRC and ABMG certified Clinical Genetic

Fellowship Program 2005 ndash 2016 Clinical Molecular Fellowship training director- American Board of Medical

Genetics Lab or Research TrainingMentorships

Graduate Trainees

Dan Gallo (MS 2014) Genetic Counselor Washington University St Louis Kathleen Maher (MS 2013) Genetic Counselor EVMS Holly Paddock (MS 2009) Masters in Human Genetics Christine A Cordera (MS2008) Genetic Counselor University of Virginia Jill Ozmore (MS2004) Genetic Counselor in Massachusetts Kris Baldwin (MS2004) Genetic Counselor University of Arkansas Patty Rubal (MS 2003) Genetic Counselor Spectrum Health Grand Rapids MI Shelby Duffer (MS 2002) Genetic Counselor Genetics amp IVF Fairfax VA

A Pandya MD 25

Aimee Anido (MS 2002) Genetic Counselor Emory University Atlanta GA Jennifer English (MS2000) Genetic Counselor EVMS Norfolk VA Sandra Kateeshock (MS 2000) Genetic Counselor private perinatology practice VA Randy Rittamer (MS 1998) [Lost touch] Barbara Llewellyn (MS 1996) Faculty in Forensic Science Dept Univ of Illinois Springfield Kelly Rafferty (PhD Yr 3 2015) In her third year of training

Postdoctoral Trainees (3 months or longer) - Training position and current position

Tasha Strande (2016-present) Laboratory Genetics and Genomics Fellow (UNC) Peter Leahy (2016- present) Clinical Genetic Fellow (UNC) Alexander Arreola (2016- present) Clinical cytogenetic molecular Fellow (UNC) Ian King (2015-2016) Clinical Molecular Fellow (UNC) Natario Couser (2014 ndash 2016) Clinical Genetic Fellow (UNC) Andrea Popa (2014-2017) Clinical Molecular Fellow (VCU) Junqui Qian (2013-14) Molecular Pathology Fellow- Anatomic pathology MN Suketu Patel (2012-13) Molecular pathology fellow- Derm Path in Austin TX Richard Taylor (2011-13) Clinical Genetic Fellow- Part Time faculty with a private lab Michael Idowu (2011-12) Molecular Pathology fellow- faculty in Pathology MCV Michael Grinkemeyer (2010-11) Molecular Pathology Fellow Judith Hiemenga (2009-11) Clinical Genetics Fellow- Faculty at Spectra Health MI Jane Juusola (2009-10) Clinical Molecular Fellow-at GeneDx Ning Chen (2009-10) Molecular Pathology Fellow Alexander G (2007-09) Research Fellow- Finished ENT residency Shella Mongia (2007-08) Clinical Molecular Pathology Fellow Patrick Vitaska (2006-08) Clinical Molecular Fellow- At GeneDx Ranjitha Veerappan (2006-07) Clinical Molecular Pathology Fellow Michael Mogass (2003-04) Clinical Molecular Fellow Kelly Dodson (Mar-June 03) Associate Prof ENT faculty June 2005 Usha Sundaram (2001-03) Clinical Genetic Fellow Clinical faculty Genetics VCU Vivek Gupta (OctndashDec 01) ENT resident Private Practice ENT Atlanta GA Mustafa Tekin (1998-01) Clinical Genetic Fellow Division Chief Genetics amp

Pediatrics Univ of Miami FL Arlene Buller (1997-01) Clinical Molecular Fellow Associate Director Quest

Diagnostics CA Paddy Jim Baggot (1994-96) Clinical Genetic Fellow Practicing Maternal Fetal Medicine Jay Globe (1992-94) Clinical Genetic Fellow Practicing Maternal Fetal Medicine Bonnie Salbert (1991-92) Clinical Genetic Fellow Clinical Geneticist Alleghany

Hospitals PA

Undergraduate Student Preceptorship (6 weeks or longer)

Jeffrey Powell UNC

A Pandya MD 26

Ami Gokli NYU Prachie Narain Princeton University Mitzy Lazarchic William amp Mary Tina Sismanis William amp Mary Jimmy Sismanis William amp Mary Dhanya Puram VCU Mohadis Javaheri VCU Arti Jani VCU Selena Perkins Virginia Union University Sanjay Sharma MCV Aziz Amin MCV Brandi Dickenson Drexel University

High School Student Preceptorship

Rohini Manakhtala Stonewall Jackson HS (Project - Socio-ethical impact of Huntington rsquos disease) Grace Condro Governors School (Project on Hereditary Hearing Loss) Neha Bhatangar Governors School (One year research training) Kavya Rao (Project for Science Fair) D Vaughn (NIH summer program for high school students)

Visiting Scholars

Erdenetungalag Radnaabazar Visiting Physician Scientist from Mongolia Mustafa Tekin visiting scientist from Ankara University Turkey Clinical Teaching At UNC SOM The different groups of trainees are taught at the pre-clinic session each week and have one-on- one teaching when they sign up to see outpatient clinic patients as well as during inpatient consultations On average spend 5-15 hours depending on the rotation

- Clinical Genetic Fellows during their clinical and metabolic rotations - Pediatric and Med ndashPeds residents - Genetic Counseling students from UNC- G - Clinical cytogenetic fellow - Clinical Molecular Genetic Fellows - Molecular Pathology Fellows - Maternal Fetal Medicine Fellow

A Pandya MD 27

- M-4 students Attending on Clinical Service At UNC School of Medicine

February 2015-Present Attending Physician Outpatient-Medical and Metabolic Genetic clinics

three half-day clinics per week at UNC and Rex location February 2015-Present Inpatient consultant for General Genetics and Metabolic service for 12-16

weeks each year including weekend coverage At VCU School of Medicine 2008 ndash 2014 Attending Physician Outpatient Medical genetics Clinic four half day clinics

40-50 cases seen with medical students pediatric residents and genetic counseling students

2002 ndash 2014 Clinical Consultant for the Virginia State Metabolic Program Evaluate all newly

identified children with inborn errors of metabolism through the newborn screening program in Virginia roughly covering half of the State Provide long-term follow up and nutritional management along with a dietician Attend and staff 8 satellite clinics semiannually 4 in Newport News and 4 in Fredericksburg in addition to the follow up provided at VCU hospital Provide telephone consultation to all metabolism related queries of primary care physicians in central VA

1998 ndash 2014 Co-director for Genetic Molecular Diagnostic Laboratory in Department of

Pathology Responsible for interpretation of all molecular diagnostic tests performed for genetic disorders training clinical molecular fellows and molecular pathology fellows

1996 ndash 2014 Attending Physician Inpatient Pediatric Service at VCU one month each year

Teaching responsibilities for PL 1-3 pediatric and med-peds residents and third year medical students on pediatric clerkship

1993 ndash 2014 Attending Physician Inpatient Medical Genetics Consultation Service 3 months

each year offered at VCU hospitals amp 6 community hospitals in Richmond Have a student along for 65 of the time

1999 ndash 2008 Staffed a Deafness Clinic at the Gallaudet University once a month Attended by

genetic counseling students from the NIH program and audiology students 1991 ndash 2008 Attending Physician Outpatient Medical Genetics Clinic once a week 50-60

cases seen with fellow residents medical students and genetic counseling students

GRANTS

A Pandya MD 28

Pending NIH Genetic Studies of Auditory Neuropathy Spectrum Disorders [912017 ndash 8312018] R21

proposal (PI) NCTRACS (North Carolina Translational and Clinical Sciences Initiative) Genetic studies of Cochlear

nerve deficiency (PI) Translational Research Matched Pilot Grant Program 1-year grants Current NIH North Carolina Clinical Genomic Evaluation by Next-gen Exome Sequencing 2 (NCGENES2)

subcontract [0617-0521] (co-investigator 15 effort) NIH The Gabriella Miller Kids First Pediatric Research Program (X01) ldquoHear-lsquon-SEQ Sequencing

Kids First for Hearing subcontract [1016-0917] (Co-investigator no effort) Completed NIH (Phase I SBIR grant) Confirmatory Screening for Congenital non-syndromic genetic hearing loss using tandem parallel sequencing $15000 subcontract [0113- 0613] (PI 8 effort) NIH (1RO1 DC006707-01) Genetic Deafness in the Alumni of Gallaudet University $650206 VCU subcontract [404- 309] (PI 10 effort)

NIH (1RO1-DC05831-01A1) Potential Societal Impact of Advances in Genetic Deafness $1287000 [803-707] (PI 30 effort)

NIH (1R01 DC04293-01A1) Creation of a DNA Repository to Identify Deafness Genes $2967432 [70100-6 30 05] (Co-PI 10 effort) NIH (1R25DC05543-01) Summer Program in Genetics for Audiology Faculty Subcontract $40482 [50102 - 33004] (PI 5 effort) No cost extension for 6 months NIH (DC04902) Newborn Screening for Hearing Impairment Subcontract Phase I $32000 Phase II $261471 [30101 - 83103] (Co-PI 5 effort)

NIH (1K08 HD01172-01A1) Deafness in WS1 Search for Genetic Modifiers $507523 [898-1203] (PI 70 effort) NIH (RO1HD30252-01A2) Genetic effects of Genomic Imprinting on Body Size 178213 [794-698]

NIH (R01 DC02530-01A2) Genetic Studies of Non-Syndromic Deafness $2058903 [797-702]

(Co-PI) NIH Childrens Health Research Center in Developmental Biology Award (subproject) Genetic

Linkage Study of Sitosterolemia $50000 [1294-12-96] (PI) March of Dimes Effects of Genomic Imprinting on Human Birth Weight and Body Size $137003

[494-396]

State Contracts

A Pandya MD 29

North Carolina State Contract UNC-Genetics Services Contract NC DHHS-DPH 00033691 (Pandya) $674354 6116-53117

Virginia State Contract Genetic and Metabolic Treatment Services $337736 [Annual contract renewed each year (PI November 2011-November 2014

Virginia State Contract Metabolic Resources Grant $140970 [70106 - 63007] (PI 30 effort) renewed each year

CHRB Award Evaluation of mitochondrial gene sequence variants as biomarkers of aminoglycoside induced renal injury in newborn infants $100000 [01012010 to 063012] co-investigator 5 effort)

Richmond Eye amp Ear Foundation Award Early Detection and Intervention of Congenital Cytomegalovirus Associated Hearing Loss $44000 [010110- 123110] [010111 ndash 123111 no cost extension phase] (PI)

A D Williams Award Enhancing Early Detection of Hearing Loss by Newborn Molecular Screening of Common Deafness Genes $22635 [100107- 093008] PI

Tm Bioscience ACMGF Award Promoting Safe amp Effective Genetic Testing and services $11000 subcontract to VCU [406-307] PI

NYMAC Case Management of Children Diagnosed by Statesrsquo NBS Programs $40000 [705-607] PI

GENZYME Expanded Access Use of Recombinant Human Acid-a-Glucosidase (Myozyme) in Patient with Infantile-Onset Pompe Disease $ 8275 [405-406] PI American Heart Association Grant-in-Aid Genetic Studies of Sitosterolemia $64000 [795-697] (PI) AD Williams Award Genetic Studies of Sitosterolemia $10000 [994-995] (PI)

PROFESSIONAL SERVICE Memberships in Professional Organizations

American College of Medical Genetics 2007- present American Society of Human Genetics 1987- present Virginia Early Hearing Detection and Intervention Program Advisory Committee Jan 2008 ndash Nov 2014 Metabolic Advisory Board Subcommittee VA department of health 2005 - Nov 2014 Genetics Advisory Board Department of Health VA 2003 - Nov 2014 National Newborn Screening and Translational Clinical Centers Workgroup HRSAACMG 2008 - 2012

A Pandya MD 30

New York Mid Atlantic Consortium workgroup member 2005 - 2012

To Discipline StateNationalInternational offices or committees

Member of NCC (National Coordinating Center) Newborn Screening Workgroup invited through ACMG with a charter to develop recommendations for hearing screening and diagnostic evaluation for children from birth to school age March 2017- Present Invited member- ClinGen Expert Panel on Genetic Hearing Loss Goal is to curate the sequence variants in genes causing hearing loss and catalogue them as a reference June 2016- Present Abstract review Committee 66th Annual ASHG meeting Topic Genetic Counseling ELSI Education and Health Services Research May 2016 American College for Genetic Counselling (ACGC) Site visit team member for University of Maryland Program November 16th-17th 2015 Health Connect South Precision Medicine and the Interconnectivity of Health Invited panelist for discussion of The Game Changer of Health Precision Medicine Panel Session held at Research Biotechnology Park Durham NC November 10th 2015 Moderator 65th Annual ASHG meeting for Session 31 GeneticGenomics Education From Pupils to Parents October 8th 2015 Invited to Participate in Standard Setting for the ABMGG General Certification Examination American Board of Medical Genetics and Genomics September 2015 Abstract Review Committee 65th Annual ASHG meeting Topic 13 GeneticsGenomics Education June 2015

Abstract Review Committee 65th Annual ASHG meeting Topic 15 Health Services Research June 2015 Hyperion Therapeutics Health Care Provider Advisory Board participant for Urea Cycle Defect December 12 2014 Mentor for Trainee Mentor Lunch 64th Annual ASHG meeting October 20 2014 Moderator 64th Annual ASHG meeting for Session 58 GeneticGenomic Education and Service Delivery October 20 2014 MOC question writing team member for Molecular Genetics MOC Part II ABMGG July 2014 Abstract Review Committee ASHG 64th annual meeting Topic 15 Health Services Research May 2014

A Pandya MD 31

Abstract Review Committee ASHG 64th annual meeting Topic 13 GeneticsGenomics Education May 2014 American College for Genetic Counselling (ACGC) Site visit team member for USC program February 2014 Virginia State Genetic Advisory subcommittee for metabolic screening 2006 -2014 Virginia State Genetic Advisory Board 2003 -2014 Virginia State Genetic Advisory Committee 2002-2014 Regional Mentor for National AAP project- ldquoGenetics in Primary Care Institute Quality Improvement Project (GPCI- QIP) March 2013-November 2013 American College for Genetic Counselling (ACGC) Site visit team member for UAB program February 2013 NBSTRN- chair for subcommittee on Long Term Follow up of Hearing Loss 2011- 2012 Virginia State genetic Advisory Committee interim chair 2011 -2012 NBSTRN National Newborn Screening Translation clinical centers workgroup- active member 2009 - 2012 NYMAC Member in workgroup assessing issues of Medical Home for individuals with special needs 2007-2009 NYMAC member in workgroup on standardization of newborn screening practices in the region 2007-2009 Virginia Early Hearing Detection and Intervention Program Advisory Committee member since January 2008 NYMAC (New York and Mid Atlantic Consortium) Member for Workgroup I looking at Barriers to Care of children with genetic disorders August 2005-2007 Virginia State Genetic Advisor Emergency Regulations for Newborn Screening Expanded Panel Work Group 2005-2007 Virginia State Genetic Advisory Subcommittee for implementation of expanded NBS 2004-2006 American Society of Human Genetics (ASHG) Information amp Education Committee 2001- 2004 Virginia State Genetic Advisory Subcommittee for MCAD implementation 2003 ASHG ad hoc member on Committee for student award selection 2001 amp 2002 Invited to be on the Expert Panel developing ldquoGuidelines for the Genetic Evaluation of Hearing Lossrdquo sponsored by ACMG July 2001 Newborn Hearing Subcommittee of the Public Health Genetics Committee American College of Medical Genetics (ACMG) 2000

At UNC ndashChapel Hill Committees

Co-Chair for Day and Evening of Scholarship for trainees in Pediatrics Department of Pediatrics UNC Chapel Hill April 28th 2016 and April 20th 2017 Invited speaker to AED annual meeting Role model of physicians with dual degrees Nov 13th 2015 and September 22nd2016

A Pandya MD 32

ACCLAIM (Academic Career Leadership Academy in Medicine) annual three-day retreat an intensive leadership workshop Nov 3-5 2015

Leadership Course for Division Chiefs- led by Dr Jeffrey Houpt and Susan Ehringhaus three sessions ndash Mar Apr and Oct 2016

At VCU SOM Committees

Deans Representative on multiple PhD and Masters Defense VCU SOM 2001 -2914 Graduate Student Curriculum Committee HMG Dept VCU 2001- 2014

Graduate Student Admissions Committee HMG Dept VCU 1997 to 2014 Clinical Geneticist Search Committee HMG Dept VCU 2013 Tenure review committee Dr Dodson Department of Otolaryngology 2013 Clinical Geneticist Search Committee HMG Dept VCU 2012 Secretary of faculty to the SOM Executive Committee of the Faculty VCU SOM 2008-2009 Member of the search committee for the Chair of Human Genetics VCU SOM 2008 AD Williams Research Advisory Committee VCU SOM 2003-2008 AD Williams Research Advisory Committee VCU SOM Chairperson 2005-2006 Member of SOM Committee on the Status of Women amp Minorities VCU SOM 2002-2006

Tenure Review committee for Dr S Elsea VCU 2005 Tenure Review committee for Dr H Maes VCU 2005

Pediatric Intensivist Search Committee VCU 2004 Internal Review Committee member for RRC Dept of Neurology VCU SOM Jan 2004

Pediatric Endocrinologist Search Committee VCU 2003 Internal Review Committee member for RRC Division of Infectious Disease VCU SOM 2002

MATR Access Advisory Committee VCU 1999 - 2002 Ad Hoc Committee on Research Involving Biological Tissues VCU SOM Dec 2000 - Jan 2001 DNA Sequencing Core Lab Oversight Committee VCU SOM Dec 2000 - Dec 2001 Internal Review Committee member for RRC Dept of Family Practice VCU SOM 2000 Invited Speaker Committee HMG Dept VCU 1998 - 2000

Molecular Geneticist Search Committee VCU 1997

Other Journal Reviewer

Molecular Genetics and Genomic Medicine (513)

A Pandya MD 33

Hearing and Research (712) American Journal of Medical Genetics (403 806 907 308 508 510 612 115 416) International Journal of Audiology (312) International Journal of Pediatric Otorhinology (808 1108 410) European Journal of Human Genetics (1109) Human Genetics (601 603 508 509 115 316) American Journal of Human Genetics (200 309) Otorhinology (708) Ear amp Hearing (403 106 1107 508) Clinical Genetics (1107) Genetics in Medicine (604 307) Neurobiology of Aging (1106) Human Mutation (504) Journal Medical Genetics (603) Journal of Clinical Laboratory Analysis (102) Gene Clinics (601) Genomics (999) Site Reviewer American College for Genetic Counseling (ACGC) Site visit team member for University of Toronto Program October 21st -23rd 2017 American College for Genetic Counseling (ACGC) Site visit team member for University of Maryland Program November 16th-17th 2015 American College for Genetic Counseling (ACGC) Site visit team member for University of Alabama GC program February 19-19 2013 American College for Genetic Counseling (ACGC) Site visit team member for Brandeis University December 4-5 2007 Within Community

Presentation on ldquoA Glimpse into the Indian Subcontinent-The largest Democracyrdquo- 4th grade students at Collegiate School Richmond VA May 16th 2013 Presentation on ldquoReligion and Culture in Indiardquo- 4th grade students at Collegiate School Richmond VA May 2012 Presentation on ldquoReligions and Culture on the Indian Subcontinent A Melting potrdquo- 4th grade students at Collegiate School Richmond VA May 12 2011 Presentation on Societal Structure Beliefs and Practices in the Hindu Culture- 4th grade students at Collegiate School Richmond VA May 2010 Presentation on Indian Religions and Sociology- 4th grade at Collegiate School Richmond VA May 14th 2009 Presentation on the Hindu culture and Indus valley civilization- 5th grade at Collegiate School Richmond VA March 2008

A Pandya MD 34

Presentation on Hinduism and the culture of Indian Subcontinent- 5th grade at Collegiate School Richmond VA November 2006 Admissions orientation committee Collegiate Lower School 2005 2006 Lecturer at the St Christopherrsquos School Richmond VA for Science Fair on Wonders of DNA 2002 Presented a lecture on Mysteries Surrounding Gene Therapy to A New Comers Club of Richmond Virginia 2000 Served on a panel on ldquoA Bio-ethical Considerations in Mapping the Human Genomerdquo as a part of the Bio-ethics 2000 initiative by the Science Museum of Virginia 2000 Mentor for high school students doing research from Governors School 1999-2000 Served on a panel on Bio-ethical Issues in Genetic Testing hosted as a part of Bioethics 2000 initiative by the Science Museum of Virginia 1999 Lecturer for the 3rd annual Women in Medicine Mentorship Day Program 1997 Lecturer for Introduction to Human Genetics taught to high school students from the Talented and Gifted Program Powhatan High School 1996 Lecturer for Molecular Laboratory Tour MCV A Mini Medical School 1994 amp 1995

OLE_LINK1