Education and Training

Medical School

MD, PhD - University of Massachusetts Medical School, Worcester, Massachusetts


Pediatrics and Medical Genetics Combined Residency Program, Children’s Hospital of Philadelphia


Human Genetics - Children's Hospital of Philadelphia, PA

Post-Doctoral Fellowship, Center for Applied Genomics, Children’s Hospital of Philadelphia

Titles and Academic Titles

Attending Physician

Departments and Services




Wild KT, Nomakuchi TT, Sheppard SE, Leavens KF, De León DD, Zackai EH. Hyperinsulinism in an individual with an EP300 variant of Rubinstein-Taybi syndrome. Am J Med Genet A. 2021 Jan 14;. doi: 10.1002/ajmg.a.62085. [Epub ahead of print] PubMed PMID: 33442921.

Li D*, Sheppard SE*, Peroutka C, Barnes C, Reid JR, Smith CL, Dori Y, Hakonarson H. Expanded phenotypic spectrum of JAG1-associated diseases: Central conducting lymphatic anomaly with a pathogenic variant in JAG1. Clin Genet. 2021 Jan 12;. doi: 10.1111/cge.13915. [Epub ahead of print] PubMed PMID: 33433009.


Sheppard SE, Barrett B, Muraresku C, McKnight H, De Leon DD, Lord K, Ganetzky R. Heterozygous recurrent HNF4A variant p.Arg85Trp causes Fanconi renotubular syndrome 4 with maturity onset diabetes of the young, an autosomal dominant phenocopy of Fanconi Bickel syndrome with colobomas. Am J Med Genet A. 2020 Nov 30;. doi: 10.1002/ajmg.a.61978. [Epub ahead of print] PubMed PMID: 33251707.

Foster JB, Li D, March ME, Sheppard SE, Adams DM, Hakonarson H, Dori Y. Kaposiform lymphangiomatosis effectively treated with MEK inhibition. EMBO Mol Med. 2020 Oct 7;12(10):e12324. doi: 10.15252/emmm.202012324. Epub 2020 Sep 7. PubMed PMID: 32894644; PubMed Central PMCID: PMC7539180.

Traub ES, Sheppard SE, Dori Y, Burns KD, Zackai EH, Ware SM, Landis BJ, Li D, Weaver DD. Chromosome 4q28.3q32.3 duplication in a patient with lymphatic malformations, craniosynostosis, and dysmorphic features. Clin Dysmorphol. 2020 Sep 10;. doi: 10.1097/MCD.0000000000000347. [Epub ahead of print] PubMed PMID: 32925199.

Muir AM, Cohen JL, Sheppard SE, Guttipatti P, Lo TY, Weed N, Doherty D, DeMarzo D, Fagerberg CR, Kjærsgaard L, Larsen MJ, Rump P, Löhner K, Hirsch Y, Zeevi DA, Zackai EH, Bhoj E, Song Y, Mefford HC. Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities. Am J Hum Genet. 2020 May 7;106(5):623-631. doi: 10.1016/j.ajhg.2020.03.009. Epub 2020 Apr 9. PubMed PMID: 32275884; PubMed Central PMCID: PMC7212259.

Sheppard SE, Smith A, Grand K, Pogoriler J, Rubin AI, Schindewolf E, Fitzgerald MP, Moldenhauer J, Laje P, Peranteau W, Bhoj E, McMahon P, Castelo-Soccio L. Further delineation of the phenotypic spectrum of nevus comedonicus syndrome to include congenital pulmonary airway malformation of the lung and aneurysm. Am J Med Genet A. 2020 Apr;182(4):746-754. doi: 10.1002/ajmg.a.61490. Epub 2020 Jan 21. PubMed PMID: 31961058.


Sheppard SE, Lalonde E, Adzick NS, Beck AE, Bhatti T, De Leon DD, Duffy KA, Ganguly A, Hathaway E, Ji J, Linn R, Lord K, Randolph LM, Sajorda B, States L, Conlin LK, Kalish JM. Androgenetic chimerism as an etiology for Beckwith-Wiedemann syndrome: diagnosis and management. Genet Med. 2019 Nov;21(11):2644-2649. doi: 10.1038/s41436-019-0551-9. Epub 2019 May 31. PubMed PMID: 31147633.

Sheppard SE*, Anderson LE*, Sibbald C, Cotton C, Bhoj E, Perman MJ, Castelo-Soccio L. Generalized, severe epidermolysis bullosa simplex caused by a Keratin 5 p.E477K mutation. Pediatr Dermatol. 2019 Nov;36(6):1007-1009. doi: 10.1111/pde.13965. Epub 2019 Oct 3. PubMed PMID: 31579952.

Murali CN, McDonald-McGinn DM, Wenger TL, McDougall C, Stroup BM, Sheppard SE, Taylor J, Bartlett SP, Bhoj EJ, Zackai EH, Santani A. Muenke syndrome: Medical and surgical comorbidities and long-term management. Am J Med Genet A. 2019 Aug;179(8):1442-1450. doi: 10.1002/ajmg.a.61199. Epub 2019 May 20. PubMed PMID: 31111620; PubMed Central PMCID: PMC6959001.

Agawu A, Sheppard S, Lin HC. A Novel VPS33B Mutation Causing a Mild Phenotype of Arthrogryposis, Renal dysfunction, and Cholestasis Syndrome. J Pediatr Gastroenterol Nutr. 2019 Aug;69(2):e55-e56. doi: 10.1097/MPG.0000000000002306. PubMed PMID: 31343487.

Banka S, Sayer R, Breen C, Barton S, Pavaine J, Sheppard SE, Bedoukian E, Skraban C, Cuddapah VA, Clayton-Smith J. Genotype-phenotype specificity in Menke-Hennekam syndrome caused by missense variants in exon 30 or 31 of CREBBP. Am J Med Genet A. 2019 Jun;179(6):1058-1062. doi: 10.1002/ajmg.a.61131. Epub 2019 Mar 20. PubMed PMID: 30892814.

Sheppard S, Herrick H, Ahrens-Nicklas RC, Cohen JL, Flibbotte J, Pyle LC. Case 2: Severe Hyperammonemia in a Neonate: An Alternate Ending. Neoreviews. 2019 Feb;20(2):e90-e92. doi: 10.1542/neo.20-2-e90. PubMed PMID: 31261090; PubMed Central PMCID: PMC6645685.

Sheppard S, Ficicioglu C. Methylmalonic acidemia . In: UpToDate. Post T, editor. Waltham, MA: UpToDate; 2019.


Sheppard S*, Biswas S*, Li MH*, Jayaraman V, Slack I, Romasko EJ, Sasson A, Brunton J, Rajagopalan R, Sarmady M, Abrudan JL, Jairam S, DeChene ET, Ying X, Choi J, Wilkens A, Raible SE, Scarano MI, Santani A, Pennington JW, Luo M, Conlin LK, Devkota B, Dulik MC, Spinner NB, Krantz ID. Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss. Genet Med. 2018 Dec;20(12):1663-1676. doi: 10.1038/s41436-018-0004-x. Epub 2018 Jun 15. PubMed PMID: 29907799; PubMed Central PMCID: PMC6295269.

Campbell IM*, Sheppard SE*, Crowley TB, McGinn DE, Bailey A, McGinn MJ, Unolt M, Homans JF, Chen EY, Salmons HI, Gaynor JW, Goldmuntz E, Jackson OA, Katz LE, Mascarenhas MR, Deeney VFX, Castelein RM, Zur KB, Elden L, Kallish S, Kolon TF, Hopkins SE, Chadehumbe MA, Lambert MP, Forbes BJ, Moldenhauer JS, Schindewolf EM, Solot CB, Moss EM, Gur RE, Sullivan KE, Emanuel BS, Zackai EH, McDonald-McGinn DM. What is new with 22q? An update from the 22q and You Center at the Children's Hospital of Philadelphia. Am J Med Genet A. 2018 Oct;176(10):2058-2069. doi: 10.1002/ajmg.a.40637. PubMed PMID: 30380191; PubMed Central PMCID: PMC6501214.


Sheppard SE, Marecki HL, Psoinos CM, Movahedi B, Furman MJ, Bozorgzadeh A, Martins PN. Acute Appendicitis after Liver Transplantation: A Case Report and Review of the Literature. Int J Organ Transplant Med. 2017;8(4):208-212. Epub 2017 Nov 1. PubMed PMID: 29321837; PubMed Central PMCID: PMC5756903.


Kok FO, Shin M, Ni CW, Gupta A, Grosse AS, van Impel A, Kirchmaier BC, Peterson-Maduro J, Kourkoulis G, Male I, DeSantis DF, Sheppard-Tindell S, Ebarasi L, Betsholtz C, Schulte-Merker S, Wolfe SA, Lawson ND. Reverse genetic screening reveals poor correlation between morpholino-induced and mutant phenotypes in zebrafish. Dev Cell. 2015 Jan 12;32(1):97-108. doi: 10.1016/j.devcel.2014.11.018. Epub 2014 Dec 18. PubMed PMID: 25533206; PubMed Central PMCID: PMC4487878.

Awards and Honors

2019-2021, Institute for Translational Medicine and Therapeutics of the Perelman School of Medicine at the University of Pennsylvania, Tuition Scholarship

2020, American Society of Human Genetics Annual Meeting 2020 “Reviewers’ Choice” award, Virtual Meeting

2020, Association for Clinical and Translational Sciences Outstanding Trainee: Post-Doctoral Award

2019, Lymphatic Education & Research Network (LE&RN) Travel Award, The Lymphatic Forum, Austin, Texas, USA

2019, Children’s Hospital of Philadelphia Distinguished Research Trainee Award (Physician-Fellow Category)

2018, Children’s Hospital of Philadelphia Distinguished Research Trainee Award (Physician-Fellow Category) Nominee

2018, Children’s Hospital of Philadelphia Senior Resident Research Award

2018, The Peter Duncan Award for Outstanding Platform Presentation by a Trainee, The 39th Annual David W. Smith Workshop on Malformations and Morphogenesis, Banff, Canada

2018, Dian Donnai Trainee Prize, The Manchester Dysmorphology Conference, Manchester, England

Leadership and Memberships

Memberships in Professional Organizations

2015-present, American Academy of Pediatrics

2008-present, American Physician Scientists Association Member