Sarah E. Sheppard, MD, PhD, MSTR, FACMG
About Sarah E. Sheppard, MD, PhD, MSTR, FACMG
Titles
Attending Physician
Certifications
Clinical Genetics and Genomics – American Board of Medical Genetics and Genomics
Pediatrics – American Board of Pediatrics
Awards and Honors
2022, John M. Opitz Young Investigator Award
2021, NIH Distinguished Scholar
2021, Emerging Leaders Scholarship, 1st International Scientific Meeting for PIK3CA related conditions
2020, Selected by the Lymphangiomatosis and Gorham’s Disease Alliance to be sponsored for the Uplifting Athletes Young Investigator Draft
2020, Selected to apply for Children’s Hospital of Philadelphia K-readiness Award
2020, American Society of Human Genetics Annual Meeting 2020 “Reviewers’ Choice” award, Virtual Meeting
2020, Children’s Hospital of Philadelphia NIH Director’s Early Independence Award (DP5) applicant (selected as 1 of 2 applicants to apply for DP5)
2020, Association for Clinical and Translational Sciences Outstanding Trainee: Post-Doctoral Award
2019-2021, Institute for Translational Medicine and Therapeutics of the Perelman School of Medicine at the University of Pennsylvania, Tuition Scholarship
2019, Children’s Hospital of Philadelphia NIH Director’s Early Independence Award (DP5) applicant (selected as 1 of 2 applicants to apply for DP5)
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, Dian Donnai Trainee Prize, The Manchester Dysmorphology Conference, Manchester, England
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, Children’s Hospital of Philadelphia Senior Resident Research Award
2018, Children’s Hospital of Philadelphia Distinguished Research Trainee Award Nominee (Physician-Fellow Category)
2014, Massachusetts Institute of Technology Alumni Volunteer Spotlight (for Alumni Giving Campaign)
2005, Tau Beta Pi Engineering Honor Society
Leadership and Memberships
Memberships in Professional Organizations
2022-present, Pediatric Dermatology Research Alliance
2021-present, International Society for the Study of Vascular Anomalies
2020-present, Chan Zuckerberg Initiative Lymphatic Research Network
2020-present, American Academy of Pediatrics, Fellow
2019-present, Lymphatic Education and Research Network, Supporting Member
2019-present, American College of Medical Genetics and Genomics, Fellow
2018-present, American Society for Human Genetics
Editorial and Academic Positions
Editorial Positions
Ad hoc Reviewer
2023-present, JAMA Network Open
2022-present, Prenatal Diagnosis
2022-present, Pediatrics
2022-present, Journal of Intellectual Disability Research
2022-present, Genetics in Medicine
2022-present, PLOS Genetics
2022-present, Clinical Genetics
2021-present, European Journal of Human Genetics
2021-present, Cold Spring Harbor Molecular Case Studies
2021-present, Human Genetics and Genomics Advances
2020-present, Ophthalmic Genetics
2019-present, American Journal of Medical Genetics
2019-present, Human Genetics
2018-present, Pediatric Research
Education & training
Graduate Degree
PhD in Genetics, Vascular Development, Bioinformatics - University of Massachusetts Medical School, Worcester, MA
MS in Translational Research - University of Pennsylvania, Philadelphia, PA
Medical Degree
MD - University of Massachusetts Medical School, Worcester, MA
Residency
Pediatrics and Medical Genetics - Children’s Hospital of Philadelphia, Philadelphia, PA (Chief Resident)
Fellowship
Post-Doctoral Fellowship, T32 Trainee - Children’s Hospital of Philadelphia, Philadelphia, PA
Publications
Publications
2023
Bolli A, Nriagu B, Britt AD, Toole AD, Treat J, Srinivasan A, Sheppard SE. Mosaic pathogenic variants in AKT3 cause capillary malformation and undergrowth. Am J Med Genet A. 2023 Jan 25;. doi: 10.1002/ajmg.a.63121. [Epub ahead of print] PubMed PMID: 36695285.
2022
Byrne AB, Brouillard P, Sutton DL, Kazenwadel J, Montazaribarforoushi S, Secker GA, Oszmiana A, Babic M, Betterman KL, Brautigan PJ, White M, Piltz SG, Thomas PQ, Hahn CN, Rath M, Felbor U, Korenke GC, Smith CL, Wood KH, Sheppard SE, Adams DM, Kariminejad A, Helaers R, Boon LM, Revencu N, Moore L, Barnett C, Haan E, Arts P, Vikkula M, Scott HS, Harvey NL. Pathogenic variants in MDFIC cause recessive central conducting lymphatic anomaly with lymphedema. Sci Transl Med. 2022 Mar 2;14(634):eabm4869. doi: 10.1126/scitranslmed.abm4869. Epub 2022 Mar 2. PMID: 35235341.
Liu M, Smith CL, Biko DM, Li D, Pinto E, O'Connor N, Skraban C, Zackai EH, Hakonarson H, Dori Y, Sheppard SE. Genetics etiologies and genotype phenotype correlations in a cohort of individuals with central conducting lymphatic anomaly. Eur J Hum Genet. 2022 May 24. doi: 10.1038/s41431-022-01123-9. Epub ahead of print. Erratum in: Eur J Hum Genet. 2022 Jun 3;: PMID: 35606495.
Szigety KM, Crowley TB, Gaiser KB, Chen EY, Priestley JRC, Williams LS, Rangu SA, Wright CM, Adusumalli P, Ahrens-Nicklas RC, Calderon B, Cuddapah SR, Edmondson A, Ficicioglu C, Ganetzky R, Kalish JM, Krantz ID, McDonald-McGinn DM, Medne L, Muraresku C, Pyle LC, Zackai EH, Campbell IM*, Sheppard SE*. Clinical Effectiveness of Telemedicine-Based Pediatric Genetics Care. Pediatrics. 2022 Jun 1:e2021054520. doi: 10.1542/peds.2021-054520. Epub ahead of print. PMID: 35642503.
Kayumi S, Pérez-Jurado LA, Palomares M, Rangu S, Sheppard SE, Chung WK, Kruer MC, Kharbanda M, Amor DJ, McGillivray G, Cohen JS, García-Miñaúr S, van Eyk CL, Harper K, Jolly LA, Webber DL, Barnett CP, Santos-Simarro F, Pacio-Míguez M, Pozo AD, Bakhtiari S, Deardorff M, Dubbs HA, Izumi K, Grand K, Gray C, Mark PR, Bhoj EJ, Li D, Ortiz-Gonzalez XR, Keena B, Zackai EH, Goldberg EM, Perez de Nanclares G, Pereda A, Llano-Rivas I, Arroyo I, Fernández-Cuesta MÁ, Thauvin-Robinet C, Faivre L, Garde A, Mazel B, Bruel AL, Tress ML, Brilstra E, Fine AS, Crompton KE, Stegmann APA, Sinnema M, Stevens SCJ, Nicolai J, Lesca G, Lion-François L, Haye D, Chatron N, Piton A, Nizon M, Cogne B, Srivastava S, Bassetti J, Muss C, Gripp KW, Procopio RA, Millan F, Morrow MM, Assaf M, Moreno-De-Luca A, Joss S, Hamilton MJ, Bertoli M, Foulds N, McKee S, MacLennan AH, Gecz J, Corbett MA. Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants. Genet Med. 2022 Sep 9:S1098-3600(22)00897-8. doi: 10.1016/j.gim.2022.08.006. Epub ahead of print. PMID: 36083290.
Snijders Blok L, Verseput J, Rots D, Venselaar H, Innes AM, Stumpel C, Õunap K, Reinson K, Seaby EG, McKee S, Burton B, Kim K, van Hagen JM, Waisfisz Q, Joset P, Steindl K, Rauch A, Li D, Zackai EH, Sheppard SE, Keena B, Hakonarson H, Roos A, Kohlschmidt N, Cereda A, Iascone M, Rebessi E, Kernohan KD, Campeau PM, Millan F, Taylor JA, Lochmüller H, Higgs MR, Goula A, Bernhard B, Velasco DJ, Schmanski AA, Stark Z, Gallacher L, Pais L, Marcogliese PC, Yamamoto S, Raun N, Jakub TE, Kramer JM, den Hoed J, Fisher SE, Brunner HG, Kleefstra T. A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder. HGG Adv. 2022 Nov 1;4(1):100157. doi: 10.1016/j.xhgg.2022.100157. PMID: 36408368; PMCID: PMC9673101.
2021
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.
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.
Parker JC, Rangu S, Grand KL, Bhoj EJ, Castelo-Soccio L, Sheppard SE. Genetic skin disorders: The value of a multidisciplinary clinic. Am J Med Genet A. 2021 Jan 27;. doi: 10.1002/ajmg.a.62095. [Epub ahead of print] PubMed PMID: 33502802.
Matalon DR, Stevenson DA, Bhoj EJ, Santani AB, Keena B, Cohen MS, Lin AE, Sheppard SE*, Zackai EH*. Congenital polyvalvular disease expands the cardiac phenotype of the RASopathies. Am J Med Genet A. 2021 Mar 8. doi: 10.1002/ajmg.a.62146. Epub ahead of print. PMID: 33683002.
Sheppard SE, Campbell IM, Harr MH, Gold N, Li D, Bjornsson HT, Cohen JS, Fahrner JA, Fatemi A, Harris JR, Nowak C, Stevens CA, Grand K, Au M, Graham JM Jr, Sanchez-Lara PA, Campo MD, Jones MC, Abdul-Rahman O, Alkuraya FS, Bassetti JA, Bergstrom K, Bhoj E, Dugan S, Kaplan JD, Derar N, Gripp KW, Hauser N, Innes AM, Keena B, Kodra N, Miller R, Nelson B, Nowaczyk MJ, Rahbeeni Z, Ben-Shachar S, Shieh JT, Slavotinek A, Sobering AK, Abbott MA, Allain DC, Amlie-Wolf L, Au PYB, Bedoukian E, Beek G, Barry J, Berg J, Bernstein JA, Cytrynbaum C, Chung BH, Donoghue S, Dorrani N, Eaton A, Flores-Daboub JA, Dubbs H, Felix CA, Fong CT, Fung JLF, Gangaram B, Goldstein A, Greenberg R, Ha TK, Hersh J, Izumi K, Kallish S, Kravets E, Kwok PY, Jobling RK, Knight Johnson AE, Kushner J, Lee BH, Levin B, Lindstrom K, Manickam K, Mardach R, McCormick E, McLeod DR, Mentch FD, Minks K, Muraresku C, Nelson SF, Porazzi P, Pichurin PN, Powell-Hamilton NN, Powis Z, Ritter A, Rogers C, Rohena L, Ronspies C, Schroeder A, Stark Z, Starr L, Stoler J, Suwannarat P, Velinov M, Weksberg R, Wilnai Y, Zadeh N, Zand DJ, Falk MJ, Hakonarson H, Zackai EH, Quintero-Rivera F. Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome. Am J Med Genet A. 2021 Jun;185(6):1649-1665. doi: 10.1002/ajmg.a.62124. Epub 2021 Mar 30. PubMed PMID: 33783954.
Li M, Glass J, Du X, Dubbs H, Harr MH, Falk M, Smolarek T, Hopkin RJ, Zackai E, Sheppard SE. Trisomy 9 Mosaic syndrome: Sixteen additional patients with new and/or less commonly reported features, literature review, and suggested clinical guidelines. Am J Med Genet A. 2021 May 10;. doi: 10.1002/ajmg.a.62251. [Epub ahead of print] PubMed PMID: 33969943.
Škorić-Milosavljević D, Lahrouchi N, Bosada FM, Dombrowsky G, Williams SG, Lesurf R, Tjong FVY, Walsh R, El Bouchikhi I, Breckpot J, Audain E, Ilgun A, Beekman L, Ratbi I, Strong A, Muenke M, Heide S, Muir AM, Hababa M, Cross L, Zhou D, Pastinen T, Zackai E, Atmani S, Ouldim K, Adadi N, Steindl K, Rauch A, Brook D, Wilsdon A, Kuipers I, Blom NA, Mulder BJ, Mefford HC, Keren B, Joset P, Kruszka P, Thiffault I, Sheppard SE, Roberts A, Lodder EM, Keavney BD, Clur SB, Mital S, Hitz MP, Christoffels VM, Postma AV, Bezzina CR. Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot. Genet Med. 2021 Jun 10;. doi: 10.1038/s41436-021-01212-y. [Epub ahead of print] PubMed PMID: 34113005.
Nriagu BN, Sanders VR, Bercovitch L, Snyder K, Cross EA, Treat JR, Sheppard SE. Misdiagnosis of capillary malformations in darker skin phototypes. Pediatr Dermatol. 2021 Sep 28. doi: 10.1111/pde.14787. Epub ahead of print. PMID: 34585435.
Gold NB, Campbell IM, Sheppard SE, Tan WH. Proposed criteria for nevoid basal cell carcinoma syndrome in children assessed using statistical optimization. Sci Rep. 2021 Oct 5;11(1):19791. doi: 10.1038/s41598-021-98752-9. PMID: 34611197; PMCID: PMC8492651.
Fasham J, Lin S, Ghosh P, Radio FC, Farrow EG, Thiffault I, Kussman J, Zhou D, Hemming R, Zahka K, Chioza BA, Rawlins LE, Wenger OK, Gunning AC, Pizzi S, Onesimo R, Zampino G, Barker E, Osawa N, Rodriguez MC, Neuhann TM, Zackai EH, Keena B, Capasso J, Levin AV, Bhoj E, Li D, Hakonarson H, Wentzensen IM, Jackson A, Chandler KE, Coban-Akdemir ZH, Posey JE, Banka S, Lupski JR, Sheppard SE, Tartaglia M, Triggs-Raine B, Crosby AH, Baple EL. Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency. Genet Med. 2021 Nov 30:S1098-3600(21)05366-1. doi: 10.1016/j.gim.2021.10.014. Epub ahead of print. PMID: 34906488.
Sheppard SE, Sanders VR, Srinivasan A, Finn LS, Adams D, Elton A, Amlie-Lefond C, Nelson Z, Dmyterko V, Jensen D, Zenner K, Perkins J, Bennett JT. Cerebrofacial vascular metameric syndrome is caused by somatic pathogenic variants in PIK3CA. Cold Spring Harb Mol Case Stud. 2021 Dec 9;7(6):a006147. doi: 10.1101/mcs.a006147. PMID: 34887309.
2020
Sheppard SE, Smith A, Grand K, Rubin AI, Schindewolf E, Fitzgerald MP, Moldenhauer J, Bhoj E, McMahon P, Castelo-Soccio L. Further delineation of the phenotypic spectrum of nevus comedonicus syndrome to include congenital cystic adenomatoid 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. PMID: 31961058.
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:0.1016/j.ajhg.2020.03.009. Epub 2020 Apr 9. PubMed PMID: 32275884; PubMed Central PMCID: PMC7212259.
Foster J, Li D, March M, Sheppard S, Adams D, Hakonarson H, Dori Y. Kaposiform lymphangiomatosis effectively treated with MEK inhibition. EMBO Molecular Medicine. 2020 Sep 7:e12324. doi: 10.15252/emmm.202012324. Epub ahead of print. PMID: 32894644.
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. Clinical Dysmorphology. 2020 Sep 10. doi: 10.1097/MCD.0000000000000347. Online ahead of print. PMID: 32925199.
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.
2019
Campbell IM*, Sheppard SE*, Crowley TB, McGinn DE, Bailey A, McGinn MJ, Unolt M, Homans JF, Chen EY, Salmons HR, Gaynor JW, Goldmuntz E, Jackson OA, Kallish S, Katz LE, Mascarenhas M, Deeney VF, Castelein RM, Zur KB, Elden L, Kolon T, Hopkins SE, Chadehumbe MA, Lambert MP, Forbes BJ, Moldenhauer JS, Schindewolf EM, Solot CB, Moss EM, Gur R, Sullivan KE, Emanuel BS, Zackai EH, McDonald-McGinn DM. What’s 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. PMID: 30380191.
Sheppard S, Herrick H, Ahrens-Nicklas RC, Cohen JL, Flibbotte J, Pyle L. Severe hyperammonemia in a neonate: an alternate ending. Neoreviews 2019 Feb 20 (2). PMID 31261090. PMCID PMC6645685.
Agawu A, Sheppard S, Lin HC. A novel VPS33B mutation causing a mild phenotype of ARC syndrome. J Pediatr Gastroenterol Nutr. 2019 Feb 5. PMID: 30747815.
Banka S, Sayer R, Breen C, Barton S, Pavaine J, Sheppard SE, Bedoukian E, Skraban C, Cuddapah V, Clayton-Smith J. Genotype-phenotype specificity in Menke-Hennekam syndrome caused by missense variants in exon 30 or 31 of CREBBP. American Journal of Medical Genetics: Part A, 2019 Jun;179(6):1058-1062. PMID: 30892814.
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 May 31. doi: 10.1038/s41436-019-0551-9. PMID: 31147633.
Sheppard SE*, Anderson L*, Sibbald C, Cotton C, Bhoj E, Perman M, Castelo-Soccio L. Generalized, severe epidermolysis bullosa simplex caused by a maternally inherited Keratin 5 p.E477K mutation: Expansion of the phenotype. 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. (2019). Muenke syndrome: Medical and surgical comorbidities and long-term management. American Journal of Medical Genetics. Part A, 36, 9. http://doi.org/10.1002/ajmg.a.61199. PMID: 31111620.
2018
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, Noon SE, Scarano MI, Santani A, Pennington JW, 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. PMID: 29907799.
2017
Sheppard SE, Marecki HL, Psoinos CM, Movahedi B, Furman MJ, Bozorgzadeh A, Martins PN. (2017) Acute Appendicitis after Liver Transplantation: A Case Report and Review of the Literature. International Journal of Organ Transplantation Medicine Vol 8, No 4. PMID 29321837.
2015
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. (2015) Reverse genetic screening reveals poor correlation between morpholino-induced and mutant phenotypes in zebrafish. Dev Cell 32(1), 97-108. PMID 25533206.
2013
Moore JC, Sheppard-Tindell S, Shestopalov IA, Yamazoe S, Chen JK, Lawson ND. (2013) Post-transcriptional mechanisms contribute to Etv2 repression during vascular development. Dev Biol 384(1), 128-40. PMID: 24036310.
Sheppard S, Lawson ND, Zhu LJ. (2013) Accurate identification of polyadenylation sites from 3' end deep sequencing using a naïve Bayes classifier. Bioinformatics 29(20), 2564-71. PMID: 23962617.
2007
Kumar N, Afeyan R, Sheppard S, Harms B, Lauffenburger DA. (2007) Quantitative analysis of Akt phosphorylation and activity in response to EGF and insulin treatment. Biochem Biophys Res Commun 354(1), 14-20. PMID: 17214972.
Abstracts (includes Posters and Scientific Presentations)
2023
Sheppard SE et al. Mosaic activating variants in KRAS cause central conducting lymphatic anomaly which respond to MEK inhibition. VAC 2023, Brussels, Belgium. Jan/Feb 2023.
2022
Sheppard SE, Dayneka J, Smith CL, Srinivasan A, Surrey LF, Dori Y, Belasco JB, Hakonarson H, Adams D, Snyder K. MEK inhibition for treatment of vascular malformations in patients with RAS-MAPK pathway upregulation. David W. Smith Workshop. Hybrid. Sept 2022.
Sheppard SE et al. A zebrafish model for lymphatic anomalies associated epidermal nevus syndromes caused by mosaic pathogenic variants in KRAS. Pediatric Dermatology Research Alliance Conference, Bethesda, MD. Nov 2022.
2021
Sheppard SE, March ME, Seiler C, Li D, Matsuoka LS, Kim SE, Battig MR, Castelo-Soccio L, Frieden I, Huynh T, Kao C, Krantz I, Khalek K, Pinto E, Rubin A, Schindewolf E, Shieh JT, Dori Y, Snyder K, Hakonarson H. Molecularly targeted therapy for lymphatic anomalies in patients with mosaic KRAS-opathies. 42nd Annual David W. Smith Workshop on Malformations and Morphogenesis, Skamania, WA. Sept 2021.
Lectures by Invitation
2023
Sheppard S. “A Precision Medicine Approach to Complex Lymphatic Anomalies”, Complex Lymphatic Anomaly Seminar Series sponsored by Lymphangiomatosis Gorham’s Disease Alliance (Virtual). Feb 2023.
Sheppard S. “Central Conducting Lymphatic Anomaly and Treatment in RASopathies”, with Dr. Scott Whitecar, NIAMS Dermatology Grand Rounds (Virtual). Jan 2023.
Sheppard S. “Bedside to bench in central conducting lymphatic anomaly”, Zoom Lymphatic Seminar (Virtual). Jan 2023.
2022
Sheppard S. “A bedside to bench precision medicine program for complex lymphatic anomalies”, University of Southern California. Oct 2022.
Sheppard S. “Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome”, First International WSS Clinicians Meeting (Virtual). Sept 2022.
Sheppard S. “Precision medicine approaches for lymphatic anomalies”, NIH Distinguished Scholar Symposium (Hybrid). Sept 2022.
Sheppard S. “Precision medicine approaches for RAS-pathway related lymphatic anomalies”, NICHD Annual Retreat (Virtual). Sept 2022.
Sheppard S. “Mosaic activating variants in KRAS cause central conducting lymphatic anomaly”, UC Davis Genomic Grand Rounds (Virtual). May 2022.
Sheppard S. “Genetics of vascular malformations”- International Society for the Study of Vascular Anomalies World Congress 2022, Vancouver, Canada. May 2022.
Sheppard S. “Update on the Genetic Basis of Vascular Anomalies”, Atlantic Dermatology Conference 2022 (Virtual). Apr 2022.
Sheppard S. “It’s not a hemangioma”, UC Davis Genomic Grand Rounds (Virtual). Apr 2022.
Sheppard S. “Bedside to bench: Treatment of central lymphatic disorders in neonates”, with Dr. Dalal Taha, Department of Child Health Grand Rounds, University of Missouri, Columbia (Virtual). Mar 2022.
Sheppard S. "A precision medicine approach to complex lymphatic anomalies", Pediatric Grand Rounds, UMass Memorial Children’s Medical Center (Virtual). Feb 2022.
2021
Sheppard S. Challenges and Opportunities in Research: A Panel Discussion Moderators: Dr. Miikka Vikkula MD, PhD and Dr. Jean Zhao PhD with Dr. Sarah Sheppard MD, PhD, Dr. Ralitsa Madsen, PhD, Dr. Friedrich Kapp and Dr. Timothy Le Cras, PhD, International Scientific Meeting for PIK3CA Related Conditions (Virtual). Oct 2021.
Sheppard S. "A precision medicine approach to complex lymphatic anomalies", Pediatric Grand Rounds, Rush University System for Health (Virtual). Oct 2021.
Sheppard S. “Zebrafish Model of CCLA”, Annual LGDA/LMI International Research Symposium. Oct 2021.
Sheppard S. "A precision medicine approach to complex lymphatic anomalies"- Lucille Packard Children’s Hospital at Stanford University (Virutal). July 2021.
Sheppard S. "A precision medicine approach to complex lymphatic anomalies" - Second Annual CHOP Lymphatic Disorders Virtual Conference. June 2021.
Sheppard S. “Future developments in genetic testing of vascular malformations” - International Society for the Study of Vascular Anomalies Virtual Meeting. May 2021.
Sheppard S. “Precision therapies for Rasopathies” with Dr. Carol Wittlieb-Weber and Dr. Kristen Snyder – Children’s Hospital of Philadelphia Cardiac Intensive Care Unit Research Conference. May 2021.
Sheppard S. "A precision medicine approach to complex lymphatic anomalies" – Children’s Hospital of Philadelphia Special Delivery Unit Education and Practice Improvement Series. May 2021.
Sheppard S. “A precision medicine approach to complex lymphatic anomalies” – National Institute of Child Health and Development. Apr 2021.
Sheppard S. “Neonatal Lymphatic Disorders” – Columbia University Division of Neonatal-Perinatal Medicine Research Conference. Apr 2021.
Editorials, Reviews, Chapters
2023
Szigety K and Sheppard SE. (2023). Syndromic Intellectual Disability. In R. Tenney-Soeiro and E. Pete Devon (Eds.) Netter Pediatrics (2nd ed, pp399-406). Philadelphia, PA: Elselvier, Inc.
2022
Sheppard SE, Quintero-Rivera F. Wiedemann-Steiner Syndrome. 2022 May 26. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews®[Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. PMID: 35617449.