Sarah E. Sheppard, MD, PhD, MSTR, FAAP, FACMG

Papers

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

2022

Nakano TA, Sheppard SE, Hill LRS, Chatfield K, Annam A and Kulungowski AM. Trametinib associated rhabdomyolysis during treatment of a KRAS variant lymphatic anomaly. International Society for the Study of Vascular Anomalies World Congress 2022, Vancouver, Canada. May 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. International Society for the Study of Vascular Anomalies World Congress 2022, Vancouver, Canada. May 2022.

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. International Society for the Study of Vascular Anomalies World Congress 2022, Vancouver, Canada. May 2022.

Acord M, Escobar F, Adams D, Bhatti T, Cahill AM, Pogoriler J, Sheppard S, Snyder K, Witmer C, Srinivasan A. Portal vein thrombosis associated with kaposiform lymphangiomatosis-like phenotype in two patients. International Society for the Study of Vascular Anomalies World Congress 2022, Vancouver, Canada. May 2022.

Nriagu BN, Williams LS, Britt A, Low D, Srinivasan A, Drivas TG, Zackai EH, Snyder K, Treat JR, Sheppard S. Vascular Malformations Are Not Part of the Clinical Spectrum of Turner Syndrome. International Society for the Study of Vascular Anomalies World Congress 2022, Vancouver, Canada. May 2022.

Britt A, Treat J, Low D, Cahill AM, Queenan M, Bolli A, Sheppard S. Somatic Genetic Testing Provides Diagnosis of Verrucous Venous Malformation in a Patient with Discrepant Radiology, Pathology, and Clinical Findings. International Society for the Study of Vascular Anomalies World Congress 2022, Vancouver, Canada. May 2022.

Li D, Sheppard S, March ME, Seiler C, Tian L, Battig MR, Matsuoka LS, Nriagu BN, Robinson N, Thomas A, Pinto E, Wang F, Hou C, Pellegrino R, Thompson F, Kao C, Srinivasan A, Smith CL, Snyder K, Dori Y, Adams D, Hakonarson H. Expanded Genetic Landscape in Complex Vascular Anomalies. International Society for the Study of Vascular Anomalies World Congress 2022, Vancouver, Canada. May 2022. 

Snyder K, Dayneka J, Smith CL, Srinivasan A, Surrey LF, Dori Y, Belasco JB, Hakonarson H, Adams D, Sheppard S. MEK inhibition for treatment of vascular malformations in patients with RAS-MAPK pathway upregulation. International Society for the Study of Vascular Anomalies World Congress 2022, Vancouver, Canada. May 2022.

Li D, Sheppard S, March ME, Seiler C, Tian L, Battig MR, Matsuoka LS, Nriagu BN, Robinson N, Thomas A, Pinto E, Wang F, Hou C, Pellegrino R, Thompson F, Kao C, Srinivasan A, Smith CL, Snyder K, Dori Y, Adams D, Hakonarson H. Expanded Genetic Landscape in Complex Vascular Anomalies. David W. Smith Workshop 2022, Hybrid. August 2022. 

2021

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. ACMG Annual Clinical Genetics Meeting, Virtual. April 2021.

Rangu S, Parker JC, Grand K, Bhoj E, Castelo-Soccio L, Sheppard S. Genetic Skin Disorders: The Value of a Multidisciplinary Clinic. ACMG Annual Clinical Genetics Meeting, Virtual. April 2021.

Szigety KM, Crowley TB, Campbell IM, Adusumalli P, Ahrens-Nicklas RC, Calderon B, Cuddapah S, Edmondson A, Ficicioglu F, Ganetzky R, Kalish JM, Krantz ID, McDonald-McGinn DM, Medne L, Muraresku C, Pyle LC, Zackai EH and Sheppard SE. Implementation of Telemedicine-Based Pediatric Genetics Care at the Children's Hospital of Philadelphia. ACMG Annual Clinical Genetics Meeting, Virtual. April 2021.

Srinivasan A, Dori Y, Laje P, Sheppard S, Li D, Krishnamurthy G, Escobar F, Hakonarson H, Adams D. Central Conducting Channel Anomaly Presenting with Rectovaginal Leak and Abdominal Pain. ISSVA Debates and Updates Virtual Meeting, Virtual. May 2021.

Li D*, Sheppard S*, March ME*, Seiler C, Battig MR, Matsuoka LS, Ngriau B, Kim S, Robinson N, Thomas A, Pinto E, Kao C, Wang F, Srinivasan A, Smith CL, Exome sequencing in complex lymphatic anomaly and lymphedema patients supports clinical development for RASopathies. Lymphatic Forum, Virtual. June 2021.

Sheppard SE, March ME, Seiler C, Li D, Battig M, Kim SE, Matsuoka LS, Kao C, Pinto E, Snyder K, Dori Y, Hakonarson H. Pre-clinical studies in cell and zebrafish models of a complex lymphatic anomaly due to KRAS p.G12D. Lymphatic Forum, Virtual. June 2021.

Rangu S, Castelo-Soccio L, Sheppard SE. Neurodevelopmental outcomes in patients with genodermatoses. Society for Pediatric Dermatology Meeting, Virtual. July 2021.

Keefe AC, Sheppard S, Hicks PJ, Geddis A, Rakes L, Toprak D, Li D, March ME, Battig MR, Hakonarson H, Nelson Z, Bennett J, Perkins J, Wenger TL. Pharmacologic treatment experience of six patients with ephb4-associated central conducting lymphatic anomaly. 42nd Annual David W. Smith Workshop on Malformations and Morphogenesis, Skamania, WA. Sept 2021. 

Campbell IM, Szigety KM, Crowley TB, Adusumalli P, Krantz ID, McDonald-McGinn DM, Zackai EH, Sheppard SE. Outcomes following telemedicine versus in-person clinical genetics evaluation at a tertiary referral center. 42nd Annual David W. Smith Workshop on Malformations and Morphogenesis, Skamania, WA. Sept 2021.

Srinivasan A, Sheppard S, Li D, Hakonarson H, Dori Y, Laje P, Smith CL, Krishnamurthy G, Escobar F, Pinto EM, Snyder K, Adams D. Central conducting channel anomaly with associated PI3KCA variant presenting with rectovaginal leak. International Scientific Meeting for PIK3CA Related Conditions, Virtual. October 2021.

Sanders VR, Adams DM, Srinivasan A, Nelson Z, Bennett JT, Sheppard SE. Developmental venous anomaly in PIK3CA¬related overgrowth spectrum disorder. International Scientific Meeting for PIK3CA Related Conditions, Virtual. October 2021.

Battig M, Sheppard SE, Seiler C, Belasco JB, Ganguly A, Kao C, Kim SE, Li D, Low DW, March ME, Matsuoka LS, Niazi R, Sanders VR, Srinivasan AS, Surrey LF, Adams D, Hakonarson H. PIK3CA p.H1047L causes lymphatic dysplasia that can be improved with mTOR inhibition. International Scientific Meeting for PIK3CA Related Conditions, Virtual. October 2021.

Sheppard SE, Battig M, Belasco J, Brownell J, Ganguly A, Li D, Kao C, Kim S, March M, Matsuoka L, Niazi R, Nomakuchi T, Pinto E, Sanders V, Seiler C, Smith C, White A, Hakonarson H, Adams D. Is this the answer? A variant of uncertain significance in PIK3CA in a patient with generalized lymphatic anomaly. International Scientific Meeting for PIK3CA Related Conditions, Virtual. Oct 2021.

Akizu N, Gracia-Diaz C., Zhou Y, Otrimski G, Lee C-H, Espana-Bonilla P, Padilla N, Lee D, Sheppard S, Mark P, Harr MH, Hakonarson H, Rodan L, Jackson A, Mohammed S, Concepcion E, Hurst A, Thompson ML, Chassevent A, Smith-Hicks CL, Saade M, De la Cruz X, Reinberg D., Holtz A, Banka S, Alkuraya FS, Agrawal PB, Martinez-Balbas M, Bhoj EJ. Gain and loss of function variants in EZH1 disrupt neuronal differentiation and lead to overlapping neurodevelopmental disorders. American Society of Human Genetics Meeting, Virtual. October 2021.

Sheppard SE, Battig M, Seiler C, Belasco JB, Ganguly A, Kao C, Kim SE, Li D, Low DW, March ME, Matsuoka LS, Niazi R, Sanders VR, Srinivasan AS, Surrey LF, Adams D, Hakonarson H. mTOR inhibition improves lymphatic dysplasia caused by PIK3CA p.H1047L American Society of Human Genetics Meeting, Virtual. October 2021.

Kayumi S, Pérez-Jurado LA, Palomares M, Sheppard SE, Chung WK, Kruer MC, Amor D, McGillivray G, García-Miñaúr S, van Eyk C, Harper K, Webber D, Berry J, Jolly L, Santos-Simarro F, Pacio-Míguez M, Bakhtiari S, Deardorff M, Dubbs HA, Izumi K, Grand K, Gray C, Ortiz-Gonalez XR, Rnagu S, Keena B, Zackai E, Perez de Nanclares G, Llano-Rivas I, Arroyo I, Ángeles Fernández-Cuesta M, Thauvin C, Faivre L, Brilstra E, Lesca G, Lion-François L, Piton A, Nizon M, Cogne B, Srivastava S, Bassetti J, Muss C, Gripp KW, Procopio RA, Zamora FM, Morrow M, Assaf M, MacLennan A, Gecz J and Corbett M. Clinical and genetic review of 265 CTNNB1 germline variants in neurodevelopmental disorders. International Cerebral Palsy Genomics Consortium Annual Meeting, Virtual. October 2021.

Campbell IM, Szigety KM, Crowley TB, Gaiser KB, Chen EY, Priestly JRC, Williams LS, Rangu SA, Wright CM, Adusumalli P, Ahrens-Nicklas R, Calderon B, Cuddapa SR, Edmondson A, Ficicioglu F, Ganetzy R, Kalish JM, Krantz ID, McDonald-McGinn DM, Medne L, Muraresku C, Pyle LC, Zackai EH, Sheppard SE. Diagnostic timeline and clinical efficacy of telemedicine-based pediatrics genetics care. MidAtlantic Bioinformatics Conference, Virtual, October 2021.

Campbell IM, McManus ML, Junod DC, Cusick FC, Sheppard SE, Lourie EM, Shelov ED, Luberti A. Clinical Decision Support with a Comprehensive in-EHR Patient Tracking System to Improve Inpatient Genetic Testing Follow Up. American Medical Informatics Association Symposium, San Diego, CA. November 2021.

Books

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.

Posters and 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.

Invited Lectures

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.