Vascular Malformations

• Li D*, Sheppard SE*, March ME, Battig MR, Surrey LF, Srinivasan AS, Matsuoka LS, Tian L, Wang F, Seiler C, Dayneka J, Borst AJ, Matos MC, Paulissen SM, Krishnamurthy G, Nriagu B, Sikder T, Casey M, Williams L, Rangu S, O'Connor N, Thomas A, Pinto E, Hou C, Nguyen K, Pellegrino da Silva R, Chehimi SN, Kao C, Biroc L, Britt AD, Queenan M, Reid JR, Napoli JA, Low DM, Vatsky S, Treat J, Smith CL, Cahill AM, Snyder KM, Adams DM, Dori Y, Hakonarson H. Genomic profiling informs diagnoses and treatment in vascular anomalies. Nat Med. 2023 Jun 1. doi: 10.1038/s41591-023-02364-x. Epub ahead of print. PMID: 37264205.
• Sheppard SE, March ME, Seiler C, Matsuoka LS, Kim SE, Kao C, Rubin AI, Battig MR, Khalek N, Schindewolf E, O'Connor N, Pinto E, Priestley JR, Sanders VR, Niazi R, Ganguly A, Hou C, Slater D, Frieden IJ, Huynh T, Shieh JT, Krantz ID, Guerrero JC, Surrey LF, Biko DM, Laje P, Castelo-Soccio L, Nakano TA, Snyder K, Smith CL, Li D, Dori Y, Hakonarson H. Lymphatic disorders caused by mosaic, activating KRAS variants respond to MEK inhibition. JCI Insight. 2023 May 8;8(9):e155888. doi: 10.1172/jci.insight.155888. PMID: 37154160.
• 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] PubMed PMID: 35606495.
• 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. PubMed PMID: 35235341.
• 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. 2021 Apr 1;30(2):89-92. doi: 10.1097/MCD.0000000000000347. PubMed PMID: 32925199; PubMed Central PMCID: PMC7933106.
• 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 May;99(5):742-743. doi: 10.1111/cge.13915. Epub 2021 Jan 12. PubMed PMID: 33433009; PubMed Central PMCID: PMC8666150.
• 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 Nov;38 Suppl 2:137-139. doi: 10.1111/pde.14787. Epub 2021 Sep 28. PubMed PMID: 34585435; PubMed Central PMCID: PMC9043531.
• 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;7(6). doi: 10.1101/mcs.a006147. Print 2021 Dec. PubMed PMID: 34887309; PubMed Central PMCID: PMC8751408.
• Sheppard SE, Krantz ID. 50 Years Ago in TheJournalofPediatrics: Advances in the Recognition and Management of Lymphatic Complications of Noonan Syndrome. J Pediatr. 2022 Feb;241:195. doi: 10.1016/j.jpeds.2021.11.044. PubMed PMID: 35067283.

Genetic Skin Disorders

• 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 Apr;185(4):1159-1167. doi: 10.1002/ajmg.a.62095. Epub 2021 Jan 27. PubMed PMID: 33502802; PubMed Central PMCID: PMC8683660.
• 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; PubMed Central PMCID: PMC8630880.
• 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. PubMed PMID: 34611197; PubMed Central PMCID: PMC8492651.

Wiedemann Steiner Syndrome

• 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; PubMed Central PMCID: PMC8631250.
• 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.

A full list of Sarah Sheppard’s publications here.