Selected Publications

  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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. PMID: 35067283.

A full list of Sarah Sheppard’s publications here.

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