SarahElizabethSheppardMD(She/Her)

PubMed

• 3 citations
  Mosaic pathogenic variants in AKT3 cause capillary malformation and undergrowth.
  Bede Nriagu, Allison D Britt, Anjali D Toole, James Treat, Abhay Srinivasan, Sarah E Sheppard, Bolli, A.> ;American Journal of Medical Genetics. Part A. 2023 May 1
• 11 citations
  Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants.
  Sayaka Kayumi, Luis A Pérez-Jurado, María Palomares, Sneha Rangu, Sarah E Sheppard, Wendy K Chung, Michael C Kruer, Mira Kharbanda, David J Amor, George McGillivray, J...> ;Genetics in Medicine. 2022 Nov 1
• 50 Years Ago in TheJournalofPediatrics: Advances in the Recognition and Management of Lymphatic Complications of Noonan Syndrome.
  Sarah E Sheppard, Ian D Krantz> ;The Journal of Pediatrics. 2022 Feb 1
• Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency
  James Fasham, Siying Lin, Promita Ghosh, Francesca Clementina Radio, Emily G. Farrow, Isabelle Thiffault, Jennifer Kussman, Dihong Zhou, Rick Hemming, Kenneth G. Zahka...> ;Genetics in Medicine. 2021 Nov 1
• 6 citations
  Proposed criteria for nevoid basal cell carcinoma syndrome in children assessed using statistical optimization
  Nina B. Gold, Ian M. Campbell, Sarah E Sheppard, Wen-Hann Tan> ;Scientific Reports. 2021 Oct 5
• 1 citations
  Misdiagnosis of capillary malformations in darker skin phototypes.
  Bede N Nriagu, Victoria R Sanders, Lionel Bercovitch, Kristen Snyder, Elizabeth A Cross, James R. Treat, Sarah E Sheppard> ;Pediatric Dermatology. 2021 Sep 28
• Correction to: Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot.
  Doris Škorić-Milosavljević, Najim Lahrouchi, Fernanda M Bosada, Gregor Dombrowsky, Simon G. Williams, Robert Lesurf, Fleur V.Y. Tjong, Roddy Walsh, Ihssane El Bouchikh...> ;Genetics in Medicine. 2021 Oct 1
• 6 citations
  Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot.
  Doris Škorić-Milosavljević, Najim Lahrouchi, Fernanda M Bosada, Gregor Dombrowsky, Simon G. Williams, Robert Lesurf, Fleur V.Y. Tjong, Roddy Walsh, Ihssane El Bouchikh...> ;Genetics in Medicine. 2021 Jun 10
• 50 Years Ago in TheJournalofPediatrics: Multiple Lentigines Syndrome: Historical Perspective and Contributions of Dr David W. Smith.
  Sarah E Sheppard, Ian D. Krantz> ;The Journal of Pediatrics. 2021 Jun 1
• 11 citations
  Trisomy 9 mosaic syndrome: Sixteen additional patients with new and/or less commonly reported features, literature review, and suggested clinical guidelines.
  Mindy H. Li, Jennifer Glass, Xiaoli Du, Holly Dubbs, Margaret Harr, Marni J. Falk, Teresa A. Smolarek, Robert J. Hopkin, Elaine H. Zackai, Sarah E Sheppard> ;American Journal of Medical Genetics. Part A. 2021 Aug 1
• 34 citations
  Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome
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• 3 citations
  Congenital polyvalvular disease expands the cardiac phenotype of the RASopathies.
  Dena R. Matalon, David A. Stevenson, Elizabeth J. Bhoj, Avni Santani, Beth Keena, Meryl S. Cohen, Angela E. Lin, Sarah E Sheppard, Elaine H. Zackai> ;American Journal of Medical Genetics. Part A. 2021 Mar 8
• 7 citations
  Heterozygous recurrent HNF4A variant p.Arg85Trp causes Fanconi renotubular syndrome 4 with maturity onset diabetes of the young, an autosomal dominant phenocopy of Fan...
  Sarah E Sheppard, Brett Barrett, Colleen Muraresku, Heather McKnight, Diva D. De León, Katherine Lord, Rebecca D. Ganetzky> ;American Journal of Medical Genetics. Part A. 2021 Feb 1
• 4 citations
  Genetic skin disorders: The value of a multidisciplinary clinic.
  James Clayton Parker, Sneha Rangu, Katheryn Grand, Elizabeth J. Bhoj, Leslie Castelo-Soccio, Sarah E Sheppard> ;American Journal of Medical Genetics. Part A. 2021 Jan 27
• 2 citations
  Hyperinsulinism in an individual with an EP300 variant of Rubinstein-Taybi syndrome.
  K. Taylor Wild, Tomoki T Nomakuchi, Sarah E Sheppard, Karla F. Leavens, Diva D. De León, Elaine H. Zackai> ;American Journal of Medical Genetics. Part A. 2021 Jan 14
• 6 citations
  Expanded phenotypic spectrum of JAG1-associated diseases: Central conducting lymphatic anomaly with a pathogenic variant in JAG1
  Dong Li, Sarah E Sheppard, Christina Peroutka, Caitlin Barnes, Janet R. Reid, Christopher L. Smith, Yoav Dori, Hakon Hakonarson> ;Clinical Genetics. 2021 Jan 12
• 41 citations
  Kaposiform lymphangiomatosis effectively treated with MEK inhibition.
  Jessica B. Foster, Dong Li, Michael E. March, Sarah E Sheppard, Denise M. Adams, Hakon Hakonarson, Yoav Dori> ;EMBO Molecular Medicine. 2020 Oct 7
• 1 citations
  Chromosome 4q28.3q32.3 duplication in a patient with lymphatic malformations, craniosynostosis, and dysmorphic features.
  Eric S Traub, Sarah E Sheppard, Yoav Dori, Katelyn D Burns, Elaine H. Zackai, Stephanie M. Ware, Benjamin J. Landis, Dong Li, David D. Weaver> ;Clinical Dysmorphology. 2021 Apr 1
• 15 citations
  Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities.
  Alison M. Muir, Jennifer L. Cohen, Sarah E Sheppard, Pavithran Guttipatti, Tsz Y. Lo, Natalie Weed, Dan Doherty, Danielle DeMarzo, Christina Fagerberg, Lars Kjærsgaard...> ;American Journal of Human Genetics. 2020 May 7
• 9 citations
  Further delineation of the phenotypic spectrum of nevus comedonicus syndrome to include congenital pulmonary airway malformation of the lung and aneurysm
  Sarah E Sheppard, Anna Smith, Katheryn Grand, Jennifer Pogoriler, Adam I. Rubin, Erica Schindewolf, Mark Fitzgerald, Julie S. Moldenhauer, Pablo Laje, William H. Peran...> ;American Journal of Medical Genetics. Part A. 2020 Jan 21
• 1 citations
  Generalized, severe epidermolysis bullosa simplex caused by a Keratin 5 p.E477K mutation.
  Sarah E Sheppard, Laura Elizabeth Anderson, Cathryn Sibbald, Colleen H. Cotton, Elizabeth J. Bhoj, Marissa J. Perman, Leslie Castelo-Soccio> ;Pediatric Dermatology. 2019 Oct 3
• 4 citations
  A Novel VPS33B Mutation Causing a Mild Phenotype of Arthrogryposis, Renal dysfunction, and Cholestasis Syndrome.
  Atu Agawu, Sarah E Sheppard> ;Journal of Pediatric Gastroenterology and Nutrition. 2019 Aug 1
• 20 citations
  Genotype-phenotype specificity in Menke-Hennekam syndrome caused by missense variants in exon 30 or 31 of CREBBP.
  Siddharth Banka, Rebecca Sayer, Catherine Breen, Stephanie Barton, Julija Pavaine, Sarah E Sheppard, Emma Bedoukian, Cara M. Skraban, Vishnu Anand Cuddapah, Jill Clayt...> ;American Journal of Medical Genetics. Part A. 2019 Jun 1
• 14 citations
  Androgenetic chimerism as an etiology for Beckwith-Wiedemann syndrome: diagnosis and management.
  Sarah E Sheppard, Emilie Lalonde, N. Scott Adzick, Anita E. Beck, Tricia R. Bhatti, Diva D. De León, Kelly A. Duffy, Arupa Ganguly, Evan R Hathaway, Jianling Ji, Rebec...> ;Genetics in Medicine. 2019 May 31
• 1 citations
  Muenke syndrome: Medical and surgical comorbidities and long-term management.
  Chaya N. Murali, Donna M. McDonald-McGinn, Tara L. Wenger, Carey McDougall, Bridget M. Stroup, Sarah E Sheppard, Jesse A. Taylor, Scott P. Bartlett, Elizabeth J. Bhoj,...> ;American Journal of Medical Genetics. Part A. 2019 Aug 1
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