SarahElizabethSheppardMD(She/Her)

Clinical Genetics, Pediatric Medical Genetics

Physician

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University of Massachusetts Medical SchoolClass of 2015
Children's Hospital of PhiladelphiaResidency, Pediatrics/Medical Genetics and Genomics

PubMed

52 citations
Kaposiform lymphangiomatosis effectively treated with MEK inhibition.
Jessica B. Foster, Dong Li, Michael E. March, Sarah E Sheppard, Denise M. Adams
EMBO Molecular Medicine. 2020-10-07
17 citations
Accurate identification of polyadenylation sites from 3' end deep sequencing using a naive Bayes classifier.
Sarah E Sheppard, Nathan D. Lawson, Lihua Julie Zhu
Bioinformatics. 2013-10-15
19 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
Genetics in Medicine. 2022-11-01

Study Assesses the Effectiveness of Telemedicine-Based Pediatric Genetics CareJune 1st, 2022
Telemedicine Could Help Diagnose Pediatric Genetic DisordersJune 1st, 2022
Clinical Geneticist and Pediatrician Elaine Zackai, MD, FACMG Receives David L. Rimoin Lifetime Achievement Award in Medical Genetics from the ACMG Foundation for Genetic and Genomic MedicineMarch 23rd, 2022
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