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

5 citations
Mosaic pathogenic variants in AKT3 cause capillary malformation and undergrowth.
Amber Bolli, Bede Nriagu, Allison D Britt, Anjali D Toole, James Treat
American Journal of Medical Genetics. Part A. 2023-05-01
22 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
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. 2022-02-01

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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