Dr. Sheppard is on Doximity
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Office
10 Center Drive
Bethesda, MD 20892
Summary
- Dr. Sarah Sheppard is a tenure-track investigator at NICHD.
Education & Training
- University of Massachusetts Medical SchoolClass of 2015
- Children's Hospital of PhiladelphiaResidency, Pediatrics/Medical Genetics and Genomics
Certifications & Licensure
- PA State Medical License 2015 - 2026
- American Board of Pediatrics Pediatrics
- American Board of Medical Genetics and Genomics Clinical Genetics and Genomics
Publications & Presentations
PubMed
- 6 citationsGain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders.Carolina Gracia-Diaz, Yijing Zhou, Qian Yang, Reza Maroofian, Paula Espana-Bonilla
Nature Communications. 2023-07-11 - 19 citationsGenomic profiling informs diagnoses and treatment in vascular anomalies.Dong Li, Sarah E Sheppard, Michael E March, Mark R Battig, Lea F Surrey
Nature Medicine. 2023-06-01 - 5 citationsMosaic 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
Press Mentions
- 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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