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Sara Reichert

Co-Director, Foundations in Clinical Genetics and Genomic Technologies Course · University of Pennsylvania Health System

Credentials: · ·

History

Foundations in Clinical Genetics and Genomic Technologies course · University of Pennsylvania Health System
Present

Research

Defining the phenotypic spectrum of SLC6A1 mutations
Epilepsia · 2018 · 121 citations
Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa
Case report · The American Journal of Human Genetics · 2015 · 61 citations
Identification of a novel nonsense mutation in the FOXP3 gene in a fetus with hydrops--Expanding the phenotype of IPEX syndrome
Case report · American Journal of Medical Genetics Part A · 2016 · First of 3 authors · 24 citations

Ian Krantz
3 papers
Cara Skraban
2 papers
David Munson
2 papers
Elaine Zackai
2 papers
Katharine Callahan
2 papers · 2 as a fellow
Kelly Regan-Fendt
2 papers · 1 as a resident
Rebecca Ahrens-Nicklas
2 papers · 1 as a resident
Taylor Wild
2 papers
Adeline Vanderver
1 paper
Amy Waldman
1 paper
Angela Lin
1 paper
AG
Anthony Gacita
1 paper · 1 as a resident