Concepedia

Sara L. Reichert

SL

Statistics

Publications

3

Citations

155

H-Index

3

Active since

2015

Affiliations

Children's Hospital of Philadelphia(Current)

Sara L. Reichert is an author at Children's Hospital of Philadelphia specializing in molecular genetics, medicine, and genomics.

ORCID

Top concepts

Publications per year

2015–2020

3

Publications

3

Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa

Björn Fischer‐Zirnsak, Nathalie Escande‐Beillard, Jaya Ganesh et al. · The American Journal of Human Genetics · 2015 · 86 citations · Full text

, , +6

<scp> <i>HNRNPH1</i> </scp> ‐related syndromic intellectual disability: Seven additional cases suggestive of a distinct syndromic neurodevelopmental syndrome

Sara L. Reichert, Rachel Li, Scott A. Turner et al. · Clinical Genetics · 2020 · 43 citations · Full text

Identification of a novel nonsense mutation in the <i>FOXP3</i> gene in a fetus with hydrops—Expanding the phenotype of IPEX syndrome

Sara L. Reichert, Eileen McKay, Julie S. Moldenhauer · American Journal of Medical Genetics Part A · 2015 · 26 citations

1–3 of 3