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Sara L. Reichert | Researchclopedia

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Sara L. Reichert

Children's Hospital of Philadelphia

11

Works

169

Citations

4

h-index

3

i10-index

Research Topics

Genomics and Rare Diseases Genetics and Neurodevelopmental Disorders BRCA gene mutations in cancer

Affiliations

Children's Hospital of Philadelphia2015–2025

Hospitais da Universidade de Coimbra2025–2025

Institute of Molecular Genetics2020–2020

Top Works

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,et al.

201586 citations

Genomic variations and chromosomal abnormalities

RNA regulation and disease

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

Sara L. Reichert,Rachel Li,et al.

202045 citations

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,et al.

201526 citations

Retrospective identification of patients with <i>SRRM2</i>‐related neurodevelopmental disorder in a single tertiary children's hospital

Kelly E. Regan‐Fendt,Alyssa L. Rippert,et al.

20238 citations

Atypical Williams syndrome in an infant with complete atrioventricular canal defect

Rebecca C. Ahrens‐Nicklas,Sara L. Reichert,et al.

20152 citations

Continuing education and professional development: Unifying opportunities for genetic counselors globally

Kathleen Valverde,Tiffiney R. Hartman,et al.

20241 citations

A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3B

Esra Erkut,Cherith Somerville,et al.

20251 citations

Rapid targeted analysis of the genome: Rapid genomic sequencing in critically ill infants

K. Taylor Wild,Sara L. Reichert,et al.

20250 citations

Leveling the field: Development of an asynchronous interactive module series for genetic counseling trainees on molecular testing and variant interpretation

Sara L. Reichert,Elizabeth T. DeChene,et al.

20240 citations