Concepedia

Sarah L. Stenton

SL

24

Publications

1.1K

Citations

17

H-Index

2019

Active since

Affiliations

Technical University of Munich(Current)

Helmholtz Zentrum München

Harvard University

Broad Institute

Boston Children's Hospital

Sarah L. Stenton is an author at Technical University of Munich specializing in medicine, genetics, and neuropathology.

ORCID

Top concepts

Publications per year

2019–2025

24

Publications

24

Clinical implementation of RNA sequencing for Mendelian disease diagnostics

Vicente A. Yépez, Mirjana Gušić, Robert Kopajtich et al. · Genome Medicine · 2022 · 184 citations · Full text

Impaired complex I repair causes recessive Leber’s hereditary optic neuropathy

Sarah L. Stenton, Claudia B. Catarino, N.A. Andreeva et al. · Journal of Clinical Investigation · 2021 · 144 citations · Full text

Genome Sequencing for Diagnosing Rare Diseases

Monica H. Wojcik, Gabrielle Lemire, Eva Berger et al. · New England Journal of Medicine · 2024 · 144 citations · Full text

De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome

Yuyang Chen, Ruebena Dawes, Hyung Chul Kim et al. · Nature · 2024 · 93 citations · Full text

Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases

Jing Tan, Matias Wagner, Sarah L. Stenton et al. · EBioMedicine · 2020 · 65 citations · Full text

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