Statistics
Publications
29
Citations
1.3K
H-Index
19
Active since
2017
Gabrielle Lemire is an author at Boston Children's Hospital specializing in genetics, life sciences, and molecular genetics.
Publications per year
2017–2025
29
29
Genome Sequencing for Diagnosing Rare Diseases
Monica H. Wojcik, Gabrielle Lemire, Eva Berger et al. · New England Journal of Medicine · 2024 · 184 citations · Full text
The landscape of tolerated genetic variation in humans and primates
Hong Gao, Tobias Hamp, Jeffrey M. Ede et al. · Science · 2023 · 177 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 · 118 citations · Full text
<i>seqr</i> : A web‐based analysis and collaboration tool for rare disease genomics
Lynn Pais, Hana Snow, Ben Weisburd et al. · Human Mutation · 2022 · 109 citations · Full text
Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death
Alicia B. Byrne, Peer Arts, Thuong Ha et al. · Nature Medicine · 2023 · 63 citations · Full text
1–5 of 29