Hana Snow

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

Life Sciences, Genetics, Molecular Genetics +17

<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

Life Sciences, Bioinformatics, Genetics +17

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

Medicine, Genetics, Molecular Genetics +17

Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease

Gabrielle Lemire, Alba Sanchis‐Juan, Kathryn Russell et al. · The American Journal of Human Genetics · 2024 · 21 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

GREGoR: accelerating genomics for rare diseases

Moez Dawood, Ben Heavner, Marsha M. Wheeler et al. · Nature · 2025 · 14 citations · Full text

Life Sciences, Bioinformatics, Genetics +11