Sara Boyce

Whole-genome sequencing of patients with rare diseases in a national health system

Ernest Turro, Karyn Mégy, Olga Shamardina et al. · Nature · 2020 · 582 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Germline selection shapes human mitochondrial DNA diversity

Wei Wei, Salih Tuna, Michael J. Keogh et al. · Science · 2019 · 251 citations · Full text

Medicine, Genetics, Molecular Genetics +15

Whole-genome sequencing of a sporadic primary immunodeficiency cohort

James Thaventhiran, Hana Lango Allen, Oliver S. Burren et al. · Nature · 2020 · 242 citations · Full text

Life Sciences, Immunology, Molecular Genetics +13

Phase 1–2 Trial of AAVS3 Gene Therapy in Patients with Hemophilia B

Pratima Chowdary, Susan Shapiro, Gillian Evans et al. · New England Journal of Medicine · 2022 · 154 citations · Full text

Medicine, Hematology, Molecular Medicine +9

Bayesian Inference Associates Rare <i>KDR</i> Variants With Specific Phenotypes in Pulmonary Arterial Hypertension

Daniel Greene, Na Zhu, Karyn Mégy et al. · Circulation Genomic and Precision Medicine · 2020 · 47 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17