Jennifer O’Sullivan

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

Single-Cell Analyses Reveal Megakaryocyte-Biased Hematopoiesis in Myelofibrosis and Identify Mutant Clone-Specific Targets

Bethan Psaila, Guanlin Wang, Alba Rodríguez-Meira et al. · Molecular Cell · 2020 · 177 citations · Full text

Life Sciences, Cell Biology, Hematology +17

Single-cell multi-omics identifies chronic inflammation as a driver of TP53-mutant leukemic evolution

Alba Rodríguez-Meira, Ruggiero Norfo, Sean Wen et al. · Nature Genetics · 2023 · 144 citations · Full text

Medicine, Cancer Biology, Oncology +17