Alba Sanchis‐Juan

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

ExpansionHunter: a sequence-graph-based tool to analyze variation in short tandem repeat regions

Egor Dolzhenko, Viraj Deshpande, Felix Schlesinger et al. · Bioinformatics · 2019 · 409 citations · Full text

Life Sciences, Bioinformatics, Genetics +12

Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children

Courtney E. French, Isabelle Delon, Helen Dolling et al. · Intensive Care Medicine · 2019 · 254 citations · Full text

Medicine, Genetics, Pediatrics +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