Anne M. Kelly

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

Sebastian Köhler, Sandra C. Doelken, Chris Mungall et al. · Nucleic Acids Research · 2013 · 837 citations · Full text

Medicine, Biomedical Informatics, Pathology +14

Plasma Leptin and the Risk of Cardiovascular Disease in the West of Scotland Coronary Prevention Study (WOSCOPS)

A. Michael Wallace, Alex D. McMahon, Chris J. Packard et al. · Circulation · 2001 · 827 citations · Full text

Medicine, Cardiology, Endocrinology +16

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

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease

Keren Carss, Gavin Arno, Marie Erwood et al. · The American Journal of Human Genetics · 2016 · 484 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Transcriptional diversity during lineage commitment of human blood progenitors

Lu Chen, Myrto Kostadima, Joost H.A. Martens et al. · Science · 2014 · 311 citations · Full text

Life Sciences, Developmental Biology, Molecular Biology +17