Donald W. Bowden

A structural variation reference for medical and population genetics

Ryan L. Collins, Harrison Brand, Konrad J. Karczewski et al. · Nature · 2020 · 1.2K citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Genetic drivers of heterogeneity in type 2 diabetes pathophysiology

Ken Suzuki, Konstantinos Hatzikotoulas, Lorraine Southam et al. · Nature · 2024 · 513 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals

Nicola Whiffin, Konrad J. Karczewski, Xiaolei Zhang et al. · Nature Communications · 2020 · 191 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

A Large-Scale Multi-ancestry Genome-wide Study Accounting for Smoking Behavior Identifies Multiple Significant Loci for Blood Pressure

Yun Ju Sung, Thomas W Winkler, Lisa de las Fuentes et al. · The American Journal of Human Genetics · 2018 · 177 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes

Qingbo S. Wang, Emma Pierce‐Hoffman, Beryl B. Cummings et al. · Nature Communications · 2020 · 143 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14