Munaza Ahmed

Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles

Sheila Seal, Deborah J. Thompson, Anthony Renwick et al. · Nature Genetics · 2006 · 755 citations

Life Sciences, Genetics, Molecular Genetics +13

ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles

Anthony Renwick, Deborah J. Thompson, Sheila Seal et al. · Nature Genetics · 2006 · 740 citations

Life Sciences, Genetics, Molecular Genetics +14

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

Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders

Víctor Faùndes, William G. Newman, Laura Bernardini et al. · The American Journal of Human Genetics · 2017 · 278 citations · Full text

Life Sciences, Genetics, Molecular Biology +14

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