Katherine R. Smith

Mutational signature in colorectal cancer caused by genotoxic pks+ E. coli

Cayetano Pleguezuelos‐Manzano, Jens Puschhof, Axel Rosendahl Huber et al. · Nature · 2020 · 1.2K citations · Full text

Medicine, Genetics, Oncology +16

Rare variant contribution to human disease in 281,104 UK Biobank exomes

Quanli Wang, Ryan S. Dhindsa, Keren Carss et al. · Nature · 2021 · 604 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels

Antonio Rueda Martin, Eleanor Williams, Rebecca E. Foulger et al. · Nature Genetics · 2019 · 594 citations

Life Sciences, Genetics, Molecular Genetics +8

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

Strikingly Different Clinicopathological Phenotypes Determined by Progranulin-Mutation Dosage

Katherine R. Smith, John A. Damiano, Silvana Franceschetti et al. · The American Journal of Human Genetics · 2012 · 492 citations · Full text

Life Sciences, Genetics, Neurology +17