Richard H. Scott

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

Cayetano Pleguezuelos‐Manzano, Jens Puschhof, Axel Rosendahl Huber et al. · Nature · 2020 · 1.1K citations · Full text

Medicine, Pathogenesis, Colorectal Cancer +8

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 · 834 citations · Full text

Engineering, Genetics, Updated Hpo Database +19

Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study

Jenny Lord, Dominic McMullan, Ruth Y. Eberhardt et al. · The Lancet · 2019 · 694 citations · Full text

PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels

Antonio Rueda Martin, Eleanor Williams, Rebecca E. Foulger et al. · Nature Genetics · 2019 · 554 citations

Panelapp Crowdsources, Functional Genomics, Engineering +15

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 · 463 citations · Full text

Whole-genome Sequencing, Allelic Variant, Genetic Disorder +11