Concepedia

Damian Smedley

DS

Statistics

Publications

119

Citations

14.5K

H-Index

55

Active since

1997

Affiliations

Queen Mary University of London(Current)

William Harvey Research Institute

Jackson Laboratory

Wellcome Sanger Institute

European Bioinformatics Institute

Damian Smedley is an author at Queen Mary University of London specializing in medicine, genetics, and bioinformatics.

ORCID

Top concepts

Publications per year

1997–2025

119

Publications

119

The Human Phenotype Ontology in 2021

Sebastian Köhler, Michael Gargano, Nicolas Matentzoglu et al. · Nucleic Acids Research · 2020 · 1.2K citations · Full text

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

, , +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

, , +19

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources

Sebastian Köhler, Leigh Carmody, Nicole Vasilevsky et al. · Nucleic Acids Research · 2018 · 711 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

, , +15

1–5 of 119