Concepedia

Antonio Rueda Martin

AR

Statistics

Publications

3

Citations

1.1K

H-Index

3

Active since

2017

Affiliations

Queen Mary University of London(Current)

Genomics England

University of Cambridge

Oxford BioMedica (United Kingdom)

William Harvey Research Institute

Antonio Rueda Martin is an author at Queen Mary University of London specializing in data science, bioinformatics, and knowledge discovery.

Top concepts

Publications per year

2017–2019

3

Publications

3

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

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The 100 000 Genomes Project: bringing whole genome sequencing to the NHS

Clare Turnbull, Richard H. Scott, Ellen Thomas et al. · BMJ · 2018 · 456 citations

Association of Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy

Rachel L. Taylor, Gavin Arno, James A. Poulter et al. · JAMA Ophthalmology · 2017 · 53 citations

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