Concepedia

Antonio Rueda Martin

AR

Statistics

Publications

4

Citations

1.1K

H-Index

4

Active since

2017

Affiliations

Queen Mary University of London(Current)

Genomics England

University of Cambridge

University College London

Oxford BioMedica (United Kingdom)

Antonio Rueda Martin is an author at Queen Mary University of London specializing in genetics, molecular genetics, and medical genetics.

Publications per year

2017–2019

4

Publications

4

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

, , +8

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

Clare Turnbull, Richard H. Scott, Ellen Thomas et al. · BMJ · 2018 · 477 citations

, , +9

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

, , +17

G2P: Using machine learning to understand and predict genes causing rare neurological disorders

Juan A. Botía, Sebastian Guelfi, David Zhang et al. · bioRxiv (Cold Spring Harbor Laboratory) · 2018 · 10 citations · Full text

, , +17

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