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Ellen MCDONAGH | Lead Scientific Curator | Bsc, PhD. | Stanford University, CA | SU | Queen Mary University of London
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G2P: Using machine learning to understand and predict genes causing rare neurological disorders | bioRxiv
Single‐base substitutions in the CHM promoter as a cause of choroideremia - Radziwon - 2017 - Human Mutation - Wiley Online Library
Genomics England PanelApp
Australian Genomics launches local instance of… | Genomics England
The 100 000 Genomes Project: bringing whole genome sequencing to the NHS | The BMJ
Genomics England on Twitter: "Happy 5th birthday @PanelAppTeam! We are very proud of all that has been achieved - none of which would be possible without the support and contributions from curators,
Single‐base substitutions in the CHM promoter as a cause of choroideremia - Radziwon - 2017 - Human Mutation - Wiley Online Library
PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels | Nature Genetics
Welcome: Ellie McDonagh | EMBL
Ellen MCDONAGH | Lead Scientific Curator | Bsc, PhD. | Stanford University, CA | SU | Queen Mary University of London
Ellen MCDONAGH | Lead Scientific Curator | Bsc, PhD. | Stanford University, CA | SU | Queen Mary University of London
Ellen Thomas « 2022 ESDR Annual Meeting
G2P: Using machine learning to understand and predict genes causing rare neurological disorders | bioRxiv
Ellen MCDONAGH | Lead Scientific Curator | Bsc, PhD. | Stanford University, CA | SU | Queen Mary University of London
Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study - The Lancet Neurology
PanelApp (@PanelAppTeam) / Twitter
Ellen MCDONAGH | Lead Scientific Curator | Bsc, PhD. | Stanford University, CA | SU | Queen Mary University of London
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report | NEJM
Genomics England PanelApp
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report | NEJM
PanelApp (@PanelAppTeam) / Twitter
PDF) 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report | Angela Douglas - Academia.edu
