PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels | Nature Genetics
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
Ellen McDonagh - Informatics Science Director - Open Targets | LinkedIn
PanelApp (@PanelAppTeam) / Twitter
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,
G2P: Using machine learning to understand and predict genes causing rare neurological disorders | bioRxiv
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People - Open Targets
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
Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution - ScienceDirect
Ellen MCDONAGH | Lead Scientific Curator | Bsc, PhD. | Stanford University, CA | SU | Queen Mary University of London
PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels | Nature Genetics
Ellen MCDONAGH | Lead Scientific Curator | Bsc, PhD. | Stanford University, CA | SU | Queen Mary University of London
PanelApp Australia
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report | NEJM
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report | NEJM
Genomics England PanelApp
Ellen MCDONAGH | Lead Scientific Curator | Bsc, PhD. | Stanford University, CA | SU | Queen Mary University of London
PDF) 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report | Angela Douglas - Academia.edu
PanelApp (@PanelAppTeam) / Twitter
Welcome: Ellie McDonagh | EMBL
PanelApp (@PanelAppTeam) / Twitter
Single‐base substitutions in the CHM promoter as a cause of choroideremia - Radziwon - 2017 - Human Mutation - Wiley Online Library
Genomics England PanelApp
Ellen Thomas « 2022 ESDR Annual Meeting
G2P: Using machine learning to understand and predict genes causing rare neurological disorders | bioRxiv
Genomics England PanelApp
