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