100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report | NEJM
Ellen McDonagh - Informatics Science Director - Open Targets | LinkedIn
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
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
Single‐base substitutions in the CHM promoter as a cause of choroideremia - Radziwon - 2017 - Human Mutation - Wiley Online Library
PanelApp (@PanelAppTeam) / Twitter
Ellen Thomas « 2022 ESDR Annual Meeting
Welcome: Ellie McDonagh | EMBL
G2P: Using machine learning to understand and predict genes causing rare neurological disorders | bioRxiv
PanelApp (@PanelAppTeam) / Twitter
PanelApp Australia
People - Open Targets
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
Ellen MCDONAGH | Lead Scientific Curator | Bsc, PhD. | Stanford University, CA | SU | Queen Mary University of London
The 100 000 Genomes Project: bringing whole genome sequencing to the NHS | The BMJ
Genomics England PanelApp
Australian Genomics launches local instance of… | Genomics England
Ellen MCDONAGH | Lead Scientific Curator | Bsc, PhD. | Stanford University, CA | SU | Queen Mary University of London
A systematic CRISPR screen defines mutational mechanisms underpinning signatures caused by replication errors and endogenous DNA damage | Nature Cancer