Ellen Thomas « 2022 ESDR Annual Meeting
PanelApp (@PanelAppTeam) / Twitter
Genomics England PanelApp
Australian Genomics launches local instance of… | Genomics England
Genomics England PanelApp
Welcome: Ellie McDonagh | EMBL
Ellen MCDONAGH | Lead Scientific Curator | Bsc, PhD. | Stanford University, CA | SU | Queen Mary University of London
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
People - Open Targets
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report | NEJM
Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution - ScienceDirect
A systematic CRISPR screen defines mutational mechanisms underpinning signatures caused by replication errors and endogenous DNA damage | Nature Cancer
PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels | Nature Genetics
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
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
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
Genomics England Archives - Global Genes
PanelApp (@PanelAppTeam) / Twitter
Ellen MCDONAGH | Lead Scientific Curator | Bsc, PhD. | Stanford University, CA | SU | Queen Mary University of London
