A systematic CRISPR screen defines mutational mechanisms underpinning signatures caused by replication errors and endogenous DNA damage | Nature Cancer
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,
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100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report | NEJM
Genomics England Archives - Global Genes
Genomics England PanelApp
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
Genomics England PanelApp
PDF) 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report | Angela Douglas - Academia.edu
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 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
The 100 000 Genomes Project: bringing whole genome sequencing to the NHS | The BMJ
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
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report | NEJM
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Ellen Thomas « 2022 ESDR Annual Meeting
