PDF) Whole genome sequencing for diagnosis of neurological repeat expansion disorders
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
Dr Ellen McDonagh | Royal Society
Eleanor Williams (@williams_e_m) | Twitter
Essential Characteristics of Pharmacogenomics Study Publications. - Abstract - Europe PMC
Non-coding variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms | medRxiv
Single‐base substitutions in the CHM promoter as a cause of choroideremia - Radziwon - 2017 - Human Mutation - Wiley Online Library
PDF) Late diagnoses of Dravet syndrome: How many individuals are we missing?
Ellen Mcdonagh | EMBL's European Bionformatics Institute
Genomic loci susceptible to systematic sequencing bias in clinical whole genomes. - Abstract - Europe PMC
Ellen Thomas's research works | Queen Mary, University of London, London (QMUL) and other places
Single‐base substitutions in the CHM promoter as a cause of choroideremia - Radziwon - 2017 - Human Mutation - Wiley Online Library
PanelApp Australia
PDF) Advancing Charcot-Marie-Tooth disease diagnostics, through the UK 100,000 Genomes Project
PanelApp Australia
Genomic loci susceptible to systematic sequencing bias in clinical whole genomes. - Abstract - Europe PMC
Spectrum of mutational signatures in T-cell lymphoma reveals a key role for UV radiation in cutaneous T-cell lymphoma | Scientific Reports
Lukasz Stasiak (@LPStasiak) | Twitter
Genomics England PanelApp
PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels | Nature Genetics
Single‐base substitutions in the CHM promoter as a cause of choroideremia - Radziwon - 2017 - Human Mutation - Wiley Online Library
Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution - ScienceDirect
Dr Rebecca Foulger (@beckoireF) | Twitter
GA4GH 6th Plenary Meeting
Genomics England PanelApp
