Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants
Lucy Loong, Cankut Çubuk, Subin Choi, Sophie Allen et autres
17 citationsGenetics in Medicine
Angie Brady
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9Publications signalées
979Citations signalées
0Affiliations récentes
Domaines associés
Genomics and Rare DiseasesRNA and protein synthesis mechanismsRetinal Development and DisordersBRCA gene mutations in cancerTelomeres, Telomerase, and Senescence
Publications récentes
Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia
Kathleen M. Gorman, Esther Meyer, Detelina Grozeva, Egidio Spinelli et autres
67 citationsThe American Journal of Human Genetics
Publisher Correction: Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data
James H. R. Farmery, Mike L. Smith, Aarnoud Huissoon, Abigail Furnell et autres
3 citationsScientific Reports
De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures
Yoko Itō, Keren Carss, Sofia Duarte, Taila Hartley et autres
49 citationsThe American Journal of Human Genetics
Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes
James Whitworth, Philip Smith, Jose‐Ezequiel Martín, Hannah D. West et autres
74 citationsThe American Journal of Human Genetics
Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data
James H. R. Farmery, Mike L. Smith, Aarnoud Huissoon, Abigail Furnell et autres
94 citationsScientific Reports
Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension
Charaka Hadinnapola, Marta Bleda, Matthias Haimel, Nicholas Screaton et autres
147 citationsCirculation
Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration
Gavin Arno, Keren Carss, Sarah Hull, Ceniz Zihni et autres
36 citationsThe American Journal of Human Genetics
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease
Keren Carss, Gavin Arno, Marie Erwood, Jonathan Stephens et autres
492 citationsThe American Journal of Human Genetics
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