Exploring the landscape of pathogenic genetic variation in the ExAC population database: insights of relevance to variant classification

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Actionable exomic incidental findings in 6503 participants: challenges of variant classification

(2015) Laura M. Amendola et al.   GENOME RESEARCH

Compound heterozygous or homozygous truncating MYBPC3 mutations cause lethal cardiomyopathy with features of noncompaction and septal defects

(2014) Marja W Wessels et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A systematic approach to assessing the clinical significance of genetic variants

(2013) H Duzkale et al.   CLINICAL GENETICS

ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis and MYH-associated polyposis)

(2013) Madhuri Hegde et al.   GENETICS IN MEDICINE

GJB2-associated hearing loss: Systematic review of worldwide prevalence, genotype, and auditory phenotype

(2013) Dylan K. Chan et al.   LARYNGOSCOPE

Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database

(2013) Bryony A Thompson et al.   NATURE GENETICS

Disease gene identification strategies for exome sequencing

(2012) Christian Gilissen et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

An integrated map of genetic variation from 1,092 human genomes

(2012)   NATURE

Cystic Fibrosis Carrier Testing in an Ethnically Diverse US Population

(2011) E. M. Rohlfs et al.   CLINICAL CHEMISTRY

Familial Mediterranean Fever in the World

(2009) Eldad Ben-Chetrit et al.   ARTHRITIS AND RHEUMATISM