Pathogenic variant burden in the ExAC database: an empirical approach to evaluating population data for clinical variant interpretation

Integration of 60,000 exomes and ACMG guidelines question the role of Catecholaminergic Polymorphic Ventricular Tachycardia-associated variants

(2016) C. Paludan-Müller et al.   CLINICAL GENETICS

Numerous Brugada syndrome–associated genetic variants have no effect on J-point elevation, syncope susceptibility, malignant cardiac arrhythmia, and all-cause mortality

(2016) Jonas Ghouse et al.   GENETICS IN MEDICINE

Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples

(2016) Roddy Walsh et al.   GENETICS IN MEDICINE

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Genetic Misdiagnoses and the Potential for Health Disparities

(2016) Arjun K. Manrai et al.   NEW ENGLAND JOURNAL OF MEDICINE

Prevalence and spectrum of BRCA germline variants in mainland Chinese familial breast and ovarian cancer patients

(2016) Yeong C. Kim et al.   Oncotarget

New recurrent BRCA1/2 mutations in Polish patients with familial breast/ovarian cancer detected by next generation sequencing

(2015) Anna Kluska et al.   BMC Medical Genomics

Rare genetic variants previously associated with congenital forms of long QT syndrome have little or no effect on the QT interval

(2015) Jonas Ghouse et al.   EUROPEAN HEART JOURNAL

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

(2015) Wei Song et al.   GENETICS IN MEDICINE

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

Comprehensive spectrum ofBRCA1andBRCA2deleterious mutations in breast cancer in Asian countries

(2015) Ava Kwong et al.   JOURNAL OF MEDICAL GENETICS

A Systematic Comparison of Traditional and Multigene Panel Testing for Hereditary Breast and Ovarian Cancer Genes in More Than 1000 Patients

(2015) Stephen E. Lincoln et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Nonsense-mediated mRNA decay: an intricate machinery that shapes transcriptomes

(2015) Søren Lykke-Andersen et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Pathogenic Variants for Mendelian and Complex Traits in Exomes of 6,517 European and African Americans: Implications for the Return of Incidental Results

(2014) Holly K. Tabor et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Utilizing Ethnic-Specific Differences in Minor Allele Frequency to Recategorize Reported Pathogenic Deafness Variants

(2014) A. Eliot Shearer et al.   AMERICAN JOURNAL OF HUMAN GENETICS

High burden of private mutations due to explosive human population growth and purifying selection

(2014) Feng Gao et al.   BMC GENOMICS

Comprehensive BRCA1 and BRCA2 mutational profile in Lithuania

(2014) Ramūnas Janavičius et al.   Cancer Genetics

Actionable, Pathogenic Incidental Findings in 1,000 Participants’ Exomes

(2013) Michael O. Dorschner et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutational analysis of BRCA1 and BRCA2 in hereditary breast and ovarian cancer families from Asturias (Northern Spain)

(2013) Pilar Blay et al.   BMC CANCER

The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

(2013) Peter D. Stenson et al.   HUMAN GENETICS

Central European BRCA2 mutation carriers: Birth cohort status correlates with onset of breast cancer

(2013) Muy-Kheng M. Tea et al.   MATURITAS

Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene

(2013) Patrick R Sosnay et al.   NATURE GENETICS

Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes

(2013) Slavé Petrovski et al.   PLoS Genetics

A Comprehensive Focus on Global Spectrum ofBRCA1andBRCA2Mutations in Breast Cancer

(2013) Fatemeh Karami et al.   Biomed Research International

Evaluating Pathogenicity of Rare Variants From Dilated Cardiomyopathy in the Exome Era

(2012) Nadine Norton et al.   Circulation-Cardiovascular Genetics

Haplotype analysis and ancient origin of the BRCA1 c.4035delA Baltic founder mutation

(2012) Ramūnas Janavičius et al.   European Journal of Medical Genetics

A guide for functional analysis ofBRCA1variants of uncertain significance

(2012) Gaël A. Millot et al.   HUMAN MUTATION

Development and Validation of a Computational Method for Assessment of Missense Variants in Hypertrophic Cardiomyopathy

(2011) Daniel M. Jordan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Short Communication: The Cardiac Myosin Binding Protein C Arg502Trp Mutation

(2010) Adam J. Saltzman et al.   CIRCULATION RESEARCH

The contribution of founder mutations in BRCA1 to breast cancer in Belarus

(2010) N Uglanitsa et al.   CLINICAL GENETICS

Characterization ofBRCA1andBRCA2deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study

(2010) Åke Borg et al.   HUMAN MUTATION

Founder BRCA1/2 mutations in the Europe: implications for hereditary breast-ovarian cancer prevention and control

(2010) Ramūnas Janavičius   EPMA Journal

Common Breast Cancer-Predisposition Alleles Are Associated with Breast Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

(2008) Antonis C. Antoniou et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genetic analysis of BRCA1 and BRCA2 in breast/ovarian cancer families from Aragon (Spain): two novel truncating mutations and a large genomic deletion in BRCA1

(2008) M. D. Miramar et al.   BREAST CANCER RESEARCH AND TREATMENT