Sherloc: a comprehensive refinement of the ACMG–AMP variant classification criteria

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

(2017) Yuya Kobayashi et al.   Genome Medicine

Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium

(2016) Laura M. Amendola et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Tools for Predicting the Functional Impact of Nonsynonymous Genetic Variation

(2016) Haiming Tang et al.   GENETICS

Tools for Predicting the Functional Impact of Nonsynonymous Genetic Variation

(2016) Haiming Tang et al.   GENETICS

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

The Evaluation of Tools Used to Predict the Impact of Missense Variants Is Hindered by Two Types of Circularity

(2015) Dominik G. Grimm et al.   HUMAN MUTATION

ClinGen — The Clinical Genome Resource

(2015) Heidi L. Rehm et al.   NEW ENGLAND JOURNAL OF MEDICINE

Molecular Characterization of Melanoma Cases in Denmark Suspected of Genetic Predisposition

(2015) Karin A. W. Wadt et al.   PLoS One

CardioPulse ArticlesThe 2014 ESC Guidelines on the Diagnosis and Management of Hypertrophic Cardiomyopathy have been publishedThe ‘Ten Commandments’ of the ESC Hypertrophic Cardiomyopathy GuidelinesEuroPCR 2014, Hypertension and Heart Failure Track take-home messagesTales from another career: Douglas W. Losordo MDThe Kyrgyz Society of Cardiologists and Structure of Cardiology Services in Kyrgyzstan

(2014)   EUROPEAN HEART JOURNAL

Characterization of a Phenotype-Based Genetic Test Prediction Score for Unrelated Patients With Hypertrophic Cardiomyopathy

(2014) J. Martijn Bos et al.   MAYO CLINIC PROCEEDINGS

A Clinical Approach to Inherited Hypertrophy

(2013) Kyla E. Dunn et al.   Circulation-Cardiovascular Genetics

Expression Defect Size among Unclassified MLH1 Variants Determines Pathogenicity in Lynch Syndrome Diagnosis

(2013) I. Hinrichsen et al.   CLINICAL CANCER RESEARCH

A systematic approach to assessing the clinical significance of genetic variants

(2013) H Duzkale et al.   CLINICAL GENETICS

New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants

(2013) Charlotte Andreasen et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Clinical predictors of genetic testing outcomes in hypertrophic cardiomyopathy

(2013) Jodie Ingles et al.   GENETICS IN MEDICINE

ClinVar: public archive of relationships among sequence variation and human phenotype

(2013) Melissa J. Landrum et al.   NUCLEIC ACIDS RESEARCH

E-cadherin mutations and cell motility: A genotype–phenotype correlation

(2009) Ana Rita Mateus et al.   EXPERIMENTAL CELL RESEARCH

Coexisting NRAS and BRAF Mutations in Primary Familial Melanomas with Specific CDKN2A Germline Alterations

(2009) Braslav Jovanovic et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Nonsense-mediated mRNA decay

(2008) Jikai Wen et al.   BIOCHEMICAL SOCIETY TRANSACTIONS

Hereditary breast cancer: new genetic developments, new therapeutic avenues

(2008) Philippe M. Campeau et al.   HUMAN GENETICS

A large fraction of unclassified variants of the mismatch repair genesMLH1andMSH2is associated with splicing defects

(2008) Isabelle Tournier et al.   HUMAN MUTATION