ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretation

ClinGen’s RASopathy Expert Panel consensus methods for variant interpretation

(2018) Bruce D Gelb et al.   GENETICS IN MEDICINE

Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen’s Inherited Cardiomyopathy Expert Panel

(2018) Melissa A Kelly et al.   GENETICS IN MEDICINE

Development of Clinical Domain Working Groups for the Clinical Genome Resource (ClinGen): lessons learned and plans for the future

(2018) Laura V. Milko et al.   GENETICS IN MEDICINE

Gene-specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel

(2018) Jessica L. Mester et al.   HUMAN MUTATION

Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene

(2018) Diane B. Zastrow et al.   HUMAN MUTATION

Updated recommendation for the benign stand-alone ACMG/AMP criterion

(2018) Rajarshi Ghosh et al.   HUMAN MUTATION

Data sharing as a national quality improvement program: reporting on BRCA1 and BRCA2 variant-interpretation comparisons through the Canadian Open Genetics Repository (COGR)

(2017) Matthew S Lebo et al.   GENETICS IN MEDICINE

Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar

(2017) Steven M. Harrison et al.   GENETICS IN MEDICINE

A taxonomy of medical uncertainties in clinical genome sequencing

(2017) Paul K.J. Han et al.   GENETICS IN MEDICINE

Care in Specialized Centers and Data Sharing Increase Agreement in Hypertrophic Cardiomyopathy Genetic Test InterpretationCLINICAL PERSPECTIVE

(2017) Aisha Furqan et al.   Circulation-Cardiovascular Genetics

Reassessment of Genomic Sequence Variation to Harmonize Interpretation for Personalized Medicine

(2016) Kathryn B. Garber et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

Recommendations for the integration of genomics into clinical practice

(2016) Sarah Bowdin et al.   GENETICS IN MEDICINE

Gene Variant Databases and Sharing: Creating a Global Genomic Variant Database for Personalized Medicine

(2016) Lora J.H. Bean et al.   HUMAN MUTATION

Genetics of Phenylketonuria: Then and Now

(2016) Nenad Blau   HUMAN MUTATION

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

(2015) Jessica X. Chong et al.   AMERICAN JOURNAL OF HUMAN 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

ClinGen — The Clinical Genome Resource

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

ClinVar: public archive of interpretations of clinically relevant variants

(2015) Melissa J. Landrum et al.   NUCLEIC ACIDS RESEARCH

Implementing genomic medicine in the clinic: the future is here

(2013) Teri A. Manolio et al.   GENETICS IN MEDICINE