Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution

An International, Multicentered, Evidence-Based Reappraisal of Genes Reported to Cause Congenital Long QT Syndrome

(2020) Arnon Adler et al.   CIRCULATION

Integrating Genomics into Healthcare: A Global Responsibility

(2019) Zornitza Stark et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Which genes to assess in the NGS diagnostics of intellectual disability? The case for a consensus database-driven and expert-curated approach

(2019) Florian Erger et al.   MOLECULAR AND CELLULAR PROBES

ClinGen expert clinical validity curation of 164 hearing loss gene–disease pairs

(2019) Marina T. DiStefano et al.   GENETICS IN MEDICINE

Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP

(2019) Anja Thormann et al.   Nature Communications

Australian Genomics: A Federated Model for Integrating Genomics into Healthcare

(2019) Zornitza Stark et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Assessing the strength of evidence for genes implicated in fatty acid oxidation disorders using the ClinGen clinical validity framework

(2019) Jennifer L. McGlaughon et al.   MOLECULAR GENETICS AND METABOLISM

Mendelian Gene Discovery: Fast and Furious with No End in Sight

(2019) Michael J. Bamshad et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Diagnostic gene sequencing panels: from design to report—a technical standard of the American College of Medical Genetics and Genomics (ACMG)

(2019) Lora J. H. Bean et al.   GENETICS IN MEDICINE

PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels

(2019) Antonio Rueda Martin et al.   NATURE GENETICS

Customized multigene panels in epilepsy: the best things come in small packages

(2019) Simona Pellacani et al.   NEUROGENETICS

Reappraisal of Reported Genes for Sudden Arrhythmic Death: An Evidence-Based Evaluation of Gene Validity for Brugada Syndrome

(2018) S. Mohsen Hosseini et al.   CIRCULATION

Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders

(2018) Caroline F Wright et al.   GENETICS IN MEDICINE

Does genomic sequencing early in the diagnostic trajectory make a difference? A follow-up study of clinical outcomes and cost-effectiveness

(2018) Zornitza Stark et al.   GENETICS IN MEDICINE

The 100 000 Genomes Project: bringing whole genome sequencing to the NHS

(2018) Clare Turnbull et al.   BMJ-British Medical Journal

The 100 000 Genomes Project: bringing whole genome sequencing to the NHS

(2018) Clare Turnbull et al.   BMJ-British Medical Journal

Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and Dissection

(2018) Marjolijn Renard et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

A National French consensus on gene lists for the diagnosis of myopathies using next-generation sequencing

(2018) Martin Krahn et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Assessing the gene-disease association of 19 genes with the RASopathies using the ClinGen gene curation framework

(2018) Andrew R. Grant et al.   HUMAN MUTATION

Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach

(2018) Steven M. Harrison et al.   HUMAN MUTATION

Diagnostic Yield of Intellectual Disability Gene Panels

(2018) Heather Pekeles et al.   PEDIATRIC NEUROLOGY

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

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

Erratum: Guidelines for diagnostic next-generation sequencing

(2016) Gert Matthijs et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The Monarch Initiative: an integrative data and analytic platform connecting phenotypes to genotypes across species

(2016) Christopher J. Mungall et al.   NUCLEIC ACIDS RESEARCH

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

Review of Commercially Available Epilepsy Genetic Panels

(2015) Chelsea Chambers et al.   Journal of Genetic Counseling