This study tracks the clinical progression of NGLY1 Deficiency in 29 patients over 32 months, identifying key symptoms and biomarkers for future trial endpoints.

Human Molecular Genetics · Jun 25, 2023Peer-reviewedGenetic & Genomic Medicine

ClinGen Variant Curation Interface: A Variant Classification Platform for the Application of Evidence Criteria from ACMG/AMP Guidelines

Christine G. Preston, Matt W. Wright, Rao Madhavrao, Steven M. Harrison, Jennifer Goldstein, Xi Luo, Hannah Wand, Bryan Wulf, Gloria Cheung, Mark E. Mandell, Howard Tong, Shaung Cheng, Michael A. Iacocca, Arturo López Pineda, Alice B. Popejoy, , Helio A. Costa

The paper introduces the ClinGen Variant Curation Interface, a platform for applying ACMG/AMP guidelines to classify genetic variants, enabling collaboration and standardization in clinical variant interpretation.

Genome Medicine · Jan 17, 2022Peer-reviewedGenetic & Genomic Medicine

Evaluating the clinical validity of gene-disease associations: an evidence-based framework developed by the Clinical Genome Resource

Natasha T. Strande, Erin Rooney Riggs, Adam H. Buchanan, Ozge Ceyhan‐Birsoy, Marina T. DiStefano, Selina S. Dwight, Jenny Goldstein, Rajarshi Ghosh, Bryce A. Seifert, Tam P. Sneddon, Matt W. Wright, Laura V. Milko, J. Michael Cherry, Monica A. Giovanni, Michael F. Murray, , Jonathan S. Berg

The paper presents a framework to evaluate the clinical validity of gene-disease associations, validated using representative gene-disease pairs.

The American Journal of Human Genetics · May 25, 2017Peer-reviewedGenetics