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Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 3, 2026
Multi-Platform Curation in the Development of ACMG/AMP Specifications for Von Hippel-Lindau (VHL) DiseaseDeborah I Ritter, Chansonette Badduke, Kurston Doonanco, et al.
Hemasphere|November 27, 2025
Leveraging genomic diagnostics for prognostics and therapeutics in pediatric acute leukemiaHaley Newman, Derek Wong, Jinhua Wu, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 6, 2023
Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working GroupRyan J Schmidt, Marcie Steeves, Pinar Bayrak-Toydemir, et al.
The Journal of Molecular Diagnostics : JMD|December 23, 2018
Automated Clinical Exome Reanalysis Reveals Novel DiagnosesSamuel W Baker, Jill R Murrell, Addie I Nesbitt, et al.
Blood Advances|October 25, 2019
ClinGen Myeloid Malignancy Variant Curation Expert Panel recommendations for germline RUNX1 variantsXi Luo, Simone Feurstein, Shruthi Mohan, et al.
European Journal of Human Genetics : EJHG|July 1, 2026
CMIP as a novel candidate gene for neurodevelopmental and neuropsychiatric disordersMatthias De Wachter, Mathijs B van der Lei, Amber Decleve, et al.
The Journal of Molecular Diagnostics : JMD|January 22, 2022
Molecular Diagnostic Outcomes from 700 Cases: What Can We Learn from a Retrospective Analysis of Clinical Exome Sequencing?Jill R Murrell, Addie May I Nesbitt, Samuel W Baker, et al.
Genetics in Medicine Open|August 23, 2024
The challenges and opportunities of offering and integrating training in clinical molecular genetics and clinical cytogenetics: A survey of LGG Fellowship Program DirectorsJoshua L Deignan, Vimla Aggarwal, Allen E Bale, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 23, 2025
ClinGen recuration of hearing loss-associated genes demonstrates significant changes in gene-disease validity over timeKezang C Tshering, Marina T DiStefano, Andrea M Oza, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 5, 2019
Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert PanelJun Shen, Andrea M Oza, Ignacio Del Castillo, et al.
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