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Circulation. Genomic and Precision Medicine|March 12, 2020
Variant Interpretation for Dilated Cardiomyopathy: Refinement of the American College of Medical Genetics and Genomics/ClinGen Guidelines for the DCM Precision Medicine StudyAna Morales, Daniel D Kinnamon, Elizabeth Jordan, et al.
Proceedings of the National Academy of Sciences of the United States of America|February 13, 2013
Severity of cardiomyopathy associated with adenine nucleotide translocator-1 deficiency correlates with mtDNA haplogroupKevin A Strauss, Lauren DuBiner, Mariella Simon, et al.
Circulation. Genomic and Precision Medicine|November 22, 2021
Mono- and Biallelic Protein-Truncating Variants in Alpha-Actinin 2 Cause Cardiomyopathy Through Distinct MechanismsMalene E Lindholm, David Jimenez-Morales, Han Zhu, et al.
Proceedings of the National Academy of Sciences of the United States of America|April 21, 2012
Mitochondrial DNA variant associated with Leber hereditary optic neuropathy and high-altitude TibetansFuyun Ji, Mark S Sharpley, Olga Derbeneva, et al.
Cold Spring Harbor Molecular Case Studies|May 6, 2016
De novo truncating variants in the AHDC1 gene encoding the AT-hook DNA-binding motif-containing protein 1 are associated with intellectual disability and developmental delayHui Yang, Ganka Douglas, Kristin G Monaghan, et al.
Human Mutation|June 10, 2020
An assessment of the role of vinculin loss of function variants in inherited cardiomyopathyMegan H Hawley, Naif Almontashiri, Leslie G Biesecker, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 22, 2014
Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathwayGregory M Enns, Vandana Shashi, Matthew Bainbridge, et al.
Medrxiv : the Preprint Server for Health Sciences|November 19, 2025
Cardiovascular genetic counseling is associated with improved patient-reported outcomes across clinical indications and settingsBrittney Murray, Catherine Gordon, Susan Christian, et al.
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