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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.American Journal of Human Genetics|August 31, 2023
The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimating penetrance for secondary findingsKathryn A McGurk, Xiaolei Zhang, Pantazis Theotokis, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 5, 2018
Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert PanelMelissa A Kelly, Colleen Caleshu, Ana Morales, et al.The Journal of Molecular Diagnostics : JMD|February 25, 2021
Harmonizing the Collection of Clinical Data on Genetic Testing Requisition Forms to Enhance Variant Interpretation in Hypertrophic Cardiomyopathy (HCM): A Study from the ClinGen Cardiomyopathy Variant Curation Expert PanelAna Morales, Alexander Ing, Christian Antolik, et al.Proceedings of the National Academy of Sciences of the United States of America|September 30, 2016
Early somatic mosaicism is a rare cause of long-QT syndromeJames Rush Priest, Charles Gawad, Kristopher M Kahlig, et al.JAMA|January 10, 2016
Association of Arrhythmia-Related Genetic Variants With Phenotypes Documented in Electronic Medical RecordsSara L Van Driest, Quinn S Wells, Sarah Stallings, et al.Pageof 2