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Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2017
Clinically impactful differences in variant interpretation between clinicians and testing laboratories: a single-center experienceAustin Bland, Elizabeth A Harrington, Kyla Dunn, et al.
Heart Rhythm|June 29, 2014
Molecular diagnosis of long QT syndrome at 10 days of life by rapid whole genome sequencingJames R Priest, Scott R Ceresnak, Frederick E Dewey, et al.
Biorxiv : the Preprint Server for Biology|December 25, 2025
Multiparametric Assessment of TNNI3 Variant Phenotypes in Human iPSC-Cardiomyocytes Correlates with Disease Severity in PatientsDavid W Staudt, Peter Pq Tran, Brendan J Floyd, 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.
Circulation. Genomic and Precision Medicine|July 2, 2024
Multisite Validation of a Functional Assay to Adjudicate SCN5A Brugada Syndrome-Associated VariantsJoanne G Ma, Matthew J O'Neill, Ebony Richardson, et al.
Medrxiv : the Preprint Server for Health Sciences|January 10, 2024
Multi-site validation of a functional assay to adjudicate SCN5A Brugada Syndrome-associated variantsJoanne G Ma, Matthew J O'Neill, Ebony Richardson, 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.
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