Next-generation sequencing gene panels in Inheritable cardiomyopathies and channelopathies: prevalence of pathogenic variants and variants of unknown …
C Mazzaccara, R Lombardi, B Mirra, F Barretta… - Biomolecules, 2022 - mdpi.com
The diffusion of next-generation sequencing (NGS)-based approaches allows for the
identification of pathogenic mutations of cardiomyopathies and channelopathies in more …
identification of pathogenic mutations of cardiomyopathies and channelopathies in more …
Interpretation of incidental genetic findings localizing to genes associated with cardiac channelopathies and cardiomyopathies
JE Ezekian, C Rehder, PS Kishnani… - Circulation: Genomic …, 2021 - Am Heart Assoc
Recent advances in next-genetic sequencing technology have facilitated an expansion in
the use of exome and genome sequencing in the research and clinical settings. While this …
the use of exome and genome sequencing in the research and clinical settings. While this …
Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significance
FHM Van Lint, ORF Mook, M Alders, H Bikker… - Netherlands Heart …, 2019 - Springer
Background Genetic heterogeneity is common in inherited cardiac diseases. Next-
generation sequencing gene panels are therefore suitable for genetic diagnosis. We …
generation sequencing gene panels are therefore suitable for genetic diagnosis. We …
Next-generation sequencing to identify genetic causes of cardiomyopathies
N Norton, D Li, RE Hershberger - Current opinion in cardiology, 2012 - journals.lww.com
Next-generation sequencing to identify genetic causes of car... : Current Opinion in
Cardiology Next-generation sequencing to identify genetic causes of cardiomyopathies …
Cardiology Next-generation sequencing to identify genetic causes of cardiomyopathies …
Molecular diagnosis of inherited cardiac diseases in the era of next-generation sequencing: a single center's experience over 5 years
A Janin, L Januel, C Cazeneuve, A Delinière… - Molecular Diagnosis & …, 2021 - Springer
Background and objective Molecular diagnosis in inherited cardiac diseases is challenging
because of the significant genetic and clinical heterogeneity. We present a detailed …
because of the significant genetic and clinical heterogeneity. We present a detailed …
Pathogenicity assignment of variants in genes associated with cardiac channelopathies evolve toward diagnostic uncertainty
MB Rosamilia, IM Lu, AP Landstrom - Circulation: Genomic and …, 2022 - Am Heart Assoc
Background: Accurately determining variant pathogenicity is critical in the diagnosis of
cardiac channelopathies; however, it remains unknown how variant pathogenicity status …
cardiac channelopathies; however, it remains unknown how variant pathogenicity status …
[HTML][HTML] Inherited cardiomyopathies: molecular genetics and clinical genetic testing in the postgenomic era
P Teekakirikul, MA Kelly, HL Rehm… - The Journal of Molecular …, 2013 - Elsevier
Inherited cardiomyopathies include hypertrophic cardiomyopathy, dilated cardiomyopathy,
arrhythmogenic right ventricular cardiomyopathy, left ventricular noncompaction, and …
arrhythmogenic right ventricular cardiomyopathy, left ventricular noncompaction, and …
Genetic testing for potentially lethal, highly treatable inherited cardiomyopathies/channelopathies in clinical practice
DJ Tester, MJ Ackerman - Circulation, 2011 - Am Heart Assoc
The molecular millennium has bestowed researchers with the essential tools to identify the
underlying genetic substrates for thousands of genetic disorders, most of which are rare and …
underlying genetic substrates for thousands of genetic disorders, most of which are rare and …
Next generation sequencing‐based copy number analysis reveals low prevalence of deletions and duplications in 46 genes associated with genetic …
O Ceyhan‐Birsoy, TJ Pugh, MJ Bowser… - Molecular genetics & …, 2016 - Wiley Online Library
Background Diagnostic testing for genetic cardiomyopathies has undergone dramatic
changes in the last decade with next generation sequencing (NGS) expanding the number …
changes in the last decade with next generation sequencing (NGS) expanding the number …
Targeted analysis of whole genome sequence data to diagnose genetic cardiomyopathy
JR Golbus, MJ Puckelwartz… - Circulation …, 2014 - Am Heart Assoc
Background—Cardiomyopathy is highly heritable but genetically diverse. At present, genetic
testing for cardiomyopathy uses targeted sequencing to simultaneously assess the coding …
testing for cardiomyopathy uses targeted sequencing to simultaneously assess the coding …