The complex and diverse genetic architecture of dilated cardiomyopathy
RE Hershberger, J Cowan, E Jordan… - Circulation …, 2021 - Am Heart Assoc
Our insight into the diverse and complex nature of dilated cardiomyopathy (DCM) genetic
architecture continues to evolve rapidly. The foundations of DCM genetics rest on marked …
architecture continues to evolve rapidly. The foundations of DCM genetics rest on marked …
The clinical utility of pediatric cardiomyopathy genetic testing: From diagnosis to a precision medicine-based approach to care
LE Parker, AP Landstrom - Progress in pediatric cardiology, 2021 - Elsevier
Background Pediatric-onset cardiomyopathies are rare yet cause significant morbidity and
mortality in affected children. Genetic testing has a major role in the clinical evaluation of …
mortality in affected children. Genetic testing has a major role in the clinical evaluation of …
DiscoVari: A Web-Based Precision Medicine Tool for Predicting Variant Pathogenicity in Cardiomyopathy- and Channelopathy-Associated Genes
LM Kurzlechner, S Kishnani, S Chowdhury… - Circulation: Genomic …, 2023 - Am Heart Assoc
BACKGROUND: With genetic testing advancements, the burden of incidentally identified
cardiac disease-associated gene variants is rising. These variants may carry a risk of …
cardiac disease-associated gene variants is rising. These variants may carry a risk of …
Determining the Likelihood of Disease Pathogenicity Among Incidentally Identified Genetic Variants in Rare Dilated Cardiomyopathy‐Associated Genes
Q Yang, AM Berkman, JE Ezekian… - Journal of the …, 2022 - Am Heart Assoc
Background As utilization of clinical exome sequencing (ES) has expanded, criteria for
evaluating the diagnostic weight of incidentally identified variants are critical to guide …
evaluating the diagnostic weight of incidentally identified variants are critical to guide …
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 …
A Titin Truncating Variant Causing a Dominant Myopathy With Cardiac Involvement in a Large Family: The Exception That Proves the Rule
KG Claeys, M Savarese, PH Jonson, V Goosens… - Neurology …, 2024 - neurology.org
Background Titin truncating variants (TTNtvs) have been repeatedly reported as causative of
recessive but not dominant skeletal muscle disorders. Objective To determine whether a …
recessive but not dominant skeletal muscle disorders. Objective To determine whether a …
Signal-to-noise analysis can inform the likelihood that incidentally identified variants in sarcomeric genes are associated with pediatric cardiomyopathy
Background: Hypertrophic cardiomyopathy (HCM) is the most common heritable
cardiomyopathy and can predispose individuals to sudden death. Most pediatric HCM …
cardiomyopathy and can predispose individuals to sudden death. Most pediatric HCM …