Letter to the editor.
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TL;DR: OAE Publishing Inc. as mentioned in this paper is an international scholarly publisher specializing in peer-reviewed academic journals to promote academic exchange and knowledge sharing, OAE provides an outstanding academic platform for biomedical experts and scholars all over the world.
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Abstract: OAE Publishing Inc. is an international scholarly publisher specializing in peer-reviewed academic journals. To promote academic exchange and knowledge sharing, OAE provides an outstanding academic platform for biomedical experts and scholars all over the world.
read more
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Citations
Exome sequencing data reanalysis of 200 hypertrophic cardiomyopathy patients: the HYPERGEN French cohort 5 years after the initial analysis
Hager Jaouadi,Victor Morel,Hélène Martel,Pierre Lindenbaum,Lorcan Lamy de la Chapelle,Marine Herbane,Claire Huang Lucas,Frédérique Magdinier,Harry J. Gilbert,Jean-Jacques Schott,Stéphane Zaffran,Karine Nguyen +11 more
TL;DR: Reanalysis of exome sequencing data from 200 HCM patients in the HYPERGEN cohort 5 years after initial analysis revealed increased identification of clinically relevant genetic variants, improving diagnosis for approximately half of previously undiagnosed patients.
Pathogenetics of Cardiomyopathy
A. N. Kucher,A. A. Sleptcov,M. S. Nazarenko +2 more
TL;DR: The review summarizes the current knowledge on the role that genetic factors play in primary or Mendelian cardiomyopathies (CMs) and certain secondary CM forms and single nucleotide polymorphisms (SNPs) associated with primary and secondary CMs.
Pathogenetics of Cardiomyopathy
TL;DR: Genetic factors in cardiomyopathy are diverse and include rare variants with a strong effect and common polymorphisms with a small effect.
References
Clinical Interpretation and Management of Genetic Variants.
TL;DR: The human genome contains approximately 4 million variants, whose population frequencies vary according to the ethnic backgrounds, and determining pathogenicity of the genetic variants, identified through genetic testing, in the clinical phenotype is challenging and requires complementary expertise in human molecular genetics and clinical medicine.
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Genetic basis and molecular biology of cardiac arrhythmias in cardiomyopathies.
TL;DR: A shared genetic etiology of a subset of hereditary cardiomyopathies and cardiac arrhythmias is suggested and secondary changes in ion currents, such as post-translational modifications, are common and contributors to the pathogenesis of arrh rhythmias in cardiomeopathies through altering biophysical and functional properties of the ion channels.