Associated Papers
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
Unveiling the Spectrum of Minor Genes in Cardiomyopathies: A Narrative Review.
Micolonghi C et al.
International Journal of Molecular Sciences, 2024
Genotype and Cardiac Outcomes in Pediatric Dilated Cardiomyopathy.
Khan RS et al.
Journal of the American Heart Association, 2022
Genetic Causes of Cardiomyopathy in Children: First Results From the Pediatric Cardiomyopathy Genes Study.
Ware SM et al.
Journal of the American Heart Association, 2021
Deficiency in nebulin repeats of sarcomeric nebulette is detrimental for cardiomyocyte tolerance to exercise and biomechanical stress.
Vejandla RM et al.
American Journal of Physiology. Heart and Circulatory Physiology, 2021
Targeted next generation sequencing in a young population with suspected inherited malignant cardiac arrhythmias.
Broendberg AK et al.
European Journal of Human Genetics : Ejhg, 2018
Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar.
Harrison SM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
Walsh R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Psychological and behavioural impact of returning personal results from whole-genome sequencing: the HealthSeq project.
Sanderson SC et al.
European Journal of Human Genetics : Ejhg, 2017
Analyses of more than 60,000 exomes questions the role of numerous genes previously associated with dilated cardiomyopathy.
Nouhravesh N et al.
Molecular Genetics & Genomic Medicine, 2016
Mutations in NEBL encoding the cardiac Z-disk protein nebulette are associated with various cardiomyopathies.
Perrot A et al.
Archives of Medical Science : Ams, 2016
Nebulette knockout mice have normal cardiac function, but show Z-line widening and up-regulation of cardiac stress markers.
Mastrototaro G et al.
Cardiovascular Research, 2015
Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis.
Pagnamenta AT et al.
Human Molecular Genetics, 2015
Roles of Nebulin Family Members in the Heart.
Bang ML et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 2015
New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants.
Andreasen C et al.
European Journal of Human Genetics : Ejhg, 2013
Genetics of sudden cardiac death syndromes.
Chopra N et al.
Current Opinion in Cardiology, 2011
Nebulette mutations are associated with dilated cardiomyopathy and endocardial fibroelastosis.
Purevjav E et al.
Journal of the American College of Cardiology, 2010
Nebulette mutations in cardiac remodeling: big effects from a small mechanosensor.
Ram R et al.
Journal of the American College of Cardiology, 2010