Prevalence and Disease Expression of Pathogenic and Likely Pathogenic Variants Associated With Inherited Cardiomyopathies in the General Population.
Circulation. Genomic And Precision Medicine
Bourfiss, Mimount M; van Vugt, Marion M; Alasiri, Abdulrahman I AI; Ruijsink, Bram B; Setten, Jessica van JV; Schmidt, Amand F AF; Dooijes, Dennis D; Puyol-Antón, Esther E; Velthuis, Birgitta K BK; Tintelen, J Peter van JPV; Te Riele, Anneline S J M ASJM; Baas, Annette F AF; Asselbergs, Folkert W FW
Identification of an elusive spliceogenic MYBPC3 variant in an otherwise genotype-negative hypertrophic cardiomyopathy pedigree.
Scientific Reports
Torrado, Mario M; Maneiro, Emilia E; Lamounier Junior, Arsonval A; Fernández-Burriel, Miguel M; Sánchez Giralt, Sara S; Martínez-Carapeto, Ana A; Cazón, Laura L; Santiago, Elisa E; Ochoa, Juan Pablo JP; McKenna, William J WJ; Santomé, Luis L; Monserrat, Lorenzo L
Publication Date: 2022-05-04
Variant appearance in text: MYBPC3: 927-9G>A; rs397516083
Genetic variants associated with inherited cardiovascular disorders among 13,131 asymptomatic older adults of European descent.
Npj Genomic Medicine
Lacaze, Paul P; Sebra, Robert R; Riaz, Moeen M; Ingles, Jodie J; Tiller, Jane J; Thompson, Bryony A BA; James, Paul A PA; Fatkin, Diane D; Semsarian, Christopher C; Reid, Christopher M CM; Tonkin, Andrew M AM; Winship, Ingrid I; Schadt, Eric E; McNeil, John J JJ
Publication Date: 2021-06-16
Variant appearance in text: MYBPC3: 927-9G>A; rs397516083
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Plos Genetics
Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM
Publication Date: 2019-10
Variant appearance in text: MYBPC3: 927-9G>A; rs397516083