Next-Generation Sequencing Gene Panels in Inheritable Cardiomyopathies and Channelopathies: Prevalence of Pathogenic Variants and Variants of Unknown Significance in Uncommon Genes.
Biomolecules
Mazzaccara, Cristina C; Lombardi, Raffaella R; Mirra, Bruno B; Barretta, Ferdinando F; Esposito, Maria Valeria MV; Uomo, Fabiana F; Caiazza, Martina M; Monda, Emanuele E; Losi, Maria Angela MA; Limongelli, Giuseppe G; D'Argenio, Valeria V; Frisso, Giulia G
Publication Date: 2022-10-03
Variant appearance in text: CASQ2: 928G>A; Asp310Asn; rs141314684
An International Multicenter Evaluation of Inheritance Patterns, Arrhythmic Risks, and Underlying Mechanisms of CASQ2-Catecholaminergic Polymorphic Ventricular Tachycardia.
Circulation
Ng, Kevin K; Titus, Erron W EW; Lieve, Krystien V KV; Roston, Thomas M TM; Mazzanti, Andrea A; Deiter, Frederick H FH; Denjoy, Isabelle I; Ingles, Jodie J; Till, Jan J; Robyns, Tomas T; Connors, Sean P SP; Steinberg, Christian C; Abrams, Dominic J DJ; Pang, Benjamin B; Scheinman, Melvin M MM; Bos, J Martijn JM; Duffett, Stephen A SA; van der Werf, Christian C; Maltret, Alice A; Green, Martin S MS; Rutberg, Julie J; Balaji, Seshadri S; Cadrin-Tourigny, Julia J; Orland, Kate M KM; Knight, Linda M LM; Brateng, Caitlin C; Wu, Jeremy J; Tang, Anthony S AS; Skanes, Allan C AC; Manlucu, Jaimie J; Healey, Jeff S JS; January, Craig T CT; Krahn, Andrew D AD; Collins, Kathryn K KK; Maginot, Kathleen R KR; Fischbach, Peter P; Etheridge, Susan P SP; Eckhardt, Lee L LL; Hamilton, Robert M RM; Ackerman, Michael J MJ; Noguer, Ferran Rosés I FRI; Semsarian, Christopher C; Jura, Natalia N; Leenhardt, Antoine A; Gollob, Michael H MH; Priori, Silvia G SG; Sanatani, Shubhayan S; Wilde, Arthur A M AAM; Deo, Rahul C RC; Roberts, Jason D JD
Interpreting Incidentally Identified Variants in Genes Associated With Catecholaminergic Polymorphic Ventricular Tachycardia in a Large Cohort of Clinical Whole-Exome Genetic Test Referrals.
Circulation. Arrhythmia And Electrophysiology
Landstrom, Andrew P AP; Dailey-Schwartz, Andrew L AL; Rosenfeld, Jill A JA; Yang, Yaping Y; McLean, Margaret J MJ; Miyake, Christina Y CY; Valdes, Santiago O SO; Fan, Yuxin Y; Allen, Hugh D HD; Penny, Daniel J DJ; Kim, Jeffrey J JJ
Role of common and rare variants in SCN10A: results from the Brugada syndrome QRS locus gene discovery collaborative study.
Cardiovascular Research
Behr, Elijah R ER; Savio-Galimberti, Eleonora E; Barc, Julien J; Holst, Anders G AG; Petropoulou, Evmorfia E; Prins, Bram P BP; Jabbari, Javad J; Torchio, Margherita M; Berthet, Myriam M; Mizusawa, Yuka Y; Yang, Tao T; Nannenberg, Eline A EA; Dagradi, Federica F; Weeke, Peter P; Bastiaenan, Rachel R; Ackerman, Michael J MJ; Haunso, Stig S; Leenhardt, Antoine A; Kääb, Stefan S; Probst, Vincent V; Redon, Richard R; Sharma, Sanjay S; Wilde, Arthur A; Tfelt-Hansen, Jacob J; Schwartz, Peter P; Roden, Dan M DM; Bezzina, Connie R CR; Olesen, Morten M; Darbar, Dawood D; Guicheney, Pascale P; Crotti, Lia L; , ; Jamshidi, Yalda Y
Publication Date: 2015-06-01
Variant appearance in text: CASQ2: D310N; rs141314684