Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Thomson, Kate L KL; Ormondroyd, Elizabeth E; Harper, Andrew R AR; Dent, Tim T; McGuire, Karen K; Baksi, John J; Blair, Edward E; Brennan, Paul P; Buchan, Rachel R; Bueser, Teofila T; Campbell, Carolyn C; Carr-White, Gerald G; Cook, Stuart S; Daniels, Matthew M; Deevi, Sri V V SVV; Goodship, Judith J; Hayesmoore, Jesse B G JBG; Henderson, Alex A; Lamb, Teresa T; Prasad, Sanjay S; Rayner-Matthews, Paula P; Robert, Leema L; Sneddon, Linda L; Stark, Hannah H; Walsh, Roddy R; Ware, James S JS; Farrall, Martin M; Watkins, Hugh C HC; ,
Publication Date: 2019-07
Variant appearance in text: TTN: 95722T>C; Tyr31908His
Genome sequencing as a first-line genetic test in familial dilated cardiomyopathy.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Minoche, Andre E AE; Horvat, Claire C; Johnson, Renee R; Gayevskiy, Velimir V; Morton, Sarah U SU; Drew, Alexander P AP; Woo, Kerhan K; Statham, Aaron L AL; Lundie, Ben B; Bagnall, Richard D RD; Ingles, Jodie J; Semsarian, Christopher C; Seidman, J G JG; Seidman, Christine E CE; Dinger, Marcel E ME; Cowley, Mark J MJ; Fatkin, Diane D
Publication Date: 2019-03
Variant appearance in text: TTN: 95722T>C; Y31908H