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
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Töpf, Ana A; Johnson, Katherine K; Bates, Adam A; Phillips, Lauren L; Chao, Katherine R KR; England, Eleina M EM; Laricchia, Kristen M KM; Mullen, Thomas T; Valkanas, Elise E; Xu, Liwen L; Bertoli, Marta M; Blain, Alison A; Casasús, Ana B AB; Duff, Jennifer J; Mroczek, Magdalena M; Specht, Sabine S; Lek, Monkol M; Ensini, Monica M; MacArthur, Daniel G DG; , ; Straub, Volker V
Publication Date: 2020-09
Variant appearance in text: TTN: 55351C>T; R18451*
A novel recessive TTN founder variant is a common cause of distal myopathy in the Serbian population.
European Journal Of Human Genetics : Ejhg
Perić, Stojan S; Glumac, Jelena Nikodinović JN; Töpf, Ana A; Savić-Pavićević, Dušanka D; Phillips, Lauren L; Johnson, Katherine K; Cassop-Thompson, Marcus M; Xu, Liwen L; Bertoli, Marta M; Lek, Monkol M; MacArthur, Daniel D; Brkušanin, Miloš M; Milenković, Sanja S; Rašić, Vedrana Milić VM; Banko, Bojan B; Maksimović, Ružica R; Lochmüller, Hanns H; Stojanović, Vidosava Rakočević VR; Straub, Volker V
Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma.
Cell Reports
Giannakis, Marios M; Mu, Xinmeng Jasmine XJ; Shukla, Sachet A SA; Qian, Zhi Rong ZR; Cohen, Ofir O; Nishihara, Reiko R; Bahl, Samira S; Cao, Yin Y; Amin-Mansour, Ali A; Yamauchi, Mai M; Sukawa, Yasutaka Y; Stewart, Chip C; Rosenberg, Mara M; Mima, Kosuke K; Inamura, Kentaro K; Nosho, Katsuhiko K; Nowak, Jonathan A JA; Lawrence, Michael S MS; Giovannucci, Edward L EL; Chan, Andrew T AT; Ng, Kimmie K; Meyerhardt, Jeffrey A JA; Van Allen, Eliezer M EM; Getz, Gad G; Gabriel, Stacey B SB; Lander, Eric S ES; Wu, Catherine J CJ; Fuchs, Charles S CS; Ogino, Shuji S; Garraway, Levi A LA