Towards a Better Understanding of Genotype-Phenotype Correlations and Therapeutic Targets for Cardiocutaneous Genes: The Importance of Functional Studies above Prediction.
International Journal Of Molecular Sciences
Vermeer, Mathilde C S C MCSC; Andrei, Daniela D; Marsili, Luisa L; van Tintelen, J Peter JP; Silljé, Herman H W HHW; van den Berg, Maarten P MP; van der Meer, Peter P; Bolling, Maria C MC
Findings of a 1303 Korean whole-exome sequencing study.
Experimental & Molecular Medicine
Kwak, Soo Heon SH; Chae, Jeesoo J; Choi, Seongmin S; Kim, Min Jung MJ; Choi, Murim M; Chae, Jong-Hee JH; Cho, Eun-Hae EH; Hwang, Tai Ju TJ; Jang, Se Song SS; Kim, Jong-Il JI; Park, Kyong Soo KS; Bang, Yung-Jue YJ
Electronic health record phenotype in subjects with genetic variants associated with arrhythmogenic right ventricular cardiomyopathy: a study of 30,716 subjects with exome sequencing.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Haggerty, Christopher M CM; James, Cynthia A CA; Calkins, Hugh H; Tichnell, Crystal C; Leader, Joseph B JB; Hartzel, Dustin N DN; Nevius, Christopher D CD; Pendergrass, Sarah A SA; Person, Thomas N TN; Schwartz, Marci M; Ritchie, Marylyn D MD; Carey, David J DJ; Ledbetter, David H DH; Williams, Marc S MS; Dewey, Frederick E FE; Lopez, Alexander A; Penn, John J; Overton, John D JD; Reid, Jeffrey G JG; Lebo, Matthew M; Mason-Suares, Heather H; Austin-Tse, Christina C; Rehm, Heidi L HL; Delisle, Brian P BP; Makowski, Daniel J DJ; Mehra, Vishal C VC; Murray, Michael F MF; Fornwalt, Brandon K BK
Publication Date: 2017-11
Variant appearance in text: DSC2: 2368_2370delGGA; Gly790del
A Landscape of Pharmacogenomic Interactions in Cancer.
Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28
Variant appearance in text: DSC2: 2368_2370delGGA; G790delG