Evaluation of the association of heterozygous germline variants in NTHL1 with breast cancer predisposition: an international multi-center study of 47,180 subjects
- Creator: Li, Na , Zethoven, Magnus , Nguyen-Dumont, Tu , Southey, Melissa C. , Hopper, John L. , Simard, Jacques , Dumont, Martine , Soucy, Penny , Meindl, Alfons , Schmutzler, Rita , Schmidt, Marjanka K. , Adank, Muriel A. , McInerny, Simone , Andrulis, Irene L. , Hahnen, E , Engel, C , Lesueur, F , Girard, E , Neuhausen, SL , Ziv, E , Allen, J , Easton, DF , Scott, Rodney J. , Devereux, Lisa , Gorringe, KL , James, PA , Campbell, IG , Huang, Yu-Kuan , Thio, Niko , Cheasley, Dane , Gutiérrez-Enríquez, Sara , Moles-Fernández, Alejandro , Diez, Orland
- Resource Type: journal article
- Date: 2021
A non-coding variant in the 5ʹ UTR of DLG3 attenuates protein translation to cause non-syndromic intellectual disability
- Creator: Kumar, Raman , Ha, Thuong , Pham, Duyen , Shaw, Marie , Mangelsdorf, Marie , Friend, Kathryn L. , Hobson, Lynne , Turner, Gillian , Boyle, Jackie , Field, Michael , Hackett, Anna , Corbett, Mark , Gecz, Jozef
- Resource Type: journal article
- Date: 2016
Partitioning heritability of regulatory and cell-type-specific variants across 11 common diseases
- Creator: Gusev, Alexander , Lee, S. Hong , Kähler, Anna K. , Hultman, Christina M. , Purcell, Shaun M. , McCarroll, Steven A. , Daly, Mark , Pasaniuc, Bogdan , Sullivan, Patrick F. , Neale, Benjamin M. , Wray, Naomi R. , Raychaudhuri, Soumya , Trynka, Gosia , Price, Alkes L. , Finucane, Hilary , Vilhjálmsson, Bjarni J. , Xu, Han , Zang, Chongzhi , Ripke, Stephan , Bulik-Sullivan, Brendan , Stahl, Eli
- Resource Type: journal article
- Date: 2014