Evaluation of the association of heterozygous germline variants in NTHL1 with breast cancer predisposition: an international multi-center study of 47,180 subjects

- 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

A non-coding variant in the 5ʹ UTR of DLG3 attenuates protein translation to cause non-syndromic intellectual disability

- 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

Partitioning heritability of regulatory and cell-type-specific variants across 11 common diseases

- 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