Network expansion of genetic associations defines a pleiotropy map of human cell biology.
Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Functional Evaluation and Genetic Landscape of Children and Young Adults Referred for Assessment of Bronchiectasis.
Frontiers In Genetics
Chau, Jeffrey Fong Ting JFT; Lee, Mianne M; Chui, Martin Man Chun MMC; Yu, Mullin Ho Chung MHC; Fung, Jasmine Lee Fong JLF; Mak, Christopher Chun Yu CCY; Chau, Christy Shuk-Kuen CS; Siu, Ka Ka KK; Hung, Jacqueline J; Yeung, Kit San KS; Kwong, Anna Ka Yee AKY; O'Callaghan, Christopher C; Lau, Yu Lung YL; Lee, Chun-Wai Davy CD; Chung, Brian Hon-Yin BH; Lee, So-Lun SL
Forskolin-induced organoid swelling is associated with long-term cystic fibrosis disease progression.
The European Respiratory Journal
Muilwijk, Danya D; de Poel, Eyleen E; van Mourik, Peter P; Suen, Sylvia W F SWF; Vonk, Annelotte M AM; Brunsveld, Jesse E JE; Kruisselbrink, Evelien E; Oppelaar, Hugo H; Hagemeijer, Marne C MC; Berkers, Gitte G; de Winter-de Groot, Karin M KM; Heida-Michel, Sabine S; Jans, Stephan R SR; van Panhuis, Hannah H; van der Eerden, Menno M MM; van der Meer, Renske R; Roukema, Jolt J; Dompeling, Edward E; Weersink, Els J M EJM; Koppelman, Gerard H GH; Vries, Robert R; Zomer-van Ommen, Domenique D DD; Eijkemans, Marinus J C MJC; van der Ent, Cornelis K CK; Beekman, Jeffrey M JM
Sequencing as a first-line methodology for cystic fibrosis carrier screening.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Beauchamp, Kyle A KA; Johansen Taber, Katherine A KA; Grauman, Peter V PV; Spurka, Lindsay L; Lim-Harashima, Jeraldine J; Svenson, Ashley A; Goldberg, James D JD; Muzzey, Dale D
CFTR founder mutation causes protein trafficking defects in Chinese patients with cystic fibrosis.
Molecular Genetics & Genomic Medicine
Leung, Gordon K C GK; Ying, Dingge D; Mak, Christopher C Y CC; Chen, Xin-Ying XY; Xu, Weiyi W; Yeung, Kit-San KS; Wong, Wai-Lap WL; Chu, Yoyo W Y YW; Mok, Gary T K GT; Chau, Christy S K CS; McLuskey, Jenna J; Ong, Winnie P T WP; Leong, Huey-Yin HY; Chan, Kelvin Y K KY; Yang, Wanling W; Chen, Jeng-Haur JH; Li, Albert M AM; Sham, Pak C PC; Lau, Yu-Lung YL; Chung, Brian H Y BH; Lee, So-Lun SL