Population and evolutionary genetics of the PAH locus to uncover overdominance and adaptive mechanisms in phenylketonuria: Results from a multiethnic study.
Ebiomedicine
Oussalah, Abderrahim A; Jeannesson-Thivisol, Elise E; Chéry, Céline C; Perrin, Pascal P; Rouyer, Pierre P; Josse, Thomas T; Cano, Aline A; Barth, Magalie M; Fouilhoux, Alain A; Mention, Karine K; Labarthe, François F; Arnoux, Jean-Baptiste JB; Maillot, François F; Lenaerts, Catherine C; Dumesnil, Cécile C; Wagner, Kathy K; Terral, Daniel D; Broué, Pierre P; De Parscau, Loic L; Gay, Claire C; Kuster, Alice A; Bédu, Antoine A; Besson, Gérard G; Lamireau, Delphine D; Odent, Sylvie S; Masurel, Alice A; Rodriguez-Guéant, Rosa-Maria RM; Feillet, François F; Guéant, Jean-Louis JL; Namour, Fares F
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
American Journal Of Human Genetics
Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN
Rhee, Eugene P EP; Yang, Qiong Q; Yu, Bing B; Liu, Xuan X; Cheng, Susan S; Deik, Amy A; Pierce, Kerry A KA; Bullock, Kevin K; Ho, Jennifer E JE; Levy, Daniel D; Florez, Jose C JC; Kathiresan, Sek S; Larson, Martin G MG; Vasan, Ramachandran S RS; Clish, Clary B CB; Wang, Thomas J TJ; Boerwinkle, Eric E; O'Donnell, Christopher J CJ; Gerszten, Robert E RE
A study of common Mendelian disease carriers across ageing British cohorts: meta-analyses reveal heterozygosity for alpha 1-antitrypsin deficiency increases respiratory capacity and height.
Journal Of Medical Genetics
North, Teri-Louise TL; Ben-Shlomo, Yoav Y; Cooper, Cyrus C; Deary, Ian J IJ; Gallacher, John J; Kivimaki, Mika M; Kumari, Meena M; Martin, Richard M RM; Pattie, Alison A; Sayer, Avan Aihie AA; Starr, John M JM; Wong, Andrew A; Kuh, Diana D; Rodriguez, Santiago S; Day, Ian N M IN
Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions.
Plos One
Yu, Fuli F; Lu, Jian J; Liu, Xiaoming X; Gazave, Elodie E; Chang, Diana D; Raj, Srilakshmi S; Hunter-Zinck, Haley H; Blekhman, Ran R; Arbiza, Leonardo L; Van Hout, Cris C; Morrison, Alanna A; Johnson, Andrew D AD; Bis, Joshua J; Cupples, L Adrienne LA; Psaty, Bruce M BM; Muzny, Donna D; Yu, Jin J; Gibbs, Richard A RA; Keinan, Alon A; Clark, Andrew G AG; Boerwinkle, Eric E