Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina.
Npj Genomic Medicine
Schlottmann, Patricio G PG; Luna, José D JD; Labat, Natalia N; Yadarola, María Belén MB; Bainttein, Silvina S; Esposito, Evangelina E; Ibañez, Agustina A; Barbaro, Evangelina Ivón EI; Álvarez Mendiara, Alejandro A; Picotti, Carolina P CP; Chirino Misisian, Andrea A; Andreussi, Luciana L; Gras, Julieta J; Capalbo, Luciana L; Visotto, Mauro M; Dipierri, José E JE; Alcoba, Emilio E; Fernández Gabrielli, Laura L; Ávila, Silvia S; Aucar, María Emilia ME; Martin, Daniel M DM; Ormaechea, Gerardo Juan GJ; Inga, M Eugenia ME; Francone, Aníbal A AA; Charles, Martin M; Zompa, Tamara T; Pérez, Pablo Javier PJ; Lotersztein, Vanesa V; Nuova, Pedro J PJ; Canonero, Ivana B IB; Mahroo, Omar A OA; Michaelides, Michel M; Arno, Gavin G; Daich Varela, Malena M
Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.
Molecular Psychiatry
Jia, Xiaoming X; Goes, Fernando S FS; Locke, Adam E AE; Palmer, Duncan D; Wang, Weiqing W; Cohen-Woods, Sarah S; Genovese, Giulio G; Jackson, Anne U AU; Jiang, Chen C; Kvale, Mark M; Mullins, Niamh N; Nguyen, Hoang H; Pirooznia, Mehdi M; Rivera, Margarita M; Ruderfer, Douglas M DM; Shen, Ling L; Thai, Khanh K; Zawistowski, Matthew M; Zhuang, Yongwen Y; Abecasis, Gonçalo G; Akil, Huda H; Bergen, Sarah S; Burmeister, Margit M; Chapman, Sinéad S; DelaBastide, Melissa M; Juréus, Anders A; Kang, Hyun Min HM; Kwok, Pui-Yan PY; Li, Jun Z JZ; Levy, Shawn E SE; Monson, Eric T ET; Moran, Jennifer J; Sobell, Janet J; Watson, Stanley S; Willour, Virginia V; Zöllner, Sebastian S; Adolfsson, Rolf R; Blackwood, Douglas D; Boehnke, Michael M; Breen, Gerome G; Corvin, Aiden A; Craddock, Nick N; DiFlorio, Arianna A; Hultman, Christina M CM; Landen, Mikael M; Lewis, Cathryn C; McCarroll, Steven A SA; Richard McCombie, W W; McGuffin, Peter P; McIntosh, Andrew A; McQuillin, Andrew A; Morris, Derek D; Myers, Richard M RM; O'Donovan, Michael M; Ophoff, Roel R; Boks, Marco M; Kahn, Rene R; Ouwehand, Willem W; Owen, Michael M; Pato, Carlos C; Pato, Michele M; Posthuma, Danielle D; Potash, James B JB; Reif, Andreas A; Sklar, Pamela P; Smoller, Jordan J; Sullivan, Patrick F PF; Vincent, John J; Walters, James J; Neale, Benjamin B; Purcell, Shaun S; Risch, Neil N; Schaefer, Catherine C; Stahl, Eli A EA; Zandi, Peter P PP; Scott, Laura J LJ
Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease.
Human Genetics
Muller, Jean J; Stoetzel, C C; Vincent, M C MC; Leitch, C C CC; Laurier, V V; Danse, J M JM; Hellé, S S; Marion, V V; Bennouna-Greene, V V; Vicaire, S S; Megarbane, A A; Kaplan, J J; Drouin-Garraud, V V; Hamdani, M M; Sigaudy, S S; Francannet, C C; Roume, J J; Bitoun, P P; Goldenberg, A A; Philip, N N; Odent, S S; Green, J J; Cossée, M M; Davis, E E EE; Katsanis, N N; Bonneau, D D; Verloes, A A; Poch, O O; Mandel, J L JL; Dollfus, H H