Diverse monogenic subforms of human spermatogenic failure.
Nature Communications
Nagirnaja, Liina L; Lopes, Alexandra M AM; Charng, Wu-Lin WL; Miller, Brian B; Stakaitis, Rytis R; Golubickaite, Ieva I; Stendahl, Alexandra A; Luan, Tianpengcheng T; Friedrich, Corinna C; Mahyari, Eisa E; Fadial, Eloise E; Kasak, Laura L; Vigh-Conrad, Katinka K; Oud, Manon S MS; Xavier, Miguel J MJ; Cheers, Samuel R SR; James, Emma R ER; Guo, Jingtao J; Jenkins, Timothy G TG; Riera-Escamilla, Antoni A; Barros, Alberto A; Carvalho, Filipa F; Fernandes, Susana S; Gonçalves, João J; Gurnett, Christina A CA; Jørgensen, Niels N; Jezek, Davor D; Jungheim, Emily S ES; Kliesch, Sabine S; McLachlan, Robert I RI; Omurtag, Kenan R KR; Pilatz, Adrian A; Sandlow, Jay I JI; Smith, James J; Eisenberg, Michael L ML; Hotaling, James M JM; Jarvi, Keith A KA; Punab, Margus M; Rajpert-De Meyts, Ewa E; Carrell, Douglas T DT; Krausz, Csilla C; Laan, Maris M; O'Bryan, Moira K MK; Schlegel, Peter N PN; Tüttelmann, Frank F; Veltman, Joris A JA; Almstrup, Kristian K; Aston, Kenneth I KI; Conrad, Donald F DF
Publication Date: 2022-12-26
Variant appearance in text: ROM1: 724C>T; Arg242Ter; rs147065010
Rare and common variants in ROM1 and PRPH2 genes trans-modify Stargardt/ABCA4 disease.
Plos Genetics
Zernant, Jana J; Lee, Winston W; Wang, Jun J; Goetz, Kerry K; Ullah, Ehsan E; Nagasaki, Takayuki T; Su, Pei-Yin PY; Fishman, Gerald A GA; Tsang, Stephen H SH; Tumminia, Santa J SJ; Brooks, Brian P BP; Hufnagel, Robert B RB; Chen, Rui R; Allikmets, Rando R
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