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De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa

Title:	De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa
Authors:	Quinodoz, Mathieu^{Aff1, Aff2, Aff3}; Rodenburg, Kim^Aff4; Cvackova, Zuzana^Aff5; Kaminska, Karolina^{Aff1, Aff2}; de Bruijn, Suzanne E.^{Aff4, Aff6}; Iglesias-Romero, Ana Belén^{Aff1, Aff2}; Boonen, Erica G. M.^{Aff4, Aff7}; Ullah, Mukhtar^Aff1; Zomer, Nick^Aff4; Folcher, Marc^{Aff1, Aff2}; Bijon, Jacques^{Aff8, Aff9}; Holtes, Lara K.^Aff4; Tsang, Stephen H.^{Aff10, Aff11}; Corradi, Zelia^Aff4; Freund, K. Bailey^{Aff8, Aff12}; Shliaga, Stefanida^Aff4; Panneman, Daan M.^Aff4; Hitti-Malin, Rebekkah J.^Aff4; Ali, Manir^Aff13; AlTalbishi, Ala’a^Aff14; Andréasson, Sten^Aff15; Ansari, Georg^Aff2; Arno, Gavin^{Aff16, Aff17, Aff18}; Astuti, Galuh D. N.^Aff4; Ayuso, Carmen^{Aff19, Aff20}; Ayyagari, Radha^Aff21; Banfi, Sandro^{Aff22, Aff23}; Banin, Eyal^Aff24; Barakat, Tahsin Stefan^Aff25; Barboni, Mirella T. S.^Aff26; Bauwens, Miriam^{Aff27, Aff28}; Ben-Yosef, Tamar^Aff29; Bernard, Virginie^Aff30; Birch, David G.^Aff31; Biswas, Pooja^Aff21; Blanco-Kelly, Fiona^{Aff19, Aff20}; Bocquet, Beatrice^{Aff32, Aff33}; Boon, Camiel J. F.^{Aff34, Aff35}; Branham, Kari^Aff36; Bremond-Gignac, Dominique^{Aff37, Aff38}; Britten-Jones, Alexis Ceecee^Aff39; Bujakowska, Kinga M.^Aff40; Burin des Roziers, Cyril^{Aff38, Aff41, Aff42}; Cadena, Elizabeth L.^Aff43; Calzetti, Giacomo^{Aff44, Aff45}; Cancellieri, Francesca^{Aff1, Aff2}; Cattaneo, Luca^Aff46; Chadderton, Naomi^Aff47; Charbel Issa, Peter^{Aff48, Aff49}; Coutinho-Santos, Luísa^Aff50; Daiger, Stephen P.^Aff43; De Baere, Elfride^{Aff27, Aff28}; De Bruyne, Marieke^{Aff27, Aff28}; de la Cerda, Berta^Aff51; De Roach, John N.^Aff52; De Zaeytijd, Julie^{Aff53, Aff54}; Derks, Ronny^Aff4; Dhaenens, Claire-Marie^Aff55; Dudakova, Lubica^Aff56; Duncan, Jacque L.^Aff57; Farrar, G. Jane^Aff47; Feltgen, Nicolas^Aff2; Fenner, Beau J.^{Aff58, Aff59, Aff60}; Fernández-Caballero, Lidia^{Aff19, Aff20}; Ferraz Sallum, Juliana M.^Aff61; Gana, Simone^Aff46; Garanto, Alejandro^{Aff4, Aff62}; Gardner, Jessica C.^Aff17; Gilissen, Christian^Aff4; Gonzàlez-Duarte, Roser^Aff63; Goto, Kensuke^Aff64; Griffiths-Jones, Sam^Aff65; Haack, Tobias B.^{Aff66, Aff67, Aff68}; Haer-Wigman, Lonneke^Aff4; Hardcastle, Alison J.^Aff17; Hayashi, Takaaki^Aff69; Héon, Elise^Aff70; Hoefsloot, Lies H.^Aff25; Hoischen, Alexander^{Aff4, Aff71}; Holtan, Josephine P.^Aff72; Hoyng, Carel B.^Aff73; Ibanez, Manuel Benjamin B.^{Aff74, Aff75}; Inglehearn, Chris F.^Aff13; Iwata, Takeshi^Aff76; Jensson, Brynjar O.^Aff77; Jones, Kaylie^Aff31; Kalatzis, Vasiliki^{Aff32, Aff33}; Kamakari, Smaragda^Aff78; Karali, Marianthi^{Aff22, Aff79}; Kellner, Ulrich^Aff80; Klaver, Caroline C. W.^{Aff73, Aff81}; Knézy, Krisztina^Aff26; Koenekoop, Robert K.^Aff82; Kohl, Susanne^Aff83; Kominami, Taro^Aff64; Kühlewein, Laura^Aff84; Lamey, Tina M.^Aff52; Leibu, Rina^Aff85; Leroy, Bart P.^{Aff27, Aff53, Aff54}; Liskova, Petra^{Aff56, Aff86}; Lopez, Irma^Aff82; López-Rodríguez, Victor R. de J.^Aff87; Mahieu, Quinten^{Aff27, Aff28}; Mahroo, Omar A.^{Aff17, Aff18, Aff88, Aff89}; Manes, Gaël^Aff32; Mansard, Luke^{Aff30, Aff32, Aff90}; Martín-Gutiérrez, M. Pilar^Aff91; Martins, Nelson^{Aff27, Aff28}; Mauring, Laura^{Aff92, Aff93, Aff94}; McKibbin, Martin^{Aff13, Aff95}; McLaren, Terri L.^Aff52; Meunier, Isabelle^{Aff32, Aff33}; Michaelides, Michel^{Aff17, Aff18}; Millán, José M.^Aff96; Mizobuchi, Kei^Aff69; Mukherjee, Rajarshi^Aff95; Nagy, Zoltán Zsolt^Aff26; Neveling, Kornelia^Aff4; Ołdak, Monika^Aff97; Oorsprong, Michiel^Aff4; Pan, Yang^Aff76; Papachristou, Anastasia^Aff98; Percesepe, Antonio^Aff99; Pfau, Maximilian^Aff2; Pierce, Eric A.^Aff40; Place, Emily^Aff40; Ramesar, Raj^Aff100; Ramond, Francis^{Aff30, Aff101}; Rasquin, Florence Andrée^Aff102; Rice, Gillian I.^Aff65; Roberts, Lisa^Aff100; Rodríguez-Hidalgo, María^{Aff103, Aff104}; Ruiz-Ederra, Javier^{Aff103, Aff105}; Sabir, Ataf H.^{Aff106, Aff107}; Sajiki, Ai Fujita^Aff64; Sánchez-Barbero, Ana Isabel^{Aff19, Aff20}; Sarma, Asodu Sandeep^Aff24; Sangermano, Riccardo^Aff40; Santos, Cristina M.^{Aff50, Aff108}; Scarpato, Margherita^Aff22; Scholl, Hendrik P. N.^{Aff109, Aff110, Aff111}; Sharon, Dror^Aff24; Signorini, Sabrina G.^Aff112; Simonelli, Francesca^Aff79; Sousa, Ana Berta^{Aff113, Aff114}; Stefaniotou, Maria^Aff115; Stefansson, Kari^{Aff77, Aff116}; Stingl, Katarina^Aff84; Suga, Akiko^Aff76; Sulem, Patrick^Aff77; Sullivan, Lori S.^Aff43; Szabó, Viktória^Aff26; Szaflik, Jacek P.^{Aff117, Aff118}; Taurina, Gita^Aff119; Thiadens, Alberta A. H. J.^Aff81; Toomes, Carmel^Aff13; Tran, Viet H.^{Aff120, Aff121}; Tsilimbaris, Miltiadis K.^Aff98; Tsoka, Pavlina^Aff98; Vaclavik, Veronika^Aff120; Vajter, Marie^{Aff56, Aff86}; Valeina, Sandra^Aff122; Valente, Enza Maria^{Aff46, Aff123}; Valentine, Casey^Aff100; Valero, Rebeca^Aff63; Valleix, Sophie^{Aff38, Aff41, Aff42}; van Aerschot, Joseph^Aff124; van den Born, L. Ingeborgh^Aff7; Van Heetvelde, Mattias^{Aff27, Aff28}; Verhoeven, Virginie J. M.^{Aff25, Aff81}; Vincent, Andrea L.^Aff125; Webster, Andrew R.^{Aff17, Aff18}; Whelan, Laura^{Aff47, Aff126, Aff127}; Wissinger, Bernd^Aff83; Yioti, Georgia G.^Aff115; Yoshitake, Kazutoshi^Aff76; Zenteno, Juan C.^{Aff87, Aff128}; Zeuli, Roberta^Aff22; Zuleger, Theresia^Aff66; Landau, Chaim^Aff129; Jacob, Allan I.^Aff130; Lin, Siying^{Aff18, Aff131, Aff132}; Cremers, Frans P. M.^Aff4; Lee, Winston^Aff133; Ellingford, Jamie M.^{Aff65, Aff134}; Stanek, David^Aff5; Roosing, Susanne^{Aff4, IDs41588025024514_cor1}; Rivolta, Carlo^{Aff1, Aff2, Aff3}
Source:	Nature Genetics. 58(1):169-179
Database:	Springer Nature Journals