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Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies

Title: Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies
Authors: Leitão, ElsaAff1; Santini, AmandineAff2; Cogne, BenjaminAff3, Aff4, Aff5; Essid, MiriamAff6, Aff7, Aff8; Athanasiadou, MariaAff9, Aff10; LaFlamme, Christy W.Aff11, Aff12; Marijon, PierreAff5; Bernard, VirginieAff8; Jousselin, KevinAff5; Chatron, NicolasAff6, Aff7, Aff8; Barcia, GiuliaAff5, Aff13, Aff14; Keren, BorisAff5, Aff15; Mignot, CyrilAff15, Aff16; Charles, PerrineAff15; Besnard, ThomasAff3, Aff4; Paluch, RobinAff1; de Sainte Agathe, Jean-MadeleineAff5, Aff15; Almanza Fuerte, Edith P.Aff11; Sengupta, SohamAff11; Milh, MathieuAff17, Aff18; Ramond, FrancisAff19; Allan, TaliaAff20; An, IsabelleAff21; Araujo, CamilaAff22; Arpin, StéphanieAff23, Aff24; Austin-Tse, ChristinaAff25; Auvin, StéphaneAff26, Aff27; Baer, SarahAff28; Bahi-Buisson, NadiaAff14; Bak, MadsAff29; Barth, MagalieAff30; Baulac, StéphanieAff31; Bednarek-Weirauch, NathalieAff32, Aff33, Aff34; Begemann, MatthiasAff35; Bennett, Mark F.Aff20, Aff36, Aff37; Bensabath, UrielAff15; Bézieau, StéphaneAff3, Aff4; Bhouri, RakiaAff38; Biehler, MargauxAff39; Hammer, Trine BjørgAff29, Aff40; Bogoin, JulieAff15; Bonanno, EmilieAff5, Aff15; Boussion, SimonAff41; Bris, CélineAff5, Aff30, Aff42; Brosseau-Beauvir, AdelaideAff43; Bruel, Ange-LineAff44; Briand-Suleau, AudreyAff5; Buratti, JulienAff15; Celse, TristanAff8, Aff45; Chambon, PascalAff2, Aff5; Chemaly, NicoleAff14, Aff46; Chesneau, BertrandAff47; Colin, EstelleAff30, Aff42; Colmard, MaximeAff48; Colson, CindyAff41; Conrad, SolèneAff3; Courtin, ThomasAff13, Aff14; Creveaux, IsabelleAff8, Aff49; Cullier, Anne-CharlotteAff50; Dang, Louis T.Aff51; de Saint Martin, AnneAff28; de Vanssay de Blavous Legendre, CarolineAff52; Demeer, BénédicteAff53, Aff54; Denommé-Pichon, Anne-SophieAff44; Diekhoff, PhilineAff55; DiTroia, StephanieAff25; Doco-Fenzy, MartineAff3, Aff33, Aff56; Dubourg, ChristèleAff5, Aff57, Aff58; Dubucs, CharlotteAff59; Ducreux, StéphanieAff5, Aff13; Dufour, LouisAff26; Duquet, RomainAff15; Durand, BenjaminAff60; El Chehadeh, SalimaAff60; Elbracht, MiriamAff35; Faivre, LaurenceAff61; Faoucher, MarieAff5, Aff8, Aff57, Aff58; Faudet, AnneAff15; Forlani, SylvieAff31; Fradin, MélanieAff62; Gaignard, PaulineAff5, Aff63; Ganne, BenjaminAff8, Aff64; Garde, AuroreAff65; Géraud, JustineAff66; Gill, DeepakAff67, Aff68, Aff69; Goldenberg, AliceAff2; Grabli, DavidAff21, Aff31; Grisel, CoralineAff70; Gueden, SophieAff71; Gueguen, PaulAff5, Aff23, Aff24; Guerrot, Anne-MarieAff2; Guichet, AgnèsAff5, Aff30, Aff42; Haack, Tobias B.Aff72; Härting, NinaAff1; Häusler, Martin GeorgAff73; Heide, SolveigAff5, Aff15; Herget, TheresiaAff55; Héron, BénédicteAff74; Héron, DelphineAff15, Aff16; Herwig, JohannaAff55; Heulin, MathildeAff75; Holling, TessAff55; Houdayer, ClaraAff30, Aff42; Isidor, BertrandAff3; Jacquette, AuréliaAff76; Januel, LouisAff6, Aff8; Jean-Marçais, NolwennAff62; Kaiser, Frank J.Aff1; Kaya, SabineAff1; King, ChontelleAff77; Konyukh, MarinaAff5, Aff78; Kraft, FlorianAff35; Krause, JeremiasAff35; Kirstetter, RémiAff13, Aff14; Kuechler, AlmaAff1; Kurth, IngoAff35; Kutsche, KerstinAff55; Labalme, AudreyAff6; Laloy, Jean-SereneAff5, Aff13; Laugel, VincentAff28; Le Bricquir, FlorianeAff79; Lèbre, Anne-SophieAff33, Aff80, Aff81; Lebrun, MarineAff8, Aff19; Leguern, EricAff15, Aff31; Levy, JonathanAff5, Aff82; Lieffering, NicoAff77; Lyonnet, StanislasAff13, Aff14; Lüthy, KevinAff1; Macdonald, Sian M. W.Aff20; Mansour-Hendili, LamisseAff5; Maraval, JulienAff61; Marquardt, IrisAff83; Mattausch, CarolinAff1; Mercier, SandraAff3, Aff4; Messaoud, OlfaAff25, Aff84, Aff85, Aff86; Morel, GodelieveAff87; Mortreux, JérémieAff8; Munnich, ArnoldAff14; Nabbout, RimaAff14, Aff46; Nambot, SophieAff65; Navarro, VincentAff21, Aff31; Neale, AshanaAff25; Nguyen, LaetitiaAff15; Nizon, MathildeAff3; Nowak, FrédériqueAff88; O’Leary, Melanie C.Aff25; Odent, SylvieAff58, Aff62; Ojeda, Naomi MeaveAff89, Aff90; Olin, ValérieAff15; Olivieri, SimoneAff72; Õunap, KatrinAff91, Aff92; Pais, Lynn S.Aff25; Panagiotakaki, EleniAff93, Aff94; Patat, OlivierAff47; Perrin-Sabourin, LaurenceAff82; Petit, FlorenceAff41; Philippe, ChristopheAff8, Aff95; Piton, AmélieAff8, Aff39, Aff96; Planes, MarcAff97; Poirsier, CélineAff56; Pouzet, AntoineAff82; Prouteau, ClémentAff30, Aff42; Quéméner-Redon, SylviaAff5, Aff43, Aff97, Aff98; Renaud, MathildeAff99; Richard, Anne-ClaireAff2; Rio, MarlèneAff13, Aff14; Rivier, ClotildeAff100; Robin-Renaldo, FlorenceAff74; Rollier, PaulAff58, Aff62; Rossi, MassimilianoAff6, Aff94; Roubertie, AgatheAff48, Aff101; Ruault, ValentinAff102; Rupin-Mas, MaïlysAff71; Saugier-Veber, PascaleAff2, Aff5; Saunier, AlineAff95; Saneto, RussellAff103; Sarrazin, ElisabethAff104; Sarret, CatherineAff105; Schaefer, EliseAff60; Schluth-Bolard, CarolineAff8, Aff39, Aff106; Schneider, AmyAff20; Schumann, IsabellAff107, Aff108; Seplyarskiy, Vladimir B.Aff109, Aff110; Spranger, StephanieAff111; Smol, ThomasAff5, Aff41; Sturm, MarcAff72; Sunyaev, Shamil R.Aff109, Aff110; Sperelakis-Beedham, BrianAff5, Aff13, Aff14; Stenton, Sarah L.Aff25, Aff85; Stock, FriedrichAff1; Tharreau, MylèneAff112; Torun, DenizAff113; Toulouse, JosephAff93; Thiyagarajah, HarshiniAff20; Valence, StéphanieAff74; Valleix, SophieAff5, Aff114; Van-Gils, JulienAff115, Aff116; Villard, LaurentAff117, Aff118; Ville, DorothéeAff119; Villeneuve, NathalieAff17; Vitobello, AntonioAff8, Aff44; Waernessyckle, AurélieAff15; Wagner, JanAff120; Weber, YvonneAff121; Wieczorek, DagmarAff122; Witkowski, TomAff20; Yadavilli, ManyaAff89, Aff90; Yammine, TonyAff80; Zaafrane-Khachnaoui, KhaoulaAff123; Zaki, Maha S.Aff124; Ziegler, AlbanAff8, Aff47; Bramswig, Nuria C.Aff107; Lermine, AlbanAff5; Nicolas, GaelAff2, Aff5; Gleeson, Joseph G.Aff89, Aff90; Sadleir, Lynette G.Aff77; Hildebrand, Michael S.Aff20, Aff125; Scheffer, Ingrid E.Aff20, Aff126, Aff127; Whiffin, NicolaAff25, Aff128, Aff129; O’Donnell-Luria, AnneAff25, Aff84, Aff85, Aff86; Mefford, Heather C.Aff11; Blanc, PierreAff5; Thevenon, JulienAff8, Aff45, Aff130; Charbonnier, CamilleAff131; Charenton, ClémentAff9, Aff10; Depienne, ChristelAff1, Aff5, IDs41588026025475_cor1; Lesca, GaetanAff6, Aff7, Aff8, IDs41588026025475_cor2; Nava, CarolineAff5, Aff15, Aff31, IDs41588026025475_cor3
Source: Nature Genetics. 58(4):782-797
Database: Springer Nature Journals