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Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes

Title: Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes
Authors: Rius, RocioAff1, Aff2; Blakes, Alexander J. M.Aff3, Aff4; Chen, YuyangAff5, Aff6; De Jonghe, JoachimAff7; Lecoquierre, FrançoisAff5, Aff8; Dawes, RuebenaAff5, Aff6; Cogne, BenjaminAff9, Aff10; Kim, Hyung ChulAff5, Aff6; Alvi, Javeria R.Aff11; Amblard, FlorenceAff12, Aff13, Aff14; Ansari, MoradAff15; Arlt, AnnabelleAff16; Austin-Tse, ChristinaAff17, Aff18, Aff19; Baer, SarahAff20, Aff21; Balasubramanian, MeenaAff22, Aff23; Balton, Elsa V.Aff24; Barcia, GiuliaAff25, Aff26; Beleza-Meireles, AnaAff27; Bernstein, Jonathan A.Aff28; Beygo, JasminAff29; Blanc, PierreAff30; Bramswig, Nuria C.Aff31; Braun, FrederikAff29; Buchzik, DanielAff32; Calame, Daniel G.Aff33, Aff34; Campbell, JamieAff15; Coutton, CharlesAff12, Aff13, Aff14; Cunningham, Chloe A.Aff35, Aff36; Dargie, NitsuhAff24; Depienne, ChristelAff29; Dipple, Katrina M.Aff37, Aff38; Dieux, AnneAff39, Aff40; Dixit, AbhijitAff41; Dreyer, LaurenAff42; Du, HaoweiAff43; El Chehadeh, SalimaAff44, Aff45; Field, MichaelAff46; Ewans, Lisa J.Aff47, Aff48, Aff49; Geiger, VanessaAff50; Gibbs, Richard A.Aff43, Aff51; Glass, IanAff37, Aff38; Grunewald, OlivierAff52, Aff53; Gueguen, PaulAff30, Aff54, Aff55; Haack, Tobias B.Aff56; Hadj Abdallah, HamzaAff25, Aff26; Harbuz, RaduAff12, Aff13, Aff14; Helbig, IngoAff57, Aff58, Aff59, Aff60; Horvath, JuditAff31; Hustinx, AlexanderAff16; Isidor, BertrandAff61; Jacquemont, Marie-LineAff54, Aff55, Aff62; Jamie, FraserAff63; Jeanne, MédéricAff54, Aff55, Aff62, Aff64; Kessler, RileyAff59; Klinkhammer, HannahAff16, Aff65; Korenke, G. ChristophAff66; Kotzaeridou, UraniaAff67; Krawitz, PeterAff16; Laurie, StevenAff68, Aff69; Leventer, Richard J.Aff36, Aff70, Aff71; Levy, Rebecca J.Aff72; Lupski, James R.Aff34, Aff43, Aff51, Aff73; Marijon, PierreAff30; McGinnis, Kaitlin E.Aff42; Mendez, RodrigoAff74; Messaoud, OlfaAff17, Aff18, Aff75, Aff76; Nava, CarolineAff30, Aff77; Nizard, MevynAff25, Aff26, Aff78; O’Donnell-Luria, AnneAff17, Aff18, Aff75, Aff79; O’Leary, Melanie C.Aff17; Olivieri, SimoneAff56; Parida, AmitavAff80; Pehlivan, DavutAff33, Aff34; Prentice, Anna JenneAff57, Aff59; Posey, Jennifer E.Aff43; Reuter, Chloe M.Aff28, Aff74; Satre, VéroniqueAff12, Aff13, Aff14; Schluth-Bolard, CarolineAff13, Aff81; Smol, ThomasAff39; Sultan, TipuAff11; Taylor, JohnAff82; Thauvin-Robinetvin, ChristelAff83; Thevenon, JulienAff12, Aff13, Aff14; Uebergang, EloiseAff70; Ueberberg, SandraAff29; Vincent-Delorme, CatherineAff40, Aff84; Wassmer, EvangelineAff85, Aff86; Westwood, EmmaAff87; Wheeler, Matthew T.Aff74; Gulec, Elif YilmazAff88, Aff89; Vanderver, AdelineAff59, Aff60; Vossough, ArastooAff90; Sanders, Stephan J.Aff91, Aff92; Banka, SiddharthAff3, Aff4; Findlay, Gregory M.Aff7; MacArthur, Daniel G.Aff1, Aff2; Simons, CasAff1, Aff2, IDs41588026025546_cor1; Whiffin, NicolaAff5, Aff6, Aff17, IDs41588026025546_cor2
Source: Nature Genetics. 58(4):761-773
Database: Springer Nature Journals