Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption

Nava, Caroline; Cogne, Benjamin; Santini, Amandine; Leitao, Elsa; Lecoquierre, Francois; Chen, Yuyang; Stenton, Sarah L.; Besnard, Thomas; Heide, Solveig; Baer, Sarah; Jakhar, Abhilasha; Neuser, Sonja; Keren, Boris; Faudet, Anne; Forlani, Sylvie; Faoucher, Marie; Uguen, Kevin; Platzer, Konrad; Afenjar, Alexandra; Alessandri, Jean-Luc; Andres, Stephanie; Angelini, Chloe; Aral, Bernard; Arveiler, Benoit; Attie-Bitach, Tania; Aubert Mucca, Marion; Banneau, Guillaume; Barakat, Tahsin Stefan; Barcia, Giulia; Baulac, Stephanie; Beneteau, Claire; Benkerdou, Fouzia; Bernard, Virginie; Bezieau, Stephane; Bonneau, Dominique; Bonnet-Dupeyron, Marie-Noelle; Boussion, Simon; Boute, Odile; Brischoux-Boucher, Elise; Bryen, Samantha J.; Buratti, Julien; Busa, Tiffany; Caliebe, Almuth; Capri, Yline; Cassinari, Kevin; Caumes, Roseline; Cenni, Camille; Chambon, Pascal; Charles, Perrine; Christodoulou, John; Colson, Cindy; Conrad, Solene; Cospain, Auriane; Coursimault, Juliette; Courtin, Thomas; Couse, Madeline; Coutton, Charles; Creveaux, Isabelle; D'Gama, Alissa M.; Dauriat, Benjamin; de Sainte Agathe, Jean-Madeleine; Del Gobbo, Giulia; Delahaye-Duriez, Andree; Delanne, Julian; Denomme-Pichon, Anne-Sophie; Dieux-Coeslier, Anne; Do Souto Ferreira, Laura; Doco-Fenzy, Martine; Drukewitz, Stephan; Duboc, Veronique; Dubourg, Christele; Duffourd, Yannis; Dyment, David; El Chehadeh, Salima; Elmaleh, Monique; Faivre, Laurence; Fennelly, Samuel; Fischer, Hanna; Fradin, Melanie; Galludec Vaillant, Camille; Ganne, Benjamin; Ghoumid, Jamal; Goel, Himanshu; Gokce-Samar, Zeynep; Goldenberg, Alice; Gonfreville Robert, Romain; Gorokhova, Svetlana; Goujon, Louise; Granier, Victoria; Gras, Mathilde; Greally, John M.; Greiten, Bianca; Gueguen, Paul; Guerrot, Anne-Marie; Guha, Saurav; Guimier, Anne; Haack, Tobias B.; Hadj Abdallah, Hamza; Halleb, Yosra; Harbuz, Radu; Harris, Madeleine

dc.contributor.author	Zeltner, Lena
dc.contributor.author	Haack, Tobias
dc.date.accessioned	2025-09-19T12:53:27Z
dc.date.available	2025-09-19T12:53:27Z
dc.date.issued	2025
dc.identifier.issn	1061-4036
dc.identifier.uri	http://hdl.handle.net/10900/170341
dc.language.iso	en	de_DE
dc.publisher	Berlin : Nature Portfolio	de_DE
dc.relation.uri	http://dx.doi.org/10.1038/s41588-025-02184-4	de_DE
dc.subject.ddc	570	de_DE
dc.subject.ddc	610	de_DE
dc.title	Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption	de_DE
dc.type	Article	de_DE
utue.kommentar.intern	mehr als 100 Autoren	de_DE
utue.quellen.id	20250630000000_00491
utue.publikation.seiten	1374–1388	de_DE
utue.personen.roh	Nava, Caroline
utue.personen.roh	Cogne, Benjamin
utue.personen.roh	Santini, Amandine
utue.personen.roh	Leitao, Elsa
utue.personen.roh	Lecoquierre, Francois
utue.personen.roh	Chen, Yuyang
utue.personen.roh	Stenton, Sarah L.
utue.personen.roh	Besnard, Thomas
utue.personen.roh	Heide, Solveig
utue.personen.roh	Baer, Sarah
utue.personen.roh	Jakhar, Abhilasha
utue.personen.roh	Neuser, Sonja
utue.personen.roh	Keren, Boris
utue.personen.roh	Faudet, Anne
utue.personen.roh	Forlani, Sylvie
utue.personen.roh	Faoucher, Marie
utue.personen.roh	Uguen, Kevin
utue.personen.roh	Platzer, Konrad
utue.personen.roh	Afenjar, Alexandra
utue.personen.roh	Alessandri, Jean-Luc
utue.personen.roh	Andres, Stephanie
utue.personen.roh	Angelini, Chloe
utue.personen.roh	Aral, Bernard
utue.personen.roh	Arveiler, Benoit
utue.personen.roh	Attie-Bitach, Tania
utue.personen.roh	Aubert Mucca, Marion
utue.personen.roh	Banneau, Guillaume
utue.personen.roh	Barakat, Tahsin Stefan
utue.personen.roh	Barcia, Giulia
utue.personen.roh	Baulac, Stephanie
utue.personen.roh	Beneteau, Claire
utue.personen.roh	Benkerdou, Fouzia
utue.personen.roh	Bernard, Virginie
utue.personen.roh	Bezieau, Stephane
utue.personen.roh	Bonneau, Dominique
utue.personen.roh	Bonnet-Dupeyron, Marie-Noelle
utue.personen.roh	Boussion, Simon
utue.personen.roh	Boute, Odile
utue.personen.roh	Brischoux-Boucher, Elise
utue.personen.roh	Bryen, Samantha J.
utue.personen.roh	Buratti, Julien
utue.personen.roh	Busa, Tiffany
utue.personen.roh	Caliebe, Almuth
utue.personen.roh	Capri, Yline
utue.personen.roh	Cassinari, Kevin
utue.personen.roh	Caumes, Roseline
utue.personen.roh	Cenni, Camille
utue.personen.roh	Chambon, Pascal
utue.personen.roh	Charles, Perrine
utue.personen.roh	Christodoulou, John
utue.personen.roh	Colson, Cindy
utue.personen.roh	Conrad, Solene
utue.personen.roh	Cospain, Auriane
utue.personen.roh	Coursimault, Juliette
utue.personen.roh	Courtin, Thomas
utue.personen.roh	Couse, Madeline
utue.personen.roh	Coutton, Charles
utue.personen.roh	Creveaux, Isabelle
utue.personen.roh	D'Gama, Alissa M.
utue.personen.roh	Dauriat, Benjamin
utue.personen.roh	de Sainte Agathe, Jean-Madeleine
utue.personen.roh	Del Gobbo, Giulia
utue.personen.roh	Delahaye-Duriez, Andree
utue.personen.roh	Delanne, Julian
utue.personen.roh	Denomme-Pichon, Anne-Sophie
utue.personen.roh	Dieux-Coeslier, Anne
utue.personen.roh	Do Souto Ferreira, Laura
utue.personen.roh	Doco-Fenzy, Martine
utue.personen.roh	Drukewitz, Stephan
utue.personen.roh	Duboc, Veronique
utue.personen.roh	Dubourg, Christele
utue.personen.roh	Duffourd, Yannis
utue.personen.roh	Dyment, David
utue.personen.roh	El Chehadeh, Salima
utue.personen.roh	Elmaleh, Monique
utue.personen.roh	Faivre, Laurence
utue.personen.roh	Fennelly, Samuel
utue.personen.roh	Fischer, Hanna
utue.personen.roh	Fradin, Melanie
utue.personen.roh	Galludec Vaillant, Camille
utue.personen.roh	Ganne, Benjamin
utue.personen.roh	Ghoumid, Jamal
utue.personen.roh	Goel, Himanshu
utue.personen.roh	Gokce-Samar, Zeynep
utue.personen.roh	Goldenberg, Alice
utue.personen.roh	Gonfreville Robert, Romain
utue.personen.roh	Gorokhova, Svetlana
utue.personen.roh	Goujon, Louise
utue.personen.roh	Granier, Victoria
utue.personen.roh	Gras, Mathilde
utue.personen.roh	Greally, John M.
utue.personen.roh	Greiten, Bianca
utue.personen.roh	Gueguen, Paul
utue.personen.roh	Guerrot, Anne-Marie
utue.personen.roh	Guha, Saurav
utue.personen.roh	Guimier, Anne
utue.personen.roh	Haack, Tobias B.
utue.personen.roh	Hadj Abdallah, Hamza
utue.personen.roh	Halleb, Yosra
utue.personen.roh	Harbuz, Radu
utue.personen.roh	Harris, Madeleine
dcterms.isPartOf.ZSTitelID	Nature Genetics	de_DE
dcterms.isPartOf.ZS-Issue	6	de_DE
dcterms.isPartOf.ZS-Volume	57	de_DE
utue.fakultaet	04 Medizinische Fakultät	de_DE