Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum

Verbinnen, Iris; Houge, Sofia Douzgou; Hsieh, Tzung-Chien; Lesmann, Hellen; Kirchhoff, Aron; Genevieve, David; Brimble, Elise; Lenaerts, Lisa; Haesen, Dorien; Levy, Rebecca J.; Thevenon, Julien; Faivre, Laurence; Marco, Elysa; Chong, Jessica X.; Bamshad, Mike; Patterson, Karynne; Mirzaa, Ghayda M.; Foss, Kimberly; Dobyns, William; White, Susan M.; Pais, Lynn; O'Heir, Emily; Itzikowitz, Raphaela; Donald, Kirsten A.; van der Merwe, Celia; Mussa, Alessandro; Cervini, Raffaela; Giorgio, Elisa; Roscioli, Tony; Dias, Kerith-Rae; Evans, Carey-Anne; Brown, Natasha J.; Ruiz, Anna; Quintero, Juan Pablo Trujillo; Rabin, Rachel; Pappas, John; Yuan, Hai; Lachlan, Katherine; Thomas, Simon; Devlin, Anita; Wright, Michael; Martin, Richard; Karwowska, Joanna; Posmyk, Renata; Chatron, Nicolas; Stark, Zornitza; Heath, Oliver; Delatycki, Martin; Buchert, Rebecca; Korenke, Georg-Christoph; Ramsey, Keri; Narayanan, Vinodh; Grange, Dorothy K.; Weisenberg, Judith L.; Haack, Tobias B.; Karch, Stephanie; Kipkemoi, Patricia; Mangi, Moses; Heus, Karen G. C. B. Bindels de; Wit, Marie-Claire Y. de; Barakat, Tahsin Stefan; Lim, Derek; Van Winckel, Geraldine; Spillmann, Rebecca C.; Shashi, Vandana; Jacob, Maureen; Stehr, Antonia M.; Houge, Gunnar Douzgos; Janssens, Veerle

dc.contributor.author	Buchert, Rebecca
dc.contributor.author	Haack, Tobias
dc.date.accessioned	2026-08-07T10:39:13Z
dc.date.available	2026-08-07T10:39:13Z
dc.date.issued	2025
dc.identifier.issn	0002-9297
dc.identifier.uri	http://hdl.handle.net/10900/182131
dc.language.iso	en	de_DE
dc.publisher	Cambridge : Cell Press	de_DE
dc.relation.uri	http://dx.doi.org/10.1016/j.ajhg.2025.01.021	de_DE
dc.subject.ddc	570	de_DE
dc.subject.ddc	610	de_DE
dc.title	Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum	de_DE
dc.type	Article	de_DE
utue.quellen.id	20250630000000_01387
utue.personen.roh	Verbinnen, Iris
utue.personen.roh	Houge, Sofia Douzgou
utue.personen.roh	Hsieh, Tzung-Chien
utue.personen.roh	Lesmann, Hellen
utue.personen.roh	Kirchhoff, Aron
utue.personen.roh	Genevieve, David
utue.personen.roh	Brimble, Elise
utue.personen.roh	Lenaerts, Lisa
utue.personen.roh	Haesen, Dorien
utue.personen.roh	Levy, Rebecca J.
utue.personen.roh	Thevenon, Julien
utue.personen.roh	Faivre, Laurence
utue.personen.roh	Marco, Elysa
utue.personen.roh	Chong, Jessica X.
utue.personen.roh	Bamshad, Mike
utue.personen.roh	Patterson, Karynne
utue.personen.roh	Mirzaa, Ghayda M.
utue.personen.roh	Foss, Kimberly
utue.personen.roh	Dobyns, William
utue.personen.roh	White, Susan M.
utue.personen.roh	Pais, Lynn
utue.personen.roh	O'Heir, Emily
utue.personen.roh	Itzikowitz, Raphaela
utue.personen.roh	Donald, Kirsten A.
utue.personen.roh	van der Merwe, Celia
utue.personen.roh	Mussa, Alessandro
utue.personen.roh	Cervini, Raffaela
utue.personen.roh	Giorgio, Elisa
utue.personen.roh	Roscioli, Tony
utue.personen.roh	Dias, Kerith-Rae
utue.personen.roh	Evans, Carey-Anne
utue.personen.roh	Brown, Natasha J.
utue.personen.roh	Ruiz, Anna
utue.personen.roh	Quintero, Juan Pablo Trujillo
utue.personen.roh	Rabin, Rachel
utue.personen.roh	Pappas, John
utue.personen.roh	Yuan, Hai
utue.personen.roh	Lachlan, Katherine
utue.personen.roh	Thomas, Simon
utue.personen.roh	Devlin, Anita
utue.personen.roh	Wright, Michael
utue.personen.roh	Martin, Richard
utue.personen.roh	Karwowska, Joanna
utue.personen.roh	Posmyk, Renata
utue.personen.roh	Chatron, Nicolas
utue.personen.roh	Stark, Zornitza
utue.personen.roh	Heath, Oliver
utue.personen.roh	Delatycki, Martin
utue.personen.roh	Buchert, Rebecca
utue.personen.roh	Korenke, Georg-Christoph
utue.personen.roh	Ramsey, Keri
utue.personen.roh	Narayanan, Vinodh
utue.personen.roh	Grange, Dorothy K.
utue.personen.roh	Weisenberg, Judith L.
utue.personen.roh	Haack, Tobias B.
utue.personen.roh	Karch, Stephanie
utue.personen.roh	Kipkemoi, Patricia
utue.personen.roh	Mangi, Moses
utue.personen.roh	Heus, Karen G. C. B. Bindels de
utue.personen.roh	Wit, Marie-Claire Y. de
utue.personen.roh	Barakat, Tahsin Stefan
utue.personen.roh	Lim, Derek
utue.personen.roh	Van Winckel, Geraldine
utue.personen.roh	Spillmann, Rebecca C.
utue.personen.roh	Shashi, Vandana
utue.personen.roh	Jacob, Maureen
utue.personen.roh	Stehr, Antonia M.
utue.personen.roh	Houge, Gunnar Douzgos
utue.personen.roh	Janssens, Veerle
dcterms.isPartOf.ZSTitelID	American Journal of Human Genetics	de_DE
dcterms.isPartOf.ZS-Issue	3	de_DE
dcterms.isPartOf.ZS-Volume	112	de_DE
utue.fakultaet	04 Medizinische Fakultät	de_DE