Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder

Hengel, Holger; Hannan, Shabab B.; Dyack, Sarah; MacKay, Sara B.; Schatz, Ulrich; Fleger, Martin; Kurringer, Andreas; Balousha, Ghassan; Ghanim, Zaid; Alkuraya, Fowzan S.; Alzaidan, Hamad; Alsaif, Hessa S.; Mitani, Tadahiro; Bozdogan, Sevcan; Pehlivan, Davut; Lupski, James R.; Gleeson, Joseph J.; Dehghani, Mohammadreza; Mehrjardi, Mohammad Y., V; Sherr, Elliott H.; Parks, Kendall C.; Argilli, Emanuela; Begtrup, Amber; Galehdari, Hamid; Balousha, Osama; Shariati, Gholamreza; Mazaheri, Neda; Malamiri, Reza A.; Pagnamenta, Alistair T.; Kingston, Helen; Banka, Siddharth; Jackson, Adam; Osmond, Mathew; Riess, Angelika; Haack, Tobias B.; Naegele, Thomas; Schuster, Stefanie; Hauser, Stefan; Admard, Jakob; Casadei, Nicolas; Velic, Ana; Macek, Boris; Ossowski, Stephan; Houlden, Henry; Maroofian, Reza; Schoels, Ludger

dc.contributor.author	Hengel, Holger
dc.contributor.author	Hannan, Shabab B.
dc.contributor.author	Riess, Angelika
dc.contributor.author	Schuster, Stefanie
dc.contributor.author	Hauser, Stefan
dc.contributor.author	Admard, Jakob
dc.contributor.author	Casadei, Nicolas
dc.contributor.author	Velic, Ana
dc.contributor.author	Macek, Boris
dc.contributor.author	Ossowski, Stephan
dc.contributor.author	Haack, Tobias
dc.contributor.author	Nägele, Thomas
dc.contributor.author	Schöls, Ludger
dc.date.accessioned	2021-11-09T12:32:00Z
dc.date.available	2021-11-09T12:32:00Z
dc.date.issued	2021
dc.identifier.issn	1537-6605
dc.identifier.uri	http://hdl.handle.net/10900/120593
dc.language.iso	en	de_DE
dc.publisher	Cell Press	de_DE
dc.relation.uri	http://dx.doi.org/10.1016/j.ajhg.2021.04.024	de_DE
dc.subject.ddc	570	de_DE
dc.subject.ddc	610	de_DE
dc.title	Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder	de_DE
dc.type	Article	de_DE
utue.quellen.id	20210824232002_00795
utue.publikation.seiten	1069-1082	de_DE
utue.personen.roh	Hengel, Holger
utue.personen.roh	Hannan, Shabab B.
utue.personen.roh	Dyack, Sarah
utue.personen.roh	MacKay, Sara B.
utue.personen.roh	Schatz, Ulrich
utue.personen.roh	Fleger, Martin
utue.personen.roh	Kurringer, Andreas
utue.personen.roh	Balousha, Ghassan
utue.personen.roh	Ghanim, Zaid
utue.personen.roh	Alkuraya, Fowzan S.
utue.personen.roh	Alzaidan, Hamad
utue.personen.roh	Alsaif, Hessa S.
utue.personen.roh	Mitani, Tadahiro
utue.personen.roh	Bozdogan, Sevcan
utue.personen.roh	Pehlivan, Davut
utue.personen.roh	Lupski, James R.
utue.personen.roh	Gleeson, Joseph J.
utue.personen.roh	Dehghani, Mohammadreza
utue.personen.roh	Mehrjardi, Mohammad Y., V
utue.personen.roh	Sherr, Elliott H.
utue.personen.roh	Parks, Kendall C.
utue.personen.roh	Argilli, Emanuela
utue.personen.roh	Begtrup, Amber
utue.personen.roh	Galehdari, Hamid
utue.personen.roh	Balousha, Osama
utue.personen.roh	Shariati, Gholamreza
utue.personen.roh	Mazaheri, Neda
utue.personen.roh	Malamiri, Reza A.
utue.personen.roh	Pagnamenta, Alistair T.
utue.personen.roh	Kingston, Helen
utue.personen.roh	Banka, Siddharth
utue.personen.roh	Jackson, Adam
utue.personen.roh	Osmond, Mathew
utue.personen.roh	Riess, Angelika
utue.personen.roh	Haack, Tobias B.
utue.personen.roh	Naegele, Thomas
utue.personen.roh	Schuster, Stefanie
utue.personen.roh	Hauser, Stefan
utue.personen.roh	Admard, Jakob
utue.personen.roh	Casadei, Nicolas
utue.personen.roh	Velic, Ana
utue.personen.roh	Macek, Boris
utue.personen.roh	Ossowski, Stephan
utue.personen.roh	Houlden, Henry
utue.personen.roh	Maroofian, Reza
utue.personen.roh	Schoels, Ludger
dcterms.isPartOf.ZSTitelID	American Journal of Human Genetics	de_DE
dcterms.isPartOf.ZS-Issue	6	de_DE
dcterms.isPartOf.ZS-Volume	108	de_DE
utue.fakultaet	04 Medizinische Fakultät	de_DE
utue.fakultaet	07 Mathematisch-Naturwissenschaftliche Fakultät	de_DE