Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder
Holger Hengel(University Children's Hospital Tübingen), Lüdger Schöls(German Center for Neurodegenerative Diseases), Ana Velić(University of Tübingen), Zaïd Ghanim(Palestinian Hydrology Group), Angelika Rieß(University of Tübingen), Jakob Admard(University of Tübingen), Tobias B. Haack(Technical University of Munich), Sara MacKay(Izaak Walton Killam Health Centre), Adam Jackson(Sanford Health), Ghassan Balousha(Al-Quds University), Davut Pehli̇van(Baylor College of Medicine), Mohammadreza Dehghani(Azienda Unita' Sanitaria Locale Di Modena), Hamid Galehdari(Shahid Chamran University of Ahvaz), Thomas Nägele, Osama Balousha(Al-Quds University), Hamad Alzaidan(King Faisal Specialist Hospital & Research Centre), Sevcan Tuğ Bozdoğan(Cukurova University), Andreas Kurringer(Landeskrankenhaus Feldkirch), Emanuela Argilli(University of California, San Francisco), Stefan Hauser(German Center for Neurodegenerative Diseases), Amber Begtrup, Sarah Dyack(Dalhousie University), Stefanie Schuster(German Center for Neurodegenerative Diseases), Kendall C. Parks(University of California, San Francisco), Ulrich A. Schatz(Innsbruck Medical University), Nicolas Casadei(Bernstein Center for Computational Neuroscience Tübingen), Mathew Osmond(University of Ottawa), Alistair T. Pagnamenta(University College London), Siddharth Banka(University of Manchester), Hessa S. Alsaif(King Faisal Specialist Hospital & Research Centre), Neda Mazaheri(Shahid Chamran University of Ahvaz), Shabab B. Hannan(German Center for Neurodegenerative Diseases), Elliott H. Sherr(University of California, San Francisco), Reza Azizi Malamiri(Ahvaz Jundishapur University of Medical Sciences), Henry Houlden(University College London), Martin Fleger(Landeskrankenhaus Feldkirch), Reza Maroofian(National Hospital for Neurology and Neurosurgery), Fowzan S. Alkuraya(Alfaisal University), Boris Maček(Quantitative BioSciences), Gholamreza Shariati(Ahvaz Jundishapur University of Medical Sciences), Mohammad Yahya Vahidi Mehrjardi(Shahid Sadoughi University of Medical Sciences and Health Services), Stephan Ossowski(University of Southern California), Tadahiro Mitani(Baylor College of Medicine), Joseph J Gleeson(Howard Hughes Medical Institute), Helen Kingston(Trafford General Hospital), James R. Lupski(Baylor College of Medicine)
Cited by 17
Related Papers
Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders
|New England Journal of Medicine|2013|2k
Genome-wide association study reveals genetic risk underlying Parkinson's disease
|Nature Genetics|2009|2k