De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms-Reference-Cited by-同舟云学术

De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms

Published:2019-01-24 Issue:5 Volume:27 Page:738-746
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Jansen Sandra^ORCID,van der Werf Ilse M.^ORCID,Innes A. Micheil^ORCID,Afenjar Alexandra,Agrawal Pankaj B.,Anderson Ilse J.,Atwal Paldeep S.,van Binsbergen Ellen,van den Boogaard Marie-José,Castiglia Lucia,Coban-Akdemir Zeynep H.,van Dijck Anke^ORCID,Doummar Diane,van Eerde Albertien M.,van Essen Anthonie J.,van Gassen Koen L.,Guillen Sacoto Maria J.,van Haelst Mieke M.,Iossifov Ivan,Jackson Jessica L.,Judd Elizabeth,Kaiwar Charu^ORCID,Keren Boris,Klee Eric W.,Klein Wassink-Ruiter Jolien S.,Meuwissen Marije E.,Monaghan Kristin G.,de Munnik Sonja A.,Nava Caroline,Ockeloen Charlotte W.,Pettinato Rosa,Racher Hilary,Rinne Tuula^ORCID,Romano Corrado^ORCID,Sanders Victoria R.,Schnur Rhonda E.,Smeets Eric J.,Stegmann Alexander P. A.,Stray-Pedersen Asbjørg,Sweetser David A.^ORCID,Terhal Paulien A.,Tveten Kristian^ORCID,VanNoy Grace E.,de Vries Petra F.,Waxler Jessica L.,Willing Marcia,Pfundt Rolph,Veltman Joris A.,Kooy R. Frank^ORCID,Vissers Lisenka E. L. M.,de Vries Bert B. A.

Funder

ZonMw

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/s41431-018-0292-2.pdf

Reference59 articles.

1. Rauch A, Wieczorek D, Graf E, et al. Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. Lancet (Lond, Engl). 2012;380:1674–82.

2. Gilissen C, Hehir-Kwa JY, Thung DT, et al. Genome sequencing identifies major causes of severe intellectual disability. Nature. 2014;511:344–7.

3. Wright CF, Fitzgerald TW, Jones WD, et al. Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data. Lancet (Lond, Engl). 2015;385:1305–14.