A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency-Reference-Cited by-同舟云学术

A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency

Published:2017-12-05 Issue:1 Volume:26 Page:54-63
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Jansen Sandra,Hoischen Alexander,Coe Bradley P.,Carvill Gemma L.,Van Esch Hilde,Bosch Daniëlle G. M.,Andersen Ulla A.,Baker Carl,Bauters Marijke,Bernier Raphael A.,van Bon Bregje W.,Claahsen-van der Grinten Hedi L.,Gecz Jozef^ORCID,Gilissen Christian^ORCID,Grillo Lucia,Hackett Anna,Kleefstra Tjitske,Koolen David,Kvarnung Malin,Larsen Martin J.^ORCID,Marcelis Carlo,McKenzie Fiona,Monin Marie-Lorraine,Nava Caroline,Schuurs-Hoeijmakers Janneke H.,Pfundt Rolph,Steehouwer Marloes,Stevens Servi J. C.,Stumpel Connie T.,Vansenne Fleur,Vinci Mirella,van de Vorst Maartje,Vries Petra de,Witherspoon Kali,Veltman Joris A.,Brunner Han G.,Mefford Heather C.,Romano Corrado^ORCID,Vissers Lisenka E. L. M.,Eichler Evan E.^ORCID,de Vries Bert B. A.

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/s41431-017-0039-5.pdf

Reference68 articles.

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2. Vissers LE, Gilissen C, Veltman JA. Genetic studies in intellectual disability and related disorders. Nat Rev Genet 2016;17:9–18.

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

4. 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 2012;380:1674–82.

5. Vissers LE, de Ligt J, Gilissen C, et al. A de novo paradigm for mental retardation. Nat Genet 2010;42:1109–12.

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