De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations-Reference-Cited by-同舟云学术

De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations

Published:2016-02 Issue:2 Volume:98 Page:373-381
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Reijnders Margot R.F.,Zachariadis Vasilios,Latour Brooke,Jolly Lachlan,Mancini Grazia M.,Pfundt Rolph,Wu Ka Man,van Ravenswaaij-Arts Conny M.A.,Veenstra-Knol Hermine E.,Anderlid Britt-Marie M.,Wood Stephen A.,Cheung Sau Wai,Barnicoat Angela,Probst Frank,Magoulas Pilar,Brooks Alice S.,Malmgren Helena,Harila-Saari Arja,Marcelis Carlo M.,Vreeburg Maaike,Hobson Emma,Sutton V. Reid,Stark Zornitza,Vogt Julie,Cooper Nicola,Lim Jiin Ying,Price Sue,Lai Angeline Hwei Meeng,Domingo Deepti,Reversade Bruno,Gecz Jozef,Gilissen Christian,Brunner Han G.,Kini Usha,Roepman Ronald,Nordgren Ann,Kleefstra Tjitske

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference51 articles.

1. Fragile X and X-linked intellectual disability: four decades of discovery;Lubs;Am. J. Hum. Genet.,2012

2. XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing;Piton;Am. J. Hum. Genet.,2013

3. A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation;Tarpey;Nat. Genet.,2009

4. X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes;Hu;Mol. Psychiatry,2016

5. Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability;Whibley;Am. J. Hum. Genet.,2010

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