A duplication of the wholeKIAA2022gene validates the gene role in the pathogenesis of intellectual disability and autism

XLID-Causing Mutations and Associated Genes Challenged in Light of Data From Large-Scale Human Exome Sequencing

(2013) Amélie Piton et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Next generation sequencing in nonsyndromic intellectual disability: From a negative molecular karyotype to a possible causative mutation detection

(2013) Emmanouil Athanasakis et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth

(2013) Lionel Van Maldergem et al.   HUMAN MOLECULAR GENETICS

Rare Complete Knockouts in Humans: Population Distribution and Significant Role in Autism Spectrum Disorders

(2013) Elaine T. Lim et al.   NEURON

Fragile X and X-Linked Intellectual Disability: Four Decades of Discovery

(2012) Herbert A. Lubs et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Copy number variants, diseases and gene expression

(2009) C. N. Henrichsen et al.   HUMAN MOLECULAR GENETICS