Recurrent ∼100 Kb microdeletion in the chromosomal region 14q11.2, involvingCHD8gene, is associated with autism and macrocephaly

A case of 14q11.2 microdeletion with autistic features, severe obesity and facial dysmorphisms suggestive of Wolf-Hirschhorn syndrome

(2013) Gaetano Terrone et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Stem Cells as a Good Tool to Investigate Dysregulated Biological Systems in Autism Spectrum Disorders

(2013) Karina Griesi-Oliveira et al.   Autism Research

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

(2013) Sebastian Köhler et al.   NUCLEIC ACIDS RESEARCH

Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries

(2012) Michael E. Talkowski et al.   CELL

Patterns and rates of exonic de novo mutations in autism spectrum disorders

(2012) Benjamin M. Neale et al.   NATURE

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

(2012) Stephan J. Sanders et al.   NATURE

Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders

(2012) B. J. O'Roak et al.   SCIENCE

Histone H1 Recruitment by CHD8 Is Essential for Suppression of the Wnt- -Catenin Signaling Pathway

(2011) M. Nishiyama et al.   MOLECULAR AND CELLULAR BIOLOGY

Autism: The importance of getting the dose right

(2011) Leonie Welberg   NATURE REVIEWS NEUROSCIENCE

CHD8 interacts with CHD7, a protein which is mutated in CHARGE syndrome

(2010) T. Batsukh et al.   HUMAN MOLECULAR GENETICS