Autism is a childhood neurodevelopmental disorder with a strong genetic component, yet
the identification of autism susceptibility loci remains elusive. We investigated 180 autism …

Recurrent microdeletions and microduplications of a 600-kb genomic region of chromosome
16p11.2 have been implicated in childhood-onset developmental disorders 1 , 2 , 3 . We …

▪ Abstract Autism is one of the most heritable complex disorders, with compelling evidence
for genetic factors and little or no support for environmental influence. The estimated …

Malformations of cortical development containing dysplastic neuronal and glial elements,
including hemimegalencephaly and focal cortical dysplasia, are common causes of intractable …

BACKGROUND: One genetic mechanism known to be associated with autism spectrum
disorders (ASD) is chromosomal abnormalities. The identification of copy number variants (CNV)…

To determine the molecular basis of Prader-Willi syndrome (PWS) and Angelman syndrome
(AS), we have isolated new transcripts from chromosome 15q11–q13. Two novel transcripts …

CASK is a multi-domain scaffolding protein that interacts with the transcription factor TBR1
and regulates expression of genes involved in cortical development such as RELN. Here we …

Brain malformations are individually rare but collectively common causes of developmental
disabilities 1 , 2 , 3 . Many forms of malformation occur sporadically and are associated with …

Objective: In this study, available medical literature were reviewed to determine whether
brain hypoxia as measured by brain tissue oxygen (Bto 2) levels is associated with increased …

The most common etiology for Prader-Willi syndrome and Angelmansyndrome is de novo
interstitial deletion of chromosome 15q11–q13. Deletions and other recurrent rearrangements …