Browsing by Keywords "Autism spectrum disorder"
Now showing items 1-6 of 6
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Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism
(Elsevier, 2020-02-06)We present the largest exome sequencing study ofautism spectrum disorder (ASD) to date (n = 35,584total samples, 11,986 with ASD). Using an enhancedanalytical framework to integratedenovoand case-control rare variation, ... -
Multitask learning of gene risk for autism spectrum disorder and intellectual disability
(Bilkent University, 2020-10)Autism Spectrum Disorder (ASD) and Intellectual Disability (ID) are comorbid neurodevelopmental disorders with complex genetic architectures. Despite largescale sequencing studies only a fraction of the risk genes were ... -
De novo missense variants disrupting protein–protein interactions affect risk for autism through gene co-expression and protein networks in neuronal cell types
(BioMed Central, 2020)Background: Whole-exome sequencing studies have been useful for identifying genes that, when mutated, affect risk for autism spectrum disorder (ASD). Nonetheless, the association signal primarily arises from de novo ... -
Predicting informative spatio-temporal neurodevelopmental windows and gene risk for autism spectrum disorder
(Bilkent University, 2020-10)Autism Spectrum Disorder (ASD) is a complex neurodevelopmental disorder with a strong genetic basis. Due to its intricate nature, only a fraction of the risk genes were identified despite the effort spent on large-scale ... -
Prevalence and clinical/molecular characteristics of PTEN mutations in Turkish children with autism spectrum disorders and macrocephaly
(John Wiley & Sons Ltd., 2021-07-16)Background Phosphatase and tensin homolog (PTEN) germline mutations are associated with cancer syndromes (PTEN hamartoma tumor syndrome; PHTS) and in pediatric patients with autism spectrum disorder (ASD) and macrocephaly. ... -
Spatio-temporal gene discovery for autism spectrum disorder
(Bilkent University, 2018-05)Whole Exome Sequencing (WES) studies for Autism Spectrum Disorder (ASD) could identify only around six dozen risk genes to date, because the genetic architecture of the disorder is highly complex. To speed the gene ...
