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Three generation families: Analysis of de novo variants in autism
De novo variants (DNVs) analysis has proven to be a powerful approach to gene discovery in Autism Spectrum Disorder (ASD), which has not yet been...
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Calculating genetic risk for dysfunction in pleiotropic biological processes using whole exome sequencing data
BackgroundNumerous genes are implicated in autism spectrum disorder (ASD). ASD encompasses a wide-range and severity of symptoms and co-occurring...
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Coding and noncoding variants in EBF3 are involved in HADDS and simplex autism
BackgroundPrevious research in autism and other neurodevelopmental disorders (NDDs) has indicated an important contribution of protein-coding...
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Whole-genome analysis reveals the contribution of non-coding de novo transposon insertions to autism spectrum disorder
BackgroundRetrotransposons have been implicated as causes of Mendelian disease, but their role in autism spectrum disorder (ASD) has not been...
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Genetic counseling as preventive intervention: toward individual specification of transgenerational autism risk
BackgroundAlthough autism spectrum disorders (ASD) are among the most heritable of all neuropsychiatric syndromes, most affected children are born to...
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Recent ultra-rare inherited variants implicate new autism candidate risk genes
Autism is a highly heritable complex disorder in which de novo mutation (DNM) variation contributes significantly to risk. Using whole-genome...
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A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex
The genetic etiology of autism spectrum disorder (ASD) is multifactorial, but how combinations of genetic factors determine risk is unclear. In a...
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Statistical and functional convergence of common and rare genetic influences on autism at chromosome 16p
The canonical paradigm for converting genetic association to mechanism involves iteratively map** individual associations to the proximal genes...
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DNA methylation signature associated with Bohring-Opitz syndrome: a new tool for functional classification of variants in ASXL genes
The additional sex combs-like (ASXL) gene family—encoded by ASXL1 , ASXL2 , and ASXL3 —is crucial for mammalian development. Pathogenic variants in the ASXL...
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Rare coding variation provides insight into the genetic architecture and phenotypic context of autism
Some individuals with autism spectrum disorder (ASD) carry functional mutations rarely observed in the general population. We explored the genes...
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Shared and divergent mental health characteristics of ADNP-, CHD8- and DYRK1A-related neurodevelopmental conditions
BackgroundNeurodevelopmental conditions such as intellectual disability (ID) and autism spectrum disorder (ASD) can stem from a broad array of...
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A recurrent SHANK3 frameshift variant in Autism Spectrum Disorder
Autism Spectrum Disorder (ASD) is genetically complex with ~100 copy number variants and genes involved. To try to establish more definitive genotype...
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Parental inflammatory bowel disease and autism in children
Evidence linking parental inflammatory bowel disease (IBD) with autism in children is inconclusive. We conducted four complementary studies to...
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Exome sequencing identifies de novo splicing variant in XRCC6 in sporadic case of autism
Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder with heterogeneity in presentation, genetic etiology, and clinical outcome....
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Genome interpretation using in silico predictors of variant impact
Estimating the effects of variants found in disease driver genes opens the door to personalized therapeutic opportunities. Clinical associations and...
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PPIL4 is essential for brain angiogenesis and implicated in intracranial aneurysms in humans
Intracranial aneurysm (IA) rupture leads to subarachnoid hemorrhage, a sudden-onset disease that often causes death or severe disability. Although...
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Multiomic analyses implicate a neurodevelopmental program in the pathogenesis of cerebral arachnoid cysts
Cerebral arachnoid cysts (ACs) are one of the most common and poorly understood types of developmental brain lesion. To begin to elucidate AC...
