[HTML][HTML] Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism
We present the largest exome sequencing study of autism spectrum disorder (ASD) to date
(n= 35,584 total samples, 11,986 with ASD). Using an enhanced analytical framework to�…
(n= 35,584 total samples, 11,986 with ASD). Using an enhanced analytical framework to�…
Autism spectrum disorders: from genes to neurobiology
AJ Willsey, MW State�- Current opinion in neurobiology, 2015 - Elsevier
Highlights•High throughput genomic methods are rapidly increasing the pool of ASD
genes.•Heterogeneity, pleiotropy, and brain complexity complicate translation to�…
genes.•Heterogeneity, pleiotropy, and brain complexity complicate translation to�…
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
We are performing whole-genome sequencing of families with autism spectrum disorder
(ASD) to build a resource (MSSNG) for subcategorizing the phenotypes and underlying�…
(ASD) to build a resource (MSSNG) for subcategorizing the phenotypes and underlying�…
[HTML][HTML] Exome sequencing of extended families with autism reveals genes shared across neurodevelopmental and neuropsychiatric disorders
Abstract Background Autism spectrum disorders (ASDs) comprise a range of
neurodevelopmental conditions of varying severity, characterized by marked qualitative�…
neurodevelopmental conditions of varying severity, characterized by marked qualitative�…
[HTML][HTML] Genetic architecture of autism spectrum disorder: Lessons from large-scale genomic studies
L Choi, JY An�- Neuroscience & Biobehavioral Reviews, 2021 - Elsevier
Autism spectrum disorder (ASD) is a neurodevelopmental disorder with a strong genetic
component. Recently developed genomic technologies, including microarray and next�…
component. Recently developed genomic technologies, including microarray and next�…
[HTML][HTML] Using whole-exome sequencing to identify inherited causes of autism
Despite significant heritability of autism spectrum disorders (ASDs), their extreme genetic
heterogeneity has proven challenging for gene discovery. Studies of primarily simplex�…
heterogeneity has proven challenging for gene discovery. Studies of primarily simplex�…
Gene expression studies in autism: moving from the genome to the transcriptome and beyond
I Voineagu�- Neurobiology of disease, 2012 - Elsevier
Autism is a clinically and genetically heterogeneous neurodevelopmental disorder. Although
multiple genes, risk alleles and copy number variants (CNVs) have been implicated in ASD�…
multiple genes, risk alleles and copy number variants (CNVs) have been implicated in ASD�…
[HTML][HTML] Rare inherited variation in autism: beginning to see the forest and a few trees
In this issue of Neuron, two papers (Lim et al., 2013; Yu et al., 2013) use whole-exome
sequencing (WES) to elucidate the contribution of inherited variation to the risk for autism by�…
sequencing (WES) to elucidate the contribution of inherited variation to the risk for autism by�…
[HTML][HTML] Integrative genomics identifies a convergent molecular subtype that links epigenomic with transcriptomic differences in autism
Autism spectrum disorder (ASD) is a phenotypically and genetically heterogeneous
neurodevelopmental disorder. Despite this heterogeneity, previous studies have shown�…
neurodevelopmental disorder. Despite this heterogeneity, previous studies have shown�…
Genetics of autism spectrum disorder
G Ramaswami, DH Geschwind�- Handbook of clinical neurology, 2018 - Elsevier
Autism spectrum disorder (ASD) is a prevalent neurodevelopmental disorder characterized
by impaired social interaction and stereotyped behaviors. ASD has a strong and complex�…
by impaired social interaction and stereotyped behaviors. ASD has a strong and complex�…