Genomics, convergent neuroscience and progress in understanding autism spectrum disorder
More than a hundred genes have been identified that, when disrupted, impart large risk for
autism spectrum disorder (ASD). Current knowledge about the encoded proteins—although …
autism spectrum disorder (ASD). Current knowledge about the encoded proteins—although …
Big data approaches to decomposing heterogeneity across the autism spectrum
Autism is a diagnostic label based on behavior. While the diagnostic criteria attempt to
maximize clinical consensus, it also masks a wide degree of heterogeneity between and …
maximize clinical consensus, it also masks a wide degree of heterogeneity between and …
Identification of common genetic risk variants for autism spectrum disorder
Autism spectrum disorder (ASD) is a highly heritable and heterogeneous group of
neurodevelopmental phenotypes diagnosed in more than 1% of children. Common genetic …
neurodevelopmental phenotypes diagnosed in more than 1% of children. Common genetic …
[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 …
Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders
Autism spectrum disorder (ASD) risk is influenced by common polygenic and de novo
variation. We aimed to clarify the influence of polygenic risk for ASD and to identify …
variation. We aimed to clarify the influence of polygenic risk for ASD and to identify …
Reconsidering animal models used to study autism spectrum disorder: Current state and optimizing future
Neurodevelopmental disorders (NDDs), including autism spectrum disorder (ASD) and
intellectual disability (ID), are pervasive, often lifelong disorders, lacking evidence‐based …
intellectual disability (ID), are pervasive, often lifelong disorders, lacking evidence‐based …
Genetics and genomics of psychiatric disease
Large-scale genomic investigations have just begun to illuminate the molecular genetic
contributions to major psychiatric illnesses, ranging from small-effect-size common variants …
contributions to major psychiatric illnesses, ranging from small-effect-size common variants …
Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24. 32 and a significant overlap with schizophrenia
Molecular autism, 2017 - Springer
Background Over the past decade genome-wide association studies (GWAS) have been
applied to aid in the understanding of the biology of traits. The success of this approach is …
applied to aid in the understanding of the biology of traits. The success of this approach is …
Gene hunting in autism spectrum disorder: on the path to precision medicine
DH Geschwind - The Lancet Neurology, 2015 - thelancet.com
Autism spectrum disorder is typical of the majority of neuropsychiatric syndromes in that it is
defined by signs and symptoms, rather than by aetiology. Not surprisingly, the causes of this …
defined by signs and symptoms, rather than by aetiology. Not surprisingly, the causes of this …
An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder
Genomic association studies of common or rare protein-coding variation have established
robust statistical approaches to account for multiple testing. Here we present a comparable …
robust statistical approaches to account for multiple testing. Here we present a comparable …