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 …
Candidate biomarkers in psychiatric disorders: state of the field
The field of psychiatry is hampered by a lack of robust, reliable and valid biomarkers that can
aid in objectively diagnosing patients and providing individualized treatment …
aid in objectively diagnosing patients and providing individualized treatment …
Autism genes converge on asynchronous development of shared neuron classes
B Paulsen, S Velasco, AJ Kedaigle, M Pigoni… - Nature, 2022 - nature.com
Genetic risk for autism spectrum disorder (ASD) is associated with hundreds of genes
spanning a wide range of biological functions,,,,–. The alterations in the human brain …
spanning a wide range of biological functions,,,,–. The alterations in the human brain …
Polygenic architecture of rare coding variation across 394,783 exomes
Both common and rare genetic variants influence complex traits and common diseases.
Genome-wide association studies have identified thousands of common-variant …
Genome-wide association studies have identified thousands of common-variant …
Landscape of mSWI/SNF chromatin remodeling complex perturbations in neurodevelopmental disorders
AM Valencia, A Sankar, PJ van der Sluijs… - Nature Genetics, 2023 - nature.com
DNA sequencing-based studies of neurodevelopmental disorders (NDDs) have identified a
wide range of genetic determinants. However, a comprehensive analysis of these data, in …
wide range of genetic determinants. However, a comprehensive analysis of these data, in …
New and emerging approaches to treat psychiatric disorders
Psychiatric disorders are highly prevalent, often devastating diseases that negatively impact
the lives of millions of people worldwide. Although their etiological and diagnostic …
the lives of millions of people worldwide. Although their etiological and diagnostic …
Graph-based genome alignment and genotyping with HISAT2 and HISAT-genotype
The human reference genome represents only a small number of individuals, which limits its
usefulness for genotyping. We present a method named HISAT2 (hierarchical indexing for …
usefulness for genotyping. We present a method named HISAT2 (hierarchical indexing for …
Changes in access to educational and healthcare services for individuals with intellectual and developmental disabilities during COVID19 restrictions
Background COVID19 restrictions have significantly limited access to inperson
educational and healthcare services for all, including individuals with intellectual and …
educational and healthcare services for all, including individuals with intellectual and …
The landscape of tolerated genetic variation in humans and primates
H Gao, T Hamp, J Ede, JG Schraiber, J McRae… - Science, 2023 - science.org
Personalized genome sequencing has revealed millions of genetic differences between
individuals, but our understanding of their clinical relevance remains largely incomplete. To …
individuals, but our understanding of their clinical relevance remains largely incomplete. To …
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 …