Genetic insights into human cortical organization and development through genome-wide analyses of 2,347 neuroimaging phenotypes
Our understanding of the genetics of the human cerebral cortex is limited both in terms of the
diversity and the anatomical granularity of brain structural phenotypes. Here we conducted a …
diversity and the anatomical granularity of brain structural phenotypes. Here we conducted a …
Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders
Most genetic studies consider autism spectrum disorder (ASD) and developmental disorder
(DD) separately despite overwhelming comorbidity and shared genetic etiology. Here, we …
(DD) separately despite overwhelming comorbidity and shared genetic etiology. Here, we …
Multi-omic profiling of the developing human cerebral cortex at the single-cell level
The cellular complexity of the human brain is established via dynamic changes in gene
expression throughout development that is mediated, in part, by the spatiotemporal activity …
expression throughout development that is mediated, in part, by the spatiotemporal activity …
A single-cell genomic atlas for maturation of the human cerebellum during early childhood
Inflammation early in life is a clinically established risk factor for autism spectrum disorders
and schizophrenia, yet the impact of inflammation on human brain development is poorly …
and schizophrenia, yet the impact of inflammation on human brain development is poorly …
Cross-ancestry atlas of gene, isoform, and splicing regulation in the developing human brain
Neuropsychiatric genome-wide association studies (GWASs), including those for autism
spectrum disorder and schizophrenia, show strong enrichment for regulatory elements in the …
spectrum disorder and schizophrenia, show strong enrichment for regulatory elements in the …
[HTML][HTML] Decoding the genetic landscape of autism: A comprehensive review
M Al-Beltagi, NK Saeed, AS Bediwy… - World Journal of …, 2024 - pmc.ncbi.nlm.nih.gov
BACKGROUND Autism spectrum disorder (ASD) is a complex neurodevelopmental
condition characterized by heterogeneous symptoms and genetic underpinnings. Recent …
condition characterized by heterogeneous symptoms and genetic underpinnings. Recent …
Transcriptional and functional consequences of alterations to MEF2C and its topological organization in neuronal models
Point mutations and structural variants that directly disrupt the coding sequence of MEF2C
have been associated with a spectrum of neurodevelopmental disorders (NDDs). However …
have been associated with a spectrum of neurodevelopmental disorders (NDDs). However …
Developmental isoform diversity in the human neocortex informs neuropsychiatric risk mechanisms
RNA splicing is highly prevalent in the brain and has strong links to neuropsychiatric
disorders; yet, the role of cell type–specific splicing and transcript-isoform diversity during …
disorders; yet, the role of cell type–specific splicing and transcript-isoform diversity during …
[HTML][HTML] Cross-ancestry, cell-type-informed atlas of gene, isoform, and splicing regulation in the developing human brain
Genomic regulatory elements active in the developing human brain are notably enriched in
genetic risk for neuropsychiatric disorders, including autism spectrum disorder (ASD) …
genetic risk for neuropsychiatric disorders, including autism spectrum disorder (ASD) …
[HTML][HTML] A massively parallel screen of 5′ UTR mutations identifies variants impacting translation and protein production in neurodevelopmental disorder genes
De novo mutations cause a variety of neurodevelopmental disorders including autism.
Recent whole genome sequencing from individuals with autism has shown that many de …
Recent whole genome sequencing from individuals with autism has shown that many de …