Genomics, convergent neuroscience and progress in understanding autism spectrum disorder

HR Willsey, AJ Willsey, B Wang… - Nature Reviews …, 2022‏ - nature.com
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 …

Human brain organogenesis: Toward a cellular understanding of development and disease

KW Kelley, SP Pașca - Cell, 2022‏ - cell.com
The construction of the human nervous system is a distinctly complex although highly
regulated process. Human tissue inaccessibility has impeded a molecular understanding of …

[HTML][HTML] Brain charts for the human lifespan

RAI Bethlehem, J Seidlitz, SR White, JW Vogel… - Nature, 2022‏ - nature.com
Over the past few decades, neuroimaging has become a ubiquitous tool in basic research
and clinical studies of the human brain. However, no reference standards currently exist to …

Cell-type-specific cis-eQTLs in eight human brain cell types identify novel risk genes for psychiatric and neurological disorders

J Bryois, D Calini, W Macnair, L Foo, E Urich… - Nature …, 2022‏ - nature.com
To date, most expression quantitative trait loci (eQTL) studies, which investigate how genetic
variants contribute to gene expression, have been performed in heterogeneous brain …

Signalling pathways in autism spectrum disorder: mechanisms and therapeutic implications

CC Jiang, LS Lin, S Long, XY Ke, K Fukunaga… - Signal transduction and …, 2022‏ - nature.com
Autism spectrum disorder (ASD) is a prevalent and complex neurodevelopmental disorder
which has strong genetic basis. Despite the rapidly rising incidence of autism, little is known …

Molecular and cellular evolution of the primate dorsolateral prefrontal cortex

S Ma, M Skarica, Q Li, C Xu, RD Risgaard… - Science, 2022‏ - science.org
The granular dorsolateral prefrontal cortex (dlPFC) is an evolutionary specialization of
primates that is centrally involved in cognition. We assessed more than 600,000 single …

De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome

Y Chen, R Dawes, HC Kim, A Ljungdahl, SL Stenton… - Nature, 2024‏ - nature.com
Around 60% of individuals with neurodevelopmental disorders (NDD) remain undiagnosed
after comprehensive genetic testing, primarily of protein-coding genes. Large genome …

Map** gene transcription and neurocognition across human neocortex

JY Hansen, RD Markello, JW Vogel, J Seidlitz… - Nature Human …, 2021‏ - nature.com
Regulation of gene expression drives protein interactions that govern synaptic wiring and
neuronal activity. The resulting coordinated activity among neuronal populations supports …

Autism spectrum disorder genetics and the search for pathological mechanisms

DS Manoli, MW State - American Journal of Psychiatry, 2021‏ - Am Psychiatric Assoc
Recent progress in the identification of genes and genomic regions contributing to autism
spectrum disorder (ASD) has had a broad impact on our understanding of the nature of …

Brain-based sex differences in autism spectrum disorder across the lifespan: A systematic review of structural MRI, fMRI, and DTI findings

MJM Walsh, GL Wallace, SM Gallegos, BB Braden - NeuroImage: Clinical, 2021‏ - Elsevier
Females with autism spectrum disorder (ASD) have been long overlooked in neuroscience
research, but emerging evidence suggests they show distinct phenotypic trajectories and …