Autism spectrum disorder genetics and the search for pathological mechanisms
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 …
spectrum disorder (ASD) has had a broad impact on our understanding of the nature of …
Comparison of SHANK3 deficiency in animal models: phenotypes, treatment strategies, and translational implications
JP Delling, TM Boeckers - Journal of Neurodevelopmental Disorders, 2021 - Springer
Background Autism spectrum disorder (ASD) is a neurodevelopmental condition, which is
characterized by clinical heterogeneity and high heritability. Core symptoms of ASD include …
characterized by clinical heterogeneity and high heritability. Core symptoms of ASD include …
Long-term maturation of human cortical organoids matches key early postnatal transitions
Human stem-cell-derived models provide the promise of accelerating our understanding of
brain disorders, but not knowing whether they possess the ability to mature beyond mid-to …
brain disorders, but not knowing whether they possess the ability to mature beyond mid-to …
[HTML][HTML] Chromatin and gene-regulatory dynamics of the developing human cerebral cortex at single-cell resolution
Genetic perturbations of cortical development can lead to neurodevelopmental disease,
including autism spectrum disorder (ASD). To identify genomic regions crucial to …
including autism spectrum disorder (ASD). To identify genomic regions crucial to …
Single cell regulatory landscape of the mouse kidney highlights cellular differentiation programs and disease targets
Determining the epigenetic program that generates unique cell types in the kidney is critical
for understanding cell-type heterogeneity during tissue homeostasis and injury response …
for understanding cell-type heterogeneity during tissue homeostasis and injury response …
Parallel in vivo analysis of large-effect autism genes implicates cortical neurogenesis and estrogen in risk and resilience
Gene Ontology analyses of autism spectrum disorders (ASD) risk genes have repeatedly
highlighted synaptic function and transcriptional regulation as key points of convergence …
highlighted synaptic function and transcriptional regulation as key points of convergence …
MEF2 is a key regulator of cognitive potential and confers resilience to neurodegeneration
SJ Barker, RM Raju, NEP Milman, J Wang… - Science translational …, 2021 - science.org
Recent increases in human longevity have been accompanied by a rise in the incidence of
dementia, highlighting the need to preserve cognitive function in an aging population. A …
dementia, highlighting the need to preserve cognitive function in an aging population. A …
[HTML][HTML] 3D Genome of macaque fetal brain reveals evolutionary innovations during primate corticogenesis
Elucidating the regulatory mechanisms of human brain evolution is essential to
understanding human cognition and mental disorders. We generated multi-omics profiles …
understanding human cognition and mental disorders. We generated multi-omics profiles …
Coexpression network architecture reveals the brain-wide and multiregional basis of disease susceptibility
Gene networks have yielded numerous neurobiological insights, yet an integrated view
across brain regions is lacking. We leverage RNA sequencing in 864 samples representing …
across brain regions is lacking. We leverage RNA sequencing in 864 samples representing …
Cortical organoids model early brain development disrupted by 16p11. 2 copy number variants in autism
Reciprocal deletion and duplication of the 16p11. 2 region is the most common copy number
variation (CNV) associated with autism spectrum disorders. We generated cortical organoids …
variation (CNV) associated with autism spectrum disorders. We generated cortical organoids …