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 …
Human brain organogenesis: Toward a cellular understanding of development and disease
The construction of the human nervous system is a distinctly complex although highly
regulated process. Human tissue inaccessibility has impeded a molecular understanding of …
regulated process. Human tissue inaccessibility has impeded a molecular understanding of …
Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes
To capture the full spectrum of genetic risk for autism, we performed a two-stage analysis of
rare de novo and inherited coding variants in 42,607 autism cases, including 35,130 new …
rare de novo and inherited coding variants in 42,607 autism cases, including 35,130 new …
Impaired neurogenesis alters brain biomechanics in a neuroprogenitor-based genetic subtype of congenital hydrocephalus
Hydrocephalus, characterized by cerebral ventricular dilatation, is routinely attributed to
primary defects in cerebrospinal fluid (CSF) homeostasis. This fosters CSF shunting as the …
primary defects in cerebrospinal fluid (CSF) homeostasis. This fosters CSF shunting as the …
Modeling gene× environment interactions in PTSD using human neurons reveals diagnosis-specific glucocorticoid-induced gene expression
Post-traumatic stress disorder (PTSD) can develop following severe trauma, but the extent to
which genetic and environmental risk factors contribute to individual clinical outcomes is …
which genetic and environmental risk factors contribute to individual clinical outcomes is …
From cohorts to molecules: Adverse impacts of endocrine disrupting mixtures
Convergent evidence associates exposure to endocrine disrupting chemicals (EDCs) with
major human diseases, even at regulation-compliant concentrations. This might be because …
major human diseases, even at regulation-compliant concentrations. This might be because …
Broad transcriptomic dysregulation occurs across the cerebral cortex in ASD
Neuropsychiatric disorders classically lack defining brain pathologies, but recent work has
demonstrated dysregulation at the molecular level, characterized by transcriptomic and …
demonstrated dysregulation at the molecular level, characterized by transcriptomic and …
[HTML][HTML] CHD8 haploinsufficiency links autism to transient alterations in excitatory and inhibitory trajectories
CE Villa, C Cheroni, CP Dotter, A López-Tóbon… - Cell Reports, 2022 - cell.com
Mutations in the chromodomain helicase DNA-binding 8 (CHD8) gene are a frequent cause
of autism spectrum disorder (ASD). While its phenotypic spectrum often encompasses …
of autism spectrum disorder (ASD). While its phenotypic spectrum often encompasses …
Challenges and opportunities for precision medicine in neurodevelopmental disorders
GT Chen, DH Geschwind - Advanced drug delivery reviews, 2022 - Elsevier
Abstract Neurodevelopmental Disorders (NDDs) encompass a broad spectrum of disorders,
linked because of their origins in brain developmental processes, including diverse …
linked because of their origins in brain developmental processes, including diverse …
Globally elevated excitation–inhibition ratio in children with autism spectrum disorder and below-average intelligence
VO Manyukhina, AO Prokofyev, IA Galuta, DE Goiaeva… - Molecular autism, 2022 - Springer
Background Altered neuronal excitation–inhibition (E–I) balance is strongly implicated in
ASD. However, it is not known whether the direction and degree of changes in the E–I ratio …
ASD. However, it is not known whether the direction and degree of changes in the E–I ratio …