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 …

[HTML][HTML] Neurodevelopmental disorders: from genetics to functional pathways

I Parenti, LG Rabaneda, H Schoen, G Novarino - Trends in Neurosciences, 2020 - cell.com
Neurodevelopmental disorders (NDDs) are a class of disorders affecting brain development
and function and are characterized by wide genetic and clinical variability. In this review, we …

[HTML][HTML] Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes

X Zhou, P Feliciano, C Shu, T Wang, I Astrovskaya… - Nature …, 2022 - nature.com
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 …

Long-term maturation of human cortical organoids matches key early postnatal transitions

A Gordon, SJ Yoon, SS Tran, CD Makinson… - Nature …, 2021 - nature.com
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 …

[HTML][HTML] Chromatin and gene-regulatory dynamics of the developing human cerebral cortex at single-cell resolution

AE Trevino, F Müller, J Andersen, L Sundaram… - Cell, 2021 - cell.com
Genetic perturbations of cortical development can lead to neurodevelopmental disease,
including autism spectrum disorder (ASD). To identify genomic regions crucial to …

Modeling idiopathic autism in forebrain organoids reveals an imbalance of excitatory cortical neuron subtypes during early neurogenesis

A Jourdon, F Wu, J Mariani, D Capauto, S Norton… - Nature …, 2023 - nature.com
Idiopathic autism spectrum disorder (ASD) is highly heterogeneous, and it remains unclear
how convergent biological processes in affected individuals may give rise to symptoms …

Molecular and network-level mechanisms explaining individual differences in autism spectrum disorder

AM Buch, PE Vértes, J Seidlitz, SH Kim… - Nature …, 2023 - nature.com
The mechanisms underlying phenotypic heterogeneity in autism spectrum disorder (ASD)
are not well understood. Using a large neuroimaging dataset, we identified three latent …

Brain organoids for the study of human neurobiology at the interface of in vitro and in vivo

I Chiaradia, MA Lancaster - Nature Neuroscience, 2020 - nature.com
Brain development is an extraordinarily complex process achieved through the spatially and
temporally regulated release of key patterning factors. In vitro neurodevelopmental models …

Identification of common genetic risk variants for autism spectrum disorder

J Grove, S Ripke, TD Als, M Mattheisen, RK Walters… - Nature …, 2019 - nature.com
Autism spectrum disorder (ASD) is a highly heritable and heterogeneous group of
neurodevelopmental phenotypes diagnosed in more than 1% of children. Common genetic …

[HTML][HTML] Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism

FK Satterstrom, JA Kosmicki, J Wang, MS Breen… - Cell, 2020 - cell.com
We present the largest exome sequencing study of autism spectrum disorder (ASD) to date
(n= 35,584 total samples, 11,986 with ASD). Using an enhanced analytical framework to …