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 …

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 …

[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 …

Viral manipulation of functionally distinct interneurons in mice, non-human primates and humans

D Vormstein-Schneider, JD Lin, KA Pelkey… - Nature …, 2020 - nature.com
Recent success in identifying gene-regulatory elements in the context of recombinant adeno-
associated virus vectors has enabled cell-type-restricted gene expression. However, within …

Chromatin accessibility dynamics in a model of human forebrain development

AE Trevino, N Sinnott-Armstrong, J Andersen, SJ Yoon… - Science, 2020 - science.org
INTRODUCTION The cerebral cortex is responsible for higher-order functions in the nervous
system and has undergone substantial expansion in size in primates. The development of …

Autism spectrum disorder

C Lord, TS Brugha, T Charman, J Cusack… - Nature reviews Disease …, 2020 - nature.com
Autism spectrum disorder is a construct used to describe individuals with a specific
combination of impairments in social communication and repetitive behaviours, highly …

Genetic evidence of gender difference in autism spectrum disorder supports the female-protective effect

Y Zhang, N Li, C Li, Z Zhang, H Teng, Y Wang… - Translational …, 2020 - nature.com
Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder with a male-to-
female prevalence of 4: 1. However, the genetic mechanisms underlying this gender …

Prenatal origins of ASD: the when, what, and how of ASD development

E Courchesne, VH Gazestani, NE Lewis - Trends in neurosciences, 2020 - cell.com
Autism spectrum disorder (ASD) is a largely heritable, multistage prenatal disorder that
impacts a child's ability to perceive and react to social information. Most ASD risk genes are …

Intrinsic excitation-inhibition imbalance affects medial prefrontal cortex differently in autistic men versus women

S Trakoshis, P Martínez-Cañada, F Rocchi, C Canella… - elife, 2020 - elifesciences.org
Excitation-inhibition (E: I) imbalance is theorized as an important pathophysiological
mechanism in autism. Autism affects males more frequently than females and sex-related …

A multidimensional precision medicine approach identifies an autism subtype characterized by dyslipidemia

Y Luo, A Eran, N Palmer, P Avillach… - Nature medicine, 2020 - nature.com
The promise of precision medicine lies in data diversity. More than the sheer size of
biomedical data, it is the layering of multiple data modalities, offering complementary …