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 …

Developmental mechanisms underlying the evolution of human cortical circuits

P Vanderhaeghen, F Polleux - Nature Reviews Neuroscience, 2023 - nature.com
The brain of modern humans has evolved remarkable computational abilities that enable
higher cognitive functions. These capacities are tightly linked to an increase in the size and …

Maturation and circuit integration of transplanted human cortical organoids

O Revah, F Gore, KW Kelley, J Andersen, N Sakai… - Nature, 2022 - nature.com
Self-organizing neural organoids represent a promising in vitro platform with which to model
human development and disease,,,–. However, organoids lack the connectivity that exists in …

[HTML][HTML] Early Alzheimer's disease pathology in human cortex involves transient cell states

V Gazestani, T Kamath, NM Nadaf, A Dougalis… - Cell, 2023 - cell.com
Cellular perturbations underlying Alzheimer's disease (AD) are primarily studied in human
postmortem samples and model organisms. Here, we generated a single-nucleus atlas from …

[HTML][HTML] Human prefrontal cortex gene regulatory dynamics from gestation to adulthood at single-cell resolution

CA Herring, RK Simmons, S Freytag, D Poppe… - Cell, 2022 - cell.com
Human brain development is underpinned by cellular and molecular reconfigurations
continuing into the third decade of life. To reveal cell dynamics orchestrating neural …

Standardizing workflows in imaging transcriptomics with the abagen toolbox

RD Markello, A Arnatkeviciute, JB Poline, BD Fulcher… - elife, 2021 - elifesciences.org
Gene expression fundamentally shapes the structural and functional architecture of the
human brain. Open-access transcriptomic datasets like the Allen Human Brain Atlas provide …

Assembloid CRISPR screens reveal impact of disease genes in human neurodevelopment

X Meng, D Yao, K Imaizumi, X Chen, KW Kelley, N Reis… - Nature, 2023 - nature.com
The assembly of cortical circuits involves the generation and migration of interneurons from
the ventral to the dorsal forebrain,–, which has been challenging to study at inaccessible …

A single-cell transcriptome atlas profiles early organogenesis in human embryos

Y Xu, T Zhang, Q Zhou, M Hu, Y Qi, Y Xue, Y Nie… - Nature cell …, 2023 - nature.com
The early window of human embryogenesis is largely a black box for developmental
biologists. Here we probed the cellular diversity of 4–6 week human embryos when …

Shared mechanisms across the major psychiatric and neurodegenerative diseases

TS Wingo, Y Liu, ES Gerasimov, SM Vattathil… - Nature …, 2022 - nature.com
Several common psychiatric and neurodegenerative diseases share epidemiologic risk;
however, whether they share pathophysiology is unclear and is the focus of our …

[HTML][HTML] Single-cell epigenomics reveals mechanisms of human cortical development

RS Ziffra, CN Kim, JM Ross, A Wilfert, TN Turner… - Nature, 2021 - nature.com
During mammalian development, differences in chromatin state coincide with cellular
differentiation and reflect changes in the gene regulatory landscape. In the develo** brain …