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 …

Human brain organogenesis: Toward a cellular understanding of development and disease

KW Kelley, SP Pașca - Cell, 2022 - cell.com
The construction of the human nervous system is a distinctly complex although highly
regulated process. Human tissue inaccessibility has impeded a molecular understanding of …

Rare coding variants in ten genes confer substantial risk for schizophrenia

T Singh, T Poterba, D Curtis, H Akil, M Al Eissa… - Nature, 2022 - nature.com
Rare coding variation has historically provided the most direct connections between gene
function and disease pathogenesis. By meta-analysing the whole exomes of 24,248 …

[HTML][HTML] Brain charts for the human lifespan

RAI Bethlehem, J Seidlitz, SR White, JW Vogel… - Nature, 2022 - nature.com
Over the past few decades, neuroimaging has become a ubiquitous tool in basic research
and clinical studies of the human brain. However, no reference standards currently exist to …

The contributions of rare inherited and polygenic risk to ASD in multiplex families

M Cirnigliaro, TS Chang, SA Arteaga… - Proceedings of the …, 2023 - National Acad Sciences
Autism spectrum disorder (ASD) has a complex genetic architecture involving contributions
from both de novo and inherited variation. Few studies have been designed to address the …

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 …

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 …

Genetic variants associated with longitudinal changes in brain structure across the lifespan

RM Brouwer, M Klein, KL Grasby, HG Schnack… - Nature …, 2022 - nature.com
Human brain structure changes throughout the lifespan. Altered brain growth or rates of
decline are implicated in a vast range of psychiatric, developmental and neurodegenerative …

Generation of human striatal organoids and cortico-striatal assembloids from human pluripotent stem cells

Y Miura, MY Li, F Birey, K Ikeda, O Revah… - Nature …, 2020 - nature.com
Cortico-striatal projections are critical components of forebrain circuitry that regulate
motivated behaviors. To enable the study of the human cortico-striatal pathway and how its …

[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 …