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 …

[PDF][PDF] 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 …

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] 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 developing brain …

[PDF][PDF] The human and mouse enteric nervous system at single-cell resolution

E Drokhlyansky, CS Smillie, N Van Wittenberghe… - Cell, 2020 - cell.com
The enteric nervous system (ENS) coordinates diverse functions in the intestine but has
eluded comprehensive molecular characterization because of the rarity and diversity of …

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 …

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 …

[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 - Elsevier
Genetic perturbations of cortical development can lead to neurodevelopmental disease,
including autism spectrum disorder (ASD). To identify genomic regions crucial to …

Single-cell epigenomic analyses implicate candidate causal variants at inherited risk loci for Alzheimer's and Parkinson's diseases

MR Corces, A Shcherbina, S Kundu, MJ Gloudemans… - Nature …, 2020 - nature.com
Genome-wide association studies of neurological diseases have identified thousands of
variants associated with disease phenotypes. However, most of these variants do not alter …

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 …