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 …

[HTML][HTML] A transcription factor atlas of directed differentiation

J Joung, S Ma, T Tay, KR Geiger-Schuller… - Cell, 2023 - cell.com
Transcription factors (TFs) regulate gene programs, thereby controlling diverse cellular
processes and cell states. To comprehensively understand TFs and the programs they …

[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 …

Proper acquisition of cell class identity in organoids allows definition of fate specification programs of the human cerebral cortex

A Uzquiano, AJ Kedaigle, M Pigoni, B Paulsen… - Cell, 2022 - cell.com
Realizing the full utility of brain organoids to study human development requires
understanding whether organoids precisely replicate endogenous cellular and molecular …

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 …

Inferring and perturbing cell fate regulomes in human brain organoids

JS Fleck, SMJ Jansen, D Wollny, F Zenk, M Seimiya… - Nature, 2023 - nature.com
Self-organizing neural organoids grown from pluripotent stem cells,–combined with single-
cell genomic technologies provide opportunities to examine gene regulatory networks …

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 …

[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 …