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 …

Development of prefrontal cortex

SM Kolk, P Rakic - Neuropsychopharmacology, 2022 - nature.com
During evolution, the cerebral cortex advances by increasing in surface and the introduction
of new cytoarchitectonic areas among which the prefrontal cortex (PFC) is considered to be …

Rare coding variation provides insight into the genetic architecture and phenotypic context of autism

JM Fu, FK Satterstrom, M Peng, H Brand, RL Collins… - Nature …, 2022 - nature.com
Some individuals with autism spectrum disorder (ASD) carry functional mutations rarely
observed in the general population. We explored the genes disrupted by these variants from …

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 …

A single-cell atlas of the normal and malformed human brain vasculature

EA Winkler, CN Kim, JM Ross, JH Garcia, E Gil, I Oh… - Science, 2022 - science.org
Cerebrovascular diseases are a leading cause of death and neurologic disability. Further
understanding of disease mechanisms and therapeutic strategies requires a deeper …

Spatiotemporal transcriptomic atlas of mouse organogenesis using DNA nanoball-patterned arrays

A Chen, S Liao, M Cheng, K Ma, L Wu, Y Lai, X Qiu… - Cell, 2022 - cell.com
Spatially resolved transcriptomic technologies are promising tools to study complex
biological processes such as mammalian embryogenesis. However, the imbalance between …

[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 …

[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 …

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 …

Molecular architecture of the developing mouse brain

G La Manno, K Siletti, A Furlan, D Gyllborg, E Vinsland… - Nature, 2021 - nature.com
The mammalian brain develops through a complex interplay of spatial cues generated by
diffusible morphogens, cell–cell interactions and intrinsic genetic programs that result in …