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 …

New insights into the development of the human cerebral cortex

Z Molnár, GJ Clowry, N Šestan, A Alzu'bi… - Journal of …, 2019 - Wiley Online Library
The cerebral cortex constitutes more than half the volume of the human brain and is
presumed to be responsible for the neuronal computations underlying complex phenomena …

Multivariate analysis of 1.5 million people identifies genetic associations with traits related to self-regulation and addiction

R Karlsson Linnér, TT Mallard, PB Barr… - Nature …, 2021 - nature.com
Behaviors and disorders related to self-regulation, such as substance use, antisocial
behavior and attention-deficit/hyperactivity disorder, are collectively referred to as …

[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 …

Identification of common genetic risk variants for autism spectrum disorder

J Grove, S Ripke, TD Als, M Mattheisen, RK Walters… - Nature …, 2019 - nature.com
Autism spectrum disorder (ASD) is a highly heritable and heterogeneous group of
neurodevelopmental phenotypes diagnosed in more than 1% of children. Common genetic …

Neuronal DNA double-strand breaks lead to genome structural variations and 3D genome disruption in neurodegeneration

V Dileep, CA Boix, H Mathys, A Marco, GM Welch… - Cell, 2023 - cell.com
Persistent DNA double-strand breaks (DSBs) in neurons are an early pathological hallmark
of neurodegenerative diseases including Alzheimer's disease (AD), with the potential to …

Genomic relationships, novel loci, and pleiotropic mechanisms across eight psychiatric disorders

PH Lee, V Anttila, H Won, YCA Feng, J Rosenthal… - Cell, 2019 - cell.com
Genetic influences on psychiatric disorders transcend diagnostic boundaries, suggesting
substantial pleiotropy of contributing loci. However, the nature and mechanisms of these …

Integrative functional genomic analysis of human brain development and neuropsychiatric risks

M Li, G Santpere, Y Imamura Kawasawa, OV Evgrafov… - Science, 2018 - science.org
INTRODUCTION The brain is responsible for cognition, behavior, and much of what makes
us uniquely human. The development of the brain is a highly complex process, and this …

Comprehensive functional genomic resource and integrative model for the human brain

D Wang, S Liu, J Warrell, H Won, X Shi, FCP Navarro… - Science, 2018 - science.org
INTRODUCTION Strong genetic associations have been found for a number of psychiatric
disorders. However, understanding the underlying molecular mechanisms remains …

[HTML][HTML] Multiscale 3D genome rewiring during mouse neural development

B Bonev, NM Cohen, Q Szabo, L Fritsch… - Cell, 2017 - cell.com
Chromosome conformation capture technologies have revealed important insights into
genome folding. Yet, how spatial genome architecture is related to gene expression and cell …