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 …

Developmental mechanisms underlying the evolution of human cortical circuits

P Vanderhaeghen, F Polleux - Nature Reviews Neuroscience, 2023 - nature.com
The brain of modern humans has evolved remarkable computational abilities that enable
higher cognitive functions. These capacities are tightly linked to an increase in the size and …

A genome-wide mutational constraint map quantified from variation in 76,156 human genomes

S Chen, LC Francioli, JK Goodrich, RL Collins, M Kanai… - BioRxiv, 2022 - biorxiv.org
The depletion of disruptive variation caused by purifying natural selection (constraint) has
been widely used to investigate protein-coding genes underlying human disorders, but …

Organoid single-cell genomic atlas uncovers human-specific features of brain development

S Kanton, MJ Boyle, Z He, M Santel, A Weigert… - Nature, 2019 - nature.com
The human brain has undergone substantial change since humans diverged from
chimpanzees and the other great apes,. However, the genetic and developmental programs …

Transcriptome-wide isoform-level dysregulation in ASD, schizophrenia, and bipolar disorder

MJ Gandal, P Zhang, E Hadjimichael, RL Walker… - Science, 2018 - science.org
INTRODUCTION Our understanding of the pathophysiology of psychiatric disorders,
including autism spectrum disorder (ASD), schizophrenia (SCZ), and bipolar disorder (BD) …

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 …

Nurturing care: promoting early childhood development

PR Britto, SJ Lye, K Proulx, AK Yousafzai, SG Matthews… - The lancet, 2017 - thelancet.com
Summary The UN Sustainable Development Goals provide a historic opportunity to
implement interventions, at scale, to promote early childhood development. Although the …

Discovery of 42 genome-wide significant loci associated with dyslexia

C Doust, P Fontanillas, E Eising, SD Gordon, Z Wang… - Nature …, 2022 - nature.com
Reading and writing are crucial life skills but roughly one in ten children are affected by
dyslexia, which can persist into adulthood. Family studies of dyslexia suggest heritability up …

Human-specific NOTCH2NL genes expand cortical neurogenesis through Delta/Notch regulation

IK Suzuki, D Gacquer, R Van Heurck, D Kumar… - Cell, 2018 - cell.com
The cerebral cortex underwent rapid expansion and increased complexity during recent
hominid evolution. Gene duplications constitute a major evolutionary force, but their impact …

Adaptive sequence divergence forged new neurodevelopmental enhancers in humans

RJ Mangan, FC Alsina, F Mosti, JE Sotelo-Fonseca… - Cell, 2022 - cell.com
Searches for the genetic underpinnings of uniquely human traits have focused on human-
specific divergence in conserved genomic regions, which reflects adaptive modifications of …