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 …

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 …

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 …

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 …

Genetic variants associated with longitudinal changes in brain structure across the lifespan

RM Brouwer, M Klein, KL Grasby, HG Schnack… - Nature …, 2022 - nature.com
Human brain structure changes throughout the lifespan. Altered brain growth or rates of
decline are implicated in a vast range of psychiatric, developmental and neurodegenerative …

[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 …

An atlas of the protein-coding genes in the human, pig, and mouse brain

E Sjöstedt, W Zhong, L Fagerberg, M Karlsson… - Science, 2020 - science.org
INTRODUCTION The brain is the most complex organ of the mammalian body, boasting a
diverse physiology combined with intricate cellular organization. In an effort to expand our …

A reference map of the human binary protein interactome

K Luck, DK Kim, L Lambourne, K Spirohn, BE Begg… - Nature, 2020 - nature.com
Global insights into cellular organization and genome function require comprehensive
understanding of the interactome networks that mediate genotype–phenotype relationships …

Human TKTL1 implies greater neurogenesis in frontal neocortex of modern humans than Neanderthals

A Pinson, L Xing, T Namba, N Kalebic, J Peters… - Science, 2022 - science.org
Neanderthal brains were similar in size to those of modern humans. We sought to
investigate potential differences in neurogenesis during neocortex development. Modern …