Genomics, convergent neuroscience and progress in understanding autism spectrum disorder
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 …
autism spectrum disorder (ASD). Current knowledge about the encoded proteins—although …
Human brain organogenesis: Toward a cellular understanding of development and disease
The construction of the human nervous system is a distinctly complex although highly
regulated process. Human tissue inaccessibility has impeded a molecular understanding of …
regulated process. Human tissue inaccessibility has impeded a molecular understanding of …
Rare coding variants in ten genes confer substantial risk for schizophrenia
Rare coding variation has historically provided the most direct connections between gene
function and disease pathogenesis. By meta-analysing the whole exomes of 24,248 …
function and disease pathogenesis. By meta-analysing the whole exomes of 24,248 …
[HTML][HTML] Brain charts for the human lifespan
Over the past few decades, neuroimaging has become a ubiquitous tool in basic research
and clinical studies of the human brain. However, no reference standards currently exist to …
and clinical studies of the human brain. However, no reference standards currently exist to …
The contributions of rare inherited and polygenic risk to ASD in multiplex families
M Cirnigliaro, TS Chang, SA Arteaga… - Proceedings of the …, 2023 - National Acad Sciences
Autism spectrum disorder (ASD) has a complex genetic architecture involving contributions
from both de novo and inherited variation. Few studies have been designed to address the …
from both de novo and inherited variation. Few studies have been designed to address the …
Standardizing workflows in imaging transcriptomics with the abagen toolbox
Gene expression fundamentally shapes the structural and functional architecture of the
human brain. Open-access transcriptomic datasets like the Allen Human Brain Atlas provide …
human brain. Open-access transcriptomic datasets like the Allen Human Brain Atlas provide …
Long-term maturation of human cortical organoids matches key early postnatal transitions
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 …
brain disorders, but not knowing whether they possess the ability to mature beyond mid-to …
Genetic variants associated with longitudinal changes in brain structure across the lifespan
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 …
decline are implicated in a vast range of psychiatric, developmental and neurodegenerative …
Generation of human striatal organoids and cortico-striatal assembloids from human pluripotent stem cells
Cortico-striatal projections are critical components of forebrain circuitry that regulate
motivated behaviors. To enable the study of the human cortico-striatal pathway and how its …
motivated behaviors. To enable the study of the human cortico-striatal pathway and how its …
[HTML][HTML] Chromatin and gene-regulatory dynamics of the developing human cerebral cortex at single-cell resolution
Genetic perturbations of cortical development can lead to neurodevelopmental disease,
including autism spectrum disorder (ASD). To identify genomic regions crucial to …
including autism spectrum disorder (ASD). To identify genomic regions crucial to …