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 …

Spatiotemporal transcriptomic divergence across human and macaque brain development

Y Zhu, AMM Sousa, T Gao, M Skarica, M Li, G Santpere… - Science, 2018 - science.org
INTRODUCTION Improved understanding of how the developing human nervous system
differs from that of closely related nonhuman primates is fundamental for teasing out human …

Shared molecular neuropathology across major psychiatric disorders parallels polygenic overlap

MJ Gandal, JR Haney, NN Parikshak, V Leppa… - Science, 2018 - science.org
The predisposition to neuropsychiatric disease involves a complex, polygenic, and
pleiotropic genetic architecture. However, little is known about how genetic variants impart …

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 …

Single-cell analysis of prenatal and postnatal human cortical development

D Velmeshev, Y Perez, Z Yan, JE Valencia… - Science, 2023 - science.org
We analyzed> 700,000 single-nucleus RNA sequencing profiles from 106 donors during
prenatal and postnatal developmental stages and identified lineage-specific programs that …

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) …

Evolutionary conservation and divergence of the human brain transcriptome

WG Pembroke, CL Hartl, DH Geschwind - Genome biology, 2021 - Springer
Background Mouse models have allowed for the direct interrogation of genetic effects on
molecular, physiological, and behavioral brain phenotypes. However, it is unknown to what …

A comparison of anatomic and cellular transcriptome structures across 40 human brain diseases

Y Zeighami, TE Bakken, T Nickl-Jockschat… - PLoS …, 2023 - journals.plos.org
Genes associated with risk for brain disease exhibit characteristic expression patterns that
reflect both anatomical and cell type relationships. Brain-wide transcriptomic patterns of …

Genetic changes shaping the human brain

BI Bae, D Jayaraman, CA Walsh - Developmental cell, 2015 - cell.com
The development and function of our brain are governed by a genetic blueprint, which
reflects dynamic changes over the history of evolution. Recent progress in genetics and …

Isoform-level transcriptome-wide association uncovers genetic risk mechanisms for neuropsychiatric disorders in the human brain

A Bhattacharya, DD Vo, C Jops, M Kim, C Wen… - Nature Genetics, 2023 - nature.com
Methods integrating genetics with transcriptomic reference panels prioritize risk genes and
mechanisms at only a fraction of trait-associated genetic loci, due in part to an overreliance …