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) …

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 …

[HTML][HTML] Transcriptomic insight into the polygenic mechanisms underlying psychiatric disorders

LM Hernandez, M Kim, GD Hoftman, JR Haney… - Biological …, 2021 - Elsevier
Over the past decade, large-scale genetic studies have successfully identified hundreds of
genetic variants robustly associated with risk for psychiatric disorders. However, mechanistic …

Single-cell multi-cohort dissection of the schizophrenia transcriptome

WB Ruzicka, S Mohammadi, JF Fullard… - Science, 2024 - science.org
The complexity and heterogeneity of schizophrenia have hindered mechanistic elucidation
and the development of more effective therapies. Here, we performed single-cell dissection …

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 …

BrainSeq: neurogenomics to drive novel target discovery for neuropsychiatric disorders

CR Schubert, P O'Donnell, J Quan, JR Wendland… - Neuron, 2015 - cell.com
We outline an ambitious project to characterize the genetic and epigenetic regulation of
multiple facets of transcription in distinct brain regions across the human lifespan in samples …

Genomic insights into the overlap between psychiatric disorders: implications for research and clinical practice

JL Doherty, MJ Owen - Genome medicine, 2014 - Springer
Psychiatric disorders such as schizophrenia, bipolar disorder, major depressive disorder,
attention-deficit/hyperactivity disorder and autism spectrum disorder are common and result …

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 …

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 …

Allele-specific open chromatin in human iPSC neurons elucidates functional disease variants

S Zhang, H Zhang, Y Zhou, M Qiao, S Zhao, A Kozlova… - Science, 2020 - science.org
Most neuropsychiatric disease risk variants are in noncoding sequences and lack functional
interpretation. Because regulatory sequences often reside in open chromatin, we reasoned …