The genetics of bipolar disorder

FJA Gordovez, FJ McMahon - Molecular psychiatry, 2020 - nature.com
Bipolar disorder (BD) is one of the most heritable mental illnesses, but the elucidation of its
genetic basis has proven to be a very challenging endeavor. Genome-Wide Association …

Autism genetics: opportunities and challenges for clinical translation

JAS Vorstman, JR Parr, D Moreno-De-Luca… - Nature Reviews …, 2017 - nature.com
Genetic studies have revealed the involvement of hundreds of gene variants in autism. Their
risk effects are highly variable, and they are frequently related to other conditions besides …

Mapping and characterization of structural variation in 17,795 human genomes

HJ Abel, DE Larson, AA Regier, C Chiang, I Das… - Nature, 2020 - nature.com
A key goal of whole-genome sequencing for studies of human genetics is to interrogate all
forms of variation, including single-nucleotide variants, small insertion or deletion (indel) …

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 …

Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects

CR Marshall, DP Howrigan, D Merico… - Nature …, 2017 - nature.com
Copy number variants (CNVs) have been strongly implicated in the genetic etiology of
schizophrenia (SCZ). However, genome-wide investigation of the contribution of CNV to risk …

GWAS of lifetime cannabis use reveals new risk loci, genetic overlap with psychiatric traits, and a causal effect of schizophrenia liability

JA Pasman, KJH Verweij, Z Gerring, S Stringer… - Nature …, 2018 - nature.com
Cannabis use is a heritable trait that has been associated with adverse mental health
outcomes. In the largest genome-wide association study (GWAS) for lifetime cannabis use to …

Integration of summary data from GWAS and eQTL studies predicts complex trait gene targets

Z Zhu, F Zhang, H Hu, A Bakshi, MR Robinson… - Nature …, 2016 - nature.com
Genome-wide association studies (GWAS) have identified thousands of genetic variants
associated with human complex traits. However, the genes or functional DNA elements …

Transcriptome-wide association study of schizophrenia and chromatin activity yields mechanistic disease insights

A Gusev, N Mancuso, H Won, M Kousi, HK Finucane… - Nature …, 2018 - nature.com
Genome-wide association studies (GWAS) have identified over 100 risk loci for
schizophrenia, but the causal mechanisms remain largely unknown. We performed a …

Gene expression elucidates functional impact of polygenic risk for schizophrenia

M Fromer, P Roussos, SK Sieberts, JS Johnson… - Nature …, 2016 - nature.com
Over 100 genetic loci harbor schizophrenia-associated variants, yet how these variants
confer liability is uncertain. The CommonMind Consortium sequenced RNA from …

Genetics and genomics of psychiatric disease

DH Geschwind, J Flint - Science, 2015 - science.org
Large-scale genomic investigations have just begun to illuminate the molecular genetic
contributions to major psychiatric illnesses, ranging from small-effect-size common variants …