Psychiatric genetics and the structure of psychopathology

JW Smoller, OA Andreassen, HJ Edenberg… - Molecular …, 2019 - nature.com
For over a century, psychiatric disorders have been defined by expert opinion and clinical
observation. The modern DSM has relied on a consensus of experts to define categorical …

The genetic basis of major depression

KM Kendall, E Van Assche, TFM Andlauer… - Psychological …, 2021 - cambridge.org
Major depressive disorder (MDD) is a common, debilitating, phenotypically heterogeneous
disorder with heritability ranges from 30% to 50%. Compared to other psychiatric disorders …

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) …

[PDF][PDF] Genomic dissection of bipolar disorder and schizophrenia, including 28 subphenotypes

DM Ruderfer, S Ripke, A McQuillin, J Boocock… - Cell, 2018 - cell.com
Schizophrenia and bipolar disorder are two distinct diagnoses that share symptomology.
Understanding the genetic factors contributing to the shared and disorder-specific symptoms …

[HTML][HTML] Human-specific NOTCH2NL genes affect notch signaling and cortical neurogenesis

IT Fiddes, GA Lodewijk, M Mooring, CM Bosworth… - Cell, 2018 - cell.com
Genetic changes causing brain size expansion in human evolution have remained elusive.
Notch signaling is essential for radial glia stem cell proliferation and is a determinant of …

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 …

A polygenic burden of rare disruptive mutations in schizophrenia

SM Purcell, JL Moran, M Fromer, D Ruderfer… - Nature, 2014 - nature.com
Schizophrenia is a common disease with a complex aetiology, probably involving multiple
and heterogeneous genetic factors. Here, by analysing the exome sequences of 2,536 …

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 …

Research review: polygenic methods and their application to psychiatric traits

NR Wray, SH Lee, D Mehta… - Journal of child …, 2014 - Wiley Online Library
Background Despite evidence from twin and family studies for an important contribution of
genetic factors to both childhood and adult onset psychiatric disorders, identifying robustly …