The contribution of copy number variants to psychiatric symptoms and cognitive ability

J Mollon, L Almasy, S Jacquemont, DC Glahn - Molecular psychiatry, 2023 - nature.com
Copy number variants (CNVs) are deletions and duplications of DNA sequence. The most
frequently studied CNVs, which are described in this review, are recurrent CNVs that occur …

Cross disorder comparisons of brain structure in schizophrenia, bipolar disorder, major depressive disorder, and 22q11. 2 deletion syndrome: a review of ENIGMA …

EJ Cheon, CE Bearden, D Sun… - Psychiatry and …, 2022 - Wiley Online Library
This review compares the main brain abnormalities in schizophrenia (SZ), bipolar disorder
(BD), major depressive disorder (MDD), and 22q11. 2 Deletion Syndrome (22q11DS) …

A genetics-first approach to understanding autism and schizophrenia spectrum disorders: the 22q11. 2 deletion syndrome

AM Fiksinski, GD Hoftman, JAS Vorstman… - Molecular …, 2023 - nature.com
Recently, increasing numbers of rare pathogenic genetic variants have been identified that
are associated with variably elevated risks of a range of neurodevelopmental outcomes …

Mapping the genetic architecture of cortical morphology through neuroimaging: progress and perspectives

D van der Meer, T Kaufmann - Translational Psychiatry, 2022 - nature.com
Cortical morphology is a key determinant of cognitive ability and mental health. Its
development is a highly intricate process spanning decades, involving the coordinated …

Convergence and divergence of rare genetic disorders on brain phenotypes: a review

A Raznahan, H Won, DC Glahn… - JAMA psychiatry, 2022 - jamanetwork.com
Importance Rare genetic disorders modulating gene expression—as exemplified by gene
dosage disorders (GDDs)—represent a collectively common set of high-risk factors for …

The enhancing NeuroImaging genetics through meta‐analysis consortium: 10 Years of global collaborations in human brain mapping

PM Thompson, N Jahanshad, L Schmaal… - Human brain …, 2022 - Wiley Online Library
Abstract This Special Issue of Human Brain Mapping is dedicated to a 10‐year anniversary
of the Enhancing NeuroImaging Genetics through Meta‐Analysis (ENIGMA) Consortium. It …

Rare CNVs and phenome-wide profiling highlight brain structural divergence and phenotypical convergence

J Kopal, K Kumar, K Saltoun, C Modenato… - Nature human …, 2023 - nature.com
Copy number variations (CNVs) are rare genomic deletions and duplications that can affect
brain and behaviour. Previous reports of CNV pleiotropy imply that they converge on shared …

A resource of induced pluripotent stem cell (iPSC) lines including clinical, genomic, and cellular data from genetically isolated families with mood and psychotic …

SD Detera-Wadleigh, L Kassem, E Besancon… - Translational …, 2023 - nature.com
Genome-wide (GWAS) and copy number variant (CNV) association studies have
reproducibly identified numerous risk alleles associated with bipolar disorder (BD), major …

Primary psychosis: risk and protective factors and early detection of the onset

C Brasso, B Giordano, C Badino, S Bellino… - Diagnostics, 2021 - mdpi.com
Primary psychosis, which includes schizophrenia and other psychoses not caused by other
psychic or physical conditions, has a strong impact worldwide in terms of disability, suffering …

Discovering the gene-brain-behavior link in autism via generative machine learning

S Kundu, H Sair, EH Sherr, P Mukherjee… - Science …, 2024 - science.org
Autism is traditionally diagnosed behaviorally but has a strong genetic basis. A genetics-first
approach could transform understanding and treatment of autism. However, isolating the …