[HTML][HTML] Copy number variations and schizophrenia

K Szecówka, B Misiak, I Łaczmańska, D Frydecka… - Molecular …, 2023 - Springer
Schizophrenia is a neurodevelopmental disorder with genetic and environmental factors
involved in its aetiology. Genetic liability contributing to the development of schizophrenia is …

[HTML][HTML] The impact of rare protein coding genetic variation on adult cognitive function

CY Chen, R Tian, T Ge, M Lam, G Sanchez-Andrade… - Nature Genetics, 2023 - nature.com
Compelling evidence suggests that human cognitive function is strongly influenced by
genetics. Here, we conduct a large-scale exome study to examine whether rare protein …

An evolutionary perspective on complex neuropsychiatric disease

JM McClellan, AW Zoghbi, JD Buxbaum, C Cappi… - Neuron, 2024 - cell.com
The forces of evolution—mutation, selection, migration, and genetic drift—shape the genetic
architecture of human traits, including the genetic architecture of complex neuropsychiatric …

[HTML][HTML] Association of DNA methylation patterns in 7 novel genes with ischemic stroke in the Northern Chinese Population

H Sun, J Xu - Frontiers in Genetics, 2022 - frontiersin.org
Background: Ischemic stroke is a highly complex disorder. This study aims to identify novel
methylation changes in ischemic stroke. Methods: We carried out an epigenome-wide study …

[HTML][HTML] Pleiotropy between language impairment and broader behavioral disorders—an investigation of both common and rare genetic variants

R Nudel, V Appadurai, A Buil, M Nordentoft… - Journal of …, 2021 - Springer
Background Language plays a major role in human behavior. For this reason,
neurodevelopmental and psychiatric disorders in which linguistic ability is impaired could …

[HTML][HTML] Identifying nootropic drug targets via large-scale cognitive GWAS and transcriptomics

M Lam, CY Chen, T Ge, Y Xia, DW Hill… - …, 2021 - nature.com
Broad-based cognitive deficits are an enduring and disabling symptom for many patients
with severe mental illness, and these impairments are inadequately addressed by current …

SETD1A variant-associated psychosis: A systematic review of the clinical literature and description of two new cases

MA Colijn, P Carrion, G Poirier-Morency… - Progress in Neuro …, 2024 - Elsevier
Objective SETD1A encodes a histone methyltransferase involved in various cell cycle
regulatory processes. Loss-of-function SETD1A variants have been associated with …

Assessment of burden and segregation profiles of CNVs in patients with epilepsy

C Moreau, F Tremblay, S Wolking… - Annals of Clinical …, 2022 - Wiley Online Library
Objective Microdeletions are associated with different forms of epilepsy but show incomplete
penetrance, which is not well understood. We aimed to assess whether unmasked variants …

Novel missense SETD1A variants in Japanese patients with schizophrenia: Resequencing and association analysis

R Morikawa, Y Watanabe, H Igeta, RK Arta, M Ikeda… - Psychiatry …, 2022 - Elsevier
SETD1A has been identified as a substantial risk gene for schizophrenia. To further
investigate the role of SETD1A in the genetic etiology of schizophrenia in the Japanese …

Whole exome sequencing in the UK Biobank reveals risk gene SLC2A1 and biological insights for major depressive disorder

R Tian, T Ge, JZ Liu, M Lam, Biogen Biobank team… - MedRxiv, 2021 - medrxiv.org
Nearly two hundred common-variant depression risk loci have been identified by genome-
wide association studies (GWAS)–. However, the impact of rare coding variants on …