[PDF][PDF] Loss-of-function variants in schizophrenia risk and SETD1A as a candidate susceptibility gene
Summary Loss-of-function (LOF)(ie, nonsense, splice site, and frameshift) variants that lead
to disruption of gene function are likely to contribute to the etiology of neuropsychiatric …
to disruption of gene function are likely to contribute to the etiology of neuropsychiatric …
Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders
By analyzing the whole-exome sequences of 4,264 schizophrenia cases, 9,343 controls and
1,077 trios, we identified a genome-wide significant association between rare loss-of …
1,077 trios, we identified a genome-wide significant association between rare loss-of …
De novo mutations identified by exome sequencing implicate rare missense variants in SLC6A1 in schizophrenia
Schizophrenia is a highly polygenic disorder with important contributions from both common
and rare risk alleles. We analyzed exome sequencing data for de novo variants (DNVs) in a …
and rare risk alleles. We analyzed exome sequencing data for de novo variants (DNVs) in a …
Genetic architecture of schizophrenia: a review of major advancements
SE Legge, ML Santoro, S Periyasamy… - Psychological …, 2021 - cambridge.org
Schizophrenia is a severe psychiatric disorder with high heritability. Consortia efforts and
technological advancements have led to a substantial increase in knowledge of the genetic …
technological advancements have led to a substantial increase in knowledge of the genetic …
Whole-genome sequencing of monozygotic twins discordant for schizophrenia indicates multiple genetic risk factors for schizophrenia
Schizophrenia is a common disorder with a high heritability, but its genetic architecture is
still elusive. We implemented whole-genome sequencing (WGS) analysis of 8 families with …
still elusive. We implemented whole-genome sequencing (WGS) analysis of 8 families with …
Schizophrenia risk variants influence multiple classes of transcripts of sorting nexin 19 (SNX19)
Genome-wide association studies (GWAS) have identified many genomic loci associated
with risk for schizophrenia, but unambiguous identification of the relationship between …
with risk for schizophrenia, but unambiguous identification of the relationship between …
Accurately assessing the risk of schizophrenia conferred by rare copy-number variation affecting genes with brain function
Investigators have linked rare copy number variation (CNVs) to neuropsychiatric diseases,
such as schizophrenia. One hypothesis is that CNV events cause disease by affecting genes …
such as schizophrenia. One hypothesis is that CNV events cause disease by affecting genes …
Gene expression elucidates functional impact of polygenic risk for schizophrenia
Over 100 genetic loci harbor schizophrenia-associated variants, yet how these variants
confer liability is uncertain. The CommonMind Consortium sequenced RNA from …
confer liability is uncertain. The CommonMind Consortium sequenced RNA from …
[PDF][PDF] Landscape of conditional eQTL in dorsolateral prefrontal cortex and co-localization with schizophrenia GWAS
Causal genes and variants within genome-wide association study (GWAS) loci can be
identified by integrating GWAS statistics with expression quantitative trait loci (eQTL) and …
identified by integrating GWAS statistics with expression quantitative trait loci (eQTL) and …
A transcriptome-wide association study implicates specific pre-and post-synaptic abnormalities in schizophrenia
Schizophrenia is a complex highly heritable disorder. Genome-wide association studies
(GWAS) have identified multiple loci that influence the risk of developing schizophrenia …
(GWAS) have identified multiple loci that influence the risk of developing schizophrenia …