Schizophrenia risk conferred by rare protein-truncating variants is conserved across diverse human populations
D Liu, D Meyer, B Fennessy, C Feng, E Cheng… - Nature …, 2023 - nature.com
Schizophrenia (SCZ) is a chronic mental illness and among the most debilitating conditions
encountered in medical practice. A recent landmark SCZ study of the protein-coding regions …
encountered in medical practice. A recent landmark SCZ study of the protein-coding regions …
The contribution of rare variants to risk of schizophrenia in individuals with and without intellectual disability
By performing a meta-analysis of rare coding variants in whole-exome sequences from
4,133 schizophrenia cases and 9,274 controls, de novo mutations in 1,077 family trios, and …
4,133 schizophrenia cases and 9,274 controls, de novo mutations in 1,077 family trios, and …
A comprehensive family-based replication study of schizophrenia genes
Importance Schizophrenia (SCZ) is a devastating psychiatric condition. Identifying the
specific genetic variants and pathways that increase susceptibility to SCZ is critical to …
specific genetic variants and pathways that increase susceptibility to SCZ is critical to …
Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection
AF Pardiñas, P Holmans, AJ Pocklington… - Nature …, 2018 - nature.com
Schizophrenia is a debilitating psychiatric condition often associated with poor quality of life
and decreased life expectancy. Lack of progress in improving treatment outcomes has been …
and decreased life expectancy. Lack of progress in improving treatment outcomes has been …
High-impact rare genetic variants in severe schizophrenia
Extreme phenotype sequencing has led to the identification of high-impact rare genetic
variants for many complex disorders but has not been applied to studies of severe …
variants for many complex disorders but has not been applied to studies of severe …
Genetic studies of schizophrenia: an update
Schizophrenia (SCZ) is a complex and heterogeneous mental disorder that affects about 1%
of global population. In recent years, considerable progress has been made in genetic …
of global population. In recent years, considerable progress has been made in genetic …
[PDF][PDF] Exome sequencing followed by large-scale genotyping suggests a limited role for moderately rare risk factors of strong effect in schizophrenia
Schizophrenia is a severe psychiatric disorder with strong heritability and marked
heterogeneity in symptoms, course, and treatment response. There is strong interest in …
heterogeneity in symptoms, course, and treatment response. There is strong interest in …
Genome sequencing broadens the range of contributing variants with clinical implications in schizophrenia
The range of genetic variation with potential clinical implications in schizophrenia, beyond
rare copy number variants (CNVs), remains uncertain. We therefore analyzed genome …
rare copy number variants (CNVs), remains uncertain. We therefore analyzed genome …
Exome sequencing in schizophrenia-affected parent–offspring trios reveals risk conferred by protein-coding de novo mutations
Protein-coding de novo mutations (DNMs) are significant risk factors in many
neurodevelopmental disorders, whereas schizophrenia (SCZ) risk associated with DNMs …
neurodevelopmental disorders, whereas schizophrenia (SCZ) risk associated with DNMs …
Genome-wide association study detected novel susceptibility genes for schizophrenia and shared trans-populations/diseases genetic effect
M Ikeda, A Takahashi, Y Kamatani… - Schizophrenia …, 2019 - academic.oup.com
Genome-wide association studies (GWASs) have identified> 100 susceptibility loci for
schizophrenia (SCZ) and demonstrated that SCZ is a polygenic disorder determined by …
schizophrenia (SCZ) and demonstrated that SCZ is a polygenic disorder determined by …