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 …
High rate of disease-related copy number variations in childhood onset schizophrenia
K Ahn, N Gotay, TM Andersen, AA Anvari… - Molecular …, 2014 - nature.com
Copy number variants (CNVs) are risk factors in neurodevelopmental disorders, including
autism, epilepsy, intellectual disability (ID) and schizophrenia. Childhood onset …
autism, epilepsy, intellectual disability (ID) and schizophrenia. Childhood onset …
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 …
Schizophrenia, autism spectrum disorders and developmental disorders share specific disruptive coding mutations
E Rees, HDJ Creeth, HG Hwu, WJ Chen… - Nature …, 2021 - nature.com
People with schizophrenia are enriched for rare coding variants in genes associated with
neurodevelopmental disorders, particularly autism spectrum disorders and intellectual …
neurodevelopmental disorders, particularly autism spectrum disorders and intellectual …
De novo mutations in schizophrenia implicate chromatin remodeling and support a genetic overlap with autism and intellectual disability
Schizophrenia is a serious psychiatric disorder with a broadly undiscovered genetic
etiology. Recent studies of de novo mutations (DNMs) in schizophrenia and autism have …
etiology. Recent studies of de novo mutations (DNMs) in schizophrenia and autism have …
Integrated Bayesian analysis of rare exonic variants to identify risk genes for schizophrenia and neurodevelopmental disorders
Background Integrating rare variation from trio family and case–control studies has
successfully implicated specific genes contributing to risk of neurodevelopmental disorders …
successfully implicated specific genes contributing to risk of neurodevelopmental disorders …
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 …
Varying intolerance of gene pathways to mutational classes explain genetic convergence across neuropsychiatric disorders
Genetic susceptibility to intellectual disability (ID), autism spectrum disorder (ASD), and
schizophrenia (SCZ) often arises from mutations in the same genes, suggesting that they …
schizophrenia (SCZ) often arises from mutations in the same genes, suggesting that they …
Increased exonic de novo mutation rate in individuals with schizophrenia
Schizophrenia is a severe psychiatric disorder that profoundly affects cognitive, behavioral
and emotional processes. The wide spectrum of symptoms and clinical variability in …
and emotional processes. The wide spectrum of symptoms and clinical variability in …
Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects
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 …
schizophrenia (SCZ). However, genome-wide investigation of the contribution of CNV to risk …