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 …
[HTML][HTML] 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 …
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 …
Strong association of de novo copy number mutations with sporadic schizophrenia
Schizophrenia is an etiologically heterogeneous psychiatric disease, which exists in familial
and nonfamilial (sporadic) forms. Here, we examine the possibility that rare de novo copy …
and nonfamilial (sporadic) forms. Here, we examine the possibility that rare de novo copy …
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 …
Elucidating the genetic architecture of familial schizophrenia using rare copy number variant and linkage scans
B Xu, A Woodroffe… - Proceedings of the …, 2009 - National Acad Sciences
To elucidate the genetic architecture of familial schizophrenia we combine linkage analysis
with studies of fine-level chromosomal variation in families recruited from the Afrikaner …
with studies of fine-level chromosomal variation in families recruited from the Afrikaner …
Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia
By analyzing the exomes of 12,332 unrelated Swedish individuals, including 4,877
individuals affected with schizophrenia, in ways informed by exome sequences from 45,376 …
individuals affected with schizophrenia, in ways informed by exome sequences from 45,376 …
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 …
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 …
[HTML][HTML] 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 …
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