The contribution of rare variants to risk of schizophrenia in individuals with and without intellectual disability

T Singh, JTR Walters, M Johnstone, D Curtis… - Nature …, 2017 - nature.com
… a subset of patients with schizophrenia who have comorbid … thus far of rare variant data for
schizophrenia, which we jointly … genes disrupted by rare risk variants in schizophrenia and to …

Rare coding variants in ten genes confer substantial risk for schizophrenia

T Singh, T Poterba, D Curtis, H Akil, M Al Eissa… - Nature, 2022 - nature.com
… of schizophrenia. We observe an overlap of rare variant risk among schizophrenia, autism
… that genes prioritized from common variant analyses of schizophrenia are enriched in rare

Joint contributions of rare copy number variants and common SNPs to risk for schizophrenia

, … Analysis Group and the Schizophrenia … - American Journal of …, 2019 - Am Psychiatric Assoc
… common SNPs and rare CNVs jointly contribute to the risk for schizophrenia. We tested a …
to confer disease risk. This model predicts that individuals with schizophrenia who have large-…

Suggestion of roles for both common and rare risk variants in genome-wide studies of schizophrenia

MJ Owen, N Craddock… - Archives of general …, 2010 - jamanetwork.com
… that common risk variants exist in … rare variants in schizophrenia, and some (but not a
substantial part) of the polygenic contribution that was observed in the International Schizophrenia

High-impact rare genetic variants in severe schizophrenia

AW Zoghbi, RS Dhindsa, TE Goldberg… - Proceedings of the …, 2021 - National Acad Sciences
… of rare variant risk factors in individuals with severe, extremely treatment-resistant schizophrenia
suggests future clinical opportunities for risk … studies in schizophrenia and highlight a …

Exome sequencing identifies rare coding variants in 10 genes which confer substantial risk for schizophrenia

T Singh, BM Neale, MJ Daly - MedRxiv, 2020 - medrxiv.org
schizophrenia. We find significant evidence for an overlap of rare variant risk between
schizophrenia, … a neurodevelopmental etiology for schizophrenia. We show that protein-truncating …

Shifting the focus toward rare variants in schizophrenia to close the gap from genotype to phenotype

ML Bustamante, L Herrera, PA Gaspar… - American Journal of …, 2017 - Wiley Online Library
Schizophrenia (SZ) is a disorder with a high heritability and a complex architecture. Several
dozen genetic variants have been identified as risk … However, the bulk of the risk cannot be …

Genome sequencing broadens the range of contributing variants with clinical implications in schizophrenia

BA Mojarad, Y Yin, R Manshaei, I Backstrom… - Translational …, 2021 - nature.com
schizophrenia polygenic risk score was similar between individuals with and without clinically
relevant rare genetic variation; common variants … to clinically relevant rare variant burden, …

Rare copy number variants: a point of rarity in genetic risk for bipolar disorder and schizophrenia

D Grozeva, G Kirov, D Ivanov, IR Jones… - Archives of general …, 2010 - jamanetwork.com
… of large, rare deletions may modify the phenotype in those at risk of psychosis: those
possessing such events are more likely to be diagnosed as having schizophrenia, and those …

Integrated Bayesian analysis of rare exonic variants to identify risk genes for schizophrenia and neurodevelopmental disorders

HT Nguyen, J Bryois, A Kim, A Dobbyn, LM Huckins… - Genome medicine, 2017 - Springer
… We present a pipeline for integrative analysis of trio-based DN variants and CC rare variants,
to infer rare-variant genetic architecture parameters and to identify disease risk genes. We …