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
… trios, and copy number variants from 6,882 cases and 11,255 controls, we show that individuals
with schizophrenia carry a significant burden of rare, damaging variants in 3,488 genes …

High-impact rare genetic variants in severe schizophrenia

AW Zoghbi, RS Dhindsa, TE Goldberg… - Proceedings of the …, 2021 - National Acad Sciences
… , we found that selecting individuals with extremely severe forms of schizophrenia led to a
… -associated rare variants. The high prevalence of rare variant risk factors in individuals with …

… spectrum of allelic variation in schizophrenia: current evidence and strategies for the identification and functional characterization of common and rare variants

BJ Mowry, J Gratten - Molecular psychiatry, 2013 - nature.com
… Studies involving parents and offspring suggest that a high proportion of CNVs at identified
schizophrenia loci are de novo in the individuals in which they occur (for example, >80% of …

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
individuals in the general population in terms of structural variation. The frequency of these
variants is relatively lower than the single nucleotide variants, … studied in individuals affected …

[HTML][HTML] 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
… To assess these variables with respect to clinically relevant rare variant burden, we used a
… There was no overlap of individuals in the training dataset with our schizophrenia cohort (…

[HTML][HTML] Discovery of rare variants implicated in schizophrenia using next-generation sequencing

R Rhoades, F Jackson, S Teng - Journal of translational genetics …, 2019 - ncbi.nlm.nih.gov
… famSKAT is a statistical strategy that uses sequence kernel association to evaluate rare
variants in samples that contain related individuals [56] . FamBT is a burden analysis that can be …

[HTML][HTML] Mutation burden of rare variants in schizophrenia candidate genes

SL Girard, PA Dion, CV Bourassa, S Geoffroy… - PloS one, 2015 - journals.plos.org
… in this study and the fact that we are looking at rare variants. … the individuals carrying variants
in SBNO1 and found that the signal was driven by variants shared by a subset of individuals

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
… sufficient power to evaluate the individual schizophrenia risk genes associated in our study …

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
rare variants in schizophrenia, and some (but not a substantial part) of the polygenic contribution
that was observed in the International Schizophreniaschizophrenia in those individuals

Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia

G Genovese, M Fromer, EA Stahl, DM Ruderfer… - Nature …, 2016 - nature.com
… gene is likely to have rare variants that explain even 1% of schizophrenia cases. … rare
variants and schizophrenia, we identified in schizophrenia cases an ultra-rare splice donor variant