ArticleProceedings of the National Academy of Sciences of the United States of America2021
High-impact rare genetic variants in severe schizophrenia.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
32 citing papers in PubMed, 1 synthesis or guideline pooled it, 50 citations in OpenAlex.
- Genome Wide Association Study (GWAS) Identifies Novel Genetic Loci for Second-Generation Antipsychotics (SGA)-Induced Metabolic Syndrome (MetS).Clinical and translational science · 2025Pooled it
- Potential for Genomics to Help Guide Preventive Strategies in Psychiatry.JAMA psychiatry · 2026Article
- The association of schizophrenia polygenic scores with continuously-hospitalized, treatment-resistant schizophrenia.Molecular psychiatry · 2026Article
- Antipsychotic Use Among Intellectually Disabled Individuals With Rare Genetic Variants That Confer Risk for Schizophrenia.Journal of intellectual disability research : JIDR · 2026Article
- Genetic Variants from Large Cohorts and Familial Studies Implicate Common Mechanisms in Schizophrenia.Biology · 2026Review
- A scoping review of genetic studies of treatment-resistant schizophrenia.Frontiers in genetics · 2026Review
- Schizophrenia.Nature reviews. Disease primers · 2025Review
- Sex-Specific Polygenic Risk Scores and Replication in a Model-Free Analysis of Schizophrenia Data.Genes · 2025Article
- Molecular Underpinning of Treatment-Resistant Schizophrenia: A Putative Different Neurobiology from Treatment-Responsive Schizophrenia.International journal of molecular sciences · 2025Review
- An integrative scoring approach for prioritization of rare autism spectrum disorder candidate variants from whole exome sequencing data.Scientific reports · 2025Article
- Genome-wide prediction of dominant and recessive neurodevelopmental disorder-associated genes.American journal of human genetics · 2025Article
- Red Blood Cell-Related Phenotype-Genotype Correlations in Chronic and Acute Critical Illnesses (Traumatic Brain Injury Cohort and COVID-19 Cohort).International journal of molecular sciences · 2025Article
- Obstacles, Opportunities, and Ethical Considerations for Genomic Investigations of Individuals Continuously Hospitalized with Treatment-resistant Schizophrenia.Schizophrenia bulletin open · 2025Article
- Commentary on "Craniofacial Syndromes and class III phenotype: common genotype fingerprints? A scoping review and meta-analysis".Pediatric research · 2024Article
- Inclusion of the severe and enduring anorexia nervosa phenotype in genetics research: a scoping review.Journal of eating disorders · 2024Article
- Massively parallel screen uncovers many rare 3' UTR variants regulating mRNA abundance of cancer driver genes.Nature communications · 2024Article
- Review
- Biomarkers of treatment-resistant schizophrenia: A systematic review.Neuroscience applied · 2024Article
- Article
- Rare Variants in Primary Immunodeficiency Genes and Their Functional Partners in Severe COVID-19.Biomolecules · 2023Article
Corrections and comments
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Authors and funding
11 authors at 4 institutions in 1 country.
Funding
Abstract
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 schizophrenia. We sequenced 112 individuals with severe, extremely treatment-resistant schizophrenia, 218 individuals with typical schizophrenia, and 4,929 controls. We compared the burden of rare, damaging missense and loss-of-function variants between severe, extremely treatment-resistant schizophrenia, typical schizophrenia, and controls across mutation intolerant genes. Individuals with severe, extremely treatment-resistant schizophrenia had a high burden of rare loss-of-function (odds ratio, 1.91; 95% CI, 1.39 to 2.63;
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.