ArticleNature genetics2017
Truncating mutations in RBM12 are associated with psychosis.
Article in Nature genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 44 papers, 1 of them a synthesis that pooled it.
What it found
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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
44 citing papers in PubMed, 1 synthesis or guideline pooled it, 72 citations in OpenAlex.
- GWAS meta-analysis reveals key risk loci in essential tremor pathogenesis.Communications biology · 2024Pooled it
- Rare Variants in HTRA1, SGTB, and RBM12 Confer Risk of Atherosclerotic Cardiovascular Disease Independent of Traditional Cardiovascular Risk Factors.Circulation. Genomic and precision medicine · 2025Article
- Whole Genome Sequencing of Pedigrees With High Density of Substance Use and Psychiatric Disorders: A Meeting Report.Genes, brain, and behavior · 2025Article
- Review
- Cohort profile: SUPER-Finland - the Finnish study for hereditary mechanisms of psychotic disorders.BMJ open · 2023Article
- Schizophrenia risk conferred by rare protein-truncating variants is conserved across diverse human populations.Nature genetics · 2023Article
- The psychosis risk factorbioRxiv : the preprint server for biology · 2023Article
- A Missense Variant in CASKIN1's Proline-Rich Region Segregates with Psychosis in a Three-Generation Family.Genes · 2023Article
- Identification and characterization of RBM12 as a novel regulator of fetal hemoglobin expression.Blood advances · 2022Article
- The benefit of diagnostic whole genome sequencing in schizophrenia and other psychotic disorders.Molecular psychiatry · 2022Article
- Genomic and neuroimaging approaches to bipolar disorder.BJPsych open · 2022Review
- Analysis of trio test in neurodevelopmental disorders.Frontiers in pediatrics · 2022Article
- THC-induced behavioral stereotypy in zebrafish as a model of psychosis-like behavior.Scientific reports · 2021Article
- IncreasedJournal of gastrointestinal oncology · 2021Article
- The conserved ASTN2/BRINP1 locus at 9q33.1-33.2 is associated with major psychiatric disorders in a large pedigree from Southern Spain.Scientific reports · 2021Article
- Combined cellomics and proteomics analysis reveals shared neuronal morphology and molecular pathway phenotypes for multiple schizophrenia risk genes.Molecular psychiatry · 2021Article
- A unique missense variant in the E1A-binding protein P400 gene is implicated in schizophrenia by whole-exome sequencing and mutant mouse models.Translational psychiatry · 2021Article
- Publicly Available hiPSC Lines with Extreme Polygenic Risk Scores for Modeling Schizophrenia.Complex psychiatry · 2021Article
- Familial Psychosis Associated With a Missense Mutation atFrontiers in genetics · 2021Article
- Polygenic inheritance, GWAS, polygenic risk scores, and the search for functional variants.Proceedings of the National Academy of Sciences of the United States of America · 2020Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
20 authors at 4 institutions in 3 countries.
Funding
Abstract
Thus far, a handful of highly penetrant mutations conferring risk of psychosis have been discovered. Here we used whole-genome sequencing and long-range phasing to investigate an Icelandic kindred containing ten individuals with psychosis (schizophrenia, schizoaffective disorder or psychotic bipolar disorder). We found that all affected individuals carry RBM12 (RNA-binding-motif protein 12) c.2377G>T (P = 2.2 × 10
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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.