ArticleNature genetics2023
The impact of rare protein coding genetic variation on adult cognitive function.
Article in Nature genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers.
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Who cites it
42 citing papers in PubMed, 58 citations in OpenAlex.
- Imputation of fluid intelligence scores reduces ascertainment bias and increases power for analyses of common and rare variants.Nature genetics · 2026Article
- The contribution of common and rare genetic variation to emotional and behavioural symptoms in childhood and adolescence.Molecular psychiatry · 2026Article
- Common and rare genetic variant associations with cognitive performance across development in British birth cohorts.Nature human behaviour · 2026Article
- Analysis of rare coding variants in schizophrenia-associated genes and generalised cognition in the UK Biobank.Molecular psychiatry · 2026Article
- BCAS-3 is required for the progression of autophagosome formation to degrade paternal mitochondria iniScience · 2026Article
- Buffering of gene dosage response curves for human complex traits.Cell genomics · 2026Article
- Genome-wide pleiotropic analysis identifies shared genetic architecture within the cognition-immune nexus.Translational psychiatry · 2026Article
- A comprehensive overview of the biological foundations of ADHD.Bioscience reports · 2026Review
- Dysfunction of a SET3-like complex underlies a family of related neurological disorders.Nature communications · 2026Article
- Crystallized and fluid cognitive abilities have different genetic associations with neuropsychiatric disorders.Nature communications · 2026Article
- predicTox: an integrated database of clinical risk frequencies and human gene expression signatures for cardiotoxic drugs.Database : the journal of biological databases and curation · 2026Article
- Review
- Adhesion G-Protein Coupled Receptors in Neurological and Psychiatric Disorders.Journal of psychiatry and brain science · 2025Article
- Investigating the interplay between prematurity and genetic variation in the context of rare developmental disorders.Genome medicine · 2025Article
- Whole-genome Sequence Analysis Revealed Novel Subjective Cognitive Decline-associated Genes in 10,763 Chinese.Genomics, proteomics & bioinformatics · 2025Article
- The Role of SLC39A8.p.(Ala391Thr) in Schizophrenia Symptom Severity and Cognitive Ability: Cross-Sectional Studies of Schizophrenia and the General UK Population.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2025Article
- Reproductive and cognitive phenotypes in carriers of recessive pathogenic variants.Nature human behaviour · 2025Article
- Genetic architectures of childhood maltreatment and causal influence of childhood maltreatment on health outcomes in adulthood.Molecular psychiatry · 2025Article
- Knockout of bcas3 gene causes neurodevelopment defects in zebrafish.Biological research · 2025Article
- Article
Corrections and comments
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Authors and funding
23 authors at 13 institutions in 4 countries.
Funding
Abstract
Compelling evidence suggests that human cognitive function is strongly influenced by genetics. Here, we conduct a large-scale exome study to examine whether rare protein-coding variants impact cognitive function in the adult population (n = 485,930). We identify eight genes (ADGRB2, KDM5B, GIGYF1, ANKRD12, SLC8A1, RC3H2, CACNA1A and BCAS3) that are associated with adult cognitive function through rare coding variants with large effects. Rare genetic architecture for cognitive function partially overlaps with that of neurodevelopmental disorders. In the case of KDM5B we show how the genetic dosage of one of these genes may determine the variability of cognitive, behavioral and molecular traits in mice and humans. We further provide evidence that rare and common variants overlap in association signals and contribute additively to cognitive function. Our study introduces the relevance of rare coding variants for cognitive function and unveils high-impact monogenic contributions to how cognitive function is distributed in the normal adult population.
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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.