SynthesisNature neuroscience2016
Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability.
Synthesis in Nature neuroscience, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 282 papers, 2 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
282 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Canonical and Non-Canonical Antipsychotics' Dopamine-Related Mechanisms of Present and Next Generation Molecules: A Systematic Review on Translational Highlights for Treatment Response and Treatment-Resistant Schizophrenia.International journal of molecular sciences · 2023Pooled it
- Gene expression profiles in sporadic ALS fibroblasts define disease subtypes and the metabolic effects of the investigational drug EH301.Human molecular genetics · 2022Pooled it
- DeNovoSeer:a deep learning framework for pathogenicity prediction of De novo mutations.Briefings in bioinformatics · 2026Article
- Trio analysis in dystonia identifies de novo KLC1 variants in a kinesinopathy with distinct motor and neurodevelopmental features.EBioMedicine · 2026Article
- Chromosome 22q13 terminal deletion size is associated with relevant clinical features in a sample of 63 Italian patients with Phelan-McDermid syndrome.Journal of neurodevelopmental disorders · 2026Article
- Gene variants in periventricular nodular heterotopia.Acta epileptologica · 2026Review
- Article
- The TRIP12's intrinsically disordered region induces chromatin condensates and interferes with nuclear processes.iScience · 2026Article
- Calcium overload induced mitochondrial and lysosomal dysfunction is regulated by Tousled-like kinase in a-synucleinopathy.Cell death & disease · 2026Article
- Case Report: Epidermal growth factor receptor germline variant associated with epilepsy and rare, distinctive cerebral MRI abnormalities.Frontiers in radiology · 2026Article
- Neuronal differentiation and activity drive nucleocytoplasmic shuttling of the intellectual disability kinase TLK2.Frontiers in cellular neuroscience · 2026Article
- A Tousled-like kinase (TLK) homolog required for male germline stem cell homeostasis in the planarian Schmidtea mediterranea.Developmental biology · 2026Article
- Novel TRIP12 variants in two Lebanese patients with neurodevelopmental delay.BMC medical genomics · 2025Article
- Intellectual developmental disorder 56 associated with novel variants in the clathrin heavy chain encoding CLTC gene and brief review of the literature.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025Review
- A Boy with a Novel Variant inChildren (Basel, Switzerland) · 2025Article
- A splice-switching antisense oligonucleotide approach for pediatric genetic epilepsies.bioRxiv : the preprint server for biology · 2025Article
- SETBP1 variants outside the degron disrupt DNA-binding, transcription and neuronal differentiation capacity to cause a heterogeneous neurodevelopmental disorder.Nature communications · 2025Article
- Mapping human brain cell type origin and diseases through single-cell transcriptomics.Translational psychiatry · 2025Review
- Biallelic LGI1 and ADAM23 variants cause hippocampal epileptic encephalopathy via the LGI1-ADAM22/23 pathway.Brain : a journal of neurology · 2025Article
- Enhancing Genetic Insight: Chromosomal Microarray Enhances Understanding of Genetics in Rubinstein-Taybi Syndrome.Molecular syndromology · 2025Article
222 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
22 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
To identify candidate genes for intellectual disability, we performed a meta-analysis on 2,637 de novo mutations, identified from the exomes of 2,104 patient-parent trios. Statistical analyses identified 10 new candidate ID genes: DLG4, PPM1D, RAC1, SMAD6, SON, SOX5, SYNCRIP, TCF20, TLK2 and TRIP12. In addition, we show that these genes are intolerant to nonsynonymous variation and that mutations in these genes are associated with specific clinical ID phenotypes.
Indexed as
Identifiers
27479843What OpenQuestion holds
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.