ReviewEpigenetics2012
SWI/SNF complex in disorder: SWItching from malignancies to intellectual disability.
Review in Epigenetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers, 1 of them a synthesis 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
41 citing papers in PubMed, 1 synthesis or guideline pooled it, 76 citations in OpenAlex.
- Germline variants in SMARCB1 and other members of the BAF chromatin-remodeling complex across human disease entities: a meta-analysis.European journal of human genetics : EJHG · 2018Pooled it
- Clinical and Genetic Analysis of SMARCC2-Related Diseases in Three Chinese Patients.Molecular genetics & genomic medicine · 2026Article
- Clinicopathological and molecular perspectives on thoracic SMARCA4-deficient undifferentiated tumors and SMARCA4-deficient non-small cell lung carcinomas.Pathologica · 2025Review
- Proteome-wide model for human disease genetics.Nature genetics · 2025Article
- Article
- Pharmacological disruption of mSWI/SNF complex activity restricts SARS-CoV-2 infection.Nature genetics · 2023Article
- Molecular characterization of an embryonal rhabdomyosarcoma occurring in a patient with Kabuki syndrome: report and literature review in the light of tumor predisposition syndromes.Familial cancer · 2023Review
- A novel nonsense variant in ARID1B causing simultaneous RNA decay and exon skipping is associated with Coffin-Siris syndrome.Human genome variation · 2022Article
- Phenotypic and molecular spectra of patients with switch/sucrose nonfermenting complex-related intellectual disability disorders in Korea.BMC medical genomics · 2021Article
- Cornelia de Lange Syndrome as Paradigm of Chromatinopathies.Frontiers in neuroscience · 2021Review
- De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndrome.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
- Coffin-Siris Syndrome 4-Related Spectrum in a Young Woman Caused by a HeterozygousMolecular syndromology · 2020Article
- Article
- Mutations in SMARCB1 and in other Coffin-Siris syndrome genes lead to various brain midline defects.Nature communications · 2019Article
- Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons.American journal of human genetics · 2019Article
- Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome.Clinical epigenetics · 2019Article
- Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay.American journal of human genetics · 2019Article
- BAFopathies' DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin-Siris and Nicolaides-Baraitser syndromes.Nature communications · 2018Article
- General Anesthesia and Young Brain: What is New?Journal of neurosurgical anesthesiology · 2018Review
- DNA repair goes hip-hop: SMARCA and CHD chromatin remodellers join the break dance.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2017Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 1 institution in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Heterozygous germline mutations in components of switch/sucrose nonfermenting (SWI/SNF) chromatin remodeling complexes were recently identified in patients with non-syndromic intellectual disability, Coffin-Siris syndrome and Nicolaides-Baraitser syndrome. The common denominator of the phenotype of these patients is severe intellectual disability and speech delay. Somatic and germline mutations in SWI/SNF components were previously implicated in tumor development. This raises the question whether patients with intellectual disability caused by SWI/SNF mutations in the germline are exposed to an increased risk of developing cancer. Here we compare the mutational spectrum of SWI/SNF components in intellectual disability syndromes and cancer, and discuss the implications of the results of this comparison for the patients.
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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.