ReviewFrontiers in molecular neuroscience2018
Mutational Landscapes and Phenotypic Spectrum of SWI/SNF-Related Intellectual Disability Disorders.
Review in Frontiers in molecular neuroscience, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 97 papers.
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
97 citing papers in PubMed, 146 citations in OpenAlex.
- Trial
- Expanding the KBG syndrome phenotype through 2D facial morphometry, clinical and molecular characterization.Biomedical reports · 2026Article
- Expanding the Phenotypic Spectrum Associated With Loss-of-Function SMARCA4 Variants to Eye Developmental Anomalies.Clinical genetics · 2026Article
- Gene-specific pathogenicity predictor for chromatin remodeling BAF complex-associated neurodevelopmental disorders.HGG advances · 2026Article
- Cooperation of Transcription Factor PAX6 with Chromatin-Remodeling Complex BAF During Embryonic Development in Mammals.Cellular and molecular neurobiology · 2026Review
- Genome-wide association study of myopia progression in Chinese adolescents and application of polygenic risk score prediction.Frontiers in chemistry · 2026Article
- Joint analysis ofNAR genomics and bioinformatics · 2025Article
- Clinical characteristics and prognostic analysis of 22 cases of SMARCA4-deficient thoracic tumors: a retrospective observational study.Journal of thoracic disease · 2025Article
- Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.Nature communications · 2025Article
- Polycomb-associated and Trithorax-associated developmental conditions-phenotypic convergence and heterogeneity.European journal of human genetics : EJHG · 2025Article
- Gene Specific Pathogenicity Predictor for Chromatin-Remodeling BAF Complex-Associated Neurodevelopmental Disorders.bioRxiv : the preprint server for biology · 2025Article
- Precise modulation of BRG1 levels reveals features of mSWI/SNF dosage sensitivity.Nature genetics · 2025Article
- SMARCB1-related schwannomatosis and other SMARCB1-associated phenotypes: clinical spectrum and molecular pathogenesis.Familial cancer · 2025Review
- SWI/SNF Complex Connects Signaling and Epigenetic State in Cells of Nervous System.Molecular neurobiology · 2025Review
- Article
- Article
- Identification of variants in SWI/SNF complex genes associated with neurodevelopmental disorders.Frontiers in genetics · 2025Article
- A novel mutation in SMARCB1 associated with adult Coffin-Siris syndrome and meningioma.Acta biochimica et biophysica Sinica · 2024Article
- Frameshift Variant inJournal of pediatric genetics · 2024Article
- SMARCA4 Loss and Mutated β-Catenin Induce Proliferative Lesions in the Murine Embryonic Cerebellum.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2024Article
37 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mutations in genes that encode proteins of the SWI/SNF complex, called BAF complex in mammals, cause a spectrum of disorders that ranges from syndromic intellectual disability to Coffin-Siris syndrome (CSS) to Nicolaides-Baraitser syndrome (NCBRS). While NCBRS is known to be a recognizable and restricted phenotype, caused by missense mutations in
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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.