ArticleJournal of medical genetics2020
De novo variants in
Article in Journal of medical genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT00305305 (Disorders of Cerebral Development), which is not on this map. Cited by 15 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.
Disorders of Cerebral Development: A Phenotypic and Genetic Analysis
Who cites it
15 citing papers in PubMed, 20 citations in OpenAlex.
- Perinatal insults, genetic susceptibility, and the pathogenesis of neurodevelopmental disorders: from epigenetic remodeling to neural circuit dysfunction-a narrative review.Translational pediatrics · 2026Review
- Pan-Chung-Bellen Syndrome with Co-occurring NEDDFAC (SUPT16H): A Novel Digenic Neurodevelopmental Presentation Masquerading as Autism Spectrum Disorder.Indian journal of pediatrics · 2026Article
- SUPT16H-associated neurodevelopmental disorder and neurocristopathy: genetic and phenotypic spectrum.Human molecular genetics · 2026Article
- Insights into FACT in Cancers with Targeted Therapeutic Implications.Molecular and cellular biology · 2026Review
- Article
- Resolving complex duplication variants in autism spectrum disorder using long-read genome sequencing.Genome research · 2024Article
- The FAcilitates Chromatin Transcription complex regulates the ratio of glycolysis to oxidative phosphorylation in neural stem cells.Journal of molecular cell biology · 2024Article
- Comprehensive network modeling approaches unravel dynamic enhancer-promoter interactions across neural differentiation.Genome biology · 2024Article
- Assessing contributions of DNA sequences at the 3' end of a yeast gene on yFACT, RNA polymerase II, and nucleosome occupancy.BMC research notes · 2024Article
- Comprehensive network modeling approaches unravel dynamic enhancer-promoter interactions across neural differentiation.bioRxiv : the preprint server for biology · 2024Article
- Trapping of yFACT at 3' ends of genes is not a universal characteristic of yeast versions of Bryant-Li-Bhoj syndrome histone H3 mutants.microPublication biology · 2024Article
- The fly homolog of SUPT16H, a gene associated with neurodevelopmental disorders, is required in a cell-autonomous fashion for cell survival.Human molecular genetics · 2023Article
- Article
- Dominant effects of the histone mutant H3-L61R on Spt16-gene interactions in budding yeast.Epigenetics · 2022Article
- Clinical evaluation of rare copy number variations identified by chromosomal microarray in a Hungarian neurodevelopmental disorder patient cohort.Molecular cytogenetics · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
12 authors at 5 institutions in 3 countries.
Funding
Abstract
introductionWhole-exome sequencing (WES) has identified de novo variants in chromatin remodelling genes in patients with neurodevelopmental disorders (NDD). We report on a novel genetic discovery in chromatin remodelling in patients with NDD who also have corpus callosum (CC) anomalies.
objectiveTo discover novel genes linked to both CC anomalies and NDD.
methodsClinical WES was performed for evaluation of NDD, identifying five patients with de novo variants in
resultsWe identified four patients with de novo missense variants in
conclusionOur findings implicate the gene
Indexed as
Identifiers
What 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.