ArticleJournal of medical genetics2018
Missense variants in the chromatin remodeler
Article in Journal of medical genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 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
40 citing papers in PubMed, 60 citations in OpenAlex.
- KMT2E recruitment by H3 serotonylation regulates neurodevelopmental chromatin dynamics.bioRxiv : the preprint server for biology · 2026Article
- Androgens mediate sexual dimorphism in Pilarowski-Bjornsson syndrome.American journal of human genetics · 2026Article
- An episignature informed systematic analysis to ascertain the clinical significance and consequences of CHD8 missense variants.European journal of human genetics : EJHG · 2026Article
- The NR2F1-Related 5q14.3-q21.1 deletion causing periventricular heterotopia with cerebral visual impairment: a longitudinal case report and genotype-phenotype analysis.Frontiers in genetics · 2026Article
- Molecular interactions of Chd8 in mouse brain highlights a role in chromatin-associated RNA processing.bioRxiv : the preprint server for biology · 2025Article
- Article
- Two distinct phenotypes in Snijders Blok-Campeau syndrome and characterization of the behavioral phenotype in a zebrafish model.European journal of human genetics : EJHG · 2025Article
- Molecular and clinical aspects of histone-related disorders.Human genomics · 2025Review
- Elucidating neuroepigenetic mechanisms to inform targeted therapeutics for brain disorders.iScience · 2025Review
- Chromosome-level reference genome assembly of the gyrfalcon (Falco rusticolus) and population genomics offer insights into the falcon population in Mongolia.Scientific reports · 2025Article
- Chromatinopathies: insight in clinical aspects and underlying epigenetic changes.Journal of applied genetics · 2024Review
- Five years of experience in the Epigenetics and Chromatin Clinic: what have we learned and where do we go from here?Human genetics · 2024Article
- Epigenetic regulation of craniofacial development and disease.Birth defects research · 2024Review
- A Saudi Girl With Co-occurring CHD1 (Pilarowski-Bjornsson Syndrome) and ASH1L Gene Variants.Cureus · 2023Article
- Small molecule modulators of chromatin remodeling: from neurodevelopment to neurodegeneration.Cell & bioscience · 2023Review
- CHD1, a multifaceted epigenetic remodeler in prostate cancer.Frontiers in oncology · 2023Review
- Expression of targets of the RNA-binding protein AUF-1 in human airway epithelium indicates its role in cellular senescence and inflammation.Frontiers in immunology · 2023Article
- Reprogramming of the epigenome in neurodevelopmental disorders.Critical reviews in biochemistry and molecular biology · 2022Review
- Mammalian Resilience Revealed by a Comparison of Human Diseases and Mouse Models Associated With DNA Helicase Deficiencies.Frontiers in molecular biosciences · 2022Review
- Transcription Pause and Escape in Neurodevelopmental Disorders.Frontiers in neuroscience · 2022Review
Corrections and comments
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Authors and funding
19 authors at 8 institutions in 2 countries.
Funding
Abstract
backgroundThe list of Mendelian disorders of the epigenetic machinery has expanded rapidly during the last 5 years. A few missense variants in the chromatin remodeler
objectivesTo explore whether variants in
methodsWe used GeneMatcher to identify other physicians caring for patients with variants in
resultsHere we describe six
conclusionsOur results suggest that variants in
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.