ArticleThe Journal of biological chemistry2017
A Novel Kleefstra Syndrome-associated Variant That Affects the Conserved TPL
Article in The Journal of biological chemistry, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.
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
16 citing papers in PubMed, 1 synthesis or guideline pooled it, 26 citations in OpenAlex.
- Highlighting cardiovascular manifestations of kleefstra syndrome: literature review and clinical insights.BMC cardiovascular disorders · 2025Pooled it
- Interpreting human genetic variation at atomic resolution.Nature genetics · 2026Review
- Deep phenotyping of EHMT1 ankyrin repeat domain missense variants in Kleefstra syndrome by multi-tiered structural genomics analyses at atomic resolution.Human molecular genetics · 2026Article
- De novo EHMT2 variants cause an autosomal dominant EHMT2-related Kleefstra syndrome via loss of G9a methyltransferase activity.Nature communications · 2026Article
- Clinical characteristics and genetic analysis of four pediatric patients with Kleefstra syndrome.BMC medical genomics · 2024Article
- Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome.American journal of human genetics · 2024Article
- Computational structural genomics and clinical evidence suggest BCKDK gain-of-function may cause a potentially asymptomatic maple syrup urine disease phenotype.JIMD reports · 2024Article
- Writers and readers of H3K9me2 form distinct protein networks during the cell cycle that include candidates for H3K9 mimicry.Bioscience reports · 2023Article
- Longitudinal imaging in Kleefstra syndrome-Brief report and literature review.Annals of the Child Neurology Society · 2023Article
- Kleefstra Syndrome-Dental Manifestations and Needs: A Case Report with a Literature Review.Case reports in dentistry · 2023Article
- Epigenetics and Congenital Heart Diseases.Journal of cardiovascular development and disease · 2022Review
- Structural bioinformatics enhances mechanistic interpretation of genomic variation, demonstrated through the analyses of 935 distinct RAS family mutations.Bioinformatics (Oxford, England) · 2021Article
- Impact of integrated translational research on clinical exome sequencing.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- Molecular causes of sex-specific deficits in rodent models of neurodevelopmental disorders.Journal of neuroscience research · 2021Review
- Interpreting Sequence Variation in PDAC-Predisposing Genes Using a Multi-Tier Annotation Approach Performed at the Gene, Patient, and Cohort Level.Frontiers in oncology · 2021Article
- Characterization of intellectual disability and autism comorbidity through gene panel sequencing.Human mutation · 2019Article
Corrections and comments
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Authors and funding
15 authors at 4 institutions in 1 country.
Funding
Abstract
Kleefstra syndrome (KS) (Mendelian Inheritance in Man (MIM) no. 610253), also known as 9q34 deletion syndrome, is an autosomal dominant disorder caused by haploinsufficiency of euchromatic histone methyltransferase-1 (
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.