ReviewGenes2022
From Genotype to Phenotype-A Review of Kabuki Syndrome.
Review in Genes, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers.
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
34 citing papers in PubMed, 60 citations in OpenAlex.
- Reduced dosage of Kmt2d modifies Tbx1 haploinsufficiency toward phenotypes of 22q11.2DS.JCI insight · 2026Article
- Multiscale Convergence of Signaling, Epigenetic, and Environmental Networks in Mammalian Palatogenesis and Cleft Palate Pathogenesis.International journal of stem cells · 2026Review
- Review
- When Rarity Hits Twice: Hemophagocytic Lymphohistiocytosis in Kabuki Syndrome-A Case Report From Palestine.Clinical case reports · 2026Article
- Addressing the diagnostic gap through deep phenotyping.Human genomics · 2026Article
- A rare cause of liver cirrhosis in an adult.Gastroenterology report · 2026Article
- Histone acetylation and methylation in rare diseases: from molecular mechanisms to clinical presentations.Frontiers in cell and developmental biology · 2026Review
- [Van Wyk-Grombach syndrome as a result of late diagnosis of autoimmune thyroiditis (ait) in a patient with chromosome 22 deletion syndrome. Description of the clinical case and a brief review of the literature].Problemy endokrinologii · 2025Review
- HNF1B-related diabetes mellitus in a Korean patient with Kabuki syndrome: a case report and literature review.Annals of pediatric endocrinology & metabolism · 2025Article
- Long-term kidney outcomes in patients with Kabuki syndrome.Pediatric nephrology (Berlin, Germany) · 2025Article
- Congenital Hyperinsulinism and Novel KDM6A Duplications -Resolving Pathogenicity With Genome and Epigenetic Analyses.The Journal of clinical endocrinology and metabolism · 2025Article
- Molecular Regulation of Palatogenesis and Clefting: An Integrative Analysis of Genetic, Epigenetic Networks, and Environmental Interactions.International journal of molecular sciences · 2025Review
- Kabuki Syndrome: Case Report of Severe Prenatal Midface Hypoplasia (Binder Phenotype), due to a Novel Variant in theMolecular syndromology · 2025Article
- Case Report: Area of focus clinical presentation and KMT2D gene mutation at the c.15535C>T site in a case of Kabuki syndrome.Frontiers in genetics · 2025Article
- Two-dimensional and three-dimensional ultrasonographic diagnosis of congenital auricular anomalies.Frontiers in medicine · 2025Article
- Clinical and molecular characteristics of Korean patients with Kabuki syndrome.Journal of human genetics · 2024Article
- Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes.American journal of human genetics · 2024Article
- Role of histone methyltransferase KMT2D in BMSC osteogenesis via AKT signaling.Regenerative therapy · 2024Article
- Clinical and Molecular Characterization of Hyperinsulinism in Kabuki Syndrome.Journal of the Endocrine Society · 2024Article
- BAP1 is required prenatally for differentiation and maintenance of postnatal murine enteric nervous system.The Journal of clinical investigation · 2024Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 6 institutions in 1 country.
Funding
Abstract
Kabuki syndrome (KS) is a rare neuro-developmental disorder caused by variants in genes of histone modification, including
Indexed as
Identifiers
What Socratic 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 Socratic graph.