Congenital Corneal Staphyloma in an Asian Infant With Kabuki Syndrome Confirmed by a KMT2D Mutation.

An unusual case of Kabuki Syndrome with retinal ischaemia and neovascular glaucoma.

A novel KDM6A c.2429dup mutation causing kabuki syndrome type 2 identified in a fetus with increased nuchal translucency.

A Diagnostic Dilemma: Concurrent Diagnosis of Cystic Fibrosis and Definitive Kabuki Syndrome Type 1.

Deciphering the Genetic Basis of Congenital Vertebral Malformations Through a Stepwise Diagnostic Approach.

Giant ascending aortic aneurysm in a 2-year-old child with Kabuki syndrome: A rare cardiovascular pathology and successful surgical repair.

A case of Kabuki syndrome with congenital pulmonary airway malformation.

Clinical Presentation and Molecular Characteristics of Kabuki Syndrome With Congenital Hyperinsulinism: A Retrospective Study.

Identification of Novel and Known Variants in Epigenetic Genes Associated with Syndromic 46,XY Differences of Sex Development among Moroccan Patients.

Proximal Junctional Kyphosis Following Spinal Thoracic Deformity Correction in a Patient with Kabuki Syndrome: A Case Report.

HNF1B-related diabetes mellitus in a Korean patient with Kabuki syndrome: a case report and literature review.

Mutations in histone lysine methyltransferase genes are associated with autoimmune cytopenias: a single-center study.

A certain set of signs that could be compatible with Kabuki syndrome: a case report of an Iranian girl and review of literature.

Role of histone-lysine N-methyltransferase 2D (KMT2D) in MEK-ERK signaling-mediated epigenetic regulation: a phosphoproteomics perspective.

Joint profiling of cell morphology and gene expression during in vitro neurodevelopment.

Increased risk for severe peripheral arterial disease in Kabuki syndrome.

Juvenile idiopathic arthritis associated with Kabuki syndrome: A case report.

Analysis of the clinical features of neurocristopathy-related hearing loss and how these relate to outcomes after cochlear implantation.

Butyrate modifies epigenetic and immune pathways in peripheral mononuclear cells from children with neurodevelopmental disorders associated with chromatin dysregulation.

RareLink: scalable REDCap-based framework for rare disease interoperability linking international registries to FHIR and Phenopackets.

Clinical Feasibility of Long-Read WGS for DNA Methylation Signature Analysis.

Towards Characterizing the Developmental and Behavioral Profiles of ODLURO Syndrome: Shared Features With Wiedemann-Steiner Syndrome and Kabuki Syndrome.

[Prenatal ultrasound and genetic characteristics of fetuses with Kabuki syndrome: A report of six cases and literature review].

Clinical and molecular findings of KMT2D-related Kabuki syndrome: A series of 13 patients with 3 novel variants.

The role of the lysine histone methylase KMT2D in chronic myeloid leukemia.

Epigenome and transcriptome changes in KMT2D-related Kabuki syndrome Type 1 iPSCs, neuronal progenitors and cortical neurons.

Human Neuron and Mouse Models Reveal Synaptic Imbalance in Kabuki Syndrome.

Deficiency of KMT2D causes autistic-like behavior in mice and zebrafish.

Ptip and the Trr-COMPASS-like Complex Regulate Cardiac Progenitor Cell Division in the Drosophila Embryonic Heart Tube.

A rare case of parachute mitral valve and dual drainage of the left upper pulmonary vein in a patient with Kabuki syndrome.

Pilomatricoma in Syndromic Contexts: A Literature Review and a Report of a Case in Apert Syndrome.

The Kabuki Syndrome in 18 F-FDG-PET/CT.

Academic Learning Profiles Across Disorders of KMT2 Gene Family: Superimposed and Distinct Features Across Kabuki, Wiedemann-Steiner and ODLURO Syndromes.

Fistulograms for the management of recurrent and atypical congenital neck anomalies.

Delineating the Cognitive Profile of ODLURO Syndrome: Emergent Clues on the Endophenotype Across KMT2 Disorders.

KMT2C and KMT2D regulate skeletal development through stage-specific epigenetic control of chondrogenesis.

A novel KMT2D gene variant c.6341del (p.Gly2114Alafs*30) and its phenotypic presentation in a Hispanic-Mexican woman with Kabuki syndrome: A case report.

A Comparison of Speech Outcomes Among Patients With Syndromic Cleft Palate: A 20-year Review.

Syndromic variants of biliary atresia.

Novel KMT2D pathogenic variant causing Kabuki Syndrome with associated macular abnormalities and retinopathy of prematurity.

Long-term kidney outcomes in patients with Kabuki syndrome.

Immune thrombocytopenia in Kabuki syndrome, a comparison with non-Kabuki cases in the UK paediatric ITP registry.

Linking international registries to FHIR and Phenopackets with RareLink: a scalable REDCap-based framework for rare disease data interoperability.

A KDM6 A variant in a Chinese female patient with diabetes mellitus and oligomenorrhea: a case report.

A Novel Intronic Variant in the KH3 Domain of HNRNPK Leads to a Mild Form of Au-Kline Syndrome.

Reverse genotyping: unveiling Alu element insertion as a new cause of Kabuki syndrome using DNA methylation signature.

Kabuki Syndrome With Cardiac Manifestations: A Case Report and Mini-Literature Review From the United Arab Emirates (UAE).

The role of chromatin-related epigenetic modulations in CAKUT.

Trio Exome Sequencing in VACTERL Association.

Behavioural impairments in a mouse model of Kabuki syndrome associated with dopaminergic and neuroinflammatory modulations.

A Study of Speech Surgery Procedures at Mater Dei Hospital, Malta.

[Kabuki syndrome caused by pathogenic variants in the KMT2D gene: report of two cases].

Clinical delineation and genotype-phenotype correlation in 104 children with kabuki syndrome: A single-center, cross-sectional and follow-up study in China.

Case Report: Area of focus clinical presentation and KMT2D gene mutation at the c.15535C>T site in a case of Kabuki syndrome.

KMT2D Regulates Tooth Enamel Development.

Immunoglobulin A Nephropathy in a Kidney Transplant Recipient with Kabuki Syndrome.

Epileptic spasms and RNA analysis in a new case of Kabuki syndrome type 2.

KMT2D: A key emerging epigenetic regulator in head and neck diseases and tumors.

Kabuki patients with CHDs: outcomes after cardiac surgery.

Kabuki and CHARGE syndromes: overlapping symptoms and diagnostic challenges.

Clinical Characteristics of Patients With Kabuki Syndrome at a Single Tertiary Children's Hospital.

MLL4 regulates postnatal palate growth and midpalatal suture development.

Kabuki Syndrome: Case Report of Severe Prenatal Midface Hypoplasia (Binder Phenotype), due to a Novel Variant in the KMT2D Gene.

Kabuki Syndrome and Charcot-Marie-Tooth Disease Co-Occurrence: Unique Case with Novel Variant.

Animal models of Kabuki syndrome and their applicability to novel drug discovery.

Case report: Kabuki syndrome and persistent hypoglycemia in neonates.

[Clinical and genetic characteristics analysis of two children with comorbidity of two rare genetic diseases].

Kabuki Syndrome With Hyperinsulinemic Hypoglycemia and Cholestasis in an Infant.

KDM6A facilitates Xist upregulation at the onset of X inactivation.

Congenital hyperinsulinism in the Ukraine: a 10-year national study.

Kabuki syndrome: a comprehensive clinical portrait and genetic insight.

Oculoplastic Operative Considerations for Kabuki Syndrome: A Case Report and Review of the Literature.

Higher order interaction analysis quantifies coordination in the epigenome revealing novel biological relationships in Kabuki syndrome.

Cerebral inflammation in a patient with Kabuki syndrome.

Comprehensive Clinical and Genetic Characterization of Kabuki Syndrome: A Case Series Study.

Case report of kabuki syndrome in a newborn caused by KMT2D gene mutation.

Automated fingerprint analysis as a diagnostic tool for the genetic disorder Kabuki syndrome.

Non-invasive prenatal detection of dominant single-gene disorders in fetal structural abnormalities: a clinical feasibility study.

Quantifying neurobehavioral profiles across neurodevelopmental genetic syndromes and idiopathic neurodevelopmental disorders.

Desipramine reverses remote memory deficits by activating calmodulin-CaMKII pathway in a UTX knockout mouse model of Kabuki syndrome.

Kabuki syndrome associated with type 1 diabetes mellitus: report of three cases.

A Syndrome Affecting All Five Sense Organs: A Rare Congenital Disorder of Kabuki Makeup Syndrome With Multiple Pre-auricular Skin Tags.

Extremely Low Birth Weight Infant (Gestational Age of 29 Weeks) With Kabuki Syndrome Type I: Case Report and Literature Review.

Whole exome sequencing in patients with childhood-onset systemic lupus erythematosus: Results from a Croatian national study.

KMT2D deficiency leads to cellular developmental disorders and enhancer dysregulation in neural-crest-containing brain organoids.

Surgical management of congenital mitral stenosis in a patient with Kabuki syndrome.

Abnormal Immune Profile in Individuals with Kabuki Syndrome.

Genetic and Phenotypic Spectrum of KMT2D Variants in Taiwanese Case Series of Kabuki Syndrome.

Serous-Exudative Detachment and Progressive Macular Degeneration in a Patient With Kabuki and Marfan Syndrome.

Jaw-winking phenomenon in a diabetic patient with Kabuki syndrome.

Case report: Macrophage activation syndrome in a patient with Kabuki syndrome.

Clinical and molecular characteristics of Kabuki syndrome patients with missense variants-novel features and literature review.

A case of congenital hyperinsulinism presenting with diabetes after long-term diazoxide therapy.

Primary CNS Burkitt Lymphoma Presenting as Sudden Bilateral Blindness in a Patient With Underlying Kabuki Syndrome: A Case Report.

Congenital Hyperinsulinism and Novel KDM6A Duplications -Resolving Pathogenicity With Genome and Epigenetic Analyses.

Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes.

Diazoxide-related Hyperglycemic Hyperosmolar State in a Child With Kabuki Syndrome.

Idiopathic pulmonary hemosiderosis associated with Kabuki syndrome.

GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.

Human Genetics of Semilunar Valve and Aortic Arch Anomalies.

Human Genetics of Ventricular Septal Defect.

Human Genetics of Atrial Septal Defect.

Clinical and Molecular Characterization of Hyperinsulinism in Kabuki Syndrome.

Growth deficiency in a mouse model of Kabuki syndrome 2 bears mechanistic similarities to Kabuki syndrome 1.

Clinical and molecular characteristics of Korean patients with Kabuki syndrome.

Nonimmune Hydrops and Left-Sided Cardiac Defect: Prenatal Presentation of Kabuki Syndrome.

Ketogenic diet modifies ribosomal protein dysregulation in KMT2D Kabuki syndrome.

KMT2D regulates activation, localization, and integrin expression by T-cells.

The incremental yield of prenatal exome sequencing over chromosome microarray for congenital heart abnormalities: A systematic review and meta-analysis.

Neuron-specific chromatin disruption at CpG islands and aging-related regions in Kabuki syndrome mice.

[Clinical and genetic characteristics of four children with Kabuki syndrome due to de novo variants of KMT2D gene].

Immunological Aspects of Kabuki Syndrome: A Retrospective Multicenter Study of the Italian Primary Immunodeficiency Network (IPINet).

Illuminating the Genetic Basis of Congenital Heart Disease in Patients with Kabuki Syndrome.

Newly recognized orbital malformations in kabuki syndrome: A case report.

Dual rare genetic diseases in five pediatric patients: insights from next-generation diagnostic methods.

Kabuki syndrome complicated by severe immune thrombocytopenia and autoimmune thyroiditis: Identification of a novel pathogenic mutation.

Systemic and oral abnormalities in Kabuki syndrome: a case series.

DNA methylation profiling in Kabuki syndrome: reclassification of germline KMT2D VUS and sensitivity in validating postzygotic mosaicism.

Recognition of Genetic Conditions After Learning With Images Created Using Generative Artificial Intelligence.

[Analysis of a case of Kabuki syndrome due to a novel variant of KMT2D gene].

Autoimmune cytopenia and Kabuki syndrome in paediatrics: Insights in 11 patients.

Biallelic OTUD6B variants associated with a Kabuki syndrome-like disorder in three siblings: A clinical report and literature review.

Sex-specific difference in phenotype of Kabuki syndrome type 2 patients: a matched case-control study.

Diagnostic algorithm for neonatal intrahepatic cholestasis integrating single-gene testing and next-generation sequencing in East Asia.

Diabetes mellitus in Kabuki syndrome 1 on a background of post-transplant diabetes mellitus.

Next generation phenotyping for diagnosis and phenotype-genotype correlations in Kabuki syndrome.

Knockdown of Kmt2d leads to growth impairment by activating the Akt/β-catenin signaling pathway.

KMT2D Deficiency Causes Sensorineural Hearing Loss in Mice and Humans.

Type A Aortic Dissection in a 24-Year-Old Patient With Kabuki Syndrome.

Macular dystrophy in Kabuki syndrome due to de novo KMT2D variants: refining the phenotype with multimodal imaging and follow-up over 10 years: insight into pathophysiology.

[Clinical characteristics and genetic counseling for a three-generation Chinese pedigree with recurrent fetal Kabuki syndrome due to variant of KDM6A gene].

Neonatal Kabuki syndrome caused by KMT2D mutation: A case report.

Somatic mutations of MLL4/COMPASS induce cytoplasmic localization providing molecular insight into cancer prognosis and treatment.

c.4168G>A(p.Ala 1390Thr) Variation in KMT2D Gene Detected in an Ultra-treatment-resistant Schizophrenia Patient: A Case Report and Literature Review.

Genetic Spectrum of Congenital Anomalies of the Kidney and Urinary Tract in Chinese Newborn Genome Project.

Attention challenges in Kabuki syndrome.

Hearing characteristics and otoradiological abnormalities in three patients with novel pathogenic variants of KMT2D-related Kabuki syndrome.

Persistent Hypoglycemia and Hyperinsulinism in a Patient With KMT2D-Associated Kabuki Syndrome.

Peripheral blood DNA methylation and neuroanatomical responses to HDACi treatment that rescues neurological deficits in a Kabuki syndrome mouse model.

Craniosynostosis in molecularly diagnosed Kabuki syndrome: Prevalence and clinical implications.

Clinical and molecular analysis of Guangxi patients with Kabuki syndrome and KMT2D mutations.

Genomic analysis of Kabuki syndrome with multiple abnormalities in infancy.

SETting up the genome: KMT2D and KDM6A genomic function in the Kabuki syndrome craniofacial developmental disorder.

Pulmonary hypertension- a novel phenotypic hypothesis of Kabuki syndrome: a case report and literature review.

Treatment of immune thrombocytopenia with hetrombopag olamine tablets in a Kabuki syndrome patient with new KMT2D mutations.

A boy with a progressive neurologic decline harboring two coexisting mutations in KMT2D and VPS13D.

[Two novel and de novo KMT2D mutations on the same allele cause Kabuki syndrome].

May the force be with you: Nuclear condensates function beyond transcription control: Potential nongenetic functions of nuclear condensates in physiological and pathological conditions.

Fetal Phenotype and Prenatal Diagnosis of Kabuki Syndrome.

Identification of a KDM6A somatic mutation responsible for Kabuki syndrome by excluding a conflicting KMT2D germline variant through episignature analysis.

Success and Pitfalls of Genetic Testing in Undiagnosed Diseases: Whole Exome Sequencing and Beyond.

[Analysis of genetic variants and clinical manifestations of two children with Kabuki syndrome].

Episignature analysis of moderate effects and mosaics.

Immune dysregulation in Kabuki syndrome: a case report of Evans syndrome and hypogammaglobulinemia.

Unmasking the challenges of Kabuki syndrome in adulthood: A case series.

A narrative review on pathogenetic mechanisms of hyperinsulinemic hypoglycemia in Kabuki syndrome.

Congenital hyperinsulinemic hypoglycemia (HH) requiring treatment as the presenting feature of Kabuki syndrome.

Epigenetics of cognition and behavior: insights from Mendelian disorders of epigenetic machinery.

Molecular insights of KMT2D and clinical aspects of Kabuki syndrome type 1.

CUTTING EDGE TRIO-WGS IN RARE GENETIC SYNDROME DIAGNOSIS.

Syndromic forms of congenital hyperinsulinism.

Characterizing the molecular impact of KMT2D variants on the epigenetic and transcriptional landscapes in Kabuki syndrome.

Biliary Atresia in an Infant Presenting With Kabuki Syndrome: An Autopsy Report and Review of the Literature.

Insights into the genotype-phenotype relationship of ocular manifestations in Kabuki syndrome.

Solitary median maxillary central incisor in Kabuki syndrome 2 with novel missense mutation of KDM6A and ABCC8 genes.

Autoimmune cytopenia in a Korean pediatric patient with Kabuki syndrome treated with sirolimus.

Vitiligo in a Patient With Kabuki Syndrome: Case Study and Review of the Literature.

[A case of Kabuki syndrome featuring biliary atresia due to KMT2D gene variation].

[Analysis of clinical features and genetic variant in a neonate with Au-Kline syndrome due to a de novo variant of the HNRNPK gene].

DNA methylation signature classification of rare disorders using publicly available methylation data.

Xp11.3 microdeletion causing Norrie disease and X-linked Kabuki syndrome.

Insights into the perinatal phenotype of Kabuki syndrome in infants identified by genome-wide sequencing.

High molecular diagnostic yields and novel phenotypic expansions involving syndromic anorectal malformations.

Unique profile of academic learning difficulties in Wiedemann-Steiner syndrome.

Prenatal Phenotype of Kabuki Syndrome: Seven Case Series.

UTX deficiency in neural stem/progenitor cells results in impaired neural development, fetal ventriculomegaly, and postnatal death.

OMIXCARE: OMICS technologies solved about 33% of the patients with heterogeneous rare neuro-developmental disorders and negative exome sequencing results and identified 13% additional candidate variants.

[Congenital hyperinsulinism as a part of Kabuki syndrome].

Genetic examination for fetuses with increased nuchal translucency by exome sequencing.

From Genotype to Phenotype-A Review of Kabuki Syndrome.

Neurobehavioral phenotype of Kabuki syndrome: Anxiety is a common feature.

Identification of unique DNA methylation sites in Kabuki syndrome using whole genome bisulfite sequencing and targeted hybridization capture followed by enzymatic methylation sequencing.

An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.

Investigation of genetic and phenotypic heterogeneity in 37 Turkish patients with Kabuki and Kabuki-like phenotype.

Case report: A study on the de novo KMT2D variant of Kabuki syndrome with Goodpasture's syndrome by whole exome sequencing.

Survey on experiences and attitudes of parents toward disclosing information to children with genetic syndromes and their siblings in Japan.

Individuals with Wiedemann-Steiner syndrome show nonverbal reasoning and visuospatial defects with relative verbal skill sparing.

Systemic Presentation of Somatic TET2 Mutated B-Cell Lymphoma in a Child With Kabuki Syndrome and a Germline KMT2D Variant.

Partial Anomalous Left Pulmonary Artery Anterior Versus Posterior Types: A Systematic Review.

Single-Cell Transcriptome Analysis Defines Expression of Kabuki Syndrome-Associated KMT2D Targets and Interacting Partners.