• A boy with a progressive neurologic decline harboring two coexisting mutations in KMT2D and VPS13D
• A case of congenital hyperinsulinism presenting with diabetes after long-term diazoxide therapy
• A narrative review on pathogenetic mechanisms of hyperinsulinemic hypoglycemia in Kabuki syndrome
• A novel pathogenic compound heterozygous variant in C12orf57 gene in a child with Temtamy syndrome presenting with overlapping phenotypic features of Kabuki-like syndrome
• Analysis of a case of Kabuki syndrome due to a novel variant of KMT2D gene
• Analysis of genetic variants and clinical manifestations of two children with Kabuki syndrome
• Attention challenges in Kabuki syndrome
• 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
• Biliary Atresia in an Infant Presenting With Kabuki Syndrome: An Autopsy Report and Review of the Literature
• c.4168G>A(p.Ala 1390Thr) Variation in KMT2D Gene Detected in an Ultra-treatment-resistant Schizophrenia Patient: A Case Report and Literature Review
• Case report: Macrophage activation syndrome in a patient with Kabuki syndrome
• Characterizing the molecular impact of KMT2D variants on the epigenetic and transcriptional landscapes in Kabuki syndrome
• Clinical and genetic characteristics of four children with Kabuki syndrome due to de novo variants of KMT2D gene
• Clinical and molecular analysis of Guangxi patients with Kabuki syndrome and <em>KMT2D</em> mutations
• Clinical and molecular characteristics of Kabuki syndrome patients with missense variants-novel features and literature review
• Clinical and molecular characteristics of Korean patients with Kabuki syndrome
• Clinical and Molecular Characterization of Hyperinsulinism in Kabuki Syndrome
• Clinical characteristics and genetic counseling for a three-generation Chinese pedigree with recurrent fetal Kabuki syndrome due to variant of KDM6A gene
• Congenital hyperinsulinemic hypoglycemia (HH) requiring treatment as the presenting feature of Kabuki syndrome
• Congenital hyperinsulinism and novel KDM6A duplications -resolving pathogenicity with genome and epigenetic analyses
• Correction to "Coarctation of the aorta and left ventricular diverticulum in Kabuki syndrome"
• Craniosynostosis in molecularly diagnosed Kabuki syndrome: Prevalence and clinical implications
• CUTTING EDGE TRIO-WGS IN RARE GENETIC SYNDROME DIAGNOSIS
• Diabetes mellitus in Kabuki syndrome 1 on a background of post-transplant diabetes mellitus
• Diagnostic algorithm for neonatal intrahepatic cholestasis integrating single-gene testing and next-generation sequencing in East Asia
• Diazoxide-related Hyperglycemic Hyperosmolar State in a Child With Kabuki Syndrome
• DNA methylation profiling in Kabuki syndrome: reclassification of germline KMT2D VUS and sensitivity in validating postzygotic mosaicism
• Dual rare genetic diseases in five pediatric patients: insights from next-generation diagnostic methods
• Editorial: Characterizing the neurobehavioral phenotype of mendelian disorders of epigenetic machinery
• Epigenetics
• Epigenetics of cognition and behavior: insights from Mendelian disorders of epigenetic machinery
• Episignature analysis of moderate effects and mosaics
• Genetic Spectrum of Congenital Anomalies of the Kidney and Urinary Tract in Chinese Newborn Genome Project
• Genetics, X-Linked Inheritance
• Genomic analysis of Kabuki syndrome with multiple abnormalities in infancy
• GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases
• Growth deficiency in a mouse model of Kabuki syndrome 2 bears mechanistic similarities to Kabuki syndrome 1
• Hearing characteristics and otoradiological abnormalities in three patients with novel pathogenic variants of KMT2D-related Kabuki syndrome
• Human Genetics of Atrial Septal Defect
• Human Genetics of Semilunar Valve and Aortic Arch Anomalies
• Human Genetics of Ventricular Septal Defect
• Identification of a KDM6A somatic mutation responsible for Kabuki syndrome by excluding a conflicting KMT2D germline variant through episignature analysis
• Idiopathic pulmonary hemosiderosis associated with Kabuki syndrome
• Illuminating the Genetic Basis of Congenital Heart Disease in Patients with Kabuki Syndrome
• Immune dysregulation in Kabuki syndrome: a case report of Evans syndrome and hypogammaglobulinemia
• Immunological Aspects of Kabuki Syndrome: A Retrospective Multicenter Study of the Italian Primary Immunodeficiency Network (IPINet)
• Jaw-winking phenomenon in a diabetic patient with Kabuki syndrome
• Kabuki Syndrome
• Kabuki Syndrome
• Kabuki syndrome complicated by severe immune thrombocytopenia and autoimmune thyroiditis: Identification of a novel pathogenic mutation
• Ketogenic diet modifies ribosomal protein dysregulation in KMT2D Kabuki syndrome
• KMT2D Deficiency Causes Sensorineural Hearing Loss in Mice and Humans
• KMT2D regulates activation, localization, and integrin expression by T-cells
• Knockdown of Kmt2d leads to growth impairment by activating the Akt/β-catenin signaling pathway
• 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
• May the force be with you: Nuclear condensates function beyond transcription control: Potential nongenetic functions of nuclear condensates in physiological and pathological conditions
• Molecular insights of KMT2D and clinical aspects of Kabuki syndrome type 1
• Neonatal Kabuki syndrome caused by KMT2D mutation: A case report
• Neuron-specific chromatin disruption at CpG islands and aging-related regions in Kabuki syndrome mice
• Neuron-specific chromatin disruption at CpG islands and aging-related regions in Kabuki syndrome mice
• Newly recognized orbital malformations in kabuki syndrome: A case report
• Next generation phenotyping for diagnosis and phenotype-genotype correlations in Kabuki syndrome
• Nonimmune Hydrops and Left-Sided Cardiac Defect: Prenatal Presentation of Kabuki Syndrome
• Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes
• Peripheral blood DNA methylation and neuroanatomical responses to HDACi treatment that rescues neurological deficits in a Kabuki syndrome mouse model
• Persistent Hypoglycemia and Hyperinsulinism in a Patient With <em>KMT2D-</em>Associated Kabuki Syndrome
• Primary CNS Burkitt Lymphoma Presenting as Sudden Bilateral Blindness in a Patient With Underlying Kabuki Syndrome: A Case Report
• Pulmonary hypertension- a novel phenotypic hypothesis of Kabuki syndrome: a case report and literature review
• Recognition of Genetic Conditions After Learning With Images Created Using Generative Artificial Intelligence
• SETting up the genome: KMT2D and KDM6A genomic function in the Kabuki syndrome craniofacial developmental disorder
• Sex-specific difference in phenotype of Kabuki syndrome type 2 patients: a matched case-control study
• Somatic mutations of MLL4/COMPASS induce cytoplasmic localization providing molecular insight into cancer prognosis and treatment
• Success and Pitfalls of Genetic Testing in Undiagnosed Diseases: Whole Exome Sequencing and Beyond
• Syndromic forms of congenital hyperinsulinism
• Systemic and oral abnormalities in Kabuki syndrome: a case series
• The incremental yield of prenatal exome sequencing over chromosome microarray for congenital heart abnormalities: A systematic review and meta-analysis
• Treatment of immune thrombocytopenia with hetrombopag olamine tablets in a Kabuki syndrome patient with new KMT2D mutations
• Two novel and <em>de novo</em> KMT2D mutations on the same allele cause Kabuki syndrome
• Type A Aortic Dissection in a 24-Year-Old Patient With Kabuki Syndrome
• Unmasking the challenges of Kabuki syndrome in adulthood: A case series