• 9q34.3 microduplications lead to neurodevelopmental disorders through EHMT1 overexpression
• A complex structural variant near <em>SOX3</em> causes X-linked split-hand/foot malformation
• A Korean male with Kleefstra syndrome presented with micropenis
• A long noncoding RNA cluster-based genomic locus maintains proper development and visual function
• A Multi-Layered Computational Structural Genomics Approach Enhances Domain-Specific Interpretation of Kleefstra Syndrome Variants in EHMT1
• A multi-layered computational structural genomics approach enhances domain-specific interpretation of Kleefstra syndrome variants in EHMT1
• A novel 11 base pair deletion in KMT2C resulting in Kleefstra syndrome 2
• Alternative transcripts in variant interpretation: the potential for missed diagnoses and misdiagnoses
• Anatomy of DNA methylation signatures: Emerging insights and applications
• Anesthetic Management of an Infant With Kleefstra Syndrome During Direct Laryngoscopy and Rigid Bronchoscopy: A Case Report
• Arrhythmias including atrial fibrillation and congenital heart disease in Kleefstra syndrome: a possible epigenetic link
• Case Report: Long-Term Treatment and Follow-Up of Kleefstra Syndrome-2
• Cell consequences of loss of function of the epigenetic factor EHMT1
• Chromosomal microarray analysis in fetuses with an isolated congenital heart defect: A retrospective, nationwide, multicenter study in France
• Clinical and genetic analysis of three children patients with Kleefstra syndrome
• Clinical phenotypes and molecular findings in ten Chinese patients with Kleefstra Syndrome Type 1 due to EHMT1 defects
• Clinical, genetic, epidemiologic, evolutionary, and functional delineation of <em>TSPEAR</em>-related autosomal recessive ectodermal dysplasia 14
• Cognitive Phenotype and Psychopathology in Noonan Syndrome Spectrum Disorders through Various Ras/MAPK Pathway Associated Gene Variants
• Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome
• CRISPR single base editing, neuronal disease modelling and functional genomics for genetic variant analysis: pipeline validation using Kleefstra syndrome EHMT1 haploinsufficiency
• DDX3X Syndrome: Summary of Findings and Recommendations for Evaluation and Care
• De Novo Mutation in KMT2C Manifesting as Kleefstra Syndrome 2: Case Report and Literature Review
• Deep computational phenotyping of genomic variants impacting the SET domain of KMT2C reveal molecular mechanisms for their dysfunction
• Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature
• Defensive and offensive behaviours in a Kleefstra syndrome mouse model
• Derepression of inflammation-related genes link to microglia activation and neural maturation defect in a mouse model of Kleefstra syndrome
• Detection of germline mosaicism in fathers of children with intellectual disability syndromes caused by de novo variants
• Distinct Pathogenic Genes Causing Intellectual Disability and Autism Exhibit a Common Neuronal Network Hyperactivity Phenotype
• DNA methylation episignature for Witteveen-Kolk syndrome due to SIN3A haploinsufficiency
• Editorial: Treatment of psychopathological and neurocognitive disorders in genetic syndromes: In need of multidisciplinary phenotyping and treatment design
• EHMT1 regulates Parvalbumin-positive interneuron development and GABAergic input in sensory cortical areas
• Electroclinical Features of Epilepsy in Kleefstra Syndrome
• Epilepsy is an important feature of KBG syndrome associated with poorer developmental outcome
• Erratum: Derepression of inflammation-related genes link to microglia activation and neural maturation defect in a mouse model of Kleefstra syndrome
• Expanding the phenotype of Kleefstra syndrome: speech, language and cognition in 103 individuals
• Fetal valproate syndrome as a phenocopy of Kleefstra syndrome
• First episode of psychosis in Kleefstra syndrome: a case report
• Functional validation of variants of unknown significance using CRISPR gene editing and transcriptomics: A Kleefstra syndrome case study
• Genetic analysis of a family with 9q34.3 microdeletion and microduplication caused by abnormal chromosome balance structure
• Genetic analysis of three patients with Kleefstra syndrome
• Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant
• Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohort
• Genotype-phenotype correlations in a fetus with Kleefstra syndrome
• Growth, body composition, and endocrine-metabolic profiles of individuals with Kleefstra syndrome provide directions for clinical management and translational studies
• Histone 4 Lysine 20 Methylation: A Case for Neurodevelopmental Disease
• Histone-lysine N-methyltransferase 2 (KMT2) complexes - a new perspective
• Human Genetics of Ventricular Septal Defect
• Hypogonadotropic Hypogonadism and Kleefstra Syndrome due to a Pathogenic Variant in the EHMT1 Gene: An Underrecognized Association
• Identification of a Rare Novel KMT2C Mutation That Presents with Schizophrenia in a Multiplex Family
• Impairments in sensory-motor gating and information processing in a mouse model of <em>Ehmt1</em> haploinsufficiency
• Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome
• Kleefstra Syndrome
• Kleefstra syndrome 1 and ring chromosome 9 in a case
• Kleefstra syndrome presenting as pulmonary atresia with intact ventricular septum diagnosed prenatally at 16 weeks using four-dimensional spatiotemporal image correlation
• Kleefstra syndrome presenting as pulmonary atresia with intact ventricular septum diagnosed prenatally at 16 weeks with 4D STIC
• Kleefstra Syndrome with Severe Sensory Neural Deafness and &lt;em&gt;De Novo&lt;/em&gt; Novel Mutation
• Kleefstra Syndrome with Severe Sensory Neural Deafness and <em>De Novo</em> Novel Mutation
• Kleefstra Syndrome-Dental Manifestations and Needs: A Case Report with a Literature Review
• Kleefstra syndrome: Impact on parents
• Kleefstra syndrome: Recurrence in siblings due to a paternal mosaic mutation
• KMT2C knockout generates ASD-like behaviors in mice
• KMT2C/D COMPASS complex-associated diseases [K_CDCOM-ADs]: an emerging class of congenital regulopathies
• Loss-of-function variants in the schizophrenia risk gene SETD1A alter neuronal network activity in human neurons through the cAMP/PKA pathway
• Measuring Adaptive Behavior in Patients with Mendelian Neurodevelopmental Disorders. Comparison of ABAS-3 and Dutch Vineland Scales
• Mind the gap: the relevance of the genome reference to resolve rare and pathogenic inversions
• Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes
• Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein
• MLPA analysis of 32 foetuses with a congenital heart defect and 1 foetus with renal defects - pilot study. The significant frequency rate of presented pathological CNV
• Multiple copy number variation in a patient with Kleefstra syndrome
• Multiple Mongolian spots in an individual with Kleefstra syndrome caused by a novel nonsense euchromatin histone methyltransferase 1 variant
• Neuronal network dysfunction in a model for Kleefstra syndrome mediated by enhanced NMDAR signaling
• New Insights into Kleefstra Syndrome: Report of Two Novel Cases with Previously Unreported Features and Literature Review
• Novel germline variants in <em>KMT2C</em> in Chinese patients with Kleefstra syndrome-2
• Novel germline variants in KMT2C in Chinese patients with Kleefstra syndrome-2
• NRSF/REST lies at the intersection between epigenetic regulation, miRNA-mediated gene control and neurodevelopmental pathways associated with Intellectual disability (ID) and Schizophrenia
• Occupational Therapy in Kleefstra Syndrome
• Olfactory Malformations in Mendelian Disorders of the Epigenetic Machinery
• Otopathology in Kleefstra Syndrome: A Case Report
• Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes
• PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework
• Posterior thoracolumbar fusion in a patient with Kleefstra Syndrome related scoliosis: The first case reported
• POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum
• Precise definition of the breakpoints of an apparently balanced translocation between chromosome 3q26 and chromosome 7q36: Role of KMT2C disruption
• Psychiatric manifestations of Kleefstra syndrome: a case report
• Psychosis and autism without functional regression in a patient with Kleefstra syndrome
• Pulmonary hypertension in patients with 9q34.3 microdeletion-associated Kleefstra syndrome
• Refining the 9q34.3 microduplication syndrome reveals mild neurodevelopmental features associated with a distinct global DNA methylation profile
• Shone's complex in a patient with chromosome 9q34.3 deletion (Kleefstra syndrome)
• Soma-to-germline transformation in chromatin-linked neurodevelopmental disorders?
• Success and Pitfalls of Genetic Testing in Undiagnosed Diseases: Whole Exome Sequencing and Beyond
• Syndromic and non-syndromic etiologies causing neonatal hypocalcemic seizures
• The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder
• The first Brazilian clinical report of Kleefstra syndrome, including semicircular canals agenesis as a possible phenotype expansion
• The Object Space Task reveals increased expression of cumulative memory in a mouse model of Kleefstra syndrome
• The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8
• The role of the gut microbiota in patients with Kleefstra syndrome
• Tibialis Anterior and Posterior Tendon Transfer for Clubfoot Relapse in a Child with Duchenne Muscular Dystrophy: A Case Report
• Tourette-like syndrome secondary to Kleefstra syndrome 1 with a de novo microdeletion in the EHMT1 gene
• Transcriptomic dysregulation and autistic-like behaviors in Kmt2c haploinsufficient mice rescued by an LSD1 inhibitor
• WDR5-HOTTIP Histone Modifying Complex Regulates Neural Migration and Dendrite Polarity of Pyramidal Neurons via Reelin Signaling