• A <em>de novo</em> missense variant in <em>EZH1</em> associated with developmental delay exhibits functional deficits in <em>Drosophila melanogaster</em>
• A de novo missense variant in EZH1 associated with developmental delay exhibits functional deficits in Drosophila melanogaster
• A mouse model of Weaver syndrome displays overgrowth and excess osteogenesis reversible with KDM6A/6B inhibition
• A novel EZH2 gene variant in a case of Weaver syndrome with postaxial polydactyly
• A novel mutation in EED associated with overgrowth
• A patient with the Weaver syndrome in Puerto Rico: a case report
• A PNPLA8 frameshift variant in Australian shepherd dogs with hereditary ataxia
• Acute lymphoblastic leukemia in Weaver syndrome
• Allosteric Activation Dictates PRC2 Activity Independent of Its Recruitment to Chromatin
• An unusual splice defect in the mitofusin 2 gene (MFN2) is associated with degenerative axonopathy in Tyrolean Grey cattle
• Anesthetic management of a patient with Weaver syndrome undergoing emergency evacuation of extra-dural hematoma: A case report and review of the literature
• Approach to the Patient With Pseudoacromegaly
• Array-based comparative genomic hybridization identifies a high frequency of copy number variations in patients with syndromic overgrowth
• Biallelic loss-of-function variants of EZH1 cause a novel developmental disorder with central precocious puberty
• Camptodactyly in Sotos syndrome
• Cervical spine anomalies and tumors in Weaver syndrome
• Clinical and molecular overlap in overgrowth syndromes
• Clinical Case of Mild Tatton-Brown-Rahman Syndrome Caused by a Nonsense Variant in <em>DNMT3A</em> Gene
• Clinically suspected anaphylaxis induced by sugammadex in a patient with Weaver syndrome undergoing restrictive mammoplasty surgery: A case report with the literature review
• Co-occurrence of a maternally inherited <em>DNMT3A</em> duplication and a paternally inherited pathogenic variant in <em>EZH2</em> in a child with growth retardation and severe short stature: atypical Weaver syndrome or evidence of
• Co-occurrence of a maternally inherited DNMT3A duplication and a paternally inherited pathogenic variant in EZH2 in a child with growth retardation and severe short stature: atypical Weaver syndrome or evidence of a DNMT3A dosage effect?
• Commentary: Posteromedial Hypothalamic Deep Brain Stimulation for Refractory Aggressiveness in a Patient With Weaver Syndrome: Clinical, Technical Report and Operative Video
• Commentary: Posteromedial Hypothalamic Deep Brain Stimulation for Refractory Aggressiveness in a Patient With Weaver Syndrome: Clinical, Technical Report, and Operative Video
• Confirmation of a non-synonymous SNP in PNPLA8 as a candidate causal mutation for Weaver syndrome in Brown Swiss cattle
• Correction: Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height
• Delayed diagnosis of cervical myelopathy in an adult with Weaver syndrome
• DMRscaler: a scale-aware method to identify regions of differential DNA methylation spanning basepair to multi-megabase features
• DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes
• EED and EZH2 constitutive variants: A study to expand the Cohen-Gibson syndrome phenotype and contrast it with Weaver syndrome
• Epigenetic Causes of Overgrowth Syndromes
• Expanding the Phenotypic and Genotypic Spectrum of Weaver Syndrome: A Missense Variant of the EZH2 Gene
• EZH1 and EZH2 promote skeletal growth by repressing inhibitors of chondrocyte proliferation and hypertrophy
• EZH2 mutation in an adolescent with Weaver syndrome developing acute myeloid leukemia and secondary hemophagocytic lymphohistiocytosis
• Ezh2 Mutations Found in the Weaver Overgrowth Syndrome Cause a Partial Loss of H3K27 Histone Methyltransferase Activity
• Fine mapping for Weaver syndrome in Brown Swiss cattle and the identification of 41 concordant mutations across NRCAM, PNPLA8 and CTTNBP2
• Further delineation of Malan syndrome
• Generation of DNA Methylation Signatures and Classification of Variants in Rare Neurodevelopmental Disorders Using EpigenCentral
• Genetics of obesity and overgrowth syndromes
• Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height
• H3 K27M and EZHIP Impede H3K27-Methylation Spreading by Inhibiting Allosterically Stimulated PRC2
• High Yield of Pathogenic Germline Mutations Causative or Likely Causative of the Cancer Phenotype in Selected Children with Cancer
• Histone H3 tail binds a unique sensing pocket in EZH2 to activate the PRC2 methyltransferase
• Histone modification defects in developmental disorders and cancer
• Hormonal and genetical assessment of a Japanese girl with weaver syndrome
• Imagawa-Matsumoto syndrome: SUZ12-related overgrowth disorder
• Interaction between host G3BP and viral nucleocapsid protein regulates SARS-CoV-2 replication
• Intrauterine growth in chromatinopathies: A long road for better understanding and for improving clinical management
• Loss of maternal EED results in postnatal overgrowth
• Management of γ-hydroxybutyrate intoxication and withdrawal
• Mental deficiency, alterations in performance, and CNS abnormalities in overgrowth syndromes
• Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth
• Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability
• Mutations in EZH2 cause Weaver syndrome
• Mutations in genes encoding polycomb repressive complex 2 subunits cause Weaver syndrome
• Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes
• Mutations in SETD2 cause a novel overgrowth condition
• Neurophysiological Characterization of Posteromedial Hypothalamus in Anaesthetized Patients
• Novel de novo mutation affecting two adjacent aminoacids in the EED gene in a patient with Weaver syndrome
• Novel EED mutation in patient with Weaver syndrome
• Novel mouse model of Weaver syndrome displays overgrowth and excess osteogenesis reversible with KDM6A/6B inhibition
• Novel SUZ12 mutations in Weaver-like syndrome
• NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes
• NSD1 mutations generate a genome-wide DNA methylation signature
• Olfactory Malformations in Mendelian Disorders of the Epigenetic Machinery
• Oral, radiographical, and clinical findings in Weaver syndrome: a case report
• Overgrowth syndromes
• Pediatric cervical kyphosis in the MRI era (1984-2008) with long-term follow up: literature review
• Phenotypic and genetic effects of recessive haplotypes on yield, longevity, and fertility
• Posterior urethral valves in patients with trisomy 21: Similar renal outcomes and rates of volitional voiding
• Posteromedial Hypothalamic Deep Brain Stimulation for Refractory Aggressiveness in a Patient With Weaver Syndrome: Clinical, Technical Report and Operative Video
• PRC2 functions in development and congenital disorders
• PRC2-complex related dysfunction in overgrowth syndromes: A review of EZH2, EED, and SUZ12 and their syndromic phenotypes
• Pregnancy Outcomes Associated with Ovarian Hyperstimulation Syndrome: A Retrospective Cohort Study of Infertile Women
• Prenatal Intravenous Magnesium at 30-34 Weeks' Gestation and Neurodevelopmental Outcomes in Offspring: The MAGENTA Randomized Clinical Trial
• Rare SUZ12 variants commonly cause an overgrowth phenotype
• Recommendations for Cancer Surveillance in Individuals with RASopathies and Other Rare Genetic Conditions with Increased Cancer Risk
• Review and meta-analysis of systematic searches for uniparental disomy (UPD) other than UPD 15
• Risk Factors for Cerebral Hyperperfusion Syndrome following Carotid Revascularization
• Screening genetic diseases prevalence in Braunvieh cattle
• Sotos syndrome
• Specific entities affecting the craniocervical region: syndromes affecting the craniocervical junction
• Spectrum of NSD1 gene mutations in southern Chinese patients with Sotos syndrome
• Spectrum of NSD1 mutations in Sotos and Weaver syndromes
• Structural basis for PRC2 engagement with chromatin
• The difficulty of height prediction in Weaver syndrome
• The epigenetic state of EED-Gli3-Gli1 regulatory axis controls embryonic cortical neurogenesis
• The NSD1 and EZH2 overgrowth genes, similarities and differences
• The phenotype of EZH2 haploinsufficiency-1.2-Mb deletion at 7q36.1 in a child with tall stature and intellectual disability
• The things we carry: The scope and impact of second victim syndrome
• The upper airway in Weaver syndrome
• Three additional patients with EED-associated overgrowth: potential mutation hotspots identified?
• Treatment of macroglossia in a child with Weaver syndrome
• Weaver syndrome and defective cortical development: a rare association
• Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype
• Weaver syndrome and neuroblastoma
• Weaver syndrome associated with bilateral congenital hip and unilateral subtalar dislocation
• Weaver syndrome with neuroblastoma and cardiovascular anomalies
• Weaver Syndrome-Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro
• Weaver syndrome: A report of a rare genetic syndrome
• Weaver syndrome(Weaver-Smith syndrome)