• A functional assay to classify ZBTB24 missense variants of unknown significance
• A novel iPSC-based model of ICF syndrome subtype 2 recapitulates the molecular phenotype of ZBTB24 deficiency
• A Novel Mutation in a Critical Region for the Methyl Donor Binding in DNMT3B Causes Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome (ICF)
• A novel mutation in DNMT3B gene causing ICF1 syndrome in an infant with refractory thrombocytopenia
• A young girl with hypogammaglobulinemia and granulomatous hepatitis caused by a novel mutation in ZBTB24 gene: A case based analysis
• AIDS or HIV Education and Sexual Behaviors Among Adolescent Sexual Minority Males: National HIV Behavioral Surveillance, 3 U.S. Cities, 2015
• Allogeneic Hematopoietic Stem Cell Transplantation in Immunodeficiency-Centromeric Instability-Facial Dysmorphism (ICF) Syndrome: an EBMT/ESID Inborn Errors Working Party Study
• An acquired high-risk chromosome instability phenotype in multiple myeloma: Jumping 1q Syndrome
• Application of the international classification of functioning principles to guide rehabilitation following hemipelvectomy in an adolescent with Li-Fraumeni syndrome: A case report
• Author Correction: Enhanced CD19 activity in B cells contributes to immunodeficiency in mice deficient in the ICF syndrome gene Zbtb24
• CDCA7 and HELLS mutations undermine nonhomologous end joining in centromeric instability syndrome
• CDCA7 and HELLS suppress DNA:RNA hybrid-associated DNA damage at pericentromeric repeats
• CDCA7 is a hemimethylated DNA adaptor for the nucleosome remodeler HELLS
• Centromeres Transcription and Transcripts for Better and for Worse
• Characterization of a mouse model of ICF syndrome reveals enhanced CD19 activation in inducing hypogammaglobulinemia
• Chromatin remodeling in replication-uncoupled maintenance DNA methylation and chromosome stability: Insights from ICF syndrome studies
• Clinical and genetic manifestations of immunodeficiency, centromeric instability, and facial anomalies syndrome: a case report and literature review
• Clinical and Immunological Characterization of ICF Syndrome in Japan
• Clinical-functional features of individuals with Osteogenesis Imperfecta and Ehlers-Danlos syndromes: A scoping review of assessment tools and ICF model
• Clinical, Immunologic and Molecular Spectrum of Patients with Immunodeficiency, Centromeric Instability, and Facial Anomalies (ICF) Syndrome: A Systematic Review
• Coevolution of the CDCA7-HELLS ICF-related nucleosome remodeling complex and DNA methyltransferases
• Coevolution of the CDCA7-HELLS ICF-related nucleosome remodeling complex and DNA methyltransferases
• Combined immunodeficiency develops with age in Immunodeficiency-centromeric instability-facial anomalies syndrome 2 (ICF2)
• Comparative methylome analysis of ICF patients identifies heterochromatin loci that require ZBTB24, CDCA7 and HELLS for their methylated state
• Comprehensive structure-function characterization of DNMT3B and DNMT3A reveals distinctive de novo DNA methylation mechanisms
• Consensus recommendations on organization of care for individuals with Phelan-McDermid syndrome
• Converging disease genes in ICF syndrome: ZBTB24 controls expression of CDCA7 in mammals
• Corrigendum: Exploring the intersection of epigenetics, DNA repair, and immunology from studies of ICF syndrome, an inborn error of immunity
• COVID-19 pandemic-associated changes in overall emergency department visits by age group, race, and ethnicity - United States, January 2019-April 2022
• Deficient GABABergic and glutamatergic excitability in the motor cortex of patients with long-COVID and cognitive impairment
• Detecting Comparative Features of Comprehensive Geriatric Assessment through the International Classification of Functioning, Disability, and Health Linkage: A Web-Based Survey
• Dimerization choice and alternative functions of ZBTB transcription factors
• DNA methylation in disease: Immunodeficiency, Centromeric instability, Facial anomalies syndrome
• DNA methylation in satellite repeats disorders
• DNA:RNA hybrids at telomeres - when it is better to be out of the (R) loop
• DNMT3B deficiency presenting as severe combined immune deficiency: A case report
• DNMT3B Functions: Novel Insights From Human Disease
• Dnmt3b Prefers Germ Line Genes and Centromeric Regions: Lessons from the ICF Syndrome and Cancer and Implications for Diseases
• DNMT3B PWWP mutations cause hypermethylation of heterochromatin
• Does DNA Methylation Matter in FSHD?
• Enhanced CD19 activity in B cells contributes to immunodeficiency in mice deficient in the ICF syndrome gene Zbtb24
• Estimated SARS-CoV-2 antibody seroprevalence trends and relationship to reported case prevalence from a repeated, cross-sectional study in the 50 states and the District of Columbia, United States-October 25, 2020-February 26, 2022
• Evaluation of Clinical and Immunological Alterations Associated with ICF Syndrome
• Expanding the mutation spectrum in ICF syndrome: Evidence for a gender bias in ICF2
• Exploring the intersection of epigenetics, DNA repair, and immunology from studies of ICF syndrome, an inborn error of immunity
• Fragile sites, chromosomal lesions, tandem repeats, and disease
• Genetic alterations of DNA methylation machinery in human diseases
• Genetic, Cellular and Clinical Features of ICF Syndrome: a French National Survey
• Genome-Wide DNA Methylation Analysis Identifies Novel Hypomethylated Non-Pericentromeric Genes with Potential Clinical Implications in ICF Syndrome
• Germline genes hypomethylation and expression define a molecular signature in peripheral blood of ICF patients: implications for diagnosis and etiology
• HELLS and CDCA7 comprise a bipartite nucleosome remodeling complex defective in ICF syndrome
• Hematopoietic Stem Cell Transplantation in an Infant with Immunodeficiency, Centromeric Instability, and Facial Anomaly Syndrome
• Human subtelomeric DNA methylation: regulation and roles in telomere function
• ICF1-Syndrome-Associated <em>DNMT3B</em> Mutations Prevent De Novo Methylation at a Subset of Imprinted Loci during iPSC Reprogramming
• Identification of ZBTB24 protein domains and motifs for heterochromatin localization and transcriptional activation
• Immune Reconstitution after Hematopoietic Stem Cell Transplantation in Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome Type 1
• Immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome with NK dysfunction and EBV-driven malignancy treated with stem cell transplantation
• Immunodeficiency, Centromeric Region Instability, and Facial Anomalies Syndrome (ICF) in a Boy with Variable Clinical and Immunological Presentations
• Immunophenotype, Karyotype and Molecular Findings in a Case of ICF Syndrome
• Impaired long-term potentiation-like motor cortical plasticity in progressive supranuclear palsy
• Losing DNA methylation at repetitive elements and breaking bad
• Loss of ZBTB24 impairs nonhomologous end-joining and class-switch recombination in patients with ICF syndrome
• Lsh/HELLS is required for B lymphocyte development and immunoglobulin class switch recombination
• Lsh/HELLS regulates self-renewal/proliferation of neural stem/progenitor cells
• Lymphoid-specific helicase in epigenetics, DNA repair and cancer
• Motor Cortex Inhibition and Facilitation Correlates with Fibromyalgia Compensatory Mechanisms and Pain: A Cross-Sectional Study
• Motor corticospinal excitability abnormalities differ between distinct chronic low back pain syndromes
• Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome
• Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy
• Non-coding RNAs in chromatin disease involving neurological defects
• Non-random length distribution of individual telomeres in immunodeficiency, centromeric instability and facial anomalies syndrome, type I
• Novel <em>DNMT3B</em> Mutation in a Patient with Immunodeficiency, Centromeric Instability, and Facial Anomalies (ICF) Syndrome and a Bronchopulmonary Collateral Artery
• Novel compound heterozygous mutations in UHRF1 are associated with atypical immunodeficiency, centromeric instability and facial anomalies syndrome with distinctive genome-wide DNA hypomethylation
• Novel DNMT3B Mutation in a Patient with Immunodeficiency, Centromeric Instability, and Facial Anomalies (ICF) Syndrome and a Bronchopulmonary Collateral Artery
• Occupational performance and application of the International Classification of Functioning (ICF) in a rehabilitation service
• Pericentromeric hypomethylation elicits an interferon response in an animal model of ICF syndrome
• Persistent epigenetic memory impedes rescue of the telomeric phenotype in human ICF iPSCs following DNMT3B correction
• Physical exercise alleviates oxidative stress in brown adipose tissue and causes changes in body composition and nutritional behavior in rats with polycystic ovary syndrome
• Progressive Immunodeficiency with Gradual Depletion of B and CD4⁺ T Cells in Immunodeficiency, Centromeric Instability and Facial Anomalies Syndrome 2 (ICF2)
• Regulation of telomeric function by DNA methylation differs between humans and mice
• Repetitive Fragile Sites: Centromere Satellite DNA As a Source of Genome Instability in Human Diseases
• Risks and rewards of big-data in epigenomics research: an interview with Melanie Ehrlich
• Screening newborns for low T cell receptor excision circles (TRECs) Fails to Detect Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome
• Selective demethylation and altered gene expression are associated with ICF syndrome in human-induced pluripotent stem cells and mesenchymal stem cells
• Sports Classification and Athletes With Intellectual Disabilities: Measuring Health Status Using a Questionnaire Based on the International Classification of Functioning, Disability and Health
• Structural basis of specific DNA binding by the transcription factor ZBTB24
• Structure of DNMT3B homo-oligomer reveals vulnerability to impairment by ICF mutations
• Subtelomeric methylation distinguishes between subtypes of Immunodeficiency, Centromeric instability and Facial anomalies syndrome
• Symptoms and functioning: a content analysis of the PANSS under the ICF framework
• Telomeres in ICF syndrome cells are vulnerable to DNA damage due to elevated DNA:RNA hybrids
• The C-terminal 4CXXC-type zinc finger domain of CDCA7 recognizes hemimethylated DNA and modulates activities of chromatin remodeling enzyme HELLS
• The human HELLS chromatin remodelling protein promotes end resection to facilitate homologous recombination and contributes to DSB repair within heterochromatin
• The ICF syndrome protein CDCA7 harbors a unique DNA binding domain that recognizes a CpG dyad in the context of a non-B DNA
• The ICF syndrome protein CDCA7 harbors a unique DNA-binding domain that recognizes a CpG dyad in the context of a non-B DNA
• The Value of Chromosome Analysis to Interrogate Variants in DNMT3B Causing Immunodeficiency, Centromeric Instability, and Facial Anomaly Syndrome Type I (ICF1)
• The ZBTB24-CDCA7 axis regulates HELLS enrichment at centromeric satellite repeats to facilitate DNA methylation
• Three Types of Immunodeficiency, Centromeric Instability, and Facial Anomalies (ICF) Syndrome Identified by Whole-Exome Sequencing in Saudi Hypogammaglobulinemia Patients: Clinical, Molecular, and Cytogenetic Features
• Utilization and Impact of Symptomatic and Exposure SARS-CoV-2 Testing in K-12 Schools
• Vesicourethral reflux-induced renal failure in a patient with ICF syndrome due to a novel DNMT3B mutation
• ZBTB24 is a transcriptional regulator that coordinates with DNMT3B to control DNA methylation