ArticleAmerican journal of human genetics2017
CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions.
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Article in American journal of human genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT06475651 (Characterization and Contribution of Genome-wide DNA Methylation), which is not on this map. Cited by 120 papers.
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120citing papers in PubMed
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What it found
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Characterization and Contribution of Genome-wide DNA Methylation (DNA Methylation Episignatures) in Rare Diseases With Prenatal Onset
Who cites it
120 citing papers in PubMed.
- Genomic Strategies in Pediatric Care: Addressing Rare Diseases in Children.Children (Basel, Switzerland) · 2026Review
- Postnatal relevance of HOXA5 transcription factor in cerebellum-associated behaviors and disorders.Behavioral and brain functions : BBF · 2026Article
- Identification of an episignature for CHD3-related Snijders Blok-Campeau syndrome reveals heterogeneity in the CHARGE syndrome episignature: towards a better characterisation of chromatinopathies.Genome medicine · 2026Article
- Butyrate modifies epigenetic and immune pathways in peripheral mononuclear cells from children with neurodevelopmental disorders associated with chromatin dysregulation.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2026Article
- Multiomic Investigation of Shared Genetic Pathways in Paediatric Congenital Heart Disease and Neurodevelopmental Disorders.Human mutation · 2026Article
- Analysis Methods for Diagnosing Rare Neurodevelopmental Diseases with Episignatures: A Systematic Review of the Literature.Biomedicines · 2025Review
- Neurodevelopment in congenital heart disease: a review of antenatal mechanisms and therapeutic potentials.Pediatric research · 2025Review
- DNA methylation data from Japanese patients with Rubinstein-Taybi syndrome.Human genome variation · 2025Article
- Polycomb-associated and Trithorax-associated developmental conditions-phenotypic convergence and heterogeneity.European journal of human genetics : EJHG · 2025Article
- Article
- MethAgingDB: a comprehensive DNA methylation database for aging biology.Scientific data · 2025Article
- Artificial intelligence-driven genotype-epigenotype-phenotype approaches to resolve challenges in syndrome diagnostics.EBioMedicine · 2025Article
- The Multi-State Epigenetic Pacemaker enables the identification of combinations of factors that influence DNA methylation.GeroScience · 2025Article
- Article
- Expanding Upon Genomics in Rare Diseases: Epigenomic Insights.International journal of molecular sciences · 2024Review
- Higher order interaction analysis quantifies coordination in the epigenome revealing novel biological relationships in Kabuki syndrome.Briefings in bioinformatics · 2024Article
- Article
- Review
- Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes.American journal of human genetics · 2024Article
- Genomic Landscape of Branchio-Oto-Renal Syndrome through Whole-Genome Sequencing: A Single Rare Disease Center Experience in South Korea.International journal of molecular sciences · 2024Article
60 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
24 authors.
Darci T ButcherGenetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada.
Cheryl CytrynbaumGenetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, M5S 1A1, Canada.
Andrei L TurinskyGenetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada.
Michelle T SiuGenetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada.
Michal Inbar-FeigenbergDivision of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada; Department of Pediatrics, University of Toronto, Toronto, Ontario, M5S 1A1, Canada.
Roberto Mendoza-LondonoGenetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada; Department of Pediatrics, University of Toronto, Toronto, Ontario, M5S 1A1, Canada.
David ChitayatDivision of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, M5S 1A1, Canada; Department of Pediatrics, University of Toronto, Toronto, Ontario, M5S 1A1, Canada; Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, Toronto, Ontario, M5G 1X5, Canada.
Susan WalkerGenetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario M5G 1X8 Canada.
Jerry MachadoPreventionGenetics, Marshfield, WI, 54449, USA.
Oana CaluseriuDepartment of Medical Genetics, University of Alberta, Edmonton, Alberta, T6G 2R3, Canada.
Lucie DupuisDivision of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada.
Daria GrafodatskayaPathology and Molecular Medicine, McMaster University, Hamilton, Ontario, L8S 4L8, Canada.
William ReardonNational Centre for Medical Genetics, Our Lady's Children's Hospital, Crumlin, Dublin 12, Ireland.
Brigitte Gilbert-DussardierService de Génétique, Centre de Référence Anomalies du Développement de l'Ouest, CHU Poitiers, 86021 Poitiers, France; EA3808, Université de Poitiers, France.
Alain VerloesDépartement de Génétique, APHP-Hôpital Robert DEBRE, 75019 Paris, France.
Frederic BilanService de Génétique, Centre de Référence Anomalies du Développement de l'Ouest, CHU Poitiers, 86021 Poitiers, France; EA3808, Université de Poitiers, France.
Jeff M MilunskyCenter for Human Genetics Inc., Cambridge, MA 02139, USA.
Raveen BasranPaediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Ontario M5G 1X8 Canada; Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, M5S 1A1, Canada.
Blake PapsinOtolaryngology, The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada; Department of Otolaryngology, University of Toronto, Toronto, Ontario, M5S 1A1, Canada; Institute of Medical Sciences, University of Toronto, Toronto, Ontario M5S 1A8, Canada.
Tracy L StockleyLaboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, M5S 1A1, Canada; Genome Diagnostics, Department of Clinical Laboratory Genetics, University Health Network, Canada.
Stephen W SchererGenetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, M5S 1A1, Canada; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario M5G 1X8 Canada; McLaughlin Centre, University of Toronto, Toronto, Ontario, M5S 1A1, Canada.
Sanaa ChoufaniGenetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada.
Michael BrudnoGenetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada; Department of Computer Science, University of Toronto, Toronto, Ontario, M5S 1A1, Canada.
Rosanna WeksbergGenetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, M5S 1A1, Canada; Department of Pediatrics, University of Toronto, Toronto, Ontario, M5S 1A1, Canada; Institute of Medical Sciences, University of Toronto, Toronto, Ontario M5S 1A8, Canada. Electronic address: rweksb@sickkids.ca.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Epigenetic dysregulation has emerged as a recurring mechanism in the etiology of neurodevelopmental disorders. Two such disorders, CHARGE and Kabuki syndromes, result from loss of function mutations in chromodomain helicase DNA-binding protein 7 (CHD7
Indexed as
DNA MethylationEpigenesis, GeneticAbnormalities, MultipleCell LineCHARGE SyndromeDNA-Binding ProteinsDNA HelicasesFaceGene Expression RegulationGenome, HumanHematologic DiseasesHomeodomain ProteinsHumansLeukocytes, MononuclearMutationNeoplasm ProteinsCHD7 protein, humanDNA-Binding ProteinsDNA HelicasesHomeodomain ProteinsHOXA5 protein, humanKMT2D protein, humanNeoplasm ProteinsCHARGE syndromechromodomain helicase DNA-binding protein 7 (CHD7)DNA methylationEpigeneticsKabuki syndromelysine (K) methyltransferase 2D (KMT2D)
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Registered trials
NCT06475651ClinicalTrials.gov
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.