2024
Novel protein-truncating variants of a chromatin-modifying gene MSL2 in syndromic neurodevelopmental disorders
Lu X, Ng K, Pinto e Vairo F, Collins J, Cohn R, Riley K, Agre K, Gavrilova R, Klee E, Rosenfeld J, Jiang Y. Novel protein-truncating variants of a chromatin-modifying gene MSL2 in syndromic neurodevelopmental disorders. European Journal Of Human Genetics 2024, 32: 879-883. PMID: 38702431, PMCID: PMC11219747, DOI: 10.1038/s41431-024-01576-0.Peer-Reviewed Original ResearchProtein-truncating variantsSyndromic neurodevelopmental disorderGenomic studiesChromatin-modifying enzymesAcetylation of histone H4Neurodevelopmental disordersLysine 34Histone 2BMono-ubiquitinationLysine 16Epigenetic machineryGenomic evaluationMSL2Exome sequencingHistone H4Epigenetic regulationModifying enzymesEpigenetic genesFunctional importanceGenesChromatinLysineDevelopmental disordersDysmorphic faceVariants
2004
EPIGENETICS AND HUMAN DISEASE
Jiang YH, Bressler J, Beaudet AL. EPIGENETICS AND HUMAN DISEASE. Annual Review Of Genomics And Human Genetics 2004, 5: 479-510. PMID: 15485357, DOI: 10.1146/annurev.genom.5.061903.180014.Peer-Reviewed Original ResearchConceptsHuman diseasesComplex disease traitsRole of epigeneticsHeritable changesChromatin structureGenomic imprintingDNA sequencesEpigenetic phenotypesDisease traitsGene expressionImprinting defectsGenetic scansBeckwith-Wiedemann syndromeGenesDisease phenotypeUniparental disomyDe novoEpigeneticsPhenotypeGenetic disordersExpressionChromatinEpimutationsTraitsMutations