2019
The genome empowerment scale: An assessment of parental empowerment in families with undiagnosed disease
McConkie‐Rosell A, Schoch K, Sullivan J, Cope H, Spillmann R, Palmer C, Pena L, Jiang Y, Daniels N, Walley N, Tan K, Network U, Hooper S, Shashi V. The genome empowerment scale: An assessment of parental empowerment in families with undiagnosed disease. Clinical Genetics 2019, 96: 521-531. PMID: 31448412, PMCID: PMC6983919, DOI: 10.1111/cge.13635.Peer-Reviewed Original Research
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 disordersExpressionChromatinEpimutationsTraitsMutationsA mixed epigenetic/genetic model for oligogenic inheritance of autism with a limited role for UBE3A
Jiang Y, Sahoo T, Michaelis RC, Bercovich D, Bressler J, Kashork CD, Liu Q, Shaffer LG, Schroer RJ, Stockton DW, Spielman RS, Stevenson RE, Beaudet AL. A mixed epigenetic/genetic model for oligogenic inheritance of autism with a limited role for UBE3A. American Journal Of Medical Genetics Part A 2004, 131A: 1-10. PMID: 15389703, DOI: 10.1002/ajmg.a.30297.Peer-Reviewed Original ResearchMeSH KeywordsAllelesAutistic DisorderBlotting, SouthernBlotting, WesternBrainChromosome AberrationsChromosomes, Human, Pair 15Deoxyribonuclease BamHIDeoxyribonuclease HpaIIDNADNA MethylationFemaleGene DuplicationHumansIn Situ Hybridization, FluorescenceMaleModels, GeneticMutationPedigreeUbiquitin-Protein LigasesConceptsOligogenic inheritanceComplex disease traitsGenome-wide studiesAbnormal DNA methylationE6-AP proteinDe novoGenetic modelsRole of UBE3AUbiquitin ligaseDNA methylationEpigenetic abnormalitiesDisease traitsAutism brainPaternal duplicationChromosome 15qUBE3AGenetic contributionRegion downstreamGenesOligogenic modelInheritanceProteinNovoLigaseBrain samples
2002
A Rheostat Model for a Rapid and Reversible Form of Imprinting-Dependent Evolution
Beaudet AL, Jiang YH. A Rheostat Model for a Rapid and Reversible Form of Imprinting-Dependent Evolution. American Journal Of Human Genetics 2002, 70: 1389-1397. PMID: 11992247, PMCID: PMC379123, DOI: 10.1086/340969.Peer-Reviewed Original ResearchMeSH KeywordsAllelesAnimalsBiological EvolutionGene SilencingGenomic ImprintingHaploidyMammalsModels, GeneticPhenotypeConceptsGenomic imprintingRheostat modelGene expressionSelective advantageNon-Mendelian inheritanceDosage-sensitive lociMajority of variantsEpigenetic variantsEvolutionary advantageForm of evolutionSilent alleleImprintingPhenotypeIntegrated mechanismEnhanced adaptabilityExpressionDeleterious effectsEvolutionMammalsHypervariabilityWide continuumGenesMendelianLociMechanism
1999
Genetics of Angelman Syndrome
Jiang Y, Lev-Lehman E, Bressler J, Tsai T, Beaudet A. Genetics of Angelman Syndrome. American Journal Of Human Genetics 1999, 65: 1-6. PMID: 10364509, PMCID: PMC1378067, DOI: 10.1086/302473.Peer-Reviewed Original Research