2023
Identification of a Novel Gene Regulatory Element in Human Erythroid Progenitor Cells
Schulz V, Lezon-Geyda K, Shan P, Papoin J, Narla M, Steiner L, Blanc L, Palis J, Gallagher P. Identification of a Novel Gene Regulatory Element in Human Erythroid Progenitor Cells. Blood 2023, 142: 9. DOI: 10.1182/blood-2023-186046.Peer-Reviewed Original ResearchErythroid progenitor cellsActive enhancersEarly erythropoiesisChIP-seqRegulatory elementsGene expressionATAC-seqRUNX motifsGATA motifSingle nucleotide polymorphismsProgenitor cellsGATA1 bindingDisease genesEnhancer regionErythroid lineageTissue-specific transcription factorsNovel gene regulatory elementsNovel enhancer regionErythrocyte traitsGenome-wide association studiesDirect tissue-specific expressionNovel regulatory elementGene regulatory elementsHuman erythroid progenitor cellsTerminal erythroid differentiation
2006
Allelic dropout in long QT syndrome genetic testing: A possible mechanism underlying false-negative results
Tester D, Cronk L, Carr J, Schulz V, Salisbury B, Judson R, Ackerman M. Allelic dropout in long QT syndrome genetic testing: A possible mechanism underlying false-negative results. Heart Rhythm 2006, 3: 815-821. PMID: 16818214, DOI: 10.1016/j.hrthm.2006.03.016.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAllelesChildChromatography, High Pressure LiquidDNADNA Mutational AnalysisERG1 Potassium ChannelEther-A-Go-Go Potassium ChannelsExonsFalse Negative ReactionsFemaleGene FrequencyHumansKCNQ1 Potassium ChannelLong QT SyndromeMaleMuscle ProteinsMutationNAV1.5 Voltage-Gated Sodium ChannelPolymerase Chain ReactionPolymorphism, Single NucleotidePotassium Channels, Voltage-GatedRetrospective StudiesSodium ChannelsConceptsLong QT syndromeGenetic testingSingle nucleotide polymorphismsIntronic single nucleotide polymorphismLQTS-causing mutationsCongenital long QT syndromeCommon intronic single nucleotide polymorphismHigh clinical probabilityLong QT syndrome genetic testingLQTS genetic testingCardiac channel genes
2001
Haplotype Variation and Linkage Disequilibrium in 313 Human Genes
Stephens J, Schneider J, Tanguay D, Choi J, Acharya T, Stanley S, Jiang R, Messer C, Chew A, Han J, Duan J, Carr J, Lee M, Koshy B, Kumar A, Zhang G, Newell W, Windemuth A, Xu C, Kalbfleisch T, Shaner S, Arnold K, Schulz V, Drysdale C, Nandabalan K, Judson R, Ruaño G, Vovis G. Haplotype Variation and Linkage Disequilibrium in 313 Human Genes. Science 2001, 293: 489-493. PMID: 11452081, DOI: 10.1126/science.1059431.Peer-Reviewed Original ResearchConceptsSingle nucleotide polymorphismsPairs of SNPsLinkage disequilibriumVariable single nucleotide polymorphismsPatterns of variationIndividual single nucleotide polymorphismsHaplotype variationBiological traitsHuman genesDiverse ancestryDifferent haplotypesGenesNucleotide polymorphismsHuman populationUnrelated individualsHaplotypesRecent expansionPopulation frequencyDisequilibriumTraitsAncestryImportant implicationsInformation contentPolymorphismPopulation