2013
Whole-exome sequencing identifies a novel somatic mutation in MMP8 associated with a t(1;22)-acute megakaryoblastic leukemia
Kim Y, Schulz VP, Satake N, Gruber TA, Teixeira AM, Halene S, Gallagher PG, Krause DS. Whole-exome sequencing identifies a novel somatic mutation in MMP8 associated with a t(1;22)-acute megakaryoblastic leukemia. Leukemia 2013, 28: 945-948. PMID: 24157583, PMCID: PMC3981934, DOI: 10.1038/leu.2013.314.Peer-Reviewed Original Research
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