2016
Next-Generation Molecular Testing of Newborn Dried Blood Spots for Cystic Fibrosis
Lefterova MI, Shen P, Odegaard JI, Fung E, Chiang T, Peng G, Davis RW, Wang W, Kharrazi M, Schrijver I, Scharfe C. Next-Generation Molecular Testing of Newborn Dried Blood Spots for Cystic Fibrosis. Journal Of Molecular Diagnostics 2016, 18: 267-282. PMID: 26847993, PMCID: PMC4816703, DOI: 10.1016/j.jmoldx.2015.11.005.Peer-Reviewed Original ResearchMeSH KeywordsCosts and Cost AnalysisCystic FibrosisCystic Fibrosis Transmembrane Conductance RegulatorDNA Copy Number VariationsDNA PrimersDried Blood Spot TestingGenetic TestingHigh-Throughput Nucleotide SequencingHumansInfant, NewbornMultiplex Polymerase Chain ReactionNeonatal ScreeningQuality ControlReproducibility of ResultsSensitivity and SpecificityConceptsMultiplex next-generation sequencingCost-effective assayHigh-throughput screeningLengthy turnaround timeNewborn Dried Blood SpotsAmplification methodUnique designSample processingGenomic DNAMolecular assaysHigh costTurnaround timeGenetic diseasesBlood spotsCFTR analysisComplete concordanceDried Blood SpotsSingle runAssaysScreen-positive newbornsCostDetection
2004
Integrative Analysis of the Mitochondrial Proteome in Yeast
Prokisch H, Scharfe C, Camp DG, Xiao W, David L, Andreoli C, Monroe ME, Moore RJ, Gritsenko MA, Kozany C, Hixson KK, Mottaz HM, Zischka H, Ueffing M, Herman ZS, Davis RW, Meitinger T, Oefner PJ, Smith RD, Steinmetz LM. Integrative Analysis of the Mitochondrial Proteome in Yeast. PLOS Biology 2004, 2: e160. PMID: 15208715, PMCID: PMC423137, DOI: 10.1371/journal.pbio.0020160.Peer-Reviewed Original ResearchMeSH KeywordsChemical FractionationChromatography, LiquidGene Expression ProfilingGenomeMass SpectrometryMitochondriaMitochondrial ProteinsPhenotypeProteomicsSensitivity and SpecificityYeastsConceptsMitochondrial proteomeGenomic approachesPhenotype screeningGenome-wide approachesSubcellular localization studiesComplex mitochondrial disordersDifferent genomic approachesProtein interaction analysisYeast mitochondriaMitochondrial proteinsMitochondrial organellesProteomic approachProteome studiesAbundant proteinsExpression analysisCandidate genesExpression profilingIntegrative analysisMitochondrial functionLocalization studiesOrganellesMitochondrial disordersProteinSystematic identificationMass spectrometry