2020
Analytical sensitivity and efficiency comparisons of SARS-CoV-2 RT–qPCR primer–probe sets
Vogels CBF, Brito AF, Wyllie AL, Fauver JR, Ott IM, Kalinich CC, Petrone ME, Casanovas-Massana A, Catherine Muenker M, Moore AJ, Klein J, Lu P, Lu-Culligan A, Jiang X, Kim DJ, Kudo E, Mao T, Moriyama M, Oh JE, Park A, Silva J, Song E, Takahashi T, Taura M, Tokuyama M, Venkataraman A, Weizman OE, Wong P, Yang Y, Cheemarla NR, White EB, Lapidus S, Earnest R, Geng B, Vijayakumar P, Odio C, Fournier J, Bermejo S, Farhadian S, Dela Cruz CS, Iwasaki A, Ko AI, Landry ML, Foxman EF, Grubaugh ND. Analytical sensitivity and efficiency comparisons of SARS-CoV-2 RT–qPCR primer–probe sets. Nature Microbiology 2020, 5: 1299-1305. PMID: 32651556, PMCID: PMC9241364, DOI: 10.1038/s41564-020-0761-6.Peer-Reviewed Original ResearchMeSH KeywordsBetacoronavirusClinical Laboratory TechniquesCoronavirus InfectionsCOVID-19COVID-19 TestingGenetic VariationGenome, ViralHumansMolecular Probe TechniquesPandemicsPneumonia, ViralReverse Transcriptase Polymerase Chain ReactionRNARNA ProbesRNA, ViralSARS-CoV-2Sensitivity and SpecificityConceptsSARS-CoV-2SARS-CoV-2 RTSevere acute respiratory syndrome coronavirusAcute respiratory syndrome coronavirusViral RNA copiesPublic health laboratoriesPublic health interventionsReverse transcription-PCR assaySARS-CoV-2 diagnostic testingDiagnostic assaysTranscription-PCR assaySARS-CoV-2 evolutionQuantitative reverse transcription-PCR assaysRapid diagnostic assaysHealth laboratoriesHealth interventionsDiagnostic testingRNA copiesPrimer-probe setsAssaysLow sensitivityCritical needAnalytical sensitivity
2013
Inherited mutations in the helicase RTEL1 cause telomere dysfunction and Hoyeraal–Hreidarsson syndrome
Deng Z, Glousker G, Molczan A, Fox A, Lamm N, Dheekollu J, Weizman O, Schertzer M, Wang Z, Vladimirova O, Schug J, Aker M, Londoño-Vallejo A, Kaestner K, Lieberman P, Tzfati Y. Inherited mutations in the helicase RTEL1 cause telomere dysfunction and Hoyeraal–Hreidarsson syndrome. Proceedings Of The National Academy Of Sciences Of The United States Of America 2013, 110: e3408-e3416. PMID: 23959892, PMCID: PMC3767560, DOI: 10.1073/pnas.1300600110.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsBase SequenceBlotting, WesternCell ProliferationCells, CulturedDNA HelicasesDyskeratosis CongenitaFamily HealthFemaleFetal Growth RetardationGene ExpressionGenomic InstabilityHeLa CellsHumansIn Situ Hybridization, FluorescenceIntellectual DisabilityMaleMiceMicrocephalyMutationPedigreeReverse Transcriptase Polymerase Chain ReactionTelomereTelomere ShorteningTelomeric Repeat Binding Protein 1ConceptsHoyeraal-Hreidarsson syndromeHuman RTEL1Growth defectCell divisionRTEL1 mutationsShelterin proteins TRF1DNA damage responseElongation helicase 1Unlimited cell divisionCell cycle arrestGenome stabilityNatural chromosomesProteins TRF1Telomere protectionNuclear factor 2Helicase RTEL1Damage responseTelomeric repeatsHelicase 1Ectopic expressionTelomere dysfunctionLymphoblastoid cell linesEssential functionsDevelopmental defectsRTEL1