2023
Digital assay for rapid electronic quantification of clinical pathogens using DNA nanoballs
Tayyab M, Barrett D, van Riel G, Liu S, Reinius B, Scharfe C, Griffin P, Steinmetz L, Javanmard M, Pelechano V. Digital assay for rapid electronic quantification of clinical pathogens using DNA nanoballs. Science Advances 2023, 9: eadi4997. PMID: 37672583, PMCID: PMC10482329, DOI: 10.1126/sciadv.adi4997.Peer-Reviewed Original ResearchConceptsMicrofluidic impedance cytometerDNA nanoballsLabel-free assayColorimetric readoutImpedance cytometerDigital assaysLoop-mediated isothermal amplificationCapillary-driven flowNanoballsDNA detectionStandalone deviceDNA/RNAIsothermal amplificationCompact systemNucleic acidsClinical pathogensPathogen identificationAccurate detectionRapid testReadoutDetectionNovel methodImpedanceNucleic Acid Quantification by Multi-Frequency Impedance Cytometry and Machine Learning
Kokabi M, Sui J, Gandotra N, Khamseh A, Scharfe C, Javanmard M. Nucleic Acid Quantification by Multi-Frequency Impedance Cytometry and Machine Learning. Biosensors 2023, 13: 316. PMID: 36979528, PMCID: PMC10046493, DOI: 10.3390/bios13030316.Peer-Reviewed Original Research
2010
Semi‐Automated Library Preparation for High‐Throughput DNA Sequencing Platforms
Farias-Hesson E, Erikson J, Atkins A, Shen P, Davis RW, Scharfe C, Pourmand N. Semi‐Automated Library Preparation for High‐Throughput DNA Sequencing Platforms. BioMed Research International 2010, 2010: 617469. PMID: 20625503, PMCID: PMC2896710, DOI: 10.1155/2010/617469.Peer-Reviewed Original Research
2000
A novel mutation in the thiamine responsive megaloblastic anaemia gene SLC19A2 in a patient with deficiency of respiratory chain complex I
Scharfe C, Hauschild M, Klopstock T, Janssen AJ, Heidemann PH, Meitinger T, Jaksch M. A novel mutation in the thiamine responsive megaloblastic anaemia gene SLC19A2 in a patient with deficiency of respiratory chain complex I. Journal Of Medical Genetics 2000, 37: 669. PMID: 10978358, PMCID: PMC1734685, DOI: 10.1136/jmg.37.9.669.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAnemia, MegaloblasticBase SequenceCarrier ProteinsConsanguinityDNADNA Mutational AnalysisElectron Transport Complex IFamily HealthFemaleHumansMaleMembrane Transport ProteinsMitochondria, MuscleMuscle, SkeletalMutationNADH, NADPH OxidoreductasesPedigreePoint MutationPyruvate Dehydrogenase ComplexPyruvate Dehydrogenase Complex Deficiency DiseaseThiamineConceptsComplex I activityEarly-onset autosomal recessive disorderHigh-dose thiamine supplementationBrain MRI lesionsThiamine-responsive megaloblastic anemiaAutosomal recessive disorderI activityMRI lesionsClinical featuresMegaloblastic anemiaSkin biopsiesThiamine supplementationThiamine deficiencyTypical triadSLC19A2 geneRetinal degenerationHigh dosesConsanguineous parentsShort statureMitochondrial energy productionMitochondrial abnormalitiesSevere deficiencyRecessive disorderRespiratory chain complex IChain complex I
1998
Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Deafness (DIDMOAD) Caused by Mutations in a Novel Gene (Wolframin) Coding for a Predicted Transmembrane Protein
Strom T, Hörtnagel K, Hofmann S, Gekeler F, Scharfe C, Rabl W, Gerbitz K, Meitinger T. Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Deafness (DIDMOAD) Caused by Mutations in a Novel Gene (Wolframin) Coding for a Predicted Transmembrane Protein. Human Molecular Genetics 1998, 7: 2021-2028. PMID: 9817917, DOI: 10.1093/hmg/7.13.2021.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAmino Acid SequenceAnimalsChildChromosomes, Human, Pair 4DNAExonsFamily HealthFemaleGenesGenetic MarkersHumansIntronsMaleMembrane ProteinsMiceMolecular Sequence DataMutationPedigreePhysical Chromosome MappingPolymorphism, Single-Stranded ConformationalSequence AlignmentSequence Analysis, DNASequence Homology, Amino AcidWolfram SyndromeConceptsOptic atrophyWolfram syndrome patientsJuvenile diabetes mellitusWolfram syndrome familiesAutosomal recessive disorderMitochondrial DNA deletionsDiabetes mellitusPeripheral neuropathyNeurological symptomsDiabetes insipidusPsychiatric illnessSyndrome patientsWolfram syndromeHeterozygous carriersRecessive disorderSyndrome familiesAffected individualsMellitusPatientsAtrophyInsipidusFunction mutationsDeafnessDNA deletionsTransmembrane protein