2011
High-quality DNA sequence capture of 524 disease candidate genes
Shen P, Wang W, Krishnakumar S, Palm C, Chi AK, Enns GM, Davis RW, Speed TP, Mindrinos MN, Scharfe C. High-quality DNA sequence capture of 524 disease candidate genes. Proceedings Of The National Academy Of Sciences Of The United States Of America 2011, 108: 6549-6554. PMID: 21467225, PMCID: PMC3080966, DOI: 10.1073/pnas.1018981108.Peer-Reviewed Original ResearchConceptsGenome informationCandidate genomic regionsCopy number differencesHigh GC contentPadlock probesMolecular diagnosticsSingle nucleotide changeExon-level resolutionDisease candidate genesMitochondrial genesGenomic regionsSequence captureOrnithine transcarbamylase deficiencyGC contentOTC geneCandidate genesDNA variantsExon captureGenomic DNANucleotide changesSample processingStructural variantsGenesSequence verificationDNA samples
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
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