2017
Novel homozygous FANCL mutation and somatic heterozygous SETBP1 mutation in a Chinese girl with Fanconi Anemia
Wu W, Liu Y, Zhou Q, Wang Q, Luo F, Xu Z, Geng Q, Li P, Zhang HZ, Xie J. Novel homozygous FANCL mutation and somatic heterozygous SETBP1 mutation in a Chinese girl with Fanconi Anemia. European Journal Of Medical Genetics 2017, 60: 369-373. PMID: 28419882, DOI: 10.1016/j.ejmg.2017.04.008.Peer-Reviewed Original ResearchConceptsFanconi anemiaCopy number lossNovel homozygous mutation c.Copy number aberrationsDifferent genesMutant variantsSomatic gene mutationsGenotype-phenotype correlationBone marrow failureGenesGain of 3qNumber lossSETBP1 geneNumber aberrationsMutationsHomozygous mutation c.Genotype correlationMarrow failureMutation analysisMutation c.Gene mutationsFANCLChromosomal abnormalitiesHeterogeneous disorderSETBP1 mutations
2010
A Highly Sensitive, High-Throughput Assay for the Detection of Turner Syndrome
Rivkees SA, Hager K, Hosono S, Wise A, Li P, Rinder HM, Gruen JR. A Highly Sensitive, High-Throughput Assay for the Detection of Turner Syndrome. The Journal Of Clinical Endocrinology & Metabolism 2010, 96: 699-705. PMID: 21177792, PMCID: PMC3047225, DOI: 10.1210/jc.2010-1554.Peer-Reviewed Original ResearchConceptsX chromosomeInformative single nucleotide polymorphism (SNP) markersSingle nucleotide polymorphism (SNP) markersHigh-throughput assaysPolymorphism markersSingle nucleotide polymorphismsY chromosome materialRAS valuesBuccal swab DNAX chromosome abnormalitiesHigh-throughput testChromosomal mosaicismTurner syndromeDNAMarkersFemalesTS benefitSpecificityT detectionKaryotypeHomozygosityPolymorphismMosaicismAssaysLarge-scale studies