2016
Recurrent genetic defects in classical Hodgkin lymphoma cell lines
Hudnall SD, Meng H, Lozovatsky L, Li P, Strout M, Kleinstein SH. Recurrent genetic defects in classical Hodgkin lymphoma cell lines. Leukemia & Lymphoma 2016, 57: 2890-2900. PMID: 27121023, DOI: 10.1080/10428194.2016.1177179.Peer-Reviewed Original ResearchConceptsMitosis-related genesSingle nucleotide variantsCHL cell linesCell linesRecurrent genetic defectsPathogenic single nucleotide variantsHL cell linesMitotic genesChromosome duplicationClassical Hodgkin lymphoma cell linesGenomic instabilityGenetic analysisWhole-exome sequencingNucleotide variantsGenesHodgkin's lymphoma cell linesLymphoma cell linesNumber variantsKaryotypic analysisGenetic defectsWealth of informationPoor growthVariantsDuplicationLines
2013
Absence of aneuploidy and gastrointestinal tumours in a man with a chromosomal 2q13 deletion and BUB1 monoallelic deficiency
Hoang D, Sue GR, Xu F, Li P, Narayan D. Absence of aneuploidy and gastrointestinal tumours in a man with a chromosomal 2q13 deletion and BUB1 monoallelic deficiency. BMJ Case Reports 2013, 2013: bcr2013008684. PMID: 23440991, PMCID: PMC3604111, DOI: 10.1136/bcr-2013-008684.Peer-Reviewed Original ResearchMeSH KeywordsAllelesAneuploidyCell Transformation, NeoplasticChromosomal InstabilityChromosome DeletionChromosome SegregationChromosomes, Human, Pair 2DNA, NeoplasmFollow-Up StudiesGastrointestinal NeoplasmsHumansMaleMiddle AgedMutationProtein Serine-Threonine KinasesReal-Time Polymerase Chain Reaction
2011
Detecting copy number status and uncovering subclonal markers in heterogeneous tumor biopsies
Parisi F, Ariyan S, Narayan D, Bacchiocchi A, Hoyt K, Cheng E, Xu F, Li P, Halaban R, Kluger Y. Detecting copy number status and uncovering subclonal markers in heterogeneous tumor biopsies. BMC Genomics 2011, 12: 230. PMID: 21569352, PMCID: PMC3114747, DOI: 10.1186/1471-2164-12-230.Peer-Reviewed Original ResearchConceptsCopy number statusMelanoma samplesSingle nucleotide polymorphism arrayHigh-throughput technologiesNext-generation sequencing dataHigh-throughput techniquesCopy number profilesHigh-throughput assaysNucleotide polymorphism arrayNumber statusCopy number alterationsTranscriptome sequencingNext-generation sequencingRNA-seqSingle exonSNP arraySequencing dataMelanoma cell linesNumerous aberrationsPolymorphism arrayNovel aberrationsNumber alterationsSubclonal heterogeneitySitu hybridizationAllelic imbalance
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