2024
Heterozygous CDKN2A Loss is Associated with Recurrence and Survival in High, But Not Low Grade Meningiomas
Tabor J, O'Brien J, Valero S, Pappajohn A, McGuone D, Erson-Omay Z, Yasuno K, Gunel M, Moliterno J. Heterozygous CDKN2A Loss is Associated with Recurrence and Survival in High, But Not Low Grade Meningiomas. Neurosurgery 2024, 70: 203-203. DOI: 10.1227/neu.0000000000002810_112.Peer-Reviewed Original ResearchProgression-free survivalHigh-grade meningiomasOverall survivalNF2 mutationsDecreased PFSLow grade meningiomasWHO grading criteriaLow-grade meningiomasAssociated with recurrenceSomatic NF2 mutationsHigher recurrence rateSomatic driver mutationsAggressive clinical characteristicsIncreased chromosomal instabilityLoss of CDKN2A/BHigh-copy number variationCDKN2A mutationsCopy number variationsAggressive meningiomasLow-grade onesProliferative indexCDKN2A lossGrade meningiomasRecurrence rateMitotic count
2011
Rare Copy Number Variants in Tourette Syndrome Disrupt Genes in Histaminergic Pathways and Overlap with Autism
Fernandez TV, Sanders SJ, Yurkiewicz IR, Ercan-Sencicek AG, Kim YS, Fishman DO, Raubeson MJ, Song Y, Yasuno K, Ho WS, Bilguvar K, Glessner J, Chu SH, Leckman JF, King RA, Gilbert DL, Heiman GA, Tischfield JA, Hoekstra PJ, Devlin B, Hakonarson H, Mane SM, Günel M, State MW. Rare Copy Number Variants in Tourette Syndrome Disrupt Genes in Histaminergic Pathways and Overlap with Autism. Biological Psychiatry 2011, 71: 392-402. PMID: 22169095, PMCID: PMC3282144, DOI: 10.1016/j.biopsych.2011.09.034.Peer-Reviewed Original ResearchConceptsCopy number variationsRare copy number variationsNovel risk regionsEnrichment of genesGamma-aminobutyric acid receptor genesNervous system developmentEtiology of TSParent-child triosRare copy number variantsCopy number variantsGene mappingPathway analysisDe novo eventsAxon guidanceCell adhesionMolecular pathwaysNumber variationsRelevant pathwaysCNV analysisNumber variantsGenesReceptor geneDe novoNovo eventsPathway
2007
Rapid identification of disease‐causing mutations using copy number analysis within linkage intervals
Bayrakli F, Bilguvar K, Mason CE, DiLuna ML, Bayri Y, Gungor L, Terzi M, Mane SM, Lifton RP, State MW, Gunel M. Rapid identification of disease‐causing mutations using copy number analysis within linkage intervals. Human Mutation 2007, 28: 1236-1240. PMID: 17676595, DOI: 10.1002/humu.20592.Peer-Reviewed Original ResearchConceptsCopy number variationsComparative genome hybridization arraysParametric linkage analysisArray-based detectionCopy number analysisDisease-causing mutationsGenome rearrangementsLinkage intervalRapid identificationAutosomal recessive parkinsonismFunctional mutationsLinkage analysisNumber variationsRecessive parkinsonismHybridization arraysPARK2 gene