Featured Publications
Hypermutated phenotype in gliosarcoma of the spinal cord
Hong CS, Kuzmik GA, Kundishora AJ, Elsamadicy AA, Koo AB, McGuone D, Blondin NA, DiLuna ML, Erson-Omay EZ. Hypermutated phenotype in gliosarcoma of the spinal cord. Npj Precision Oncology 2021, 5: 8. PMID: 33580181, PMCID: PMC7881101, DOI: 10.1038/s41698-021-00143-w.Peer-Reviewed Original ResearchSpinal cordWhole-exome sequencingLow-grade brain gliomasVariant of glioblastomaLow-grade gliomasTumor anteriorAdjuvant radiationNeurological deficitsSomatic single nucleotide variationsPoor prognosisGrade gliomasTemozolomide treatmentBrain gliomasGliosarcomaMicrosatellite stabilityCordSomatic mutationsHypermutator phenotypeGliomasComprehensive genetic characterizationGenomic mechanismsSingle nucleotide variationsPhenotypeFirst reportPathway genes
2018
Whole-Exome Sequencing of an Exceptional Longevity Cohort
Nygaard HB, Erson-Omay EZ, Wu X, Kent BA, Bernales CQ, Evans DM, Farrer MJ, Vilariño-Güell C, Strittmatter SM. Whole-Exome Sequencing of an Exceptional Longevity Cohort. The Journals Of Gerontology Series A 2018, 74: 1386-1390. PMID: 29750252, PMCID: PMC6696723, DOI: 10.1093/gerona/gly098.Peer-Reviewed Original ResearchConceptsGenetic basisRare protein-altering variantsSearch of genesGene burden analysisProtein-altering variantsIndividual genesWhole-exome sequencingAlzheimer's diseaseAging phenotypesGenesRisk variantsGenetic variantsGenetic contributionExceptional longevityExome sequencingLongevity cohortBurden analysisRare variantsNeurodegenerative disordersSequencingPhenotypeLongevityNominal statistical significanceVariantsMDN1