2014
The contribution of de novo coding mutations to autism spectrum disorder
Iossifov I, O’Roak B, Sanders SJ, Ronemus M, Krumm N, Levy D, Stessman HA, Witherspoon KT, Vives L, Patterson KE, Smith JD, Paeper B, Nickerson DA, Dea J, Dong S, Gonzalez LE, Mandell JD, Mane SM, Murtha MT, Sullivan CA, Walker MF, Waqar Z, Wei L, Willsey AJ, Yamrom B, Lee YH, Grabowska E, Dalkic E, Wang Z, Marks S, Andrews P, Leotta A, Kendall J, Hakker I, Rosenbaum J, Ma B, Rodgers L, Troge J, Narzisi G, Yoon S, Schatz MC, Ye K, McCombie WR, Shendure J, Eichler EE, State MW, Wigler M. The contribution of de novo coding mutations to autism spectrum disorder. Nature 2014, 515: 216-221. PMID: 25363768, PMCID: PMC4313871, DOI: 10.1038/nature13908.Peer-Reviewed Original ResearchConceptsLGD mutationsMissense mutationsWild-type alleleChromatin modifiersGene-disrupting mutationsGenetic architectureCopy number variantsDe novo mutationsDe novo missense mutationsWhole-exome sequencingHuman diseasesGenesNovo missense mutationNumber variantsLikely gene-disrupting mutationsMutationsDe novoNovo mutationsExome sequencingSimplex familiesTargetFMRPPowerful toolSimilar numberSequencing
2008
Microvessel area using automated image analysis is reproducible and is associated with prognosis in breast cancer
Sullivan CA, Ghosh S, Ocal IT, Camp RL, Rimm DL, Chung GG. Microvessel area using automated image analysis is reproducible and is associated with prognosis in breast cancer. Human Pathology 2008, 40: 156-165. PMID: 18799189, DOI: 10.1016/j.humpath.2008.07.005.Peer-Reviewed Original ResearchConceptsVIII-related antigenMicrovessel densityMicrovessel areaBreast cancerFactor VIII-related antigenPrimary breast cancerEstrogen receptor negativityReceptor negativityNode positivityClinical outcomesEvaluable casesPrognostic parametersAngiogenic biomarkersLarge tumorsYear survivalQuantitative image analysis systemTissue microarrayTumorsCD31Multivariate levelVessel compartmentPoor associationCancerAntigenCD34