2021
A neurogenetic analysis of female autism
Jack A, Sullivan CAW, Aylward E, Bookheimer SY, Dapretto M, Gaab N, Van Horn JD, Eilbott J, Jacokes Z, Torgerson CM, Bernier RA, Geschwind DH, McPartland JC, Nelson CA, Webb SJ, Pelphrey KA, Gupta AR, Bernier R, McPartland J, Ventola P, Kresse A, Neuhaus E, Corrigan S, Wolf J, McDonald N, Ankenman K, Webb S, Jeste S, Nelson C, Naples A, Libsack E, Pelphrey K, Aylward E, Bookheimer S, Gaab N, Dapretto M, Van Horn J, Jack A, Guilford D, Torgerson C, Welker O, Geschwind D, Gupta A, Sullivan C, Lowe J, Jacokes Z, MacDonnell E, Tsapelas H, Depedro-Mercier D, Keifer C, Ventola P. A neurogenetic analysis of female autism. Brain 2021, 144: 1911-1926. PMID: 33860292, PMCID: PMC8320285, DOI: 10.1093/brain/awab064.Peer-Reviewed Original ResearchLanguage and Aggressive Behaviors in Male and Female Youth with Autism Spectrum Disorder
Neuhaus E, Kang VY, Kresse A, Corrigan S, Aylward E, Bernier R, Bookheimer S, Dapretto M, Jack A, Jeste S, McPartland JC, Van Horn JD, Pelphrey K, Webb SJ. Language and Aggressive Behaviors in Male and Female Youth with Autism Spectrum Disorder. Journal Of Autism And Developmental Disorders 2021, 52: 454-462. PMID: 33682042, PMCID: PMC9407024, DOI: 10.1007/s10803-020-04773-0.Peer-Reviewed Original ResearchConceptsAutism spectrum disorderSpectrum disorderChild/family factorsAggressive behaviorSocial-emotional difficultiesCommunication skillsPattern of resultsTypical developmentBroader contextual factorsFamily factorsDisruptive behaviorSevere aggressionAggressionFemale youthFamily characteristicsIntervention methodsContextual factorsImportant correlatesLow family incomeYouthSkillsFamily incomeDisordersDifficultiesBehavior
2020
Do Biological Sex and Early Developmental Milestones Predict the Age of First Concerns and Eventual Diagnosis in Autism Spectrum Disorder?
Harrop C, Libsack E, Bernier R, Dapretto M, Jack A, McPartland JC, Van Horn JD, Webb SJ, Pelphrey K, Consortium T. Do Biological Sex and Early Developmental Milestones Predict the Age of First Concerns and Eventual Diagnosis in Autism Spectrum Disorder? Autism Research 2020, 14: 156-168. PMID: 33274604, PMCID: PMC8023413, DOI: 10.1002/aur.2446.Peer-Reviewed Original ResearchConceptsDevelopmental milestonesBiological sexAutism spectrum disorder diagnosisAutism spectrum disorderEarly developmental milestonesSex differencesStrongest predictorTypical developmentASD diagnosisFirst wordSpectrum disorderLower IQFirst concernsAge parentsDisorder diagnosisIQASDSignificant predictorsParentsInitial concernsChildrenPredictorsLater ageTiming of diagnosisInter-individual variationNeural responsivity to social rewards in autistic female youth
Lawrence KE, Hernandez LM, Eilbott J, Jack A, Aylward E, Gaab N, Van Horn JD, Bernier RA, Geschwind DH, McPartland JC, Nelson CA, Webb SJ, Pelphrey KA, Bookheimer SY, Dapretto M. Neural responsivity to social rewards in autistic female youth. Translational Psychiatry 2020, 10: 178. PMID: 32488083, PMCID: PMC7266816, DOI: 10.1038/s41398-020-0824-8.Peer-Reviewed Original ResearchConceptsImplicit learning taskSocial rewardsAutistic girlsAutistic boysLearning taskSocial reward processingSocial reward systemFemale youthPrevious neuroimaging studiesFunctional magnetic resonanceLateral frontal cortexSocial stimuliNeural responsivityReward processingSocial motivationRewarding stimuliAnterior insulaGreater activityNeural activationNeuroimaging studiesPotential sex differencesRewarding natureSalience detectionAutistic femalesBehavioral evidence
2018
PAC1R Genotype to Phenotype Correlations in Autism Spectrum Disorder
Goodrich M, Armour AC, Panchapakesan K, You X, Devaney J, Knoblach S, Sullivan CAW, Herrero MJ, Gupta AR, Vaidya CJ, Kenworthy L, Corbin JG. PAC1R Genotype to Phenotype Correlations in Autism Spectrum Disorder. Autism Research 2018, 12: 200-211. PMID: 30556326, PMCID: PMC6665682, DOI: 10.1002/aur.2051.Peer-Reviewed Original ResearchConceptsResting-state functional connectivity differencesAutism spectrum disorderHuman amygdalaRight middle temporal gyrusFunctional connectivity differencesHigher functional connectivityEarly postnatal stagesNumerous neurodevelopmental disordersMiddle temporal gyrusGC genotypeBrain trajectoriesRisk genotypesSocial deficitsConnectivity differencesAmygdalaTemporal gyrusFunctional connectivityBrain connectivityPostnatal stagesTime pointsNeurodevelopmental disordersMiceCritical time pointsMultimodal approachPossible alterations
2017
Neurogenetic analysis of childhood disintegrative disorder
Gupta AR, Westphal A, Yang DYJ, Sullivan CAW, Eilbott J, Zaidi S, Voos A, Vander Wyk BC, Ventola P, Waqar Z, Fernandez TV, Ercan-Sencicek AG, Walker MF, Choi M, Schneider A, Hedderly T, Baird G, Friedman H, Cordeaux C, Ristow A, Shic F, Volkmar FR, Pelphrey KA. Neurogenetic analysis of childhood disintegrative disorder. Molecular Autism 2017, 8: 19. PMID: 28392909, PMCID: PMC5379515, DOI: 10.1186/s13229-017-0133-0.Peer-Reviewed Original ResearchAdaptor Proteins, Signal TransducingAutism Spectrum DisorderBasic Helix-Loop-Helix Transcription FactorsBrainBrain MappingCase-Control StudiesChildChild, PreschoolChromosomes, Human, XDisease ProgressionDNA Copy Number VariationsExome SequencingFemaleGene ExpressionHumansIntellectual DisabilityMagnetic Resonance ImagingMaleMaternal InheritanceNuclear ProteinsPhenotypePolymorphism, GeneticSeverity of Illness IndexSiblingsTranscription FactorsTranscriptome
2015
Phase 1b study of the mammalian target of rapamycin inhibitor sirolimus in combination with nanoparticle albumin–bound paclitaxel in patients with advanced solid tumors
Abu-Khalaf MM, Baumgart MA, Gettinger SN, Doddamane I, Tuck DP, Hou S, Chen N, Sullivan C, Lezon-Geyda K, Zelterman D, Hatzis C, Deshpande H, Digiovanna MP, Azodi M, Schwartz PE, Harris LN. Phase 1b study of the mammalian target of rapamycin inhibitor sirolimus in combination with nanoparticle albumin–bound paclitaxel in patients with advanced solid tumors. Cancer 2015, 121: 1817-1826. PMID: 25649370, DOI: 10.1002/cncr.29254.Peer-Reviewed Original ResearchConceptsDose-limiting toxicityIntravenous nab-paclitaxelPhase 1b studyAdvanced solid tumorsNab-paclitaxelFDG activityDay 1Solid tumorsNanoparticle albumin-bound paclitaxelMammalian targetWeekly oral doseAcceptable safety profileRapamycin inhibitor sirolimusAlbumin-bound paclitaxelClinical trial endpointsExploratory gene expression analysisPositron emission tomographyStable diseaseTaxane therapyPartial responseWeekly doseComplete responseOral sirolimusPharmacodynamic assessmentOral dose
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 numberSequencingDe Novo Insertions and Deletions of Predominantly Paternal Origin Are Associated with Autism Spectrum Disorder
Dong S, Walker MF, Carriero NJ, DiCola M, Willsey AJ, Ye AY, Waqar Z, Gonzalez LE, Overton JD, Frahm S, Keaney JF, Teran NA, Dea J, Mandell JD, Bal V, Sullivan CA, DiLullo NM, Khalil RO, Gockley J, Yuksel Z, Sertel SM, Ercan-Sencicek AG, Gupta AR, Mane SM, Sheldon M, Brooks AI, Roeder K, Devlin B, State MW, Wei L, Sanders SJ. De Novo Insertions and Deletions of Predominantly Paternal Origin Are Associated with Autism Spectrum Disorder. Cell Reports 2014, 9: 16-23. PMID: 25284784, PMCID: PMC4194132, DOI: 10.1016/j.celrep.2014.08.068.Peer-Reviewed Original ResearchAutomated Quantitative Analysis of Tissue Microarray of 443 Patients with Colorectal Adenocarcinoma: Low Expression of Bcl-2 Predicts Poor Survival
Nicholson AD, Guo X, Sullivan CA, Cha CH. Automated Quantitative Analysis of Tissue Microarray of 443 Patients with Colorectal Adenocarcinoma: Low Expression of Bcl-2 Predicts Poor Survival. Journal Of The American College Of Surgeons 2014, 219: 977-987. PMID: 25127509, DOI: 10.1016/j.jamcollsurg.2014.07.007.Peer-Reviewed Original ResearchConceptsDisease-specific survivalBcl-2 expressionColorectal cancerOverall survivalPoor disease-specific survivalCox proportional hazards modelIndependent prognostic factorSubset of patientsColorectal adenocarcinoma samplesLog-rank testBcl-2Proportional hazards modelSemi-quantitative grading methodsColorectal cancer samplesNumber of cancersPrognostic factorsT stageChemotherapy choiceClinicopathologic variablesColorectal adenocarcinomaUnivariate analysisPatient outcomesPoor survivalTissue microarrayAggressive phenotype
2009
Tissue Microarray Analysis of 560 Patients with Colorectal Adenocarcinoma: High Expression of HuR Predicts Poor Survival
Yoo PS, Sullivan CA, Kiang S, Gao W, Uchio EM, Chung GG, Cha CH. Tissue Microarray Analysis of 560 Patients with Colorectal Adenocarcinoma: High Expression of HuR Predicts Poor Survival. Annals Of Surgical Oncology 2009, 16: 200. PMID: 19009247, DOI: 10.1245/s10434-008-0209-3.Peer-Reviewed Original ResearchMeSH KeywordsAdenocarcinomaAdultAgedAged, 80 and overAntigens, SurfaceAutomationBiomarkers, TumorColorectal NeoplasmsELAV ProteinsELAV-Like Protein 1FemaleFollow-Up StudiesHumansImage Processing, Computer-AssistedImmunoenzyme TechniquesMaleMiddle AgedNeoplasm StagingPlatelet Endothelial Cell Adhesion Molecule-1PrognosisRNA-Binding ProteinsSurvival RateTissue Array AnalysisVascular Endothelial Growth Factor AYoung AdultConceptsVascular endothelial growth factorColorectal adenocarcinomaPoor survivalHuR expressionKaplan-Meier analysisNovel therapeutic targetTissue microarray analysisEndothelial growth factorChi-squared testInstitutional review boardHuR protein expressionAdvanced diseaseClinical outcomesHighest quartileIndependent predictorsPrognostic significanceColorectal cancerCox regressionTumor stageMetastasis stageColorectal carcinomaLowest quartileClinical dataExpression of HuRTissue microarray