2025
Estimating the Effects of Hypothetical Ambient PM2.5 Interventions on the Risk of Dementia Using the Parametric g-Formula in the UK Biobank Cohort
Lin C, Liu R, Sutton C, DeWan A, Forastiere L, Chen K. Estimating the Effects of Hypothetical Ambient PM2.5 Interventions on the Risk of Dementia Using the Parametric g-Formula in the UK Biobank Cohort. Environmental Health Perspectives 2025, 133: 047007. PMID: 40062909, PMCID: PMC12010936, DOI: 10.1289/ehp14723.Peer-Reviewed Original ResearchConceptsRisk of dementiaParametric g-formulaUK Biobank cohortG-formulaBiobank cohortLate lifeFree of dementiaUK Biobank participantsModifiable risk factorsParticulate matterAerodynamic diameter <Annual average standardBiobank participantsHypothetical interventionAmbient particulate matterNo interventionDementiaRisk differenceInterventionRisk factorsHealth benefitsPotential health benefitsCohortRiskParticipantsEstablishing a Structured Hypospadias Biobank Cohort for Integrated Research: Methodology, Comprehensive Database Integration, and Phenotyping
Abbas T, Al-Shafai K, Jamil A, Mancha M, Azzah A, Arar S, Kumar S, Al Massih A, Mackeh R, Tomei S, Saraiva L. Establishing a Structured Hypospadias Biobank Cohort for Integrated Research: Methodology, Comprehensive Database Integration, and Phenotyping. Diagnostics 2025, 15: 561. PMID: 40075808, PMCID: PMC11898921, DOI: 10.3390/diagnostics15050561.Peer-Reviewed Original ResearchHypospadias severitySurgical outcomesEvidence-based surgical techniquesImprove long-term resultsPatient outcomesSeverity of hypospadiasTranslational researchGroup of patientsLong-term resultsFollow-up dataDiverse group of patientsLongitudinal follow-up dataPersonalized care strategiesPostoperative complicationsClinical presentationCongenital anomaliesImprove patient outcomesSurgical dataSurgical interventionBiobank cohortSurgical techniquePhenotypic spectrumClinical dataCongenital conditionHypospadiasSecure and federated genome-wide association studies for biobank-scale datasets
Cho H, Froelicher D, Chen J, Edupalli M, Pyrgelis A, Troncoso-Pastoriza J, Hubaux J, Berger B. Secure and federated genome-wide association studies for biobank-scale datasets. Nature Genetics 2025, 57: 809-814. PMID: 39994472, PMCID: PMC11985345, DOI: 10.1038/s41588-025-02109-1.Peer-Reviewed Original ResearchGenome-wide association studiesAssociation studiesGenome-wide association study pipelineDiscovery of genetic variationsBiobank-scale datasetsGenomic studiesGenetic variationCryptographic toolsPrivacy guaranteesData confidentialityPrivate dataDistributed algorithmComputing promisesUK Biobank cohortMultiple entitiesSharing dataComputational frameworkBiobank cohortRuntimeCollaborative analysisDatasetPrincipal-component analysisLinear mixed modelsPrivacyDisease1,2
2024
Corrigendum: The predictive validity of a Brain Care Score for late-life depression and a composite outcome of dementia, stroke, and late-life depression: data from the UK Biobank cohort
Singh S, Rivier C, Papier K, Chemali Z, Gutierrez-Martinez L, Parodi L, Mayerhofer E, Senff J, Clocchiatti-Tuozzo S, Nunley C, Newhouse A, Ouyang A, Westover M, Tanzi R, Lazar R, Pikula A, Ibrahim S, Brouwers H, Howard V, Howard G, Yechoor N, Littlejohns T, Sheth K, Rosand J, Fricchione G, Anderson C, Falcone G. Corrigendum: The predictive validity of a Brain Care Score for late-life depression and a composite outcome of dementia, stroke, and late-life depression: data from the UK Biobank cohort. Frontiers In Psychiatry 2024, 15: 1502482. PMID: 39600788, PMCID: PMC11589155, DOI: 10.3389/fpsyt.2024.1502482.Peer-Reviewed Original ResearchCorrigendum: The predictive validity of a Brain Care Score for dementia and stroke: data from the UK Biobank cohort
Singh S, Oreskovic T, Carr S, Papier K, Conroy M, Senff J, Chemali Z, Gutierrez-Martinez L, Parodi L, Mayerhofer E, Marini S, Nunley C, Newhouse A, Ouyang A, Brouwers H, Westover B, Rivier C, Falcone G, Howard V, Howard G, Pikula A, Ibrahim S, Sheth K, Yechoor N, Lazar R, Anderson C, Tanzi R, Fricchione G, Littlejohns T, Rosand J. Corrigendum: The predictive validity of a Brain Care Score for dementia and stroke: data from the UK Biobank cohort. Frontiers In Neurology 2024, 15: 1501771. PMID: 39563774, PMCID: PMC11574342, DOI: 10.3389/fneur.2024.1501771.Peer-Reviewed Original ResearchThe predictive validity of a Brain Care Score for late-life depression and a composite outcome of dementia, stroke, and late-life depression: data from the UK Biobank cohort
Singh S, Rivier C, Papier K, Chemali Z, Gutierrez-Martinez L, Parodi L, Mayerhofer E, Senff J, Clocchiatti-Tuozzo S, Nunley C, Newhouse A, Ouyang A, Westover M, Tanzi R, Lazar R, Pikula A, Ibrahim S, Brouwers H, Howard V, Howard G, Yechoor N, Littlejohns T, Sheth K, Rosand J, Fricchione G, Anderson C, Falcone G. The predictive validity of a Brain Care Score for late-life depression and a composite outcome of dementia, stroke, and late-life depression: data from the UK Biobank cohort. Frontiers In Psychiatry 2024, 15: 1373797. PMID: 39109366, PMCID: PMC11301016, DOI: 10.3389/fpsyt.2024.1373797.Peer-Reviewed Original ResearchIncident late-life depressionLate-life depressionBrain health outcomesCare scoresHealth outcomesHealthy lifestyle choicesOutcome of dementiaUK Biobank cohortRisk factorsComposite outcomeCox proportional hazards modelsCare providersBiobank cohortProportional hazards modelIncident casesMultivariate Cox proportional hazards modelRisk of strokeLifestyle changesClinical careLifestyle choicesDementiaBrain healthFuture depressionBaseline evaluationComplete dataCerebral Amyloid Angiopathy and Risk of Isolated Nontraumatic Subdural Hemorrhage
Rivier C, Kamel H, Sheth K, Iadecola C, Gupta A, de Leon M, Ross E, Falcone G, Murthy S. Cerebral Amyloid Angiopathy and Risk of Isolated Nontraumatic Subdural Hemorrhage. JAMA Neurology 2024, 81: 163-169. PMID: 38147345, PMCID: PMC10751656, DOI: 10.1001/jamaneurol.2023.4918.Peer-Reviewed Original ResearchCerebral amyloid angiopathyMultivariable logistic regression analysisSubdural hemorrhageLogistic regression analysisIntracerebral hemorrhageIntracranial hemorrhageUK Biobank cohortAmyloid angiopathyMean ageUS cohortRisk factorsHigher oddsDiagnosis of CAAPopulation-based cohort studyBiobank cohortClinical Modification diagnosis codesCAA-related intracerebral hemorrhageCox proportional hazards modelRegression analysisAntithrombotic medication useIndependent risk factorCox regression analysisMultivariable logistic regressionNovel risk factorsSpontaneous intracerebral hemorrhage
2023
The predictive validity of a Brain Care Score for dementia and stroke: data from the UK Biobank cohort
Singh S, Oreskovic T, Carr S, Papier K, Conroy M, Senff J, Chemali Z, Gutierrez-Martinez L, Parodi L, Mayerhofer E, Marini S, Nunley C, Newhouse A, Ouyang A, Brouwers H, Westover B, Rivier C, Falcone G, Howard V, Howard G, Pikula A, Ibrahim S, Sheth K, Yechoor N, Lazar R, Anderson C, Tanzi R, Fricchione G, Littlejohns T, Rosand J. The predictive validity of a Brain Care Score for dementia and stroke: data from the UK Biobank cohort. Frontiers In Neurology 2023, 14: 1291020. PMID: 38107629, PMCID: PMC10725202, DOI: 10.3389/fneur.2023.1291020.Peer-Reviewed Original ResearchRisk of dementiaIncident casesIncident dementiaCare scoresLower riskCox proportional hazards regressionSubsequent incident dementiaProportional hazards regressionUK Biobank cohortHazards regressionBaseline evaluationSignificant associationAge groupsDementiaBiobank cohortStrokeDelphi processLifestyle choicesPatientsUKB participantsRiskBaselineBehavior changeAssociationPredictive validity
2022
Mapping anorexia nervosa genes to clinical phenotypes
Johnson J, Cote A, Dobbyn A, Sloofman L, Xu J, Cotter L, Charney A, Consortium E, Birgegård A, Jordan J, Kennedy M, Landén M, Maguire S, Martin N, Mortensen P, Thornton L, Bulik C, Huckins L. Mapping anorexia nervosa genes to clinical phenotypes. Psychological Medicine 2022, 53: 2619-2633. PMID: 35379376, PMCID: PMC10123844, DOI: 10.1017/s0033291721004554.Peer-Reviewed Original ResearchConceptsBody mass indexGenome-wide association studiesTranscriptome imputationElectronic health record phenotypingAssociation studiesPhenome-wide association studyS-PrediXcan analysisMeasurement of cholesterolTraditional genome-wide association studiesGenes associated with ANAssociation of genetic variantsSubstance useGenetically regulated gene expressionImpact of body mass indexConsequences of aberrant expressionBiobank cohortBiobank populationAssociated with measuresAssociation of ANGWAS findingsSecondary analysisS-PrediXcanDisease riskMass indexSignificant genes
2015
Association between α-synuclein blood transcripts and early, neuroimaging-supported Parkinson’s disease
Locascio J, Eberly S, Liao Z, Liu G, Hoesing A, Duong K, Trisini-Lipsanopoulos A, Dhima K, Hung A, Flaherty A, Schwarzschild M, Hayes M, Wills A, Sohur U, Mejia N, Selkoe D, Oakes D, Shoulson I, Dong X, Marek K, Zheng B, Ivinson A, Hyman B, Growdon J, Sudarsky L, Schlossmacher M, Ravina B, Scherzer C. Association between α-synuclein blood transcripts and early, neuroimaging-supported Parkinson’s disease. Brain 2015, 138: 2659-2671. PMID: 26220939, PMCID: PMC4643625, DOI: 10.1093/brain/awv202.Peer-Reviewed Original ResearchConceptsCognitive declineParkinson's diseasePredictor of cognitive declineSNCA transcriptionEarly-stage Parkinson's diseaseTranscript isoformsTranscript abundanceNear disease onsetYears of longitudinal follow-upLongitudinal Follow-upPathogenic moleculesTranscriptionNeurodegenerative diseasesBiological markersSNCABlood transcriptsPotential predictorsParkinsonA-synucleinBlood cellsBiobank cohortCirculating blood cellsDopamine
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