2025
Phenotypic divergence between individuals with self-reported autistic traits and clinically ascertained autism
Banker S, Harrington M, Schafer M, Na S, Heflin M, Barkley S, Trayvick J, Peters A, Thinakaran A, Schiller D, Foss-Feig J, Gu X. Phenotypic divergence between individuals with self-reported autistic traits and clinically ascertained autism. Nature Mental Health 2025, 3: 286-297. PMID: 40084231, PMCID: PMC11896879, DOI: 10.1038/s44220-025-00385-8.Peer-Reviewed Original ResearchAutism spectrum disorderAutistic traitsHigh-trait groupDecision-making taskIn-person sampleSample of adultsAvoidance symptomsSocial anxietySelf-ratingsSpectrum disorderAutism researchNeuropsychiatric traitsSelf-ReportAutismIn-personTraitsSocial tendenciesSocial influenceLaboratory settingClinical characterizationParticipantsAdultsClinical validationPerceptions of opportunitiesAnxiety
2024
The Exposome Paradigm: Applications in Psychopathology and Psychopharmacology
Fusar-Poli L, Guloksuz S. The Exposome Paradigm: Applications in Psychopathology and Psychopharmacology. 2024, 337-349. DOI: 10.1007/978-3-031-61992-2_20.Peer-Reviewed Original ResearchES-SCZNonclinical populationsMental disordersResponse to psychopharmacologic treatmentCourse of mental disordersSchizophrenia spectrum disordersPsychopharmacological treatmentClinical psychiatrySpectrum disorderGlobal functioningDevelopmental trajectoriesExposome scoreGeneral populationSchizophreniaEnvironmental risk factorsPsychopathologyPsychopharmacologyDisordersExposome paradigmPsychiatryPhysical outcomesParadigmEnvironmental exposuresPotential utilityClinical characterizationGenetic and Clinical Characterization of Patients with ADPKD and Intracranial Aneurysms: The PKD-VASC Cohort
Patel P, Besse W, Gulati A, Shaw M, Blumenfeld J, Pei Y, Gitomer B, Perrone R, Caliskan Y, Park H, Yu A, Dahl N, Rahbari-Oskoui F, Somlo S, Watnick T. Genetic and Clinical Characterization of Patients with ADPKD and Intracranial Aneurysms: The PKD-VASC Cohort. Journal Of The American Society Of Nephrology 2024, 35: 10.1681/asn.2024pma0ae6c. DOI: 10.1681/asn.2024pma0ae6c.Peer-Reviewed Original ResearchClinical characterization of patientsCharacterization of patientsClinical characterizationIntracranial aneurysms
2023
Characterization of long COVID temporal sub-phenotypes by distributed representation learning from electronic health record data: a cohort study
Dagliati A, Strasser Z, Abad Z, Klann J, Wagholikar K, Mesa R, Visweswaran S, Morris M, Luo Y, Henderson D, Samayamuthu M, Tan B, Verdy G, Omenn G, Xia Z, Bellazzi R, EHR T, Aaron J, Agapito G, Albayrak A, Albi G, Alessiani M, Alloni A, Amendola D, Angoulvant F, Anthony L, Aronow B, Ashraf F, Atz A, Avillach P, Azevedo P, Balshi J, Beaulieu-Jones B, Bell D, Bellasi A, Bellazzi R, Benoit V, Beraghi M, Bernal-Sobrino J, Bernaux M, Bey R, Bhatnagar S, Blanco-Martínez A, Bonzel C, Booth J, Bosari S, Bourgeois F, Bradford R, Brat G, Bréant S, Brown N, Bruno R, Bryant W, Bucalo M, Bucholz E, Burgun A, Cai T, Cannataro M, Carmona A, Caucheteux C, Champ J, Chen J, Chen K, Chiovato L, Chiudinelli L, Cho K, Cimino J, Colicchio T, Cormont S, Cossin S, Craig J, Cruz-Bermúdez J, Cruz-Rojo J, Dagliati A, Daniar M, Daniel C, Das P, Devkota B, Dionne A, Duan R, Dubiel J, DuVall S, Esteve L, Estiri H, Fan S, Follett R, Ganslandt T, Barrio N, Garmire L, Gehlenborg N, Getzen E, Geva A, Gradinger T, Gramfort A, Griffier R, Griffon N, Grisel O, Gutiérrez-Sacristán A, Han L, Hanauer D, Haverkamp C, Hazard D, He B, Henderson D, Hilka M, Ho Y, Holmes J, Hong C, Huling K, Hutch M, Issitt R, Jannot A, Jouhet V, Kavuluru R, Keller M, Kennedy C, Key D, Kirchoff K, Klann J, Kohane I, Krantz I, Kraska D, Krishnamurthy A, L'Yi S, Le T, Leblanc J, Lemaitre G, Lenert L, Leprovost D, Liu M, Loh N, Long Q, Lozano-Zahonero S, Luo Y, Lynch K, Mahmood S, Maidlow S, Makoudjou A, Malovini A, Mandl K, Mao C, Maram A, Martel P, Martins M, Marwaha J, Masino A, Mazzitelli M, Mensch A, Milano M, Minicucci M, Moal B, Ahooyi T, Moore J, Moraleda C, Morris J, Morris M, Moshal K, Mousavi S, Mowery D, Murad D, Murphy S, Naughton T, Neto C, Neuraz A, Newburger J, Ngiam K, Njoroge W, Norman J, Obeid J, Okoshi M, Olson K, Omenn G, Orlova N, Ostasiewski B, Palmer N, Paris N, Patel L, Pedrera-Jiménez M, Pfaff E, Pfaff A, Pillion D, Pizzimenti S, Prokosch H, Prudente R, Prunotto A, Quirós-González V, Ramoni R, Raskin M, Rieg S, Roig-Domínguez G, Rojo P, Rubio-Mayo P, Sacchi P, Sáez C, Salamanca E, Samayamuthu M, Sanchez-Pinto L, Sandrin A, Santhanam N, Santos J, Vidorreta F, Savino M, Schriver E, Schubert P, Schuettler J, Scudeller L, Sebire N, Serrano-Balazote P, Serre P, Serret-Larmande A, Shah M, Abad Z, Silvio D, Sliz P, Son J, Sonday C, South A, Spiridou A, Strasser Z, Tan A, Tan B, Tan B, Tanni S, Taylor D, Terriza-Torres A, Tibollo V, Tippmann P, Toh E, Torti C, Trecarichi E, Tseng Y, Vallejos A, Varoquaux G, Vella M, Verdy G, Vie J, Visweswaran S, Vitacca M, Wagholikar K, Waitman L, Wang X, Wassermann D, Weber G, Wolkewitz M, Wong S, Xia Z, Xiong X, Ye Y, Yehya N, Yuan W, Zambelli A, Zhang H, Zo¨ller D, Zuccaro V, Zucco C, Murphy S, Holmes J, Estiri H. Characterization of long COVID temporal sub-phenotypes by distributed representation learning from electronic health record data: a cohort study. EClinicalMedicine 2023, 64: 102210. PMID: 37745021, PMCID: PMC10511779, DOI: 10.1016/j.eclinm.2023.102210.Peer-Reviewed Original ResearchElectronic health record dataHealth record dataAdvancing Translational SciencesCohort studyNational InstituteMulti-center observational cohort studyHospitalized COVID-19 patientsObservational cohort studyPost-acute sequelaeRecord dataCOVID-19 patientsHealthcare systemLongitudinal electronic health record dataMedical Research CouncilTranslational scienceNational Medical Research CouncilPASC symptomsJoint painTotal cohortClinical characterizationHigh prevalenceMultiple symptomsNeurological disordersAverage prevalenceInfectious diseasesThe indelible toll of enteric pathogens: Prevalence, clinical characterization, and seasonal trends in patients with acute community-acquired diarrhea in disenfranchised communities
Osman M, Kassem I, Dabboussi F, Cummings K, Hamze M. The indelible toll of enteric pathogens: Prevalence, clinical characterization, and seasonal trends in patients with acute community-acquired diarrhea in disenfranchised communities. PLOS ONE 2023, 18: e0282844. PMID: 36913372, PMCID: PMC10010529, DOI: 10.1371/journal.pone.0282844.Peer-Reviewed Original ResearchConceptsEnteropathogenic E. coliEnteroaggregative Escherichia coliEnterotoxigenic E. coliEnteric pathogensCross-sectional community-based studyAcute community-acquired diarrheaMultivariable logistic regression modelCommon parasitic agentsCommunity-acquired diarrheaCommunity-based studyPublic health challengeLogistic regression modelsGII infectionsAcute diarrheaMiddle-income countriesGastrointestinal PanelDiarrheic patientsEnteric infectionsOverall prevalenceRisk factorsStool samplesClinical characterizationETEC infectionDiarrheal diseaseEtiologic agent
2022
Polygenic risk scores for predicting outcomes and treatment response in psychiatry: hope or hype?
Fusar-Poli L, Rutten B, van Os J, Aguglia E, Guloksuz S. Polygenic risk scores for predicting outcomes and treatment response in psychiatry: hope or hype? International Review Of Psychiatry 2022, 34: 663-675. PMID: 36786114, DOI: 10.1080/09540261.2022.2101352.Peer-Reviewed Original ResearchConceptsPolygenic risk scoresTreatment responseRisk scoreMental disordersDetailed clinical characterizationPresent narrative reviewPotential clinical utilityMajor mental disordersIndividual genetic predispositionRisk stratificationPrognostic evaluationClinical characterizationWide association study datasetsClinical utilityGeneral populationGenetic predispositionNarrative reviewSingle nucleotide polymorphismsPerformance of Xpert MTB/RIF and Mycobacterial Culture on Multiple Specimen Types for Diagnosis of Tuberculosis Disease in Young Children and Clinical Characterization According to Standardized Research Case Definitions
Click ES, Song R, Smith JP, Mchembere W, Fajans M, Hariri P, Okeyo E, McCarthy KD, Gethi D, Odeny L, Musau S, Okumu A, Orwa J, Perez-Velez CM, Wright CA, Andres M, Marais BJ, Schaaf HS, Graham SM, Cruz AT, Cain KP. Performance of Xpert MTB/RIF and Mycobacterial Culture on Multiple Specimen Types for Diagnosis of Tuberculosis Disease in Young Children and Clinical Characterization According to Standardized Research Case Definitions. The Pediatric Infectious Disease Journal 2022, 41: 671-677. PMID: 35703284, PMCID: PMC9288526, DOI: 10.1097/inf.0000000000003582.Peer-Reviewed Original ResearchConceptsXpert MTB/RIFResearch case definitionClinical case definitionMTB/RIFCase definitionIntrathoracic tuberculosisClinical characterizationMycobacterial cultureYoung childrenProspective cohort studyDifferent specimen typesDetailed clinical characterizationMultiple specimen typesSpecimen typesClinical diagnostic approachTB diseaseCohort studyMycobacterium tuberculosis complexParenchymal abnormalitiesConsecutive seriesOutpatient settingTuberculosis diseaseLeading causeXpert testChest radiographsFood Addiction
Jegede O, Olupona T. Food Addiction. 2022, 93-98. DOI: 10.1007/978-3-030-84834-7_6.Peer-Reviewed Original Research
2021
Context v. algorithm: evidence that a transdiagnostic framework of contextual clinical characterization is of more clinical value than categorical diagnosis
van Os J, Pries L, Have M, de Graaf R, van Dorsselaer S, Bak M, Kenis G, Lin B, Gunther N, Luykx J, Rutten B, Guloksuz S. Context v. algorithm: evidence that a transdiagnostic framework of contextual clinical characterization is of more clinical value than categorical diagnosis. Psychological Medicine 2021, 53: 1825-1833. PMID: 37310330, PMCID: PMC10106290, DOI: 10.1017/s0033291721003445.Peer-Reviewed Original ResearchConceptsClinical characterizationPolygenic risk scoresClinical valueProspective general population cohortGeneral population cohortUse of medicationsPopulation attributable fractionPrediction of needDSM-IV diagnosisHealth care outcomesSymptom dimensionsTransdiagnostic frameworkClinical factorsAttributable fractionEtiological factorsRisk scoreCare outcomesCategorical algorithmService usePopulation cohortSociodemographic factorsTransdiagnostic symptom dimensionsPhysical healthDiagnosisDSM diagnosesIntegrative molecular characterization of sarcomatoid and rhabdoid renal cell carcinoma
Bakouny Z, Braun DA, Shukla SA, Pan W, Gao X, Hou Y, Flaifel A, Tang S, Bosma-Moody A, He MX, Vokes N, Nyman J, Xie W, Nassar AH, Abou Alaiwi S, Flippot R, Bouchard G, Steinharter JA, Nuzzo PV, Ficial M, Sant’Angelo M, Forman J, Berchuck JE, Dudani S, Bi K, Park J, Camp S, Sticco-Ivins M, Hirsch L, Baca SC, Wind-Rotolo M, Ross-Macdonald P, Sun M, Lee GM, Chang SL, Wei XX, McGregor BA, Harshman LC, Genovese G, Ellis L, Pomerantz M, Hirsch MS, Freedman ML, Atkins MB, Wu CJ, Ho TH, Linehan WM, McDermott DF, Heng DYC, Viswanathan SR, Signoretti S, Van Allen EM, Choueiri TK. Integrative molecular characterization of sarcomatoid and rhabdoid renal cell carcinoma. Nature Communications 2021, 12: 808. PMID: 33547292, PMCID: PMC7865061, DOI: 10.1038/s41467-021-21068-9.Peer-Reviewed Original ResearchMeSH KeywordsAntineoplastic Agents, ImmunologicalB7-H1 AntigenCarcinoma, Renal CellCTLA-4 AntigenCyclin-Dependent Kinase Inhibitor p16Gene Expression ProfilingGene Expression Regulation, NeoplasticHigh-Throughput Nucleotide SequencingHumansImmune Checkpoint InhibitorsImmune Checkpoint ProteinsKidney NeoplasmsMutationProgrammed Cell Death 1 ReceptorProto-Oncogene Proteins c-mycRetrospective StudiesRhabdoid TumorSignal TransductionSurvival AnalysisTranscription, GeneticTumor Suppressor ProteinsUbiquitin ThiolesteraseConceptsRhabdoid renal cell carcinomaImmune checkpoint inhibitorsRenal cell carcinomaCell carcinomaImmune-inflamed phenotypeIntegrative molecular characterizationPD-L1 expressionReal-world cohortMultiple clinical trialsMYC transcriptional programsMolecular featuresCheckpoint inhibitorsClinical outcomesImmune activationImmunologic characteristicsAggressive tumorsImmune infiltrationClinical trialsClinical characterizationRCC tumorsBAP1 mutationsDistinctive molecular featuresTumorsCDKN2A deletionMolecular drivers
2020
Cutaneous Toxicities of Immune Checkpoint Inhibitors: The Role of the Dermatologist.
Tattersall IW, Leventhal JS. Cutaneous Toxicities of Immune Checkpoint Inhibitors: The Role of the Dermatologist. The Yale Journal Of Biology And Medicine 2020, 93: 123-132. PMID: 32226342, PMCID: PMC7087048.Peer-Reviewed Original ResearchConceptsCutaneous irAEsImmune checkpoint inhibitor therapyCheckpoint inhibitor therapyImmune checkpoint inhibitionImmune checkpoint inhibitorsPotential adverse eventsPotential prognostic significanceNumber of cancersOnly carcinogenesisCheckpoint inhibitorsAdverse eventsCutaneous toxicityInhibitor therapyCheckpoint inhibitionPrognostic significanceCommon siteClinical characterizationPrimary dermatosesIrAEsTherapeutic promiseTreatment of diseasesTherapyCancerTreatmentDermatologists
2019
Respiratory Health after Military Service in Southwest Asia and Afghanistan. An Official American Thoracic Society Workshop Report
Garshick E, Abraham JH, Baird CP, Ciminera P, Downey GP, Falvo MJ, Hart JE, Jackson DA, Jerrett M, Kuschner W, Helmer DA, Jones KD, Krefft SD, Mallon T, Miller RF, Morris MJ, Proctor SP, Redlich CA, Rose CS, Rull RP, Saers J, Schneiderman AI, Smith NL, Yiallouros P, Blanc PD. Respiratory Health after Military Service in Southwest Asia and Afghanistan. An Official American Thoracic Society Workshop Report. Annals Of The American Thoracic Society 2019, 16: e1-e16. PMID: 31368802, PMCID: PMC6774741, DOI: 10.1513/annalsats.201904-344ws.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsConceptsConstrictive bronchiolitisAirway diseaseRespiratory healthOfficial American Thoracic Society Workshop ReportRespiratory tract findingsRespiratory tract abnormalitiesAdverse health conditionsParticulate matter effectsU.S. military personnelLung biopsyLung functionPulmonary functionCase seriesPathologic findingsTract abnormalitiesInhalational exposurePhysiologic changesClinical characterizationAmerican Thoracic Society International ConferenceEpidemiologic studiesBronchiolitisLongitudinal assessmentDeployment exposuresHealth conditionsMore frequent encounters
2018
Superior real‐time polymerase chain reaction detection of Babesia microti parasites in whole blood utilizing high‐copy BMN antigens as amplification targets
Grabias B, Clement J, Krause PJ, Lepore T, Kumar S. Superior real‐time polymerase chain reaction detection of Babesia microti parasites in whole blood utilizing high‐copy BMN antigens as amplification targets. Transfusion 2018, 58: 1924-1932. PMID: 29664114, DOI: 10.1111/trf.14642.Peer-Reviewed Original ResearchConceptsParasites/mLBlood donorsBlood samplesSeroreactive antigensBabesia microti parasitesWhole bloodTransfusion-transmitted infectionsParasite nucleic acidsReal-time polymerase chain reactionWhole blood samplesPolymerase chain reaction detectionPolymerase chain reactionSensitive molecular assaysBlood productsClinical characterizationRT-PCR detectionReal-time polymerase chain reaction detectionLaboratory diagnosisBabesia microtiStudy designInfected ticksDilution panelsAntigenZoonotic diseaseBlood
2017
Estradiol receptor profile and estrogen responsiveness in laryngeal cancer and clinical outcomes
Schwartz N, Verma A, Muktipaty C, Bivens C, Schwartz Z, Boyan BD. Estradiol receptor profile and estrogen responsiveness in laryngeal cancer and clinical outcomes. Steroids 2017, 142: 34-42. PMID: 29274403, DOI: 10.1016/j.steroids.2017.11.012.Peer-Reviewed Original ResearchConceptsLaryngeal cancerReceptor profileCancer cellsLaryngeal cancer patientsAnti-apoptotic effectsSteroid hormone receptorsClassical nuclear receptorsCancer cell linesClinical outcomesAnti-apoptotic potentialCancer patientsLaryngeal tumorsTreatment modalitiesSex hormonesClinical characterizationIndividual patientsEstrogen responsivenessHormone responsivenessDifferent cancer cellsCancerDifferent cancer cell linesHormone receptorsAdverse effectsReceptorsMembrane ER
2016
Inherited erythromelalgia due to mutations in SCN9A: natural history, clinical phenotype and somatosensory profile
McDonnell A, Schulman B, Ali Z, Dib-Hajj SD, Brock F, Cobain S, Mainka T, Vollert J, Tarabar S, Waxman SG. Inherited erythromelalgia due to mutations in SCN9A: natural history, clinical phenotype and somatosensory profile. Brain 2016, 139: 1052-1065. PMID: 26920677, DOI: 10.1093/brain/aww007.Peer-Reviewed Original ResearchConceptsPain attacksQuantitative sensory testingDepression Scale scoresHospital AnxietySomatosensory profilesPain phenotypesOlfaction testingClinical characterizationSensory testingScale scoreNatural historyDepression Scale depression scoreDepth clinical characterizationSodium channelsSeverity of painPattern of painSmall fiber neuropathyTotal Hospital AnxietyWeek observation periodVoltage-gated sodium channelsSame mutationHuman pain syndromesUnaffected sitesOrthostatic hypotensionPain syndrome
2014
Advances in the Evaluation and Management of Esophageal Disease of Systemic Sclerosis
Carlson DA, Hinchcliff M, Pandolfino JE. Advances in the Evaluation and Management of Esophageal Disease of Systemic Sclerosis. Current Rheumatology Reports 2014, 17: 475. PMID: 25475597, PMCID: PMC4343525, DOI: 10.1007/s11926-014-0475-y.Peer-Reviewed Original ResearchConceptsSystemic sclerosisEsophageal diseaseAbnormal esophageal acid exposureGastroesophageal reflux disease treatmentSymptoms of heartburnEsophageal acid exposureProton pump inhibitorsEsophageal dysmotilityPump inhibitorsGERD managementObjective findingsReflux monitoringClinical characterizationEndoscopic ultrasoundAcid exposureImpedance planimetryDiagnostic testingDiseaseDisease treatmentSclerosisPatientsTreatmentDysmotilityHeartburnDysphagiaCharacterization of Cardiac Dysfunction in Sepsis
Zaky A, Deem S, Bendjelid K, Treggiari MM. Characterization of Cardiac Dysfunction in Sepsis. Shock 2014, 41: 12-24. PMID: 24351526, DOI: 10.1097/shk.0000000000000065.Peer-Reviewed Original ResearchConceptsSepsis-induced cardiomyopathyIntrinsic contractile functionContractile functionIntrinsic myocardial dysfunctionIntrinsic myocardial functionGlobal ventricular performanceCommon morbid conditionSevere sepsisSeptic shockCardiac dysfunctionHemodynamic assessmentMyocardial dysfunctionCardiac outputPeripheral circulationVentricular performanceAdditional potential mechanismMyocardial functionMorbid conditionsClinical characterizationCurrent evidenceHeart functionPhysiologic mechanismsPhysiopathological pathwaysAnimal modelsCellular signaling mechanisms
2011
Pitfalls in avoiding operation for autoimmune pancreatitis
Learn P, Grossman E, K.G. R, Allen P, Brennan M, D’Angelica M, DeMatteo R, Fong Y, Klimstra D, Schattner M, Jarnagin W. Pitfalls in avoiding operation for autoimmune pancreatitis. Surgery 2011, 150: 968-974. PMID: 21893326, DOI: 10.1016/j.surg.2011.06.015.Peer-Reviewed Original ResearchConceptsAutoimmune pancreatitisPretreatment fine-needle aspirationDiagnosis of autoimmune pancreatitisInaccurate preoperative diagnosisAdequate clinical dataPostoperative disease recurrenceRecurrence of diseaseFine-needle aspirationDisease recurrenceIgG4 levelsOperative procedurePancreatic resectionPreoperative diagnosisPretreatment imagingClinical courseInitial presentationInstitutional cohortNeedle aspirationInitial treatmentPancreatic enlargementClinical dataCytologic evaluationOperative interventionPancreatitisClinical characterization
2010
Seeing with new eyes: Finding a path to early intervention trials in Alzheimer's disease
Cedarbaum JM, Crans G, Grundman M. Seeing with new eyes: Finding a path to early intervention trials in Alzheimer's disease. The Journal Of Nutrition, Health & Aging 2010, 14: 306-309. PMID: 20306002, DOI: 10.1007/s12603-010-0069-y.Peer-Reviewed Original ResearchConceptsMild cognitive impairmentAlzheimer's diseaseOutcome measuresClinical Dementia Rating SumClinical staging algorithmsPrimary outcome measureAD clinical trialsEarly intervention trialsComprehensive outcome measuresIdentification of MCIClinical courseIntervention trialsAD patientsClinical trialsDementia pathologyClinical characterizationCognitive impairmentEarly identificationDegenerative disordersNormal cognitionStaging algorithmDiseaseBiomarker informationBiomarker dataTrials
2009
Tracking the Anatomical Contents of the Quadrilateral Space: Clinical Implications
Frumberg D, Beckman M, Marquez S. Tracking the Anatomical Contents of the Quadrilateral Space: Clinical Implications. The FASEB Journal 2009, 23: 822.3-822.3. DOI: 10.1096/fasebj.23.1_supplement.822.3.Peer-Reviewed Original ResearchPosterior circumflex humeral arteryProfunda brachii arteryAxillary nerveQuadrilateral spaceCircumflex humeral arterySuccessful rehabilitation outcomesDeltoid weaknessPostoperative bleedingStrength of associationBrachial arteryHumeral arteryArterial patternArterial variationsClinical characterizationRehabilitation outcomesArteryClinical implicationsScapular regionBilateral deviationsRight sideAnatomical studyShoulder regionSyndromeCadaversGrant funding sources
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