2023
FKBP14 kyphoscoliotic Ehlers–Danlos syndrome misdiagnosed as Larsen syndrome: a case report
Wiegand A, Kastury R, Neogi A, Mani A, Bale A, Cox A. FKBP14 kyphoscoliotic Ehlers–Danlos syndrome misdiagnosed as Larsen syndrome: a case report. Molecular Case Studies 2023, 9: a006281. PMID: 37433679, PMCID: PMC10393184, DOI: 10.1101/mcs.a006281.Peer-Reviewed Original ResearchConceptsHereditary connective tissue disordersConnective tissue disordersKyphoscoliotic Ehlers-Danlos syndromeTissue disordersEhlers-Danlos syndromeLarsen syndromeClinical diagnosisGenetic testingHereditary cancer predisposition syndromesSignificant vascular eventsPremenopausal breast cancerPast medical historyHomozygous pathogenic variantCancer predisposition syndromeWhole-exome sequencingMolecular genetic testingCardiovascular eventsCarotid dissectionVascular eventsCardiovascular manifestationsCase reportMedical historyRecent diagnosisBreast cancerEarly diagnosis
2020
Exome sequencing analysis on products of conception: a cohort study to evaluate clinical utility and genetic etiology for pregnancy loss
Zhao C, Chai H, Zhou Q, Wen J, Reddy UM, Kastury R, Jiang Y, Mak W, Bale AE, Zhang H, Li P. Exome sequencing analysis on products of conception: a cohort study to evaluate clinical utility and genetic etiology for pregnancy loss. Genetics In Medicine 2020, 23: 435-442. PMID: 33100332, DOI: 10.1038/s41436-020-01008-6.Peer-Reviewed Original ResearchConceptsProducts of conceptionAbnormality detection rateLikely pathogenic variantsSpontaneous abortionPregnancy lossPathogenic variantsExome sequencingClinical utilityGenetic etiologyExome sequencing analysisPathogenic copy number variantsCohort studyFetal deathRenal diseaseMethodsA cohortSubsequent pregnancyCardiac anomaliesMonogenic etiologyMetabolic disordersRecurrence riskMultisystem abnormalitiesDiagnostic valueConclusionThese resultsMonogenic causesStillbirth
2019
Clinical utility of genomic analysis in adults with idiopathic liver disease
Hakim A, Zhang X, DeLisle A, Oral EA, Dykas D, Drzewiecki K, Assis DN, Silveira M, Batisti J, Jain D, Bale A, Mistry PK, Vilarinho S. Clinical utility of genomic analysis in adults with idiopathic liver disease. Journal Of Hepatology 2019, 70: 1214-1221. PMID: 31000363, PMCID: PMC6526061, DOI: 10.1016/j.jhep.2019.01.036.Peer-Reviewed Original ResearchConceptsIdiopathic liver diseaseUnexplained liver diseaseManagement of adultsWhole-exome sequencingLiver diseaseAdult patientsUnknown etiologyHeterozygous variantsUse of WESAmelioration of dyslipidemiaDaily insulin requirementLeptin replacement therapyUtility of WESChronic liver diseaseNon-alcoholic steatohepatitisAcademic health care centerHealth care centersHomozygous pathogenic variantUnrelated adult patientsNon-oncological diseasesDisease preventive measuresInsulin requirementsLean patientsDevastating complicationLiver aminotransferases
2018
A homozygous variant in RRM2B is associated with severe metabolic acidosis and early neonatal death
Penque BA, Su L, Wang J, Ji W, Bale A, Luh F, Fulbright RK, Sarmast U, Sega AG, Konstantino M, Spencer-Manzon M, Pierce R, Yen Y, Lakhani SA. A homozygous variant in RRM2B is associated with severe metabolic acidosis and early neonatal death. European Journal Of Medical Genetics 2018, 62: 103574. PMID: 30439532, DOI: 10.1016/j.ejmg.2018.11.008.Peer-Reviewed Original Research
2017
Spectrum of germline mutations in smokers and non-smokers in Brazilian non-small-cell lung cancer (NSCLC) patients
Couto PP, Bastos-Rodrigues L, Schayek H, Melo FM, Lisboa RGC, Miranda DM, Vilhena A, Bale AE, Friedman E, De Marco L. Spectrum of germline mutations in smokers and non-smokers in Brazilian non-small-cell lung cancer (NSCLC) patients. Carcinogenesis 2017, 38: 1112-1118. PMID: 28968711, DOI: 10.1093/carcin/bgx089.Peer-Reviewed Original ResearchConceptsCell lung cancer patientsLung cancer patientsLung cancerSmoking statusCancer patientsWhole-exome sequencingGermline mutationsTP53 mutationsTP53 germline mutationsCell lung cancerCancer-related mortalityDistinct pathogenic mutationsMajor risk factorTumor-derived DNAMultiple cancer typesSmoker patientsGermline missense variantsNovel sequence variantsRisk factorsLeading causeR337H TP53 mutationLC pathogenesisSame patientLC casesPatientsPredictors of tanning dependence in white non‐Hispanic females and males
Cartmel B, Bale AE, Mayne ST, Gelernter JE, DeWan AT, Spain P, Leffell DJ, Pagoto S, Ferrucci LM. Predictors of tanning dependence in white non‐Hispanic females and males. Journal Of The European Academy Of Dermatology And Venereology 2017, 31: 1223-1228. PMID: 28129487, PMCID: PMC5522341, DOI: 10.1111/jdv.14138.Peer-Reviewed Original ResearchConceptsEarly-onset basal cell carcinomaCase-control studyBasal cell carcinomaWhite non-Hispanic femalesSymptoms of dependenceCell carcinomaNon-Hispanic femalesAlcohol dependenceMental disordersAppropriate interventionsHost factorsNon-HispanicsStatistical ManualMultivariate modelIndoor tanningSignificant predictorsOnline surveyFourth EditionPredictorsEuropean ancestryQuestionnaireEye openerEye colorParticipantsCarcinomaApplication of Whole Exome Sequencing in the Clinical Diagnosis and Management of Inherited Cardiovascular Diseases in Adults
Seidelmann SB, Smith E, Subrahmanyan L, Dykas D, Abou Ziki MD, Azari B, Hannah-Shmouni F, Jiang Y, Akar JG, Marieb M, Jacoby D, Bale AE, Lifton RP, Mani A. Application of Whole Exome Sequencing in the Clinical Diagnosis and Management of Inherited Cardiovascular Diseases in Adults. Circulation Genomic And Precision Medicine 2017, 10: e001573. PMID: 28087566, PMCID: PMC5245580, DOI: 10.1161/circgenetics.116.001573.Peer-Reviewed Original ResearchConceptsWhole-exome sequencingSudden cardiac deathCardiovascular diseaseClinical diagnosisExome sequencingCardiac deathInherited cardiovascular diseaseCentre of careNovel candidate genesValuable screening toolAdult patientsRisk stratificationPrimary insultCardiac functionGenetic testingScreening toolDiagnosisCVD genesGenetic causeCardiovascular geneticsGenetic panelSuccess rateExome databasesPotential disease associationsPatients
2016
Defining the polyposis/colorectal cancer phenotype associated with the Ashkenazi GREM1 duplication: counselling and management recommendations
ZIAI J, MATLOFF E, CHOI J, KOMBO N, MATERIN M, BALE AE. Defining the polyposis/colorectal cancer phenotype associated with the Ashkenazi GREM1 duplication: counselling and management recommendations. Genetics Research 2016, 98: e5. PMID: 26947005, PMCID: PMC6865171, DOI: 10.1017/s0016672316000021.Peer-Reviewed Original ResearchConceptsMixed polyposisExtensive genetic testingComprehensive clinical evaluationColorectal cancer phenotypeCancer phenotypeHereditary colon cancerAutosomal dominant conditionClinical evaluationAshkenazi patientsColon cancer phenotypeColon cancerJuvenile polypsJewish patientsAshkenazi Jewish familiesGenetic testingPolyposisPatientsDominant conditionColon cancer genesPrevious reportsPhenotypeCancer genesManagement recommendations
2014
Individual exome analysis in diagnosis and management of paediatric liver failure of indeterminate aetiology
Vilarinho S, Choi M, Jain D, Malhotra A, Kulkarni S, Pashankar D, Phatak U, Patel M, Bale A, Mane S, Lifton RP, Mistry PK. Individual exome analysis in diagnosis and management of paediatric liver failure of indeterminate aetiology. Journal Of Hepatology 2014, 61: 1056-1063. PMID: 25016221, PMCID: PMC4203706, DOI: 10.1016/j.jhep.2014.06.038.Peer-Reviewed Original ResearchMeSH KeywordsAmino Acid SequenceBase SequenceCarboxylic Ester HydrolasesChildCholestasisDNA Mutational AnalysisEnd Stage Liver DiseaseExomeFatal OutcomeFemaleGenes, RecessiveHepatolenticular DegenerationHeterozygoteHomozygoteHumansInfant, NewbornLiver FailureLiver Failure, AcuteMaleMembrane ProteinsMitochondrial ProteinsMolecular Sequence DataPedigreeReceptor, Notch2RNA Splice SitesSequence Homology, Amino AcidConceptsFatal acute liver failureWhole-exome sequencingAdvanced liver diseaseAcute liver failureIndeterminate etiologyYear old femaleLiver failureLiver diseaseMetabolic liver diseasePatient 3Treatment optionsPhenotypic spectrumPediatric liver failureDecompensated liver cirrhosisManagement of childrenOptimal treatment optionsAge 3 monthsNovel inborn errorLiver transplantAtypical presentationLiver cirrhosisHepatocerebral mitochondrial DNA depletion syndromePatient 1Patient 2Unknown etiologySystemic glucocorticoid use and early-onset basal cell carcinoma
Troche JR, Ferrucci LM, Cartmel B, Leffell DJ, Bale AE, Mayne ST. Systemic glucocorticoid use and early-onset basal cell carcinoma. Annals Of Epidemiology 2014, 24: 625-627. PMID: 24958637, PMCID: PMC4119504, DOI: 10.1016/j.annepidem.2014.05.009.Peer-Reviewed Original ResearchSpectrum of somatic EGFR, KRAS, BRAF, PTEN mutations and TTF-1 expression in Brazilian lung cancer patients
CARNEIRO JG, COUTO PG, BASTOS-RODRIGUES L, BICALHO MA, VIDIGAL PV, VILHENA A, AMARAL NF, BALE AE, FRIEDMAN E, DE MARCO L. Spectrum of somatic EGFR, KRAS, BRAF, PTEN mutations and TTF-1 expression in Brazilian lung cancer patients. Genetics Research 2014, 96: e002. PMID: 24594201, PMCID: PMC7045132, DOI: 10.1017/s0016672314000032.Peer-Reviewed Original ResearchMeSH KeywordsAdenocarcinomaAdultAgedAged, 80 and overBrazilCarcinoma, Non-Small-Cell LungCarcinoma, Squamous CellCase-Control StudiesDNA-Binding ProteinsErbB ReceptorsFemaleGenetic Predisposition to DiseaseHumansImmunoenzyme TechniquesLung NeoplasmsMaleMiddle AgedMutationNeoplasm StagingPolymerase Chain ReactionPrognosisProto-Oncogene ProteinsProto-Oncogene Proteins B-rafProto-Oncogene Proteins p21(ras)PTEN PhosphohydrolaseRas ProteinsTranscription FactorsConceptsNon-small cell lung cancerSquamous cell carcinomaTTF-1 expressionLung cancerTTF-1PTEN mutationsBrazilian lung cancer patientsCancer typesPI3K pathway inhibitorsCell lung cancerCancer-related mortalityLung cancer patientsSomatic mutationsCommon somatic mutationsNSCLC patientsInter-individual variabilityCancer patientsEGFR mutationsTherapeutic responseBrazilian patientsHigh prevalenceKRAS mutationsLung adenocarcinomaSomatic EGFRTreatment responseCo-occurrence of Risk Alleles in or Near Genes Modulating Insulin Secretion Predisposes Obese Youth to Prediabetes
Giannini C, Man C, Groop L, Cobelli C, Zhao H, Shaw MM, Duran E, Pierpont B, Bale AE, Caprio S, Santoro N. Co-occurrence of Risk Alleles in or Near Genes Modulating Insulin Secretion Predisposes Obese Youth to Prediabetes. Diabetes Care 2014, 37: 475-482. PMID: 24062323, PMCID: PMC3898754, DOI: 10.2337/dc13-1458.Peer-Reviewed Original ResearchConceptsIGT/T2DImpaired glucose toleranceNormal glucose toleranceInsulin secretionRisk allelesGlucose toleranceObese childrenChance of progressionType 2 diabetesHigh genetic predispositionHigh-risk scoreOral minimal modelObese subjectsPediatric obesityProgressive worseningHyperglycemic clampObese youthHigh riskLower oddsRisk scoreGenetic predispositionT2DSecretionGene variantsEarly phase
2013
Indoor Tanning and Tanning Dependence in Young People After a Diagnosis of Basal Cell Carcinoma
Cartmel B, Ferrucci LM, Spain P, Bale AE, Pagoto SL, Leffell DJ, Gelernter J, Mayne ST. Indoor Tanning and Tanning Dependence in Young People After a Diagnosis of Basal Cell Carcinoma. JAMA Dermatology 2013, 149: 1110-1111. PMID: 23824273, PMCID: PMC3782995, DOI: 10.1001/jamadermatol.2013.5104.Peer-Reviewed Original Research
2012
Lifetime history of indoor tanning in young people: a retrospective assessment of initiation, persistence, and correlates
Lostritto K, Ferrucci LM, Cartmel B, Leffell DJ, Molinaro AM, Bale AE, Mayne ST. Lifetime history of indoor tanning in young people: a retrospective assessment of initiation, persistence, and correlates. BMC Public Health 2012, 12: 118. PMID: 22324969, PMCID: PMC3340300, DOI: 10.1186/1471-2458-12-118.Peer-Reviewed Original Research
2011
Variant in the glucokinase regulatory protein (GCKR) gene is associated with fatty liver in obese children and adolescents
Santoro N, Zhang CK, Zhao H, Pakstis AJ, Kim G, Kursawe R, Dykas DJ, Bale AE, Giannini C, Pierpont B, Shaw MM, Groop L, Caprio S. Variant in the glucokinase regulatory protein (GCKR) gene is associated with fatty liver in obese children and adolescents. Hepatology 2011, 55: 781-789. PMID: 22105854, PMCID: PMC3288435, DOI: 10.1002/hep.24806.Peer-Reviewed Original ResearchMeSH KeywordsAdaptor Proteins, Signal TransducingAdolescentApolipoprotein C-IIIBlack or African AmericanChildFatty LiverFemaleGene FrequencyGenetic Predisposition to DiseaseHaplotypesHispanic or LatinoHumansLipaseLipoproteins, VLDLMaleMembrane ProteinsObesityPolymorphism, Single NucleotideRisk FactorsTriglyceridesWhite PeopleConceptsFatty liverObese childrenSingle nucleotide polymorphismsTriglyceride levelsOral glucose tolerance testGlucokinase regulatory proteinGlucose tolerance testHepatic fat accumulationAccumulation of triglyceridesLow-density lipoproteinElevated triglyceridesLarge VLDLTolerance testFat accumulationObese youthGlucokinase regulatory protein geneMagnetic resonancePNPLA3LiverRs1260326African AmericansTriglyceridesLipoproteinChildrenNucleotide polymorphismsIndoor tanning and risk of early-onset basal cell carcinoma
Ferrucci LM, Cartmel B, Molinaro AM, Leffell DJ, Bale AE, Mayne ST. Indoor tanning and risk of early-onset basal cell carcinoma. Journal Of The American Academy Of Dermatology 2011, 67: 552-562. PMID: 22153793, PMCID: PMC3307842, DOI: 10.1016/j.jaad.2011.11.940.Peer-Reviewed Original ResearchConceptsEarly-onset basal cell carcinomaBasal cell carcinomaIndoor tanningCell carcinomaOdds ratioMultiple basal cell carcinomasBenign skin conditionsStrong risk factorConfidence intervalsMultivariate logistic regressionPotential recall biasYears of ageExposure-disease relationshipsIndoor tanning devicesAge of initiationRisk factorsBiopsy siteEpidemiologic studiesSkin conditionsReferent groupControl populationTanning devicesLogistic regressionRecall biasIndoor tannersHost Phenotype Characteristics and MC1R in Relation to Early-Onset Basal Cell Carcinoma
Ferrucci LM, Cartmel B, Molinaro AM, Gordon PB, Leffell DJ, Bale AE, Mayne ST. Host Phenotype Characteristics and MC1R in Relation to Early-Onset Basal Cell Carcinoma. Journal Of Investigative Dermatology 2011, 132: 1272-1279. PMID: 22158557, PMCID: PMC3305835, DOI: 10.1038/jid.2011.402.Peer-Reviewed Original ResearchConceptsDermatopathology databaseSkin reactionsCase statusBasal cell carcinoma incidenceMelanocortin 1 receptor gene variantsNon-synonymous variantsBenign skin conditionsBasal cell carcinomaReceptor gene variantsCarcinoma incidenceCell carcinomaBCC riskEpidemiologic studiesSelf-reported phenotypesLower riskSkin conditionsBCC casesSkin cancerOlder populationYoung individualsGene variantsPhenotype-genotype interactionsHost characteristicsPhenotype characteristicSkin colorHereditary Melanoma
Bonadies DC, Bale AE. Hereditary Melanoma. Current Problems In Cancer 2011, 35: 162-172. PMID: 21911180, DOI: 10.1016/j.currproblcancer.2011.07.001.Peer-Reviewed Original Research
2010
A common variant in the patatin‐like phospholipase 3 gene (PNPLA3) is associated with fatty liver disease in obese children and adolescents
Santoro N, Kursawe R, D'Adamo E, Dykas DJ, Zhang CK, Bale AE, Calí AM, Narayan D, Shaw MM, Pierpont B, Savoye M, Lartaud D, Eldrich S, Cushman SW, Zhao H, Shulman GI, Caprio S. A common variant in the patatin‐like phospholipase 3 gene (PNPLA3) is associated with fatty liver disease in obese children and adolescents. Hepatology 2010, 52: 1281-1290. PMID: 20803499, PMCID: PMC3221304, DOI: 10.1002/hep.23832.Peer-Reviewed Original ResearchConceptsPatatin-like phospholipase 3 geneNonalcoholic fatty liver diseaseFatty liver diseaseG alleleHepatic steatosisLiver diseaseLow leptinObese youthPeripheral glucose disposal rateAdipogenesis/lipogenesisHepatic glucose production ratePNPLA3 G alleleGlucose disposal ratePeripheral insulin resistanceSingle nucleotide polymorphismsSirtuin 1 expressionSubcutaneous fat biopsiesHepatic fat contentAdipocyte cell sizeSubset of subjectsAdipose cell sizeMagnetic resonance imagingAfrican AmericansCommon variantsExpression of PNPLA3
2008
MEN1 and FANCD2 mediate distinct mechanisms of DNA crosslink repair
Marek LR, Kottemann MC, Glazer PM, Bale AE. MEN1 and FANCD2 mediate distinct mechanisms of DNA crosslink repair. DNA Repair 2008, 7: 476-486. PMID: 18258493, PMCID: PMC2277339, DOI: 10.1016/j.dnarep.2007.12.009.Peer-Reviewed Original ResearchConceptsGenetic interaction studiesFanconi anemia genesDNA crosslink repairVivo reporter systemLoss of Men1Large deletionsMutation frequencyTumor suppressor geneSame repair processICL sensitivityRepair processSingle base deletionDrosophila geneticsCrosslink repairICL repairGenetic interactionsMutant fliesCell mutantsFA genesHomopolymeric tractsReporter systemWild typeMutantsInteraction studiesSuppressor gene