2023
Advancing diagnosis and management of liver disease in adults through exome sequencing
Zheng M, Hakim A, Konkwo C, Deaton A, Ward L, Genetics A, Silveira M, Assis D, Liapakis A, Jaffe A, Jiang Z, Curry M, Lai M, Cho M, Dykas D, Bale A, Mistry P, Vilarinho S. Advancing diagnosis and management of liver disease in adults through exome sequencing. EBioMedicine 2023, 95: 104747. PMID: 37566928, PMCID: PMC10433007, DOI: 10.1016/j.ebiom.2023.104747.Peer-Reviewed Original ResearchConceptsLiver diseaseWhole-exome sequencingUnknown etiologyTertiary referral academic medical centerReferral academic medical centerExome sequencingLiver disease patientsManagement of adultsAcademic health care centerComprehensive clinical evaluationHealth care centersAcademic medical centerGenetic variantsRare genetic variantsAdult patientsLiver centersHepatic steatosisDisease patientsClinical evaluationCare centerFamily historyMedical CenterClinical valueAdult medicinePatients
2022
A retrospective cohort analysis of the Yale pediatric genomics discovery program
Al‐Ali S, Jeffries L, Faustino EVS, Ji W, Mis E, Konstantino M, Zerillo C, Jiang Y, Spencer‐Manzon M, Bale A, Zhang H, McGlynn J, McGrath JM, Tremblay T, Brodsky NN, Lucas CL, Pierce R, Deniz E, Khokha MK, Lakhani SA. A retrospective cohort analysis of the Yale pediatric genomics discovery program. American Journal Of Medical Genetics Part A 2022, 188: 2869-2878. PMID: 35899841, PMCID: PMC9474639, DOI: 10.1002/ajmg.a.62918.Peer-Reviewed Original ResearchConceptsRetrospective cohort analysisNext-generation sequencingCohort analysisSystem abnormalitiesImmune system abnormalitiesCardiovascular system abnormalitiesFunctional molecular analysesNovel genesPrecise molecular diagnosisClinical characteristicsFurther genetic evaluationDiscovery programsComplex patientsMultisystem diseaseDisease genesPediatric providersRare genetic diseaseNew diagnosisPhenotype relationshipsPatientsGenetic diseasesMolecular analysisDiagnosisParticipant demographicsNGS resultsDetecting regions of homozygosity improves the diagnosis of pathogenic variants and uniparental disomy in pediatric patients
Wen J, Chai H, Grommisch B, DiAdamo A, Dykas D, Ma D, Popa A, Zhao C, Spencer‐Manzon M, Jiang Y, McGrath J, Li P, Bale A, Zhang H. Detecting regions of homozygosity improves the diagnosis of pathogenic variants and uniparental disomy in pediatric patients. American Journal Of Medical Genetics Part A 2022, 188: 1728-1738. PMID: 35199448, DOI: 10.1002/ajmg.a.62693.Peer-Reviewed Original ResearchConceptsPediatric patientsWhole-exome sequencingCase seriesAR diseasesPathogenic variantsLarge consecutive case seriesConsecutive case seriesLarge case seriesUniparental disomyLikely pathogenic variantsRegions of homozygosityChromosomal microarray analysisAutosomal recessive diseasePrader-Willi syndromeDiagnostic findingsDiagnostic yieldPatientsPredictive valueGenetic testingHomozygous variantDiseaseExome sequencingRecessive diseaseGenetic counselingStrongest predictor
2019
Genes Associated with Thoracic Aortic Aneurysm and Dissection: 2019 Update and Clinical Implications
Vinholo T, Brownstein AJ, Ziganshin BA, Zafar MA, Kuivaniemi H, Body SC, Bale AE, Elefteriades JA. Genes Associated with Thoracic Aortic Aneurysm and Dissection: 2019 Update and Clinical Implications. Aorta 2019, 07: 099-107. PMID: 31842235, PMCID: PMC6914358, DOI: 10.1055/s-0039-3400233.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 casesPatientsWhole-exome sequencing in evaluation of patients with venous thromboembolism
Lee EJ, Dykas DJ, Leavitt AD, Camire RM, Ebberink E, García de Frutos P, Gnanasambandan K, Gu SX, Huntington JA, Lentz SR, Mertens K, Parish CR, Rezaie AR, Sayeski PP, Cromwell C, Bar N, Halene S, Neparidze N, Parker TL, Burns AJ, Dumont A, Yao X, Chaar CIO, Connors JM, Bale AE, Lee AI. Whole-exome sequencing in evaluation of patients with venous thromboembolism. Blood Advances 2017, 1: 1224-1237. PMID: 29296762, PMCID: PMC5728544, DOI: 10.1182/bloodadvances.2017005249.Peer-Reviewed Original ResearchWhole-exome sequencingVenous thromboembolismStudy patientsThrombophilia panelVTE patientsHeritable thrombophiliaThrombophilia testingDisease-causing genetic variantsEvaluation of patientsControl patientsThrombophilia mutationsProtein modelingThrombotic historyProtein structurePatientsThrombophilia genesVTE pathogenesisWES variantsUnknown significanceThrombophiliaGenetic variantsGenesPrior reportsSequencingThromboembolismApplication 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
2006
Cytogenetic Instability in Ovarian Epithelial Cells from Women at Risk of Ovarian Cancer
Pejovic T, Yates JE, Liu HY, Hays LE, Akkari Y, Torimaru Y, Keeble W, Rathbun RK, Rodgers WH, Bale AE, Ameziane N, Zwaan CM, Errami A, Thuillier P, Cappuccini F, Olson SB, Cain JM, Bagby GC. Cytogenetic Instability in Ovarian Epithelial Cells from Women at Risk of Ovarian Cancer. Cancer Research 2006, 66: 9017-9025. PMID: 16982743, DOI: 10.1158/0008-5472.can-06-0222.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedChromosome BreakageDNA MethylationDNA, ComplementaryEpithelial CellsFanconi Anemia Complementation Group D2 ProteinFemaleGene SilencingGenes, BRCA1Genetic Predisposition to DiseaseGenomic InstabilityGerm-Line MutationHumansMiddle AgedMitomycinOvarian NeoplasmsOvaryPromoter Regions, GeneticReverse Transcriptase Polymerase Chain ReactionRNA, MessengerConceptsOvarian cancerMitomycin CBRCA2 mutationsOnset of carcinomaEpithelial cellsHigh-risk womenOvarian cancer patientsBRCA1 germ-line mutationsOvarian surface epithelial cellsSensitive screening strategyFamilial ovarian cancerOvarian epithelial cellsSurface epithelial cellsGerm-line mutationsCancer patientsFrequent findingNormal ovariesFamily historyHigh riskControl groupPatientsCancerCytogenetic instabilityPrimary culturesScreening strategy
2005
Clinical testing for multiple endocrine neoplasia type 1 in a DNA diagnostic laboratory
Klein RD, Salih S, Bessoni J, Bale AE. Clinical testing for multiple endocrine neoplasia type 1 in a DNA diagnostic laboratory. Genetics In Medicine 2005, 7: 131-138. PMID: 15714081, DOI: 10.1097/01.gim.0000153663.62300.f8.Peer-Reviewed Original ResearchConceptsPituitary tumorsSporadic patientsIslet neoplasiaMEN1 mutationsMultiple endocrine neoplasia type 1Islet cell neoplasiaMEN1 genePancreatic islet tumorsFrameshift deletion mutationClinical featuresSomatic mosaicismPancreatic neoplasmsCell neoplasiaHyperparathyroidismBlood samplesPatientsClinical testingIslet tumorsSporadic casesType 1TumorsFamilial casesNeoplasiaSplice site mutationDNA diagnostic laboratories
2004
Incidence of BRCA1 and BRCA2 Mutations in Young Korean Breast Cancer Patients
Choi DH, Lee MH, Bale AE, Carter D, Haffty BG. Incidence of BRCA1 and BRCA2 Mutations in Young Korean Breast Cancer Patients. Journal Of Clinical Oncology 2004, 22: 1638-1645. PMID: 15117986, DOI: 10.1200/jco.2004.04.179.Peer-Reviewed Original ResearchConceptsBreast cancerOvarian cancerBRCA2 mutationsFamily historyYounger ageKorean breast cancer patientsKorean womenIncidence of BRCA1Breast cancer patientsAge 40 yearsPrevalence of BRCA1Paraffin-embedded tissue blocksKorean patientsPeripheral bloodCancer patientsEtiologic factorsP53 overexpressionBreast carcinomaImmunohistochemical stainingPatientsKorean populationBRCA genesCancerUnknown significanceCyclin D1
1999
Mutational Analyses of Candidate Genes in Human Squamous Cell Carcinomas
Petroianu A, Boson W, Bale A, Friedman E, De Marco L. Mutational Analyses of Candidate Genes in Human Squamous Cell Carcinomas. The Laryngoscope 1999, 109: 661-663. PMID: 10201760, DOI: 10.1097/00005537-199904000-00027.Peer-Reviewed Original ResearchConceptsSquamous cell carcinomaCell carcinomaPolymerase chain reactionPrimary squamous cell carcinomaHuman squamous cell carcinomaEvidence of mutationsPresence of mutationsCommon malignancyUnselected populationCarcinomaStudy designMajor causeChain reactionPatientsCandidate genesPatched geneMolecular mechanismsTumorigenesisMutationsSequence alterationsMalignancyConformational polymorphismTumorsGenesMortality
1997
Complications of the Nevoid Basal Cell Carcinoma Syndrome
Walter A, Pivnick E, Bale A, Kun L. Complications of the Nevoid Basal Cell Carcinoma Syndrome. Journal Of Pediatric Hematology/Oncology 1997, 19: 258-262. PMID: 9201152, DOI: 10.1097/00043426-199705000-00016.Peer-Reviewed Original ResearchConceptsNevoid basal cell carcinoma syndromeBasal cell carcinoma syndromeBasal cell carcinomaCell carcinomaCarcinoma syndromeRadiation therapyAdditional basal cell carcinomasTumor DNAMultiple basal cell carcinomasCase reportCutaneous tumorsUnaffected family membersLoss of heterozygosityCarcinomaPatientsSyndromeTherapyGermline DNAMedulloblastomaPhotodynamic therapyGenetic lesionsFamily membersChildrenComplicationsNeoplasms
1996
Mutations in the human homologue of the Drosophila patched gene in Caucasian and African-American nevoid basal cell carcinoma syndrome patients.
Chidambaram A, Goldstein AM, Gailani MR, Gerrard B, Bale SJ, DiGiovanna JJ, Bale AE, Dean M. Mutations in the human homologue of the Drosophila patched gene in Caucasian and African-American nevoid basal cell carcinoma syndrome patients. Cancer Research 1996, 56: 4599-601. PMID: 8840969.Peer-Reviewed Original ResearchConceptsNevoid basal cell carcinoma syndromeNBCCS patientsMultiple basal cell carcinomasNevoid basal cell carcinoma syndrome patientsBasal cell carcinoma syndromeMultisystem autosomal dominant disorderBasal cell carcinomaAutosomal dominant disorderOvarian fibromaCell carcinomaSuch tumorsSyndrome patientsCarcinoma syndromePlantar pitsOdontogenic keratocystsEctopic calcificationGorlin syndromeClinical phenotypeDevelopmental anomaliesSyndromePatientsDominant disorderIntrafamilial variabilityTumorsHuman homologueMolecular analysis of chromosome 9q deletions in two Gorlin syndrome patients.
Shimkets R, Gailani M, Siu V, Yang-Feng T, Pressman C, Levanat S, Goldstein A, Dean M, Bale A. Molecular analysis of chromosome 9q deletions in two Gorlin syndrome patients. American Journal Of Human Genetics 1996, 59: 417-22. PMID: 8755929, PMCID: PMC1914731.Peer-Reviewed Original ResearchConceptsGorlin syndromeGorlin syndrome patientsSyndrome patientsMultiple basal cell carcinomasConductive hearing lossBasal cell carcinomaAllelic lossCancer predisposition syndromeAutosomal dominant disorderGerm-line deletionOvarian fibromaSecond patientCell carcinomaHearing lossGroup AGroup CPatientsSyndromeDominant mutationsSignificant phenotypic variabilityGorlin syndrome geneDominant disorderNull mutationXeroderma pigmentosum group AIdentical alterations
1994
Molecular Mechanisms of Neoplasia in Multiple Endocrine Neoplasia Type 1-Related and Sporadic Tumors of the Pancreatic Islet Cells
Bale A. Molecular Mechanisms of Neoplasia in Multiple Endocrine Neoplasia Type 1-Related and Sporadic Tumors of the Pancreatic Islet Cells. Endocrinology And Metabolism Clinics Of North America 1994, 23: 109-115. PMID: 7913019, DOI: 10.1016/s0889-8529(18)30119-1.Peer-Reviewed Original ResearchConceptsPancreatic islet tumorsIslet tumorsMEN 1Islet cellsMultiple endocrine neoplasia type 1Pancreatic islet cellsMEN 1 geneGeneral populationSporadic tumorsType 1Activation of oncogenesTumorsGorlin syndrome geneAdenomatous polyposis coliLimited dataNeoplastic transformationPolyposis coliTumor suppressorGenetic eventsMolecular mechanismsSyndrome geneEarly stagesCellsPatientsNeoplasia
1991
Allelic loss on chromosome 11 in hereditary and sporadic tumors related to familial multiple endocrine neoplasia type 1.
Bale A, Norton J, Wong E, Fryburg J, Maton P, Oldfield E, Streeten E, Aurbach G, Brandi M, Friedman E. Allelic loss on chromosome 11 in hereditary and sporadic tumors related to familial multiple endocrine neoplasia type 1. Cancer Research 1991, 51: 1154-7. PMID: 1671755.Peer-Reviewed Original ResearchConceptsFamilial multiple endocrine neoplasia type 1Multiple endocrine neoplasia type 1Anterior pituitary tumorsPancreatic islet tumorsIslet tumorsPituitary tumorsAllelic lossType 1Autosomal dominant disorderMalignant gastrinomaBronchial carcinoidParathyroid glandsParathyroid tumorsAnterior pituitaryLoss of heterozygosityTumorsPancreatic isletsSporadic tumorsDominant disorderMEN1 genePatientsRestriction fragment length polymorphismFragment length polymorphismHomozygous inactivationInformative restriction fragment length polymorphisms
1985
Familial Sotos syndrome (cerebral gigantism): Craniofacial and psychological characteristics
Bale A, Drum M, Parry D, Mulvihill J, Opitz J, Reynolds J. Familial Sotos syndrome (cerebral gigantism): Craniofacial and psychological characteristics. American Journal Of Medical Genetics 1985, 20: 613-624. PMID: 2581446, DOI: 10.1002/ajmg.1320200407.Peer-Reviewed Original ResearchConceptsSotos syndromeAnterior cranial base angleRecessive inheritance patternDiagnostic criteriaPatient's motherCranial base angleFurther evaluationDevelopmental delayCephalometric radiographsCraniofacial characteristicsSyndromeTwo-generation familyInheritance patternMothersLower facePatientsMaxillary prominenceRadiographsThe “Family Study” Approach to Investigating the Role of Genetic Factors in Nasopharyngeal Carcinoma
Bale S, Bale A, Levine P. The “Family Study” Approach to Investigating the Role of Genetic Factors in Nasopharyngeal Carcinoma. Developments In Medical Virology 1985, 131-144. DOI: 10.1007/978-1-4613-2625-0_11.Peer-Reviewed Original ResearchNasopharyngeal carcinomaRecessive lymphoproliferative syndromeGenetic factorsFamily studiesEBV infectionSuch patientsLymphoproliferative syndromeEpidemiologic techniquesNumber of reportsImportance of geneticsCarcinomaCancerLogistic considerationsLaboratory assaysGenetic componentReportPatientsNeoplasms