2022
Detecting 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
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 etiologyCo-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
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 polymorphismsBasal Cell Carcinoma Arising in a Nevus Sebaceus in a Child with Facial Trichoepitheliomas
Jensen AL, Florell SR, Vanderhooft SL, Bale AE. Basal Cell Carcinoma Arising in a Nevus Sebaceus in a Child with Facial Trichoepitheliomas. Pediatric Dermatology 2011, 28: 138-141. PMID: 20738793, DOI: 10.1111/j.1525-1470.2010.01227.x.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
2005
Clinical testing for the nevoid basal cell carcinoma syndrome in a DNA diagnostic laboratory
Klein RD, Dykas DJ, Bale AE. Clinical testing for the nevoid basal cell carcinoma syndrome in a DNA diagnostic laboratory. Genetics In Medicine 2005, 7: 611-619. PMID: 16301862, DOI: 10.1097/01.gim.0000182879.57182.b4.Peer-Reviewed Original ResearchConceptsEarly-onset basal cell carcinomaBasal cell carcinomaCell carcinomaPTCH mutationsJaw cystsNevoid basal cell carcinoma syndromeCentral nervous system malformationsBasal cell carcinoma syndromeNervous system malformationsPeripheral blood leukocytesPTCH genePositive test resultsClinical featuresOvarian fibromaPathologic featuresCorpus callosumOcular abnormalitiesBlood leukocytesCarcinoma syndromeSystem malformationsPalmar pitsCleft lipClinical testingFalx cerebriCarcinoma
1999
Familial medullary thyroid carcinoma: Presymptomatic diagnosis and management in children
Heptulla R, Schwartz R, Bale A, Flynn S, Genel M. Familial medullary thyroid carcinoma: Presymptomatic diagnosis and management in children. The Journal Of Pediatrics 1999, 135: 327-331. PMID: 10484798, DOI: 10.1016/s0022-3476(99)70129-0.Peer-Reviewed Original ResearchConceptsMedullary thyroid carcinomaFamilial medullary thyroid carcinomaRET geneLymph node metastasisMutation-positive family membersC-cell hyperplasiaEvidence of pathologyDecades of lifeFamily membersGenotype-phenotype correlationCodon 618Node metastasisProvocative testingClinical spectrumCodon 804Extracellular cysteine-rich regionPathologic manifestationsThyroid carcinomaNormal responseGenetic testingCarcinomaChildrenPresymptomatic diagnosisExon 14Microscopic evidence
1997
Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome
Kimonis V, Goldstein A, Pastakia B, Yang M, Kase R, DiGiovanna J, Bale A, Bale S. Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome. American Journal Of Medical Genetics 1997, 69: 299-308. PMID: 9096761, DOI: 10.1002/(sici)1096-8628(19970331)69:3<299::aid-ajmg16>3.0.co;2-m.Peer-Reviewed Original ResearchConceptsBasal cell carcinomaNevoid basal cell carcinoma syndromeBasal cell carcinoma syndromeMean ageCell carcinomaFirst tumorJaw cystsCarcinoma syndromePlantar pitsNumber of BCCsFalx cerebriPalmar/plantar pitsMultiple basal cell carcinomasAffected individualsAutosomal dominant disorderImportant radiological signsOvarian fibromaUS patientsClinical manifestationsPercent of whitesRadiological signsPhysical findingsBifid ribsSprengel's deformityRadiation therapy