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 ResearchMeSH KeywordsCohort StudiesGenetic TestingGenomicsHigh-Throughput Nucleotide SequencingHumansPhenotypeRetrospective StudiesConceptsRetrospective 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 results
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
Host 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 color