2022
The Genomic and Phenotypic Landscape of Ichthyosis
Sun Q, Burgren NM, Cheraghlou S, Paller AS, Larralde M, Bercovitch L, Levinsohn J, Ren I, Hu RH, Zhou J, Zaki T, Fan R, Tian C, Saraceni C, Nelson-Williams CJ, Loring E, Craiglow BG, Milstone LM, Lifton RP, Boyden LM, Choate KA. The Genomic and Phenotypic Landscape of Ichthyosis. JAMA Dermatology 2022, 158: 16-25. PMID: 34851365, PMCID: PMC8637393, DOI: 10.1001/jamadermatol.2021.4242.Peer-Reviewed Original ResearchConceptsClinical manifestationsPathogenic variantsCohort studySkin painEye problemsPhenotypic spectrumGenotype-phenotype associationsSkin odorClear genotype-phenotype associationsFisher's exact testGenetic diagnosisPatient advocacy groupsNovel disease-associated variantsReferral centerDisease-associated variantsClinical assessmentSkin infectionsClinical photographsMAIN OUTCOMEExact testHearing problemsHeterogeneous disorderScaly skinBlood DNACommon genotype
2019
Clinical Implications of Plasma-Based Genotyping With the Delivery of Personalized Therapy in Metastatic Non–Small Cell Lung Cancer
Aggarwal C, Thompson J, Black T, Katz S, Fan R, Yee S, Chien A, Evans T, Bauml J, Alley E, Ciunci C, Berman A, Cohen R, Lieberman D, Majmundar K, Savitch S, Morrissette J, Hwang W, Elenitoba-Johnson K, Langer C, Carpenter E. Clinical Implications of Plasma-Based Genotyping With the Delivery of Personalized Therapy in Metastatic Non–Small Cell Lung Cancer. JAMA Oncology 2019, 5: 173-180. PMID: 30325992, PMCID: PMC6396811, DOI: 10.1001/jamaoncol.2018.4305.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedAged, 80 and overBiomarkers, TumorCarcinoma, Non-Small-Cell LungClinical Decision-MakingDNA Mutational AnalysisFemaleGenetic Predisposition to DiseaseHumansLung NeoplasmsMaleMiddle AgedMutationPatient SelectionPhenotypePrecision MedicinePredictive Value of TestsPrognosisProspective StudiesConceptsNon-small cell lung cancerTissue next-generation sequencingMetastatic non-small cell lung cancerCell lung cancerTargetable mutationsNext-generation sequencingLung cancerPlasma testingStage IV non-small cell lung cancerAllele fractionNGS testingClinical implicationsPlasma next-generation sequencingPersonalized therapyReal-world clinical settingProspective cohort studyResponse Evaluation CriteriaRoutine clinical managementNumber of patientsSolid Tumors responseDNA next-generation sequencingStable diseaseMutation allele fractionCohort studyPartial response