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
2018
Measurement and immunophenotyping of pleural fluid EpCAM-positive cells and clusters for the management of non-small cell lung cancer patients
Thompson J, Fan R, Black T, Yu G, Savitch S, Chien A, Yee S, Sen M, Hwang W, Katz S, Feldman M, Vachani A, Carpenter E. Measurement and immunophenotyping of pleural fluid EpCAM-positive cells and clusters for the management of non-small cell lung cancer patients. Lung Cancer 2018, 127: 25-33. PMID: 30642547, PMCID: PMC6657687, DOI: 10.1016/j.lungcan.2018.11.020.Peer-Reviewed Original ResearchConceptsNon-small cell lung cancerMalignant pleural effusionPleural fluid samplesEpCAM-positive cellsPD-L1 expressionNSCLC patientsOverall survivalPrognostic informationNon-small cell lung cancer patientsFluid samplesCell lung cancer patientsCox proportional hazards modelInferior overall survivalKaplan-Meier methodNon-malignant groupCell lung cancerLung cancer patientsProportional hazards modelPleural fluid specimensCommon complicationPD-L1Pleural effusionCurrent gold standardCancer patientsLung cancer