2021
Genotype‒Structurotype‒Phenotype Correlations in Patients with Pachyonychia Congenita
Wu TT, Eldirany SA, Bunick CG, Teng JMC. Genotype‒Structurotype‒Phenotype Correlations in Patients with Pachyonychia Congenita. Journal Of Investigative Dermatology 2021, 141: 2876-2884.e4. PMID: 34116063, PMCID: PMC8922998, DOI: 10.1016/j.jid.2021.03.035.Peer-Reviewed Original ResearchMeSH KeywordsGenetic Association StudiesHumansKeratin-16Keratin-17Keratin-6KeratinsModels, MolecularMutationPachyonychia CongenitaConceptsPachyonychia congenitaInternational PC Research RegistryPainful palmoplantar keratodermaPhenotype correlationNatal teethNail involvementClinical manifestationsKeratin subtypesFollicular hyperkeratosisResearch RegistryOral leukokeratosisPC pathogenesisNail dystrophyPathologic alterationsCutaneous cystsDisease pathogenesisHotspot missense mutationsPatientsClinical phenotypeGreater impairmentGenetic testingHigh-frequency mutationsTherapeutic developmentPalmoplantar keratodermaGenetic disorders
2015
Genomic landscape of cutaneous T cell lymphoma
Choi J, Goh G, Walradt T, Hong BS, Bunick CG, Chen K, Bjornson RD, Maman Y, Wang T, Tordoff J, Carlson K, Overton JD, Liu KJ, Lewis JM, Devine L, Barbarotta L, Foss FM, Subtil A, Vonderheid EC, Edelson RL, Schatz DG, Boggon TJ, Girardi M, Lifton RP. Genomic landscape of cutaneous T cell lymphoma. Nature Genetics 2015, 47: 1011-1019. PMID: 26192916, PMCID: PMC4552614, DOI: 10.1038/ng.3356.Peer-Reviewed Original Research