2024
In‐person validation of the Ichthyosis Scoring System
Echeandia‐Francis C, Sun Q, Asch S, Bayart C, Benjamin L, Cipriano S, Craiglow B, Dyer J, Levy M, Lilly E, Newell B, Liang J, Gan G, Deng Y, Paller A, Choate K. In‐person validation of the Ichthyosis Scoring System. Pediatric Dermatology 2024, 41: 247-252. PMID: 38234066, DOI: 10.1111/pde.15508.Peer-Reviewed Original ResearchInterrater intraclass correlation coefficientsIntrarater reliabilityIn-personIntraclass correlation coefficientIn-person evaluationContent validityInterrater reliabilityHeterogeneous group of skin disordersGroup of skin disordersIntraraterMedical professionalsInterrater agreementErythema evaluationIchthyosis subtypesPhotographic evaluationErythema scoreInterraterErythemaQuantify severitySkin disordersClinical utilityIchthyosisScoring systemHeterogeneous groupCorrelation coefficient
2019
Review of genodermatoses with characteristic histopathology and potential diagnostic delay
Ko CJ, Atzmony L, Lim Y, McNiff JM, Craiglow B, Antaya RJ, Choate KA. Review of genodermatoses with characteristic histopathology and potential diagnostic delay. Journal Of Cutaneous Pathology 2019, 46: 756-765. PMID: 31148225, DOI: 10.1111/cup.13520.Peer-Reviewed Original Research
2014
Dominant De Novo Mutations in GJA1 Cause Erythrokeratodermia Variabilis et Progressiva, without Features of Oculodentodigital Dysplasia
Boyden LM, Craiglow BG, Zhou J, Hu R, Loring EC, Morel KD, Lauren CT, Lifton RP, Bilguvar K, , Paller A, Choate K. Dominant De Novo Mutations in GJA1 Cause Erythrokeratodermia Variabilis et Progressiva, without Features of Oculodentodigital Dysplasia. Journal Of Investigative Dermatology 2014, 135: 1540-1547. PMID: 25398053, PMCID: PMC4430428, DOI: 10.1038/jid.2014.485.Peer-Reviewed Original ResearchMeSH KeywordsAmino Acid SequenceCell MembraneChildChild, PreschoolConnexin 43ConnexinsCraniofacial AbnormalitiesDisease ProgressionErythrokeratodermia VariabilisExomeEye AbnormalitiesFemaleFoot Deformities, CongenitalGolgi ApparatusHeLa CellsHumansImmunohistochemistryMaleMolecular Sequence DataMutagenesis, Site-DirectedMutationPhenotypeSequence Analysis, DNASequence Homology, Amino AcidSkin DiseasesSyndactylyTooth AbnormalitiesConceptsSkin diseasesGJA1 mutationsErythrokeratodermia variabilis et progressivaOculodentodigital dysplasiaProgressive skin diseaseDe novo missense mutationsNovo missense mutationCutaneous findingsDominant de novo mutationsSkin disordersGap junction proteinDe novo mutationsBarrier functionConnexin 43Exome sequencingJunction proteinsPalmoplantar keratodermaDysplasiaGJA1Novo mutationsDiseaseMissense mutationsDifferent mutationsEpidermal homeostasisMembrane localization