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
2022
502 The genomic and phenotypic landscape of ichthyosis: An analysis of 1000 kindreds
Sun Q, Marukian N, Cheraghlou S, Paller A, Larralde M, Bercovitch L, Levinsohn J, Ren I, Hu R, Zhou J, Zaki T, Fan R, Tian C, Saraceni C, Nelson-Williams C, Loring E, Craiglow B, Milstone L, Lifton R, Boyden L, Choate K. 502 The genomic and phenotypic landscape of ichthyosis: An analysis of 1000 kindreds. Journal Of Investigative Dermatology 2022, 142: s85. DOI: 10.1016/j.jid.2022.05.511.Peer-Reviewed Original Research
2018
379 Quality of life in children with ichthyosis
Olamiju B, Ren I, Li L, Deng Y, Marukian N, Zhou J, Hu R, Zaki T, Craiglow B, Choate K. 379 Quality of life in children with ichthyosis. Journal Of Investigative Dermatology 2018, 138: s64. DOI: 10.1016/j.jid.2018.03.385.Peer-Reviewed Original Research
2017
291 Establishing and validating an ichthyosis severity index
Marukian N, Deng Y, Gan G, Ren I, Thermidor W, Craiglow B, Milstone L, Choate K. 291 Establishing and validating an ichthyosis severity index. Journal Of Investigative Dermatology 2017, 137: s50. DOI: 10.1016/j.jid.2017.02.307.Peer-Reviewed Original Research458 Cellular and metabolic basis for the ichthyotic phenotype in ichthyin deficiency
Mauldin E, Cassal M, Jeong S, Vavrova K, Uchida Y, Park K, Craiglow B, Choate K, Shin K, Lee Y, Khnykin D, Grove G, Elias P. 458 Cellular and metabolic basis for the ichthyotic phenotype in ichthyin deficiency. Journal Of Investigative Dermatology 2017, 137: s79. DOI: 10.1016/j.jid.2017.02.477.Peer-Reviewed Original Research
2016
383 A novel erythrokeratodermia-cardiomyopathy syndrome is caused by dominant, clustered mutations in desmoplakin
Boyden L, Kam C, Hernández-Martín A, Zhou J, Craiglow B, Milstone L, Hu R, Elias P, Green K, Choate K. 383 A novel erythrokeratodermia-cardiomyopathy syndrome is caused by dominant, clustered mutations in desmoplakin. Journal Of Investigative Dermatology 2016, 136: s68. DOI: 10.1016/j.jid.2016.02.416.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
2013
Somatic HRAS p.G12S Mutation Causes Woolly Hair and Epidermal Nevi
Levinsohn JL, Teng J, Craiglow BG, Loring EC, Burrow TA, Mane SS, Overton JD, Lifton RP, McNiff JM, Lucky AW, Choate KA. Somatic HRAS p.G12S Mutation Causes Woolly Hair and Epidermal Nevi. Journal Of Investigative Dermatology 2013, 134: 1149-1152. PMID: 24129065, PMCID: PMC3961553, DOI: 10.1038/jid.2013.430.Peer-Reviewed Original Research