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
2020
Post‐zygotic ACTB mutations underlie congenital smooth muscle hamartomas
Atzmony L, Ugwu N, Zaki TD, Antaya RJ, Choate KA. Post‐zygotic ACTB mutations underlie congenital smooth muscle hamartomas. Journal Of Cutaneous Pathology 2020, 47: 681-685. PMID: 32170967, PMCID: PMC7943230, DOI: 10.1111/cup.13683.Peer-Reviewed Original ResearchConceptsCongenital smooth muscle hamartomaSmooth muscle hamartomaBecker's nevusMuscle hamartomaBecker nevus syndromeDirect sequencingHistopathological featuresHistopathological overlapBenign lesionsMosaic disordersPhenotypic spectrumNeviUnaffected tissueAffected tissuesHamartomaPost-zygotic mutationsHemihypertrophyEnrichment assayTissueMutationsACTB geneSomatic Mutation Profile of Atypical Fibroxanthoma and Cutaneous Undifferentiated Pleomorphic Sarcoma.
Lim YH, Zaki TD, Levinsohn JL, Galan A, Choate KA, Hanlon AM. Somatic Mutation Profile of Atypical Fibroxanthoma and Cutaneous Undifferentiated Pleomorphic Sarcoma. Dermatologic Surgery 2020, 47: 290-292. PMID: 32079866, DOI: 10.1097/dss.0000000000002342.Peer-Reviewed Original ResearchIchthyosis affects mental health in adults and children: A cross-sectional study
Sun Q, Ren I, Zaki T, Maciejewski K, Choate K. Ichthyosis affects mental health in adults and children: A cross-sectional study. Journal Of The American Academy Of Dermatology 2020, 83: 951-954. PMID: 32006604, DOI: 10.1016/j.jaad.2020.01.052.Peer-Reviewed Original Research
2017
Preclinical endoscopic training using a part-task simulator: learning curve assessment and determination of threshold score for advancement to clinical endoscopy
Jirapinyo P, Abidi WM, Aihara H, Zaki T, Tsay C, Imaeda AB, Thompson CC. Preclinical endoscopic training using a part-task simulator: learning curve assessment and determination of threshold score for advancement to clinical endoscopy. Surgical Endoscopy 2017, 31: 4010-4015. PMID: 28229238, DOI: 10.1007/s00464-017-5436-x.Peer-Reviewed Original ResearchConceptsSimulator scoresThreshold scoreInitial clinical casesVisual analog scaleEndoscopic procedure timeSimulator trainingClinical endoscopyPrior endoscopic experienceSession 1Physical demandsAnalog scalePatient discomfortProcedure timeEndoscopic experienceClinical casesEndoscopySimulator sessionsSession 10Endoscopic trainingScoresScore modelLearning curveFirst sessionLevel of comfortTraining sessions