Theodore Zaki, MD
Cards
About
Research
Publications
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 ResearchFocal Palmoplantar Keratoderma and Gingival Keratosis Caused by a KRT16 Mutation.
Zaki TD, Boyden LM, Mathes E, Hu RH, Zhou J, Loring E, North J, Oza V, Choate KA. Focal Palmoplantar Keratoderma and Gingival Keratosis Caused by a KRT16 Mutation. Cutis 2022, 110: e5-e7. PMID: 36179229, DOI: 10.12788/cutis.0571.Peer-Reviewed Original ResearchThe 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
2021
Clusters of Injuries From Motorcycle Collisions: Exploratory Factor Analysis of a Single Institution Trauma Registry
Rankin KA, Lukasiewicz AM, Ou M, Zaki T, Molho D, Salinas Y, Goel A, Leslie MP, Wiznia DH, Lukasiewicz A, Zaki T, Molho D, Wiznia D. Clusters of Injuries From Motorcycle Collisions: Exploratory Factor Analysis of a Single Institution Trauma Registry. Cureus 2021, 13: e18713. PMID: 34790468, PMCID: PMC8584277, DOI: 10.7759/cureus.18713.Peer-Reviewed Original ResearchLower extremity injuriesExtremity injuriesMotorcycle collisionSingle institution's trauma registryLevel 1 trauma centerInstitution's trauma registryCervical spine injuryUpper extremity injuriesClusters of injuriesMotorcycle trauma patientsExploratory factor analysisSets of injuriesAcute managementTrauma patientsMotorcycle traumaRetrospective reviewTrauma centerTrauma registrySpine injuriesSystem activationSecondary surveyPatientsInjuryThorax injuriesTrauma180 ASPRV1 mutations cause dominantly inherited ichthyosis
Boyden L, Zhou J, Hu R, Zaki T, Loring E, Scott J, Traupe H, Paller A, Lifton R, Choate K. 180 ASPRV1 mutations cause dominantly inherited ichthyosis. Journal Of Investigative Dermatology 2021, 141: s32. DOI: 10.1016/j.jid.2021.02.200.Peer-Reviewed Original ResearchHigh-risk motor vehicle drivers engage in more risk behaviors than motorcyclists
Rankin KA, Zaki T, Ou D, Kim CY, Averbukh L, Maisano JR, Leslie MP, Wiznia DH. High-risk motor vehicle drivers engage in more risk behaviors than motorcyclists. SICOT-J 2021, 7: 29. PMID: 33929313, PMCID: PMC8086423, DOI: 10.1051/sicotj/2021027.Peer-Reviewed Original ResearchMotor vehicle collisionsMore risk behaviorsMotorcycle collisionRisk behaviorsChi-squared testMotor vehicle driversMVC patientsLevel 1 trauma centerMultiple risk behaviorsMultivariable linear regressionPearson's chi-squared testInfluence of drugsTrauma patientsTrauma centerPatientsSubstance useVehicle collisionsT-testContinuous variablesSafety interventionsProtective behaviorsText messagingRiskMotorcyclistsLinear regression
2020
A review of common motorcycle collision mechanisms of injury
Petit L, Zaki T, Hsiang W, Leslie MP, Wiznia DH. A review of common motorcycle collision mechanisms of injury. EFORT Open Reviews 2020, 5: 544-548. PMID: 33072406, PMCID: PMC7528667, DOI: 10.1302/2058-5241.5.190090.Peer-Reviewed Original Research432 Ichthyosis affects mental health in adults and children: A cross-sectional study
Sun Q, Ren I, Zaki T, Maciejewski K, Choate K. 432 Ichthyosis affects mental health in adults and children: A cross-sectional study. Journal Of Investigative Dermatology 2020, 140: s57. DOI: 10.1016/j.jid.2020.03.440.Peer-Reviewed Original ResearchMutations in ASPRV1 Cause Dominantly Inherited Ichthyosis
Boyden LM, Zhou J, Hu R, Zaki T, Loring E, Scott J, Traupe H, Paller AS, Lifton RP, Choate KA. Mutations in ASPRV1 Cause Dominantly Inherited Ichthyosis. American Journal Of Human Genetics 2020, 107: 158-163. PMID: 32516568, PMCID: PMC7332602, DOI: 10.1016/j.ajhg.2020.05.013.Peer-Reviewed Original ResearchConceptsDominant Mendelian disorderAutocatalytic cleavage siteMendelian disordersProtein residuesASPRV1Cleavage siteEpidermal differentiationMissense mutationsFilaggrin processingMutationsExome sequencingGenetic causeEpidermal barrier integrityEpidermal layerPalmoplantar keratodermaLamellar ichthyosisClose proximityPost‐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 gene