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Progressive liver, kidney, and heart degeneration in children and adults affected by TULP3 mutations.
Devane J, Ott E, Olinger EG, Epting D, Decker E, Friedrich A, Bachmann N, Renschler G, Eisenberger T, Briem-Richter A, Grabhorn EF, Powell L, Wilson IJ, Rice SJ, Miles CG, Wood K; Genomics England Research Consortium; Trivedi P, Hirschfield G, Pietrobattista A, Wohler E, Mezina A, Sobreira N, Agolini E, Maggiore G, Dahmer-Heath M, Yilmaz A, Boerries M, Metzger P, Schell C, Grünewald I, Konrad M, König J, Schlevogt B, Sayer JA, Bergmann C. Devane J, et al. Among authors: mezina a. Am J Hum Genet. 2022 May 5;109(5):928-943. doi: 10.1016/j.ajhg.2022.03.015. Epub 2022 Apr 8. Am J Hum Genet. 2022. PMID: 35397207 Free PMC article.
Identification of Polycystic Kidney Disease 1 Like 1 Gene Variants in Children With Biliary Atresia Splenic Malformation Syndrome.
Berauer JP, Mezina AI, Okou DT, Sabo A, Muzny DM, Gibbs RA, Hegde MR, Chopra P, Cutler DJ, Perlmutter DH, Bull LN, Thompson RJ, Loomes KM, Spinner NB, Rajagopalan R, Guthery SL, Moore B, Yandell M, Harpavat S, Magee JC, Kamath BM, Molleston JP, Bezerra JA, Murray KF, Alonso EM, Rosenthal P, Squires RH, Wang KS, Finegold MJ, Russo P, Sherker AH, Sokol RJ, Karpen SJ; Childhood Liver Disease Research Network (ChiLDReN). Berauer JP, et al. Among authors: mezina ai. Hepatology. 2019 Sep;70(3):899-910. doi: 10.1002/hep.30515. Epub 2019 Mar 21. Hepatology. 2019. PMID: 30664273 Free PMC article.
Large-scale identification of undiagnosed hepatic steatosis using natural language processing.
Schneider CV, Li T, Zhang D, Mezina AI, Rattan P, Huang H, Creasy KT, Scorletti E, Zandvakili I, Vujkovic M, Hehl L, Fiksel J, Park J, Wangensteen K, Risman M, Chang KM, Serper M, Carr RM, Schneider KM, Chen J, Rader DJ. Schneider CV, et al. Among authors: mezina ai. EClinicalMedicine. 2023 Aug 9;62:102149. doi: 10.1016/j.eclinm.2023.102149. eCollection 2023 Aug. EClinicalMedicine. 2023. PMID: 37599905 Free PMC article.
Multigene Panel Testing in Individuals With Hepatocellular Carcinoma Identifies Pathogenic Germline Variants.
Mezina A, Philips N, Bogus Z, Erez N, Xiao R, Fan R, Olthoff KM, Reddy KR, Samadder NJ, Nielsen SM, Hatchell KE, Esplin ED, Rustgi AK, Katona BW, Hoteit MA, Nathanson KL, Wangensteen KJ. Mezina A, et al. JCO Precis Oncol. 2021 Jun 10;5:PO.21.00079. doi: 10.1200/PO.21.00079. eCollection 2021. JCO Precis Oncol. 2021. PMID: 34250406 Free PMC article.