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High prevalence of MUTYH associated polyposis among minority populations in Israel, due to rare founder pathogenic variants.
Reznick Levi G, Goldberg Y, Segev H, Maza I, Gorelik Y, Laish I, Levi Z, Kedar I, Naftali Nathan S, Sharon Swartzman N, Abu Freha N, Paritsky M, Rennert G, Baris Feldman H, Paperna T, Weiss K, Half EE. Reznick Levi G, et al. Among authors: paperna t. Dig Liver Dis. 2023 Jul;55(7):880-887. doi: 10.1016/j.dld.2023.01.151. Epub 2023 Feb 4. Dig Liver Dis. 2023. PMID: 36740502 Review.
Translation towards personalized medicine in Multiple Sclerosis.
Miller A, Avidan N, Tzunz-Henig N, Glass-Marmor L, Lejbkowicz I, Pinter RY, Paperna T. Miller A, et al. Among authors: paperna t. J Neurol Sci. 2008 Nov 15;274(1-2):68-75. doi: 10.1016/j.jns.2008.07.028. Epub 2008 Sep 12. J Neurol Sci. 2008. PMID: 18789804 Review.
Rare Disease Diagnostics: A Single-center Experience and Lessons Learnt.
Weiss K, Kurolap A, Paperna T, Mory A, Steinberg M, Hershkovitz T, Ekhilevitch N, Baris HN. Weiss K, et al. Among authors: paperna t. Rambam Maimonides Med J. 2018 Jul 30;9(3):e0018. doi: 10.5041/RMMJ.10341. Rambam Maimonides Med J. 2018. PMID: 30089087 Free PMC article.
Homozygosity for CHEK2 p.Gly167Arg leads to a unique cancer syndrome with multiple complex chromosomal translocations in peripheral blood karyotype.
Paperna T, Sharon-Shwartzman N, Kurolap A, Goldberg Y, Moustafa N, Carasso Y, Feinstien M, Mory A, Reznick-Levi G, Gonzaga-Jauregui C, Shuldiner AR, Basel-Salmon L, Ofran Y, Half EE, Baris Feldman H. Paperna T, et al. J Med Genet. 2020 Jul;57(7):500-504. doi: 10.1136/jmedgenet-2018-105824. Epub 2019 Mar 11. J Med Genet. 2020. PMID: 30858171
A novel TUFM homozygous variant in a child with mitochondrial cardiomyopathy expands the phenotype of combined oxidative phosphorylation deficiency 4.
Hershkovitz T, Kurolap A, Gonzaga-Jauregui C, Paperna T, Mory A, Wolf SE; Regeneron Genetics Center; Overton JD, Shuldiner AR, Saada A, Mandel H, Baris Feldman H. Hershkovitz T, et al. Among authors: paperna t. J Hum Genet. 2019 Jun;64(6):589-595. doi: 10.1038/s10038-019-0592-6. Epub 2019 Mar 22. J Hum Genet. 2019. PMID: 30903008
A Unique Presentation of Infantile-Onset Colitis and Eosinophilic Disease without Recurrent Infections Resulting from a Novel Homozygous CARMIL2 Variant.
Kurolap A, Eshach Adiv O, Konnikova L, Werner L, Gonzaga-Jauregui C, Steinberg M, Mitsialis V, Mory A, Nunberg MY, Wall S, Shaoul R, Overton JD; Regeneron Genetics Center; Shuldiner AR, Zohar Y, Paperna T, Snapper SB, Shouval DS, Baris Feldman H. Kurolap A, et al. Among authors: paperna t. J Clin Immunol. 2019 May;39(4):430-439. doi: 10.1007/s10875-019-00631-6. Epub 2019 May 11. J Clin Immunol. 2019. PMID: 31079270
51 results