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Recurrent TP53 missense mutation in cancer patients of Arab descent.
Zick A, Kadouri L, Cohen S, Frohlinger M, Hamburger T, Zvi N, Plaser M, Avital E, Breuier S, Elian F, Salah A, Goldberg Y, Peretz T. Zick A, et al. Among authors: zvi n. Fam Cancer. 2017 Apr;16(2):295-301. doi: 10.1007/s10689-016-9951-z. Fam Cancer. 2017. PMID: 27866339
Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene ATOH1.
Brownstein Z, Gulsuner S, Walsh T, Martins FTA, Taiber S, Isakov O, Lee MK, Bordeynik-Cohen M, Birkan M, Chang W, Casadei S, Danial-Farran N, Abu-Rayyan A, Carlson R, Kamal L, Arnthórsson AÖ, Sokolov M, Gilony D, Lipschitz N, Frydman M, Davidov B, Macarov M, Sagi M, Vinkler C, Poran H, Sharony R, Samra N, Zvi N, Baris-Feldman H, Singer A, Handzel O, Hertzano R, Ali-Naffaa D, Ruhrman-Shahar N, Madgar O, Sofrin-Drucker E, Peleg A, Khayat M, Shohat M, Basel-Salmon L, Pras E, Lev D, Wolf M, Steingrimsson E, Shomron N, Kelley MW, Kanaan MN, Allon-Shalev S, King MC, Avraham KB. Brownstein Z, et al. Among authors: zvi n. Clin Genet. 2020 Oct;98(4):353-364. doi: 10.1111/cge.13817. Epub 2020 Aug 24. Clin Genet. 2020. PMID: 33111345 Free PMC article.
Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome.
Engal E, Oja KT, Maroofian R, Geminder O, Le TL, Marzin P, Guimier A, Mor E, Zvi N, Elefant N, Zaki MS, Gleeson JG, Muru K, Pajusalu S, Wojcik MH, Pachat D, Elmaksoud MA, Chan Jeong W, Lee H, Bauer P, Zifarelli G, Houlden H, Daana M, Elpeleg O, Amiel J, Lyonnet S, Gordon CT, Harel T, Õunap K, Salton M, Mor-Shaked H. Engal E, et al. Among authors: zvi n. Am J Hum Genet. 2023 Dec 7;110(12):2112-2119. doi: 10.1016/j.ajhg.2023.10.013. Epub 2023 Nov 13. Am J Hum Genet. 2023. PMID: 37963460 Free PMC article.
Role of late amniocentesis in the era of modern genomic technologies.
Daum H, Ben David A, Nadjari M, Zenvirt S, Helman S, Yanai N, Meiner V, Yagel S, Frumkin A, Shkedi Rafid S; collaborating authors. Daum H, et al. Ultrasound Obstet Gynecol. 2019 May;53(5):676-685. doi: 10.1002/uog.20113. Epub 2019 Apr 12. Ultrasound Obstet Gynecol. 2019. PMID: 30155922 Free article.
17 results