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Expanded genetic screening panel for the Ashkenazi Jewish population.
Baskovich B, Hiraki S, Upadhyay K, Meyer P, Carmi S, Barzilai N, Darvasi A, Ozelius L, Peter I, Cho JH, Atzmon G, Clark L, Yu J, Lencz T, Pe'er I, Ostrer H, Oddoux C. Baskovich B, et al. Among authors: carmi s. Genet Med. 2016 May;18(5):522-8. doi: 10.1038/gim.2015.123. Epub 2015 Sep 3. Genet Med. 2016. PMID: 26334176 Free PMC article.
An Ashkenazi founder mutation in the PKHD1 gene.
Quint A, Sagi M, Carmi S, Daum H, Macarov M, Ben Neriah Z, Meiner V, Elpeleg O, Lerer I. Quint A, et al. Among authors: carmi s. Eur J Med Genet. 2016 Feb;59(2):86-90. doi: 10.1016/j.ejmg.2015.12.013. Epub 2015 Dec 23. Eur J Med Genet. 2016. PMID: 26721323
Expanding the phenotype of CRB2 mutations - A new ciliopathy syndrome?
Jaron R, Rosenfeld N, Zahdeh F, Carmi S, Beni-Adani L, Doviner V, Picard E, Segel R, Zeligson S, Carmel L, Renbaum P, Levy-Lahad E. Jaron R, et al. Among authors: carmi s. Clin Genet. 2016 Dec;90(6):540-544. doi: 10.1111/cge.12764. Epub 2016 May 2. Clin Genet. 2016. PMID: 26925547
The genetic variation in the R1a clade among the Ashkenazi Levites' Y chromosome.
Behar DM, Saag L, Karmin M, Gover MG, Wexler JD, Sanchez LF, Greenspan E, Kushniarevich A, Davydenko O, Sahakyan H, Yepiskoposyan L, Boattini A, Sarno S, Pagani L, Carmi S, Tzur S, Metspalu E, Bormans C, Skorecki K, Metspalu M, Rootsi S, Villems R. Behar DM, et al. Among authors: carmi s. Sci Rep. 2017 Nov 2;7(1):14969. doi: 10.1038/s41598-017-14761-7. Sci Rep. 2017. PMID: 29097670 Free PMC article.
Haploseek: a 24-hour all-in-one method for preimplantation genetic diagnosis (PGD) of monogenic disease and aneuploidy.
Backenroth D, Zahdeh F, Kling Y, Peretz A, Rosen T, Kort D, Zeligson S, Dror T, Kirshberg S, Burak E, Segel R, Levy-Lahad E, Zangen D, Altarescu G, Carmi S, Zeevi DA. Backenroth D, et al. Among authors: carmi s. Genet Med. 2019 Jun;21(6):1390-1399. doi: 10.1038/s41436-018-0351-7. Epub 2018 Nov 19. Genet Med. 2019. PMID: 30449887 Free article.
Common founder BRCA2 pathogenic variants and breast cancer characteristics in Ethiopian Jews.
Lieberman S, Chen-Shtoyerman R, Levi Z, Shkedi-Rafid S, Zuckerman S, Bernstein-Molho R, Levi GR, Shachar SS, Flugelman A, Libman V, Kedar I, Naftaly-Nathan S, Lagovsky I, Peretz T, Karminsky N, Carmi S, Levy-Lahad E, Goldberg Y. Lieberman S, et al. Among authors: carmi s. Breast Cancer Res Treat. 2022 May;193(1):217-224. doi: 10.1007/s10549-022-06557-9. Epub 2022 Mar 12. Breast Cancer Res Treat. 2022. PMID: 35278150
91 results