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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
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.
Polygenic embryo screening: four clinical considerations warrant further attention.
Pereira S, Carmi S, Altarescu G, Austin J, Barlevy D, Hershlag A, Juengst E, Kostick-Quenet K, Kovanci E, Lathi RB, Mukherjee M, Van den Veyver I, Zuk O, Lázaro-Muñoz G, Lencz T. Pereira S, et al. Among authors: carmi s. Hum Reprod. 2022 Jun 30;37(7):1375-1378. doi: 10.1093/humrep/deac110. Hum Reprod. 2022. PMID: 35604365 Free PMC article.
98 results