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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
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
Novel Association of the NOTCH Pathway Regulator MIB1 Gene With the Development of Bicuspid Aortic Valve.
Tessler I, Albuisson J, Piñeiro-Sabarís R, Verstraeten A, Kamber Kaya HE, Siguero-Álvarez M, Goudot G, MacGrogan D, Luyckx I, Shpitzen S, Levin G, Kelman G, Reshef N, Mananet H, Holdcraft J, Muehlschlegel JD, Peloso GM, Oppenheim O, Cheng C, Mazzella JM, Andelfinger G, Mital S, Eriksson P, Billon C, Heydarpour M, Dietz HC, Jeunemaitre X, Leitersdorf E, Sprinzak D, Blacklow SC, Body SC, Carmi S, Loeys B, de la Pompa JL, Gilon D, Messas E, Durst R. Tessler I, et al. Among authors: carmi s. JAMA Cardiol. 2023 Aug 1;8(8):721-731. doi: 10.1001/jamacardio.2023.1469. JAMA Cardiol. 2023. PMID: 37405741 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.
98 results