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Page 1
Nationwide genetic analysis for molecularly unresolved cystic fibrosis patients in a multiethnic society: implications for preconception carrier screening.
Behar DM, Inbar O, Shteinberg M, Gur M, Mussaffi H, Shoseyov D, Ashkenazi M, Alkrinawi S, Bormans C, Hakim F, Mei-Zahav M, Cohen-Cymberknoh M, Dagan A, Prais D, Sarouk I, Stafler P, Bar Aluma BE, Akler G, Picard E, Aviram M, Efrati O, Livnat G, Rivlin J, Bentur L, Blau H, Kerem E, Singer A. Behar DM, et al. Mol Genet Genomic Med. 2017 Feb 19;5(3):223-236. doi: 10.1002/mgg3.278. eCollection 2017 May. Mol Genet Genomic Med. 2017. PMID: 28546993 Free PMC article.
Mutations in TAX1BP3 cause dilated cardiomyopathy with septo-optic dysplasia.
Reinstein E, Orvin K, Tayeb-Fligelman E, Stiebel-Kalish H, Tzur S, Pimienta AL, Bazak L, Bengal T, Cohen L, Gaton DD, Bormans C, Landau M, Kornowski R, Shohat M, Behar DM. Reinstein E, et al. Among authors: behar dm. Hum Mutat. 2015 Apr;36(4):439-42. doi: 10.1002/humu.22759. Epub 2015 Mar 16. Hum Mutat. 2015. PMID: 25645515
A false-carrier state for the c.579G>A mutation in the NCF1 gene in Ashkenazi Jews.
De Boer M, Gavrieli R, van Leeuwen K, Wolf HR, Dushnitzki M, Bar-Yosef Y, Bar-Ziv A, Behar D, Lipitz S, Miller TE, Tool ATJ, Kuijpers TW, van den Berg TK, Wolach B, Roos D, Pras E. De Boer M, et al. J Med Genet. 2018 Mar;55(3):166-172. doi: 10.1136/jmedgenet-2017-105022. Epub 2018 Jan 13. J Med Genet. 2018. PMID: 29331982
Congenital dilated cardiomyopathy caused by biallelic mutations in Filamin C.
Reinstein E, Gutierrez-Fernandez A, Tzur S, Bormans C, Marcu S, Tayeb-Fligelman E, Vinkler C, Raas-Rothschild A, Irge D, Landau M, Shohat M, Puente XS, Behar DM, Lopez-Otın C. Reinstein E, et al. Among authors: behar dm. Eur J Hum Genet. 2016 Dec;24(12):1792-1796. doi: 10.1038/ejhg.2016.110. Epub 2016 Sep 7. Eur J Hum Genet. 2016. PMID: 27601210 Free PMC article.
118 results