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Combined CNV, haplotyping and whole exome sequencing enable identification of two distinct novel EYS mutations causing RP in a single inbred tribe.
Wormser O, Gradstein L, Kadar E, Yogev Y, Perez Y, Mashkit E, Elbedour K, Drabkin M, Markus B, Kadir R, Halperin D, Khalaila S, Levy J, Lifshitz T, Manor E, Birk OS. Wormser O, et al. Among authors: elbedour k. Am J Med Genet A. 2018 Dec;176(12):2695-2703. doi: 10.1002/ajmg.a.40668. Epub 2018 Dec 4. Am J Med Genet A. 2018. PMID: 30513137
High myopia caused by a mutation in LEPREL1, encoding prolyl 3-hydroxylase 2.
Mordechai S, Gradstein L, Pasanen A, Ofir R, El Amour K, Levy J, Belfair N, Lifshitz T, Joshua S, Narkis G, Elbedour K, Myllyharju J, Birk OS. Mordechai S, et al. Among authors: elbedour k. Am J Hum Genet. 2011 Sep 9;89(3):438-45. doi: 10.1016/j.ajhg.2011.08.003. Epub 2011 Sep 1. Am J Hum Genet. 2011. PMID: 21885030 Free PMC article.
PLA2G6 mutation underlies infantile neuroaxonal dystrophy.
Khateeb S, Flusser H, Ofir R, Shelef I, Narkis G, Vardi G, Shorer Z, Levy R, Galil A, Elbedour K, Birk OS. Khateeb S, et al. Among authors: elbedour k. Am J Hum Genet. 2006 Nov;79(5):942-8. doi: 10.1086/508572. Epub 2006 Sep 19. Am J Hum Genet. 2006. PMID: 17033970 Free PMC article.
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