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IHH enhancer variant within neighboring NHEJ1 intron causes microphthalmia anophthalmia and coloboma.
Wormser O, Perez Y, Dolgin V, Kamali B, Tangeman JA, Gradstein L, Yogev Y, Hadar N, Freund O, Drabkin M, Halperin D, Irron I, Grajales-Esquivel E, Del Rio-Tsonis K, Birnbaum RY, Akler G, Birk OS. Wormser O, et al. Among authors: akler g. NPJ Genom Med. 2023 Aug 14;8(1):22. doi: 10.1038/s41525-023-00364-x. NPJ Genom Med. 2023. PMID: 37580330 Free PMC article.
Lessons learned from expanded reproductive carrier screening in self-reported Ashkenazi, Sephardi, and Mizrahi Jewish patients.
Akler G, Birch AH, Schreiber-Agus N, Cai X, Cai G, Shi L, Yu C, Larmore AM, Mendiratta-Vij G, Elkhoury L, Dillon MW, Zhu J, Mclellan AS, Suer FE, Webb BD, Schadt EE, Kornreich R, Edelmann L. Akler G, et al. Mol Genet Genomic Med. 2020 Feb;8(2):e1053. doi: 10.1002/mgg3.1053. Epub 2019 Dec 27. Mol Genet Genomic Med. 2020. PMID: 31880409 Free PMC article.
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. Among authors: akler g. 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.
Characteristics of diabetes after pediatric liver transplant.
Greig F, Rapaport R, Klein G, Akler G, Annunziato R, Miloh T, Arnon R, Florman S, Kerkar N. Greig F, et al. Among authors: akler g. Pediatr Transplant. 2013 Feb;17(1):27-33. doi: 10.1111/j.1399-3046.2012.01779.x. Epub 2012 Aug 20. Pediatr Transplant. 2013. PMID: 22905982