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Page 1
Identification of functional variants for cleft lip with or without cleft palate in or near PAX7, FGFR2, and NOG by targeted sequencing of GWAS loci.
Leslie EJ, Taub MA, Liu H, Steinberg KM, Koboldt DC, Zhang Q, Carlson JC, Hetmanski JB, Wang H, Larson DE, Fulton RS, Kousa YA, Fakhouri WD, Naji A, Ruczinski I, Begum F, Parker MM, Busch T, Standley J, Rigdon J, Hecht JT, Scott AF, Wehby GL, Christensen K, Czeizel AE, Deleyiannis FW, Schutte BC, Wilson RK, Cornell RA, Lidral AC, Weinstock GM, Beaty TH, Marazita ML, Murray JC. Leslie EJ, et al. Among authors: fakhouri wd. Am J Hum Genet. 2015 Mar 5;96(3):397-411. doi: 10.1016/j.ajhg.2015.01.004. Epub 2015 Feb 19. Am J Hum Genet. 2015. PMID: 25704602 Free PMC article.
The TFAP2A-IRF6-GRHL3 genetic pathway is conserved in neurulation.
Kousa YA, Zhu H, Fakhouri WD, Lei Y, Kinoshita A, Roushangar RR, Patel NK, Agopian AJ, Yang W, Leslie EJ, Busch TD, Mansour TA, Li X, Smith AL, Li EB, Sharma DB, Williams TJ, Chai Y, Amendt BA, Liao EC, Mitchell LE, Bassuk AG, Gregory S, Ashley-Koch A, Shaw GM, Finnell RH, Schutte BC. Kousa YA, et al. Among authors: fakhouri wd. Hum Mol Genet. 2019 May 15;28(10):1726-1737. doi: 10.1093/hmg/ddz010. Hum Mol Genet. 2019. PMID: 30689861 Free PMC article.
High incidence and geographic distribution of cleft palate in Finland are associated with the IRF6 gene.
Rahimov F, Nieminen P, Kumari P, Juuri E, Nikopensius T, Paraiso K, German J, Karvanen A, Kals M, Elnahas AG, Karjalainen J, Kurki M, Palotie A; FinnGen; Estonian Biobank Research Team; Heliövaara A, Esko T, Jukarainen S, Palta P, Ganna A, Patni AP, Mar D, Bomsztyk K, Mathieu J, Ruohola-Baker H, Visel A, Fakhouri WD, Schutte BC, Cornell RA, Rice DP. Rahimov F, et al. Among authors: fakhouri wd. Nat Commun. 2024 Nov 6;15(1):9568. doi: 10.1038/s41467-024-53634-2. Nat Commun. 2024. PMID: 39500877 Free PMC article.
An etiologic regulatory mutation in IRF6 with loss- and gain-of-function effects.
Fakhouri WD, Rahimov F, Attanasio C, Kouwenhoven EN, Ferreira De Lima RL, Felix TM, Nitschke L, Huver D, Barrons J, Kousa YA, Leslie E, Pennacchio LA, Van Bokhoven H, Visel A, Zhou H, Murray JC, Schutte BC. Fakhouri WD, et al. Hum Mol Genet. 2014 May 15;23(10):2711-20. doi: 10.1093/hmg/ddt664. Epub 2014 Jan 16. Hum Mol Genet. 2014. PMID: 24442519 Free PMC article.
Interaction between IRF6 and TGFA genes contribute to the risk of nonsyndromic cleft lip/palate.
Letra A, Fakhouri W, Fonseca RF, Menezes R, Kempa I, Prasad JL, McHenry TG, Lidral AC, Moreno L, Murray JC, Daack-Hirsch S, Marazita ML, Castilla EE, Lace B, Orioli IM, Granjeiro JM, Schutte BC, Vieira AR. Letra A, et al. PLoS One. 2012;7(9):e45441. doi: 10.1371/journal.pone.0045441. Epub 2012 Sep 20. PLoS One. 2012. PMID: 23029012 Free PMC article.
41 results