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Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population.
Billingsley G, Bin J, Fieggen KJ, Duncan JL, Gerth C, Ogata K, Wodak SS, Traboulsi EI, Fishman GA, Paterson A, Chitayat D, Knueppel T, Millán JM, Mitchell GA, Deveault C, Héon E. Billingsley G, et al. Among authors: heon e. J Med Genet. 2010 Jul;47(7):453-63. doi: 10.1136/jmg.2009.073205. Epub 2010 May 14. J Med Genet. 2010. PMID: 20472660
OTX2 mutations cause autosomal dominant pattern dystrophy of the retinal pigment epithelium.
Vincent A, Forster N, Maynes JT, Paton TA, Billingsley G, Roslin NM, Ali A, Sutherland J, Wright T, Westall CA, Paterson AD, Marshall CR; FORGE Canada Consortium; Héon E. Vincent A, et al. Among authors: heon e. J Med Genet. 2014 Dec;51(12):797-805. doi: 10.1136/jmedgenet-2014-102620. Epub 2014 Oct 7. J Med Genet. 2014. PMID: 25293953
Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia.
Kohl S, Zobor D, Chiang WC, Weisschuh N, Staller J, Gonzalez Menendez I, Chang S, Beck SC, Garcia Garrido M, Sothilingam V, Seeliger MW, Stanzial F, Benedicenti F, Inzana F, Héon E, Vincent A, Beis J, Strom TM, Rudolph G, Roosing S, Hollander AI, Cremers FP, Lopez I, Ren H, Moore AT, Webster AR, Michaelides M, Koenekoop RK, Zrenner E, Kaufman RJ, Tsang SH, Wissinger B, Lin JH. Kohl S, et al. Among authors: heon e. Nat Genet. 2015 Jul;47(7):757-65. doi: 10.1038/ng.3319. Epub 2015 Jun 1. Nat Genet. 2015. PMID: 26029869 Free PMC article.
Mutations in C8ORF37 cause Bardet Biedl syndrome (BBS21).
Heon E, Kim G, Qin S, Garrison JE, Tavares E, Vincent A, Nuangchamnong N, Scott CA, Slusarski DC, Sheffield VC. Heon E, et al. Hum Mol Genet. 2016 Jun 1;25(11):2283-2294. doi: 10.1093/hmg/ddw096. Epub 2016 Mar 22. Hum Mol Genet. 2016. PMID: 27008867 Free PMC article.
Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night Blindness.
Vincent A, Audo I, Tavares E, Maynes JT, Tumber A, Wright T, Li S, Michiels C; GNB3 Consortium; Condroyer C, MacDonald H, Verdet R, Sahel JA, Hamel CP, Zeitz C, Héon E. Vincent A, et al. Among authors: heon e. Am J Hum Genet. 2016 May 5;98(5):1011-1019. doi: 10.1016/j.ajhg.2016.03.021. Epub 2016 Apr 7. Am J Hum Genet. 2016. PMID: 27063057 Free PMC article.
Retrotransposon insertion as a novel mutational event in Bardet-Biedl syndrome.
Tavares E, Tang CY, Vig A, Li S, Billingsley G, Sung W, Vincent A, Thiruvahindrapuram B, Héon E. Tavares E, et al. Among authors: heon e. Mol Genet Genomic Med. 2019 Feb;7(2):e00521. doi: 10.1002/mgg3.521. Epub 2018 Nov 28. Mol Genet Genomic Med. 2019. PMID: 30484961 Free PMC article.
249 results