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Investigating the genetic architecture of eye colour in a Canadian cohort.
Lona-Durazo F, Thakur R, Pairo-Castineira E, Funderburk K, Zhang T, Kovacs MA, Choi J, Jackson IJ, Brown KM, Parra EJ. Lona-Durazo F, et al. Among authors: jackson ij. iScience. 2022 May 30;25(6):104485. doi: 10.1016/j.isci.2022.104485. eCollection 2022 Jun 17. iScience. 2022. PMID: 35712076 Free PMC article.
Dopachrome tautomerase variants in patients with oculocutaneous albinism.
Pennamen P, Tingaud-Sequeira A, Gazova I, Keighren M, McKie L, Marlin S, Gherbi Halem S, Kaplan J, Delevoye C, Lacombe D, Plaisant C, Michaud V, Lasseaux E, Javerzat S, Jackson I, Arveiler B. Pennamen P, et al. Genet Med. 2021 Mar;23(3):479-487. doi: 10.1038/s41436-020-00997-8. Epub 2020 Oct 26. Genet Med. 2021. PMID: 33100333 Free article.
Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome.
Handley MT, Morris-Rosendahl DJ, Brown S, Macdonald F, Hardy C, Bem D, Carpanini SM, Borck G, Martorell L, Izzi C, Faravelli F, Accorsi P, Pinelli L, Basel-Vanagaite L, Peretz G, Abdel-Salam GM, Zaki MS, Jansen A, Mowat D, Glass I, Stewart H, Mancini G, Lederer D, Roscioli T, Giuliano F, Plomp AS, Rolfs A, Graham JM, Seemanova E, Poo P, García-Cazorla A, Edery P, Jackson IJ, Maher ER, Aligianis IA. Handley MT, et al. Among authors: jackson ij. Hum Mutat. 2013 May;34(5):686-96. doi: 10.1002/humu.22296. Hum Mutat. 2013. PMID: 23420520
Identifying the genes causing human diversity.
Jackson IJ. Jackson IJ. Eur J Hum Genet. 2006 Sep;14(9):979-80. doi: 10.1038/sj.ejhg.5201659. Epub 2006 May 24. Eur J Hum Genet. 2006. PMID: 16723996 No abstract available.
Novel ENU-induced eye mutations in the mouse: models for human eye disease.
Thaung C, West K, Clark BJ, McKie L, Morgan JE, Arnold K, Nolan PM, Peters J, Hunter AJ, Brown SD, Jackson IJ, Cross SH. Thaung C, et al. Among authors: jackson ij. Hum Mol Genet. 2002 Apr 1;11(7):755-67. doi: 10.1093/hmg/11.7.755. Hum Mol Genet. 2002. PMID: 11929848
225 results