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CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes.
Hackett A, Tarpey PS, Licata A, Cox J, Whibley A, Boyle J, Rogers C, Grigg J, Partington M, Stevenson RE, Tolmie J, Yates JR, Turner G, Wilson M, Futreal AP, Corbett M, Shaw M, Gecz J, Raymond FL, Stratton MR, Schwartz CE, Abidi FE. Hackett A, et al. Among authors: grigg j. Eur J Hum Genet. 2010 May;18(5):544-52. doi: 10.1038/ejhg.2009.220. Epub 2009 Dec 23. Eur J Hum Genet. 2010. PMID: 20029458 Free PMC article.
Novel SOX2 partner-factor domain mutation in a four-generation family.
Mihelec M, Abraham P, Gibson K, Krowka R, Susman R, Storen R, Chen Y, Donald J, Tam PP, Grigg JR, Flaherty M, Gole GA, Jamieson RV. Mihelec M, et al. Among authors: grigg jr. Eur J Hum Genet. 2009 Nov;17(11):1417-22. doi: 10.1038/ejhg.2009.79. Epub 2009 May 27. Eur J Hum Genet. 2009. PMID: 19471311 Free PMC article.
NMNAT1 variants cause cone and cone-rod dystrophy.
Nash BM, Symes R, Goel H, Dinger ME, Bennetts B, Grigg JR, Jamieson RV. Nash BM, et al. Eur J Hum Genet. 2018 Mar;26(3):428-433. doi: 10.1038/s41431-017-0029-7. Epub 2017 Nov 28. Eur J Hum Genet. 2018. PMID: 29184169 Free PMC article.
Mutations in SIPA1L3 cause eye defects through disruption of cell polarity and cytoskeleton organization.
Greenlees R, Mihelec M, Yousoof S, Speidel D, Wu SK, Rinkwitz S, Prokudin I, Perveen R, Cheng A, Ma A, Nash B, Gillespie R, Loebel DA, Clayton-Smith J, Lloyd IC, Grigg JR, Tam PP, Yap AS, Becker TS, Black GC, Semina E, Jamieson RV. Greenlees R, et al. Among authors: grigg jr. Hum Mol Genet. 2015 Oct 15;24(20):5789-804. doi: 10.1093/hmg/ddv298. Epub 2015 Jul 30. Hum Mol Genet. 2015. PMID: 26231217
518 results