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THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability.
Kumar R, Corbett MA, van Bon BW, Woenig JA, Weir L, Douglas E, Friend KL, Gardner A, Shaw M, Jolly LA, Tan C, Hunter MF, Hackett A, Field M, Palmer EE, Leffler M, Rogers C, Boyle J, Bienek M, Jensen C, Van Buggenhout G, Van Esch H, Hoffmann K, Raynaud M, Zhao H, Reed R, Hu H, Haas SA, Haan E, Kalscheuer VM, Gecz J. Kumar R, et al. Among authors: rogers c. Am J Hum Genet. 2015 Aug 6;97(2):302-10. doi: 10.1016/j.ajhg.2015.05.021. Epub 2015 Jul 9. Am J Hum Genet. 2015. PMID: 26166480 Free PMC article.
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: rogers c. 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.
Maternal attitudes to newborn screening for fragile X syndrome.
Christie L, Wotton T, Bennetts B, Wiley V, Wilcken B, Rogers C, Boyle J, Turner C, Hansen J, Hunter M, Goel H, Field M. Christie L, et al. Among authors: rogers c. Am J Med Genet A. 2013 Feb;161A(2):301-11. doi: 10.1002/ajmg.a.35752. Epub 2013 Jan 9. Am J Med Genet A. 2013. PMID: 23303663
Intragenic DNA methylation in buccal epithelial cells and intellectual functioning in a paediatric cohort of males with fragile X.
Arpone M, Baker EK, Bretherton L, Bui M, Li X, Whitaker S, Dissanayake C, Cohen J, Hickerton C, Rogers C, Field M, Elliott J, Aliaga SM, Ling L, Francis D, Hearps SJC, Hunter MF, Amor DJ, Godler DE. Arpone M, et al. Among authors: rogers c. Sci Rep. 2018 Feb 26;8(1):3644. doi: 10.1038/s41598-018-21990-x. Sci Rep. 2018. PMID: 29483611 Free PMC article.
Incomplete silencing of full mutation alleles in males with fragile X syndrome is associated with autistic features.
Baker EK, Arpone M, Aliaga SM, Bretherton L, Kraan CM, Bui M, Slater HR, Ling L, Francis D, Hunter MF, Elliott J, Rogers C, Field M, Cohen J, Cornish K, Santa Maria L, Faundes V, Curotto B, Morales P, Trigo C, Salas I, Alliende AM, Amor DJ, Godler DE. Baker EK, et al. Among authors: rogers c. Mol Autism. 2019 May 3;10:21. doi: 10.1186/s13229-019-0271-7. eCollection 2019. Mol Autism. 2019. PMID: 31073396 Free PMC article.
Significantly Elevated FMR1 mRNA and Mosaicism for Methylated Premutation and Full Mutation Alleles in Two Brothers with Autism Features Referred for Fragile X Testing.
Field M, Dudding-Byth T, Arpone M, Baker EK, Aliaga SM, Rogers C, Hickerton C, Francis D, Phelan DG, Palmer EE, Amor DJ, Slater H, Bretherton L, Ling L, Godler DE. Field M, et al. Among authors: rogers c. Int J Mol Sci. 2019 Aug 11;20(16):3907. doi: 10.3390/ijms20163907. Int J Mol Sci. 2019. PMID: 31405222 Free PMC article.
Intellectual functioning and behavioural features associated with mosaicism in fragile X syndrome.
Baker EK, Arpone M, Vera SA, Bretherton L, Ure A, Kraan CM, Bui M, Ling L, Francis D, Hunter MF, Elliott J, Rogers C, Field MJ, Cohen J, Maria LS, Faundes V, Curotto B, Morales P, Trigo C, Salas I, Alliende AM, Amor DJ, Godler DE. Baker EK, et al. Among authors: rogers c. J Neurodev Disord. 2019 Dec 26;11(1):41. doi: 10.1186/s11689-019-9288-7. J Neurodev Disord. 2019. PMID: 31878865 Free PMC article.
2,716 results