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Page 1
Epigenomic newborn screening for conditions with intellectual disability and autistic features in Australian newborns.
Alshawsh M, Wake M, Gecz J, Corbett M, Saffery R, Pitt J, Greaves R, Williams K, Field M, Cheong J, Bui M, Arora S, Sadedin S, Lunke S, Wall M, Amor DJ, Godler DE. Alshawsh M, et al. Among authors: corbett m. Epigenomics. 2024;16(18):1203-1214. doi: 10.1080/17501911.2024.2402681. Epub 2024 Oct 4. Epigenomics. 2024. PMID: 39365098 Free PMC article.
Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephaly.
Field M, Tarpey PS, Smith R, Edkins S, O'Meara S, Stevens C, Tofts C, Teague J, Butler A, Dicks E, Barthorpe S, Buck G, Cole J, Gray K, Halliday K, Hills K, Jenkinson A, Jones D, Menzies A, Mironenko T, Perry J, Raine K, Richardson D, Shepherd R, Small A, Varian J, West S, Widaa S, Mallya U, Wooster R, Moon J, Luo Y, Hughes H, Shaw M, Friend KL, Corbett M, Turner G, Partington M, Mulley J, Bobrow M, Schwartz C, Stevenson R, Gecz J, Stratton MR, Futreal PA, Raymond FL. Field M, et al. Among authors: corbett m. Am J Hum Genet. 2007 Aug;81(2):367-74. doi: 10.1086/520677. Epub 2007 Jun 26. Am J Hum Genet. 2007. PMID: 17668385 Free PMC article.
A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24.
Corbett MA, Bahlo M, Jolly L, Afawi Z, Gardner AE, Oliver KL, Tan S, Coffey A, Mulley JC, Dibbens LM, Simri W, Shalata A, Kivity S, Jackson GD, Berkovic SF, Gecz J. Corbett MA, et al. Am J Hum Genet. 2010 Sep 10;87(3):371-5. doi: 10.1016/j.ajhg.2010.08.001. Am J Hum Genet. 2010. PMID: 20797691 Free PMC article.
Transcriptome profiling of UPF3B/NMD-deficient lymphoblastoid cells from patients with various forms of intellectual disability.
Nguyen LS, Jolly L, Shoubridge C, Chan WK, Huang L, Laumonnier F, Raynaud M, Hackett A, Field M, Rodriguez J, Srivastava AK, Lee Y, Long R, Addington AM, Rapoport JL, Suren S, Hahn CN, Gamble J, Wilkinson MF, Corbett MA, Gecz J. Nguyen LS, et al. Among authors: corbett ma. Mol Psychiatry. 2012 Nov;17(11):1103-15. doi: 10.1038/mp.2011.163. Epub 2011 Dec 20. Mol Psychiatry. 2012. PMID: 22182939 Free PMC article.
A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability.
Huang L, Jolly LA, Willis-Owen S, Gardner A, Kumar R, Douglas E, Shoubridge C, Wieczorek D, Tzschach A, Cohen M, Hackett A, Field M, Froyen G, Hu H, Haas SA, Ropers HH, Kalscheuer VM, Corbett MA, Gecz J. Huang L, et al. Among authors: corbett ma. Am J Hum Genet. 2012 Oct 5;91(4):694-702. doi: 10.1016/j.ajhg.2012.08.011. Epub 2012 Sep 20. Am J Hum Genet. 2012. PMID: 23000143 Free PMC article.
Developmental disorders: deciphering exomes on a grand scale.
Gecz J, Corbett M. Gecz J, et al. Among authors: corbett m. Lancet. 2015 Apr 4;385(9975):1266-7. doi: 10.1016/S0140-6736(14)62122-X. Epub 2014 Dec 17. Lancet. 2015. PMID: 25529583 Free article. No abstract available.
584 results