Burgess T - Search Results

1

Preparation and validation of the first WHO international genetic reference panel for Fragile X syndrome.

Hawkins M, Boyle J, Wright KE, Elles R, Ramsden SC, O'Grady A, Sweeney M, Barton DE, Burgess T, Moore M, Burns C, Stacey G, Gray E, Metcalfe P, Hawkins JR. Hawkins M, et al. Among authors: burgess t. Eur J Hum Genet. 2011 Jan;19(1):10-7. doi: 10.1038/ejhg.2010.135. Epub 2010 Aug 25. Eur J Hum Genet. 2011. PMID: 20736975 Free PMC article.

2

Methylation of novel markers of fragile X alleles is inversely correlated with FMRP expression and FMR1 activation ratio.

Godler DE, Tassone F, Loesch DZ, Taylor AK, Gehling F, Hagerman RJ, Burgess T, Ganesamoorthy D, Hennerich D, Gordon L, Evans A, Choo KH, Slater HR. Godler DE, et al. Among authors: burgess t. Hum Mol Genet. 2010 Apr 15;19(8):1618-32. doi: 10.1093/hmg/ddq037. Epub 2010 Jan 29. Hum Mol Genet. 2010. PMID: 20118148 Free PMC article.

3

Small CGG repeat expansion alleles of FMR1 gene are associated with parkinsonism.

Loesch DZ, Khaniani MS, Slater HR, Rubio JP, Bui QM, Kotschet K, D'Souza W, Venn A, Kalitsis P, Choo AK, Burgess T, Johnson L, Evans A, Horne M. Loesch DZ, et al. Among authors: burgess t. Clin Genet. 2009 Nov;76(5):471-6. doi: 10.1111/j.1399-0004.2009.01275.x. Epub 2009 Sep 30. Clin Genet. 2009. PMID: 19796183 Free PMC article.

4

Psychological status in female carriers of premutation FMR1 allele showing a complex relationship with the size of CGG expansion.

Loesch DZ, Bui MQ, Hammersley E, Schneider A, Storey E, Stimpson P, Burgess T, Francis D, Slater H, Tassone F, Hagerman RJ, Hessl D. Loesch DZ, et al. Among authors: burgess t. Clin Genet. 2015 Feb;87(2):173-8. doi: 10.1111/cge.12347. Epub 2014 Feb 17. Clin Genet. 2015. PMID: 24428240 Free PMC article.

5

Clinical audit of genetic testing and referral patterns for fragile X and associated conditions.

Cotter M, Archibald AD, McClaren BJ, Burgess T, Francis D, Hills L, Martyn M, Oertel R, Slater H, Cohen J, Metcalfe SA. Cotter M, et al. Among authors: burgess t. Am J Med Genet A. 2016 Jun;170(6):1439-49. doi: 10.1002/ajmg.a.37603. Epub 2016 Feb 18. Am J Med Genet A. 2016. PMID: 26892444

6

FMR1 alleles in Tasmania: a screening study of the special educational needs population.

Mitchell RJ, Holden JJ, Zhang C, Curlis Y, Slater HR, Burgess T, Kirkby KC, Carmichael A, Heading KD, Loesch DZ. Mitchell RJ, et al. Among authors: burgess t. Clin Genet. 2005 Jan;67(1):38-46. doi: 10.1111/j.1399-0004.2004.00344.x. Clin Genet. 2005. PMID: 15617547

7

Clinical exome sequencing efficacy and phenotypic expansions involving anomalous pulmonary venous return.

Huth EA, Zhao X, Owen N, Luna PN, Vogel I, Dorf ILH, Joss S, Clayton-Smith J, Parker MJ, Louw JJ, Gewillig M, Breckpot J, Kraus A, Sasaki E, Kini U, Burgess T, Tan TY, Armstrong R, Neas K, Ferrero GB, Brusco A, Kerstjens-Frederikse WS, Rankin J, Helvaty LR, Landis BJ, Geddes GC, McBride KL, Ware SM, Shaw CA, Lalani SR, Rosenfeld JA, Scott DA. Huth EA, et al. Among authors: burgess t. Eur J Hum Genet. 2023 Dec;31(12):1430-1439. doi: 10.1038/s41431-023-01451-4. Epub 2023 Sep 7. Eur J Hum Genet. 2023. PMID: 37673932 Free PMC article.

8

A model for offering carrier screening for fragile X syndrome to nonpregnant women: results from a pilot study.

Metcalfe S, Jacques A, Archibald A, Burgess T, Collins V, Henry A, McNamee K, Sheffield L, Slater H, Wake S, Cohen J. Metcalfe S, et al. Among authors: burgess t. Genet Med. 2008 Jul;10(7):525-35. doi: 10.1097/gim.0b013e31817c036e. Genet Med. 2008. PMID: 18580686

9

Communicating microarray results of uncertain clinical significance in consultation summary letters and implications for practice.

Paul JL, Pope-Couston R, Wake S, Burgess T, Tan TY. Paul JL, et al. Among authors: burgess t. Eur J Hum Genet. 2016 Jan;25(1):22-30. doi: 10.1038/ejhg.2016.135. Epub 2016 Nov 16. Eur J Hum Genet. 2016. PMID: 27848942 Free PMC article.

10

Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests.

Archibald AD, Smith MJ, Burgess T, Scarff KL, Elliott J, Hunt CE, McDonald Z, Barns-Jenkins C, Holt C, Sandoval K, Siva Kumar V, Ward L, Allen EC, Collis SV, Cowie S, Francis D, Delatycki MB, Yiu EM, Massie RJ, Pertile MD, du Sart D, Bruno D, Amor DJ. Archibald AD, et al. Among authors: burgess t. Genet Med. 2018 Apr;20(5):513-523. doi: 10.1038/gim.2017.134. Epub 2017 Oct 26. Genet Med. 2018. PMID: 29261177 Free article.

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