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Items: 1 to 20 of 27

1.

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.

Mol Autism. 2019 May 3;10:21. doi: 10.1186/s13229-019-0271-7. eCollection 2019.

2.

Clinical and Molecular Differences between 4-Year-Old Monozygous Male Twins Mosaic for Normal, Premutation and Fragile X Full Mutation Alleles.

Pandelache A, Baker EK, Aliaga SM, Arpone M, Forbes R, Stark Z, Francis D, Godler DE.

Genes (Basel). 2019 Apr 5;10(4). pii: E279. doi: 10.3390/genes10040279.

3.

Analysis of the Prader-Willi syndrome imprinting center using droplet digital PCR and next-generation whole-exome sequencing.

Hartin SN, Hossain WA, Francis D, Godler DE, Barkataki S, Butler MG.

Mol Genet Genomic Med. 2019 Apr;7(4):e00575. doi: 10.1002/mgg3.575. Epub 2019 Feb 21.

4.

Epigenetics of fragile X syndrome and fragile X-related disorders.

Kraan CM, Godler DE, Amor DJ.

Dev Med Child Neurol. 2019 Feb;61(2):121-127. doi: 10.1111/dmcn.13985. Epub 2018 Aug 7. Review.

PMID:
30084485
5.

Exploring autism symptoms in an Australian cohort of patients with Prader-Willi and Angelman syndromes.

Baker EK, Godler DE, Bui M, Hickerton C, Rogers C, Field M, Amor DJ, Bretherton L.

J Neurodev Disord. 2018 Aug 6;10(1):24. doi: 10.1186/s11689-018-9242-0.

6.

Reduced caudate volume and cognitive slowing in men at risk of fragile X-associated tremor ataxia syndrome.

Cvejic RC, Hocking DR, Wen W, Georgiou-Karistianis N, Cornish KM, Godler DE, Rogers C, Trollor JN.

Brain Imaging Behav. 2018 Jul 25. doi: 10.1007/s11682-018-9928-7. [Epub ahead of print]

PMID:
30046972
7.

FMR1 allele size distribution in 35,000 males and females: a comparison of developmental delay and general population cohorts.

Kraan CM, Bui QM, Field M, Archibald AD, Metcalfe SA, Christie LM, Bennetts BH, Oertel R, Smith MJ, du Sart D, Bruno D, Wotton TL, Amor DJ, Francis D, Godler DE.

Genet Med. 2018 Dec;20(12):1627-1634. doi: 10.1038/gim.2018.52. Epub 2018 Mar 29.

PMID:
29595813
8.

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.

Sci Rep. 2018 Feb 26;8(1):3644. doi: 10.1038/s41598-018-21990-x.

9.

β-glucuronidase use as a single internal control gene may confound analysis in FMR1 mRNA toxicity studies.

Kraan CM, Cornish KM, Bui QM, Li X, Slater HR, Godler DE.

PLoS One. 2018 Feb 23;13(2):e0192151. doi: 10.1371/journal.pone.0192151. eCollection 2018.

10.

Cerebellar volume mediates the relationship between FMR1 mRNA levels and voluntary step initiation in males with the premutation.

Hocking DR, Birch RC, Bui QM, Menant JC, Lord SR, Georgiou-Karistianis N, Godler DE, Wen W, Hackett A, Rogers C, Trollor JN.

Neurobiol Aging. 2017 Feb;50:5-12. doi: 10.1016/j.neurobiolaging.2016.10.017. Epub 2016 Oct 15.

PMID:
27837676
11.

Selective subcortical contributions to gait impairments in males with the FMR1 premutation.

Birch RC, Hocking DR, Cornish KM, Menant JC, Lord SR, Georgiou-Karistianis N, Godler DE, Wen W, Rogers C, Trollor JN.

J Neurol Neurosurg Psychiatry. 2017 Feb;88(2):188-190. doi: 10.1136/jnnp-2016-313937. Epub 2016 Sep 28. No abstract available.

PMID:
27683920
12.

Identification of Males with Cryptic Fragile X Alleles by Methylation-Specific Quantitative Melt Analysis.

Aliaga SM, Slater HR, Francis D, Du Sart D, Li X, Amor DJ, Alliende AM, Santa Maria L, Faundes V, Morales P, Trigo C, Salas I, Curotto B, Godler DE.

Clin Chem. 2016 Feb;62(2):343-52. doi: 10.1373/clinchem.2015.244681. Epub 2015 Dec 29.

13.

Detection of skewed X-chromosome inactivation in Fragile X syndrome and X chromosome aneuploidy using quantitative melt analysis.

Godler DE, Inaba Y, Schwartz CE, Bui QM, Shi EZ, Li X, Herlihy AS, Skinner C, Hagerman RJ, Francis D, Amor DJ, Metcalfe SA, Hopper JL, Slater HR.

Expert Rev Mol Med. 2015 Jul 1;17:e13. doi: 10.1017/erm.2015.11. Review.

14.

Prenatal diagnosis of fragile X syndrome complicated by full mutation retraction.

Stark Z, Francis D, Gaffney L, Greenberg J, Hills L, Li X, Godler DE, Slater HR.

Am J Med Genet A. 2015 Oct;167A(10):2485-7. doi: 10.1002/ajmg.a.37163. Epub 2015 May 18. No abstract available.

PMID:
25988754
15.

Novel methylation markers of the dysexecutive-psychiatric phenotype in FMR1 premutation women.

Cornish KM, Kraan CM, Bui QM, Bellgrove MA, Metcalfe SA, Trollor JN, Hocking DR, Slater HR, Inaba Y, Li X, Archibald AD, Turbitt E, Cohen J, Godler DE.

Neurology. 2015 Apr 21;84(16):1631-8. doi: 10.1212/WNL.0000000000001496. Epub 2015 Mar 25.

16.

Delineation of the working memory profile in female FMR1 premutation carriers: the effect of cognitive load on ocular motor responses.

Shelton AL, Cornish KM, Godler DE, Clough M, Kraan C, Bui M, Fielding J.

Behav Brain Res. 2015 Apr 1;282:194-200. doi: 10.1016/j.bbr.2015.01.011. Epub 2015 Jan 13.

PMID:
25591477
17.

Evidence linking FMR1 mRNA and attentional demands of stepping and postural control in women with the premutation.

Hocking DR, Kraan CM, Godler DE, Bui QM, Li X, Bradshaw JL, Georgiou-Karistianis N, Metcalfe SA, Archibald AD, Turbitt E, Fielding J, Trollor J, Cohen J, Cornish KM.

Neurobiol Aging. 2015 Mar;36(3):1400-8. doi: 10.1016/j.neurobiolaging.2014.11.012. Epub 2014 Nov 26.

PMID:
25541421
18.

Methylation analysis in newborn screening for fragile X syndrome.

Godler DE, Amor DJ, Slater HR.

JAMA Neurol. 2014 Jun;71(6):800. doi: 10.1001/jamaneurol.2014.142. No abstract available.

PMID:
24911126
19.

Early detection of fragile X syndrome: applications of a novel approach for improved quantitative methylation analysis in venous blood and newborn blood spots.

Inaba Y, Schwartz CE, Bui QM, Li X, Skinner C, Field M, Wotton T, Hagerman RJ, Francis D, Amor DJ, Hopper JL, Loesch DZ, Bretherton L, Slater HR, Godler DE.

Clin Chem. 2014 Jul;60(7):963-73. doi: 10.1373/clinchem.2013.217331. Epub 2014 Apr 28.

20.

Relationships between age and epi-genotype of the FMR1 exon 1/intron 1 boundary are consistent with non-random X-chromosome inactivation in FM individuals, with the selection for the unmethylated state being most significant between birth and puberty.

Godler DE, Inaba Y, Shi EZ, Skinner C, Bui QM, Francis D, Amor DJ, Hopper JL, Loesch DZ, Hagerman RJ, Schwartz CE, Slater HR.

Hum Mol Genet. 2013 Apr 15;22(8):1516-24. doi: 10.1093/hmg/ddt002. Epub 2013 Jan 10.

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