White SJ - Search Results

1

Multiallelic copy number variation in the complement component 4A (C4A) gene is associated with late-stage age-related macular degeneration (AMD).

Grassmann F, Cantsilieris S, Schulz-Kuhnt AS, White SJ, Richardson AJ, Hewitt AW, Vote BJ, Schmied D, Guymer RH, Weber BH, Baird PN. Grassmann F, et al. Among authors: white sj. J Neuroinflammation. 2016 Apr 18;13(1):81. doi: 10.1186/s12974-016-0548-0. J Neuroinflammation. 2016. PMID: 27090374 Free PMC article.

2

Comprehensive analysis of Copy Number Variation of genes at chromosome 1 and 10 loci associated with late age related macular degeneration.

Cantsilieris S, White SJ, Richardson AJ, Guymer RH, Baird PN. Cantsilieris S, et al. Among authors: white sj. PLoS One. 2012;7(4):e35255. doi: 10.1371/journal.pone.0035255. Epub 2012 Apr 25. PLoS One. 2012. PMID: 22558131 Free PMC article.

3

Correlating multiallelic copy number polymorphisms with disease susceptibility.

Cantsilieris S, White SJ. Cantsilieris S, et al. Among authors: white sj. Hum Mutat. 2013 Jan;34(1):1-13. doi: 10.1002/humu.22172. Epub 2012 Aug 23. Hum Mutat. 2013. PMID: 22837109 Review.

4

Molecular methods for genotyping complex copy number polymorphisms.

Cantsilieris S, Baird PN, White SJ. Cantsilieris S, et al. Among authors: white sj. Genomics. 2013 Feb;101(2):86-93. doi: 10.1016/j.ygeno.2012.10.004. Epub 2012 Oct 30. Genomics. 2013. PMID: 23123317 Free article. Review.

5

Technical considerations for genotyping multi-allelic copy number variation (CNV), in regions of segmental duplication.

Cantsilieris S, Western PS, Baird PN, White SJ. Cantsilieris S, et al. Among authors: white sj. BMC Genomics. 2014 May 1;15(1):329. doi: 10.1186/1471-2164-15-329. BMC Genomics. 2014. PMID: 24885186 Free PMC article.

6

Rare variants in non-coding regulatory regions of the genome that affect gene expression in systemic lupus erythematosus.

Jones SA, Cantsilieris S, Fan H, Cheng Q, Russ BE, Tucker EJ, Harris J, Rudloff I, Nold M, Northcott M, Dankers W, Toh AEJ, White SJ, Morand EF. Jones SA, et al. Among authors: white sj. Sci Rep. 2019 Oct 28;9(1):15433. doi: 10.1038/s41598-019-51864-9. Sci Rep. 2019. PMID: 31659207 Free PMC article. Clinical Trial.

7

Genotyping Multiallelic Copy Number Variation with Multiplex Ligation-Dependent Probe Amplification (MLPA).

de Boer S, White SJ. de Boer S, et al. Among authors: white sj. Methods Mol Biol. 2017;1492:147-153. doi: 10.1007/978-1-4939-6442-0_9. Methods Mol Biol. 2017. PMID: 27822861

8

Copy number variation and mosaicism.

Notini AJ, Craig JM, White SJ. Notini AJ, et al. Among authors: white sj. Cytogenet Genome Res. 2008;123(1-4):270-7. doi: 10.1159/000184717. Epub 2009 Mar 11. Cytogenet Genome Res. 2008. PMID: 19287164 Review.

9

Counting copy number and calories.

White S. White S. Nat Genet. 2015 Aug;47(8):852-3. doi: 10.1038/ng.3365. Nat Genet. 2015. PMID: 26220133

10

Copy number variation in the genome; the human DMD gene as an example.

White SJ, den Dunnen JT. White SJ, et al. Cytogenet Genome Res. 2006;115(3-4):240-6. doi: 10.1159/000095920. Cytogenet Genome Res. 2006. PMID: 17124406 Review.

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