White SJ - Search Results

1

Critical points for an accurate human genome analysis.

White SJ, Laros JFJ, Bakker E, Cambon-Thomsen A, Eden M, Leonard S, Lochmüller H, Matthijs G, Mattocks C, Patton S, Payne K, Scheffer H, Souche E, Thomassen E, Thompson R, Traeger-Synodinos J, Van Vooren S, Janssen B, den Dunnen JT. White SJ, et al. Hum Mutat. 2017 Aug;38(8):912-921. doi: 10.1002/humu.23238. Epub 2017 Jun 16. Hum Mutat. 2017. PMID: 28471515 Review.

2

MLPA and MAPH: sensitive detection of deletions and duplications.

den Dunnen JT, White SJ. den Dunnen JT, et al. Among authors: white sj. Curr Protoc Hum Genet. 2006 Nov;Chapter 7:Unit 7.14. doi: 10.1002/0471142905.hg0714s51. Curr Protoc Hum Genet. 2006. PMID: 18428396 Review.

3

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.

4

Two-color multiplex ligation-dependent probe amplification: detecting genomic rearrangements in hereditary multiple exostoses.

White SJ, Vink GR, Kriek M, Wuyts W, Schouten J, Bakker B, Breuning MH, den Dunnen JT. White SJ, et al. Hum Mutat. 2004 Jul;24(1):86-92. doi: 10.1002/humu.20054. Hum Mutat. 2004. PMID: 15221792

5

Sarcoglycanopathies and the risk of undetected deletion alleles in diagnosis.

White SJ, Uitte de Willige S, Verbove D, Politano L, Ginjaar I, Breuning MH, den Dunnen JT. White SJ, et al. Hum Mutat. 2005 Jul;26(1):59. doi: 10.1002/humu.9347. Hum Mutat. 2005. PMID: 15954112

6

Flexible and Scalable Full-Length CYP2D6 Long Amplicon PacBio Sequencing.

Buermans HP, Vossen RH, Anvar SY, Allard WG, Guchelaar HJ, White SJ, den Dunnen JT, Swen JJ, van der Straaten T. Buermans HP, et al. Among authors: white sj. Hum Mutat. 2017 Mar;38(3):310-316. doi: 10.1002/humu.23166. Epub 2017 Jan 18. Hum Mutat. 2017. PMID: 28044414 Free PMC article.

7

Methods to detect CNVs in the human genome.

Aten E, White SJ, Kalf ME, Vossen RH, Thygesen HH, Ruivenkamp CA, Kriek M, Breuning MH, den Dunnen JT. Aten E, et al. Among authors: white sj. Cytogenet Genome Res. 2008;123(1-4):313-21. doi: 10.1159/000184723. Epub 2009 Mar 11. Cytogenet Genome Res. 2008. PMID: 19287170

8

Detecting copy number changes in genomic DNA: MAPH and MLPA.

White SJ, Breuning MH, den Dunnen JT. White SJ, et al. Methods Cell Biol. 2004;75:751-68. doi: 10.1016/s0091-679x(04)75032-3. Methods Cell Biol. 2004. PMID: 15603451 No abstract available.

9

Duplications in the DMD gene.

White SJ, Aartsma-Rus A, Flanigan KM, Weiss RB, Kneppers AL, Lalic T, Janson AA, Ginjaar HB, Breuning MH, den Dunnen JT. White SJ, et al. Hum Mutat. 2006 Sep;27(9):938-45. doi: 10.1002/humu.20367. Hum Mutat. 2006. PMID: 16917894

10

Comprehensive detection of genomic duplications and deletions in the DMD gene, by use of multiplex amplifiable probe hybridization.

White S, Kalf M, Liu Q, Villerius M, Engelsma D, Kriek M, Vollebregt E, Bakker B, van Ommen GJ, Breuning MH, den Dunnen JT. White S, et al. Am J Hum Genet. 2002 Aug;71(2):365-74. doi: 10.1086/341942. Epub 2002 Jul 8. Am J Hum Genet. 2002. PMID: 12111668 Free PMC article.

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