White SJ - Search Results

1

Breakpoint characterization of a rare alpha⁰ -thalassemia deletion using targeted locus amplification on genomic DNA.

Hottentot QP, de Meijer E, Buermans HPJ, White SJ, Harteveld CL. Hottentot QP, et al. Among authors: white sj. Int J Lab Hematol. 2021 Dec;43(6):1628-1634. doi: 10.1111/ijlh.13651. Epub 2021 Jul 12. Int J Lab Hematol. 2021. PMID: 34251753 Free PMC article.

2

Targeted Locus Amplification and Next-Generation Sequencing.

Hottentot QP, van Min M, Splinter E, White SJ. Hottentot QP, et al. Among authors: white sj. Methods Mol Biol. 2017;1492:185-196. doi: 10.1007/978-1-4939-6442-0_13. Methods Mol Biol. 2017. PMID: 27822865

3

Refinement of the genetic cause of ATR-16.

Harteveld CL, Kriek M, Bijlsma EK, Erjavec Z, Balak D, Phylipsen M, Voskamp A, di Capua E, White SJ, Giordano PC. Harteveld CL, et al. Among authors: white sj. Hum Genet. 2007 Nov;122(3-4):283-92. doi: 10.1007/s00439-007-0399-y. Epub 2007 Jun 28. Hum Genet. 2007. PMID: 17598130

4

Nine unknown rearrangements in 16p13.3 and 11p15.4 causing alpha- and beta-thalassaemia characterised by high resolution multiplex ligation-dependent probe amplification.

Harteveld CL, Voskamp A, Phylipsen M, Akkermans N, den Dunnen JT, White SJ, Giordano PC. Harteveld CL, et al. Among authors: white sj. J Med Genet. 2005 Dec;42(12):922-31. doi: 10.1136/jmg.2005.033597. Epub 2005 May 13. J Med Genet. 2005. PMID: 15894596 Free PMC article.

5

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.

6

Quantitative DNA Analysis Using Droplet Digital PCR.

Vossen RH, White SJ. Vossen RH, et al. Among authors: white sj. Methods Mol Biol. 2017;1492:167-177. doi: 10.1007/978-1-4939-6442-0_11. Methods Mol Biol. 2017. PMID: 27822863

7

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

8

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

9

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.

10

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

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