White SJ - Search Results

1

Complex SNP-related sequence variation in segmental genome duplications.

Fredman D, White SJ, Potter S, Eichler EE, Den Dunnen JT, Brookes AJ. Fredman D, et al. Among authors: white sj. Nat Genet. 2004 Aug;36(8):861-6. doi: 10.1038/ng1401. Epub 2004 Jul 11. Nat Genet. 2004. PMID: 15247918

2

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.

3

Copy number variation in regions flanked (or unflanked) by duplicons among patients with developmental delay and/or congenital malformations; detection of reciprocal and partial Williams-Beuren duplications.

Kriek M, White SJ, Szuhai K, Knijnenburg J, van Ommen GJ, den Dunnen JT, Breuning MH. Kriek M, et al. Among authors: white sj. Eur J Hum Genet. 2006 Feb;14(2):180-9. doi: 10.1038/sj.ejhg.5201540. Eur J Hum Genet. 2006. PMID: 16391556

4

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.

5

Genomic imbalances in mental retardation.

Kriek M, White SJ, Bouma MC, Dauwerse HG, Hansson KB, Nijhuis JV, Bakker B, van Ommen GJ, den Dunnen JT, Breuning MH. Kriek M, et al. Among authors: white sj. J Med Genet. 2004 Apr;41(4):249-55. doi: 10.1136/jmg.2003.014308. J Med Genet. 2004. PMID: 15060096 Free PMC article.

6

A complex rearrangement on chromosome 22 affecting both homologues; haplo-insufficiency of the Cat eye syndrome region may have no clinical relevance.

Kriek M, Szuhai K, Kant SG, White SJ, Dauwerse H, Fiegler H, Carter NP, Knijnenburg J, den Dunnen JT, Tanke HJ, Breuning MH, Rosenberg C. Kriek M, et al. Among authors: white sj. Hum Genet. 2006 Aug;120(1):77-84. doi: 10.1007/s00439-006-0185-2. Epub 2006 May 18. Hum Genet. 2006. PMID: 16708226

7

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.

8

Deletion and duplication screening in the DMD gene using MLPA.

Lalic T, Vossen RH, Coffa J, Schouten JP, Guc-Scekic M, Radivojevic D, Djurisic M, Breuning MH, White SJ, den Dunnen JT. Lalic T, et al. Among authors: white sj. Eur J Hum Genet. 2005 Nov;13(11):1231-4. doi: 10.1038/sj.ejhg.5201465. Eur J Hum Genet. 2005. PMID: 16030524

9

Diagnosis of genetic abnormalities in developmentally delayed patients: a new strategy combining MLPA and array-CGH.

Kriek M, Knijnenburg J, White SJ, Rosenberg C, den Dunnen JT, van Ommen GJ, Tanke HJ, Breuning MH, Szuhai K. Kriek M, et al. Among authors: white sj. Am J Med Genet A. 2007 Mar 15;143A(6):610-4. doi: 10.1002/ajmg.a.31593. Am J Med Genet A. 2007. PMID: 17318845 No abstract available.

10

Skewed X-inactivation is common in the general female population.

Shvetsova E, Sofronova A, Monajemi R, Gagalova K, Draisma HHM, White SJ, Santen GWE, Chuva de Sousa Lopes SM, Heijmans BT, van Meurs J, Jansen R, Franke L, Kiełbasa SM, den Dunnen JT, 't Hoen PAC; BIOS consortium; GoNL consortium. Shvetsova E, et al. Among authors: white sj. Eur J Hum Genet. 2019 Mar;27(3):455-465. doi: 10.1038/s41431-018-0291-3. Epub 2018 Dec 14. Eur J Hum Genet. 2019. PMID: 30552425 Free PMC article.

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