Mook OR - Search Results

1

Targeted sequence capture and GS-FLX Titanium sequencing of 23 hypertrophic and dilated cardiomyopathy genes: implementation into diagnostics.

Mook OR, Haagmans MA, Soucy JF, van de Meerakker JB, Baas F, Jakobs ME, Hofman N, Christiaans I, Lekanne Deprez RH, Mannens MM. Mook OR, et al. J Med Genet. 2013 Sep;50(9):614-26. doi: 10.1136/jmedgenet-2012-101231. Epub 2013 Jun 19. J Med Genet. 2013. PMID: 23785128 Free PMC article.

2

A novel alpha-tropomyosin mutation associates with dilated and non-compaction cardiomyopathy and diminishes actin binding.

van de Meerakker JB, Christiaans I, Barnett P, Lekanne Deprez RH, Ilgun A, Mook OR, Mannens MM, Lam J, Wilde AA, Moorman AF, Postma AV. van de Meerakker JB, et al. Among authors: mook or. Biochim Biophys Acta. 2013 Apr;1833(4):833-9. doi: 10.1016/j.bbamcr.2012.11.003. Epub 2012 Nov 9. Biochim Biophys Acta. 2013. PMID: 23147248 Free article.

3

Best practice guidelines for the use of next-generation sequencing applications in genome diagnostics: a national collaborative study of Dutch genome diagnostic laboratories.

Weiss MM, Van der Zwaag B, Jongbloed JD, Vogel MJ, Brüggenwirth HT, Lekanne Deprez RH, Mook O, Ruivenkamp CA, van Slegtenhorst MA, van den Wijngaard A, Waisfisz Q, Nelen MR, van der Stoep N. Weiss MM, et al. Hum Mutat. 2013 Oct;34(10):1313-21. doi: 10.1002/humu.22368. Epub 2013 Aug 19. Hum Mutat. 2013. PMID: 23776008 Review.

4

The therapeutic potential of LNA-modified siRNAs: reduction of off-target effects by chemical modification of the siRNA sequence.

Fluiter K, Mook OR, Baas F. Fluiter K, et al. Among authors: mook or. Methods Mol Biol. 2009;487:189-203. doi: 10.1007/978-1-60327-547-7_9. Methods Mol Biol. 2009. PMID: 19301648 Review.

5

Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome.

Alders M, Al-Gazali L, Cordeiro I, Dallapiccola B, Garavelli L, Tuysuz B, Salehi F, Haagmans MA, Mook OR, Majoie CB, Mannens MM, Hennekam RC. Alders M, et al. Among authors: mook or. Hum Genet. 2014 Sep;133(9):1161-7. doi: 10.1007/s00439-014-1456-y. Epub 2014 Jun 7. Hum Genet. 2014. PMID: 24913602

6

Allele-specific cancer cell killing in vitro and in vivo targeting a single-nucleotide polymorphism in POLR2A.

Mook OR, Baas F, de Wissel MB, Fluiter K. Mook OR, et al. Cancer Gene Ther. 2009 Jun;16(6):532-8. doi: 10.1038/cgt.2008.104. Epub 2009 Jan 23. Cancer Gene Ther. 2009. PMID: 19165236

7

RELN rare variants in myoclonus-dystonia.

Groen JL, Ritz K, Jalalzadeh H, van der Salm SM, Jongejan A, Mook OR, Haagmans MA, Zwinderman AH, Motazacker MM, Hennekam RC, Baas F, Tijssen MA. Groen JL, et al. Among authors: mook or. Mov Disord. 2015 Mar;30(3):415-9. doi: 10.1002/mds.26070. Epub 2015 Feb 4. Mov Disord. 2015. PMID: 25648840

8

Large next-generation sequencing gene panels in genetic heart disease: challenges in clinical practice.

Christiaans I, Mook ORF, Alders M, Bikker H, Lekanne Dit Deprez RH. Christiaans I, et al. Neth Heart J. 2019 Jun;27(6):299-303. doi: 10.1007/s12471-019-1251-4. Neth Heart J. 2019. PMID: 30847665 Free PMC article.

9

Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significance.

van Lint FHM, Mook ORF, Alders M, Bikker H, Lekanne Dit Deprez RH, Christiaans I. van Lint FHM, et al. Neth Heart J. 2019 Jun;27(6):304-309. doi: 10.1007/s12471-019-1250-5. Neth Heart J. 2019. PMID: 30847666 Free PMC article.

10

Evaluation of locked nucleic acid-modified small interfering RNA in vitro and in vivo.

Mook OR, Baas F, de Wissel MB, Fluiter K. Mook OR, et al. Mol Cancer Ther. 2007 Mar;6(3):833-43. doi: 10.1158/1535-7163.MCT-06-0195. Mol Cancer Ther. 2007. PMID: 17363479 Free article.

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