den Dunnen JT - Search Results

1

beta-Globin mutation detection by tagged single-base extension and hybridization to universal glass and flow-through microarrays.

van Moorsel CH, van Wijngaarden EE, Fokkema IF, den Dunnen JT, Roos D, van Zwieten R, Giordano PC, Harteveld CL. van Moorsel CH, et al. Among authors: den dunnen jt. Eur J Hum Genet. 2004 Jul;12(7):567-73. doi: 10.1038/sj.ejhg.5201192. Eur J Hum Genet. 2004. PMID: 15069457

2

Therapeutic exon skipping for dysferlinopathies?

Aartsma-Rus A, Singh KH, Fokkema IF, Ginjaar IB, van Ommen GJ, den Dunnen JT, van der Maarel SM. Aartsma-Rus A, et al. Among authors: den dunnen jt. Eur J Hum Genet. 2010 Aug;18(8):889-94. doi: 10.1038/ejhg.2010.4. Epub 2010 Feb 10. Eur J Hum Genet. 2010. PMID: 20145676 Free PMC article.

3

Fine-tiling array CGH to improve diagnostics for α- and β-thalassemia rearrangements.

Phylipsen M, Chaibunruang A, Vogelaar IP, Balak JR, Schaap RA, Ariyurek Y, Fucharoen S, den Dunnen JT, Giordano PC, Bakker E, Harteveld CL. Phylipsen M, et al. Among authors: den dunnen jt. Hum Mutat. 2012 Jan;33(1):272-80. doi: 10.1002/humu.21612. Epub 2011 Oct 31. Hum Mutat. 2012. PMID: 21922597

4

Rapid genotyping of blood group antigens by multiplex polymerase chain reaction and DNA microarray hybridization.

Beiboer SH, Wieringa-Jelsma T, Maaskant-Van Wijk PA, van der Schoot CE, van Zwieten R, Roos D, den Dunnen JT, de Haas M. Beiboer SH, et al. Among authors: den dunnen jt. Transfusion. 2005 May;45(5):667-79. doi: 10.1111/j.1537-2995.2005.04319.x. Transfusion. 2005. PMID: 15847653

5

Molecular diagnostics of the HBB gene in an Omani cohort using bench-top DNA Ion Torrent PGM technology.

Hassan SM, Vossen RH, Chessa R, den Dunnen JT, Bakker E, Giordano PC, Harteveld CL. Hassan SM, et al. Among authors: den dunnen jt. Blood Cells Mol Dis. 2014 Sep;53(3):133-7. doi: 10.1016/j.bcmd.2014.05.002. Epub 2014 May 28. Blood Cells Mol Dis. 2014. PMID: 24880717

6

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: den dunnen jt. 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.

7

LOVD: easy creation of a locus-specific sequence variation database using an "LSDB-in-a-box" approach.

Fokkema IF, den Dunnen JT, Taschner PE. Fokkema IF, et al. Among authors: den dunnen jt. Hum Mutat. 2005 Aug;26(2):63-8. doi: 10.1002/humu.20201. Hum Mutat. 2005. PMID: 15977173

8

The LOVD3 platform: efficient genome-wide sharing of genetic variants.

Fokkema IFAC, Kroon M, López Hernández JA, Asscheman D, Lugtenburg I, Hoogenboom J, den Dunnen JT. Fokkema IFAC, et al. Among authors: den dunnen jt. Eur J Hum Genet. 2021 Dec;29(12):1796-1803. doi: 10.1038/s41431-021-00959-x. Epub 2021 Sep 15. Eur J Hum Genet. 2021. PMID: 34521998 Free PMC article.

9

Novel synonymous substitution in POMGNT1 promotes exon skipping in a patient with congenital muscular dystrophy.

Oliveira J, Soares-Silva I, Fokkema I, Gonçalves A, Cabral A, Diogo L, Galán L, Guimarães A, Fineza I, den Dunnen JT, Santos R. Oliveira J, et al. Among authors: den dunnen jt. J Hum Genet. 2008;53(6):565-572. doi: 10.1007/s10038-008-0263-5. Epub 2008 Mar 11. J Hum Genet. 2008. PMID: 18330676

10

Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data.

Fokkema IFAC, van der Velde KJ, Slofstra MK, Ruivenkamp CAL, Vogel MJ, Pfundt R, Blok MJ, Lekanne Deprez RH, Waisfisz Q, Abbott KM, Sinke RJ, Rahman R, Nijman IJ, de Koning B, Thijs G, Wieskamp N, Moritz RJG, Charbon B, Saris JJ, den Dunnen JT, Laros JFJ, Swertz MA, van Gijn ME. Fokkema IFAC, et al. Among authors: den dunnen jt. Hum Mutat. 2019 Dec;40(12):2230-2238. doi: 10.1002/humu.23896. Epub 2019 Sep 3. Hum Mutat. 2019. PMID: 31433103 Free PMC article.

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