den Dunnen JT - Search Results

1

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

2

Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker.

Wildeman M, van Ophuizen E, den Dunnen JT, Taschner PE. Wildeman M, et al. Among authors: den dunnen jt. Hum Mutat. 2008 Jan;29(1):6-13. doi: 10.1002/humu.20654. Hum Mutat. 2008. PMID: 18000842

3

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

4

Theoretic applicability of antisense-mediated exon skipping for Duchenne muscular dystrophy mutations.

Aartsma-Rus A, Fokkema I, Verschuuren J, Ginjaar I, van Deutekom J, van Ommen GJ, den Dunnen JT. Aartsma-Rus A, et al. Among authors: den dunnen jt. Hum Mutat. 2009 Mar;30(3):293-9. doi: 10.1002/humu.20918. Hum Mutat. 2009. PMID: 19156838 Review.

5

Deep sequencing to reveal new variants in pooled DNA samples.

Out AA, van Minderhout IJ, Goeman JJ, Ariyurek Y, Ossowski S, Schneeberger K, Weigel D, van Galen M, Taschner PE, Tops CM, Breuning MH, van Ommen GJ, den Dunnen JT, Devilee P, Hes FJ. Out AA, et al. Among authors: den dunnen jt. Hum Mutat. 2009 Dec;30(12):1703-12. doi: 10.1002/humu.21122. Hum Mutat. 2009. PMID: 19842214

6

Leiden Open Variation Database of the MUTYH gene.

Out AA, Tops CM, Nielsen M, Weiss MM, van Minderhout IJ, Fokkema IF, Buisine MP, Claes K, Colas C, Fodde R, Fostira F, Franken PF, Gaustadnes M, Heinimann K, Hodgson SV, Hogervorst FB, Holinski-Feder E, Lagerstedt-Robinson K, Olschwang S, van den Ouweland AM, Redeker EJ, Scott RJ, Vankeirsbilck B, Grønlund RV, Wijnen JT, Wikman FP, Aretz S, Sampson JR, Devilee P, den Dunnen JT, Hes FJ. Out AA, et al. Among authors: den dunnen jt. Hum Mutat. 2010 Nov;31(11):1205-15. doi: 10.1002/humu.21343. Hum Mutat. 2010. PMID: 20725929

7

Describing structural changes by extending HGVS sequence variation nomenclature.

Taschner PE, den Dunnen JT. Taschner PE, et al. Among authors: den dunnen jt. Hum Mutat. 2011 May;32(5):507-11. doi: 10.1002/humu.21427. Epub 2011 Mar 15. Hum Mutat. 2011. PMID: 21309030

8

LOVD v.2.0: the next generation in gene variant databases.

Fokkema IF, Taschner PE, Schaafsma GC, Celli J, Laros JF, den Dunnen JT. Fokkema IF, et al. Among authors: den dunnen jt. Hum Mutat. 2011 May;32(5):557-63. doi: 10.1002/humu.21438. Epub 2011 Feb 22. Hum Mutat. 2011. PMID: 21520333

9

Curating gene variant databases (LSDBs): toward a universal standard.

Celli J, Dalgleish R, Vihinen M, Taschner PE, den Dunnen JT. Celli J, et al. Among authors: den dunnen jt. Hum Mutat. 2012 Feb;33(2):291-7. doi: 10.1002/humu.21626. Epub 2011 Nov 3. Hum Mutat. 2012. PMID: 21990126

10

A formalized description of the standard human variant nomenclature in Extended Backus-Naur Form.

Laros JF, Blavier A, den Dunnen JT, Taschner PE. Laros JF, et al. Among authors: den dunnen jt. BMC Bioinformatics. 2011;12 Suppl 4(Suppl 4):S5. doi: 10.1186/1471-2105-12-S4-S5. Epub 2011 Jul 5. BMC Bioinformatics. 2011. PMID: 21992071 Free PMC article.

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