den Dunnen JT - Search Results

1

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.

2

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

3

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

4

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

5

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

6

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

7

HGVS Recommendations for the Description of Sequence Variants: 2016 Update.

den Dunnen JT, Dalgleish R, Maglott DR, Hart RK, Greenblatt MS, McGowan-Jordan J, Roux AF, Smith T, Antonarakis SE, Taschner PE. den Dunnen JT, et al. Hum Mutat. 2016 Jun;37(6):564-9. doi: 10.1002/humu.22981. Epub 2016 Mar 25. Hum Mutat. 2016. PMID: 26931183

8

Mutalyzer 2: next generation HGVS nomenclature checker.

Lefter M, Vis JK, Vermaat M, den Dunnen JT, Taschner PEM, Laros JFJ. Lefter M, et al. Among authors: den dunnen jt. Bioinformatics. 2021 Sep 29;37(18):2811-2817. doi: 10.1093/bioinformatics/btab051. Bioinformatics. 2021. PMID: 33538839 Free PMC article.

9

The Implicitome: A Resource for Rationalizing Gene-Disease Associations.

Hettne KM, Thompson M, van Haagen HH, van der Horst E, Kaliyaperumal R, Mina E, Tatum Z, Laros JF, van Mulligen EM, Schuemie M, Aten E, Li TS, Bruskiewich R, Good BM, Su AI, Kors JA, den Dunnen J, van Ommen GJ, Roos M, 't Hoen PA, Mons B, Schultes EA. Hettne KM, et al. PLoS One. 2016 Feb 26;11(2):e0149621. doi: 10.1371/journal.pone.0149621. eCollection 2016. PLoS One. 2016. PMID: 26919047 Free PMC article.

10

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

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