Fokkema IF - Search Results

1

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. Hum Mutat. 2011 May;32(5):557-63. doi: 10.1002/humu.21438. Epub 2011 Feb 22. Hum Mutat. 2011. PMID: 21520333

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. Hum Mutat. 2005 Aug;26(2):63-8. doi: 10.1002/humu.20201. Hum Mutat. 2005. PMID: 15977173

3

Entries in the Leiden Duchenne muscular dystrophy mutation database: an overview of mutation types and paradoxical cases that confirm the reading-frame rule.

Aartsma-Rus A, Van Deutekom JC, Fokkema IF, Van Ommen GJ, Den Dunnen JT. Aartsma-Rus A, et al. Among authors: fokkema if. Muscle Nerve. 2006 Aug;34(2):135-44. doi: 10.1002/mus.20586. Muscle Nerve. 2006. PMID: 16770791 Review.

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. Hum Mutat. 2009 Mar;30(3):293-9. doi: 10.1002/humu.20918. Hum Mutat. 2009. PMID: 19156838 Review.

5

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: fokkema if. 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.

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: fokkema if. Hum Mutat. 2010 Nov;31(11):1205-15. doi: 10.1002/humu.21343. Hum Mutat. 2010. PMID: 20725929

7

The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms.

Campeau PM, Lu JT, Dawson BC, Fokkema IF, Robertson SP, Gibbs RA, Lee BH. Campeau PM, et al. Among authors: fokkema if. Hum Mutat. 2012 Nov;33(11):1520-5. doi: 10.1002/humu.22141. Epub 2012 Jul 12. Hum Mutat. 2012. PMID: 22715153 Free PMC article. Review.

8

The Finnish disease heritage database (FinDis) update-a database for the genes mutated in the Finnish disease heritage brought to the next-generation sequencing era.

Polvi A, Linturi H, Varilo T, Anttonen AK, Byrne M, Fokkema IF, Almusa H, Metzidis A, Avela K, Aula P, Kestilä M, Muilu J. Polvi A, et al. Among authors: fokkema if. Hum Mutat. 2013 Nov;34(11):1458-66. doi: 10.1002/humu.22389. Epub 2013 Sep 13. Hum Mutat. 2013. PMID: 23904198

9

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. 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.

10

VarioML framework for comprehensive variation data representation and exchange.

Byrne M, Fokkema IF, Lancaster O, Adamusiak T, Ahonen-Bishopp A, Atlan D, Béroud C, Cornell M, Dalgleish R, Devereau A, Patrinos GP, Swertz MA, Taschner PE, Thorisson GA, Vihinen M, Brookes AJ, Muilu J. Byrne M, et al. Among authors: fokkema if. BMC Bioinformatics. 2012 Oct 3;13:254. doi: 10.1186/1471-2105-13-254. BMC Bioinformatics. 2012. PMID: 23031277 Free PMC article.

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