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Results: 1 to 20 of 266

1.

The Human Variome Project: ensuring the quality of DNA variant databases in inherited renal disease.

Savige J, Dalgleish R, Cotton RG, den Dunnen JT, Macrae F, Povey S.

Pediatr Nephrol. 2014 Nov 11. [Epub ahead of print]

PMID:
25384529
[PubMed - as supplied by publisher]
2.

The genomic landscape of the verrucomicrobial methanotroph Methylacidiphilum fumariolicum SolV.

Anvar SY, Frank J, Pol A, Schmitz A, Kraaijeveld K, den Dunnen JT, Op den Camp HJ.

BMC Genomics. 2014 Oct 20;15:914. doi: 10.1186/1471-2164-15-914.

PMID:
25331649
[PubMed - in process]
Free PMC Article
3.

Selection and characterization of llama single domain antibodies against N-terminal huntingtin.

Schut MH, Pepers BA, Klooster R, van der Maarel SM, El Khatabi M, Verrips T, den Dunnen JT, van Ommen GJ, van Roon-Mom WM.

Neurol Sci. 2014 Oct 8. [Epub ahead of print]

PMID:
25294428
[PubMed - as supplied by publisher]
4.

Mutation update: the spectra of nebulin variants and associated myopathies.

Lehtokari VL, Kiiski K, Sandaradura SA, Laporte J, Repo P, Frey JA, Donner K, Marttila M, Saunders C, Barth PG, den Dunnen JT, Beggs AH, Clarke NF, North KN, Laing NG, Romero NB, Winder TL, Pelin K, Wallgren-Pettersson C.

Hum Mutat. 2014 Dec;35(12):1418-26. doi: 10.1002/humu.22693.

PMID:
25205138
[PubMed - in process]
5.

Targeted sequencing by proximity ligation for comprehensive variant detection and local haplotyping.

de Vree PJ, de Wit E, Yilmaz M, van de Heijning M, Klous P, Verstegen MJ, Wan Y, Teunissen H, Krijger PH, Geeven G, Eijk PP, Sie D, Ylstra B, Hulsman LO, van Dooren MF, van Zutven LJ, van den Ouweland A, Verbeek S, van Dijk KW, Cornelissen M, Das AT, Berkhout B, Sikkema-Raddatz B, van den Berg E, van der Vlies P, Weening D, den Dunnen JT, Matusiak M, Lamkanfi M, Ligtenberg MJ, Ter Brugge P, Jonkers J, Foekens JA, Martens JW, van der Luijt R, van Amstel HK, van Min M, Splinter E, de Laat W.

Nat Biotechnol. 2014 Oct;32(10):1019-25. doi: 10.1038/nbt.2959. Epub 2014 Aug 17.

PMID:
25129690
[PubMed - in process]
6.

Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect.

Romanelli Tavares VL, Gordon CT, Zechi-Ceide RM, Kokitsu-Nakata NM, Voisin N, Tan TY, Heggie AA, Vendramini-Pittoli S, Propst EJ, Papsin BC, Torres TT, Buermans H, Capelo LP, den Dunnen JT, Guion-Almeida ML, Lyonnet S, Amiel J, Passos-Bueno MR.

Eur J Hum Genet. 2014 Jul 16. doi: 10.1038/ejhg.2014.132. [Epub ahead of print]

PMID:
25026904
[PubMed - as supplied by publisher]
7.

Next generation sequencing technology: Advances and applications.

Buermans HP, den Dunnen JT.

Biochim Biophys Acta. 2014 Oct;1842(10):1932-1941. doi: 10.1016/j.bbadis.2014.06.015. Epub 2014 Jul 1. Review.

PMID:
24995601
[PubMed - as supplied by publisher]
8.

Efficient and sensitive identification and quantification of airborne pollen using next-generation DNA sequencing.

Kraaijeveld K, de Weger LA, Ventayol García M, Buermans H, Frank J, Hiemstra PS, den Dunnen JT.

Mol Ecol Resour. 2014 Jun 4. doi: 10.1111/1755-0998.12288. [Epub ahead of print]

PMID:
24893805
[PubMed - as supplied by publisher]
9.

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.

Blood Cells Mol Dis. 2014 Sep;53(3):133-7. doi: 10.1016/j.bcmd.2014.05.002. Epub 2014 May 28.

PMID:
24880717
[PubMed - in process]
10.

RNA sequencing: from tag-based profiling to resolving complete transcript structure.

de Klerk E, den Dunnen JT, 't Hoen PA.

Cell Mol Life Sci. 2014 Sep;71(18):3537-51. doi: 10.1007/s00018-014-1637-9. Epub 2014 May 15. Review.

PMID:
24827995
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Pathogenic: light or dark skin?

den Dunnen JT.

Hum Mutat. 2014 May;35(5):520. doi: 10.1002/humu.22543. Epub 2014 Apr 7.

PMID:
24610774
[PubMed - in process]
12.

Detecting authorized and unauthorized genetically modified organisms containing vip3A by real-time PCR and next-generation sequencing.

Liang C, van Dijk JP, Scholtens IM, Staats M, Prins TW, Voorhuijzen MM, da Silva AM, Arisi AC, den Dunnen JT, Kok EJ.

Anal Bioanal Chem. 2014 Apr;406(11):2603-11. doi: 10.1007/s00216-014-7667-1. Epub 2014 Feb 20.

PMID:
24553665
[PubMed - in process]
13.

TSSV: a tool for characterization of complex allelic variants in pure and mixed genomes.

Anvar SY, van der Gaag KJ, van der Heijden JW, Veltrop MH, Vossen RH, de Leeuw RH, Breukel C, Buermans HP, Verbeek JS, de Knijff P, den Dunnen JT, Laros JF.

Bioinformatics. 2014 Jun 15;30(12):1651-9. doi: 10.1093/bioinformatics/btu068. Epub 2014 Feb 13.

PMID:
24532718
[PubMed - indexed for MEDLINE]
14.

Preventing formation of toxic N-terminal huntingtin fragments through antisense oligonucleotide-mediated protein modification.

Evers MM, Tran HD, Zalachoras I, Meijer OC, den Dunnen JT, van Ommen GJ, Aartsma-Rus A, van Roon-Mom WM.

Nucleic Acid Ther. 2014 Feb;24(1):4-12. doi: 10.1089/nat.2013.0452. Epub 2013 Dec 31.

PMID:
24380395
[PubMed - indexed for MEDLINE]
15.

Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.

Thompson BA, Spurdle AB, Plazzer JP, Greenblatt MS, Akagi K, Al-Mulla F, Bapat B, Bernstein I, Capellá G, den Dunnen JT, du Sart D, Fabre A, Farrell MP, Farrington SM, Frayling IM, Frebourg T, Goldgar DE, Heinen CD, Holinski-Feder E, Kohonen-Corish M, Robinson KL, Leung SY, Martins A, Moller P, Morak M, Nystrom M, Peltomaki P, Pineda M, Qi M, Ramesar R, Rasmussen LJ, Royer-Pokora B, Scott RJ, Sijmons R, Tavtigian SV, Tops CM, Weber T, Wijnen J, Woods MO, Macrae F, Genuardi M; InSiGHT.

Nat Genet. 2014 Feb;46(2):107-15. doi: 10.1038/ng.2854. Epub 2013 Dec 22.

PMID:
24362816
[PubMed - indexed for MEDLINE]
16.

Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling.

Logan CV, Szabadkai G, Sharpe JA, Parry DA, Torelli S, Childs AM, Kriek M, Phadke R, Johnson CA, Roberts NY, Bonthron DT, Pysden KA, Whyte T, Munteanu I, Foley AR, Wheway G, Szymanska K, Natarajan S, Abdelhamed ZA, Morgan JE, Roper H, Santen GW, Niks EH, van der Pol WL, Lindhout D, Raffaello A, De Stefani D, den Dunnen JT, Sun Y, Ginjaar I, Sewry CA, Hurles M, Rizzuto R; UK10K Consortium, Duchen MR, Muntoni F, Sheridan E.

Nat Genet. 2014 Feb;46(2):188-93. doi: 10.1038/ng.2851. Epub 2013 Dec 15.

PMID:
24336167
[PubMed - indexed for MEDLINE]
17.

Comprehensive registration of DNA sequence variants associated with inherited retinal diseases in Leiden Open Variation Databases.

Cremers FP, den Dunnen JT, Ajmal M, Hussain A, Preising MN, Daiger SP, Qamar R.

Hum Mutat. 2014 Jan;35(1):147-8. No abstract available.

PMID:
24123322
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Reproducibility of high-throughput mRNA and small RNA sequencing across laboratories.

't Hoen PA, Friedländer MR, Almlöf J, Sammeth M, Pulyakhina I, Anvar SY, Laros JF, Buermans HP, Karlberg O, Brännvall M; GEUVADIS Consortium, den Dunnen JT, van Ommen GJ, Gut IG, Guigó R, Estivill X, Syvänen AC, Dermitzakis ET, Lappalainen T.

Nat Biotechnol. 2013 Nov;31(11):1015-22. doi: 10.1038/nbt.2702. Epub 2013 Sep 15.

PMID:
24037425
[PubMed - indexed for MEDLINE]
19.

DMD transcript imbalance determines dystrophin levels.

Spitali P, van den Bergen JC, Verhaart IE, Wokke B, Janson AA, van den Eijnde R, den Dunnen JT, Laros JF, Verschuuren JJ, 't Hoen PA, Aartsma-Rus A.

FASEB J. 2013 Dec;27(12):4909-16. doi: 10.1096/fj.13-232025. Epub 2013 Aug 23.

PMID:
23975932
[PubMed - indexed for MEDLINE]
20.

Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients.

Santen GW, Aten E, Vulto-van Silfhout AT, Pottinger C, van Bon BW, van Minderhout IJ, Snowdowne R, van der Lans CA, Boogaard M, Linssen MM, Vijfhuizen L, van der Wielen MJ, Vollebregt MJ; Coffin-Siris consortium, Breuning MH, Kriek M, van Haeringen A, den Dunnen JT, Hoischen A, Clayton-Smith J, de Vries BB, Hennekam RC, van Belzen MJ.

Hum Mutat. 2013 Nov;34(11):1519-28. doi: 10.1002/humu.22394. Epub 2013 Aug 30.

PMID:
23929686
[PubMed - indexed for MEDLINE]

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