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Results: 1 to 20 of 288

1.

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]
2.

Next generation sequencing technology: Advances and applications.

Buermans HP, den Dunnen JT.

Biochim Biophys Acta. 2014 Jul 1. pii: S0925-4439(14)00180-X. doi: 10.1016/j.bbadis.2014.06.015. [Epub ahead of print] Review.

PMID:
24995601
[PubMed - as supplied by publisher]
3.

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]
4.

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 May 28. pii: S1079-9796(14)00052-7. doi: 10.1016/j.bcmd.2014.05.002. [Epub ahead of print]

PMID:
24880717
[PubMed - as supplied by publisher]
5.

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 May 15. [Epub ahead of print]

PMID:
24827995
[PubMed - as supplied by publisher]
6.

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]
7.

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]
8.

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 - in process]
9.

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 - in process]
10.

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]
11.

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]
12.

Aging as accelerated accumulation of somatic variants: whole-genome sequencing of centenarian and middle-aged monozygotic twin pairs.

Ye K, Beekman M, Lameijer EW, Zhang Y, Moed MH, van den Akker EB, Deelen J, Houwing-Duistermaat JJ, Kremer D, Anvar SY, Laros JF, Jones D, Raine K, Blackburne B, Potluri S, Long Q, Guryev V, van der Breggen R, Westendorp RG, 't Hoen PA, den Dunnen J, van Ommen GJ, Willemsen G, Pitts SJ, Cox DR, Ning Z, Boomsma DI, Slagboom PE.

Twin Res Hum Genet. 2013 Dec;16(6):1026-32. doi: 10.1017/thg.2013.73. Epub 2013 Nov 4.

PMID:
24182360
[PubMed - indexed for MEDLINE]
13.

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 - in process]
14.

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 - in process]
15.

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]
16.

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]
17.

A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy.

de Brouwer AP, Nabuurs SB, Verhaart IE, Oudakker AR, Hordijk R, Yntema HG, Hordijk-Hos JM, Voesenek K, de Vries BB, van Essen T, Chen W, Hu H, Chelly J, den Dunnen JT, Kalscheuer VM, Aartsma-Rus AM, Hamel BC, van Bokhoven H, Kleefstra T.

Eur J Hum Genet. 2014 Apr;22(4):480-5. doi: 10.1038/ejhg.2013.169. Epub 2013 Jul 31.

PMID:
23900271
[PubMed - in process]
18.

DeepSAGE reveals genetic variants associated with alternative polyadenylation and expression of coding and non-coding transcripts.

Zhernakova DV, de Klerk E, Westra HJ, Mastrokolias A, Amini S, Ariyurek Y, Jansen R, Penninx BW, Hottenga JJ, Willemsen G, de Geus EJ, Boomsma DI, Veldink JH, van den Berg LH, Wijmenga C, den Dunnen JT, van Ommen GJ, 't Hoen PA, Franke L.

PLoS Genet. 2013 Jun;9(6):e1003594. doi: 10.1371/journal.pgen.1003594. Epub 2013 Jun 20. Erratum in: PLoS Genet. 2013 Sep;9(9). doi: 10.1371/annotation/296056cb-f80c-4b04-985b-180f6d3cc4ae.

PMID:
23818875
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

The Genome of the Netherlands: design, and project goals.

Boomsma DI, Wijmenga C, Slagboom EP, Swertz MA, Karssen LC, Abdellaoui A, Ye K, Guryev V, Vermaat M, van Dijk F, Francioli LC, Hottenga JJ, Laros JF, Li Q, Li Y, Cao H, Chen R, Du Y, Li N, Cao S, van Setten J, Menelaou A, Pulit SL, Hehir-Kwa JY, Beekman M, Elbers CC, Byelas H, de Craen AJ, Deelen P, Dijkstra M, den Dunnen JT, de Knijff P, Houwing-Duistermaat J, Koval V, Estrada K, Hofman A, Kanterakis A, Enckevort Dv, Mai H, Kattenberg M, van Leeuwen EM, Neerincx PB, Oostra B, Rivadeneira F, Suchiman EH, Uitterlinden AG, Willemsen G, Wolffenbuttel BH, Wang J, de Bakker PI, van Ommen GJ, van Duijn CM.

Eur J Hum Genet. 2014 Feb;22(2):221-7. doi: 10.1038/ejhg.2013.118. Epub 2013 May 29.

PMID:
23714750
[PubMed - in process]
Free PMC Article
20.

Ataxin-3 protein modification as a treatment strategy for spinocerebellar ataxia type 3: removal of the CAG containing exon.

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

Neurobiol Dis. 2013 Oct;58:49-56. doi: 10.1016/j.nbd.2013.04.019. Epub 2013 May 6.

PMID:
23659897
[PubMed - indexed for MEDLINE]
Free Article

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