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Items: 1 to 20 of 278

1.

The Complete Genome Sequence of the Murine Pathobiont Helicobacter typhlonius.

Frank J, Dingemanse C, Schmitz AM, Vossen RH, van Ommen GJ, den Dunnen JT, Robanus-Maandag EC, Anvar SY.

Front Microbiol. 2016 Jan 8;6:1549. doi: 10.3389/fmicb.2015.01549. eCollection 2015.

2.

Pharmacogenetic allele nomenclature: International workgroup recommendations for test result reporting.

Kalman LV, Agúndez J, Appell ML, Black JL, Bell GC, Boukouvala S, Bruckner C, Bruford E, Caudle K, Coulthard SA, Daly AK, Tredici AD, den Dunnen JT, Drozda K, Everts RE, Flockhart D, Freimuth RR, Gaedigk A, Hachad H, Hartshorne T, Ingelman-Sundberg M, Klein TE, Lauschke VM, Maglott DR, McLeod HL, McMillin GA, Meyer UA, Müller DJ, Nickerson DA, Oetting WS, Pacanowski M, Pratt VM, Relling MV, Roberts A, Rubinstein WS, Sangkuhl K, Schwab M, Scott SA, Sim SC, Thirumaran RK, Toji LH, Tyndale RF, van Schaik R, Whirl-Carrillo M, Yeo K, Zanger UM.

Clin Pharmacol Ther. 2016 Feb;99(2):172-85. doi: 10.1002/cpt.280. Epub 2015 Nov 20.

PMID:
26479518
3.

SplicePie: a novel analytical approach for the detection of alternative, non-sequential and recursive splicing.

Pulyakhina I, Gazzoli I, Hoen PA, Verwey N, den Dunnen JT, Aartsma-Rus A, Laros JF.

Nucleic Acids Res. 2015 Dec 15;43(22):11068. doi: 10.1093/nar/gkv1062. Epub 2015 Oct 7. No abstract available.

4.

Akkermansia muciniphila and Helicobacter typhlonius modulate intestinal tumor development in mice.

Dingemanse C, Belzer C, van Hijum SA, Günthel M, Salvatori D, den Dunnen JT, Kuijper EJ, Devilee P, de Vos WM, van Ommen GB, Robanus-Maandag EC.

Carcinogenesis. 2015 Nov;36(11):1388-96. doi: 10.1093/carcin/bgv120. Epub 2015 Aug 29.

PMID:
26320104
5.

The Matchmaker Exchange: a platform for rare disease gene discovery.

Philippakis AA, Azzariti DR, Beltran S, Brookes AJ, Brownstein CA, Brudno M, Brunner HG, Buske OJ, Carey K, Doll C, Dumitriu S, Dyke SO, den Dunnen JT, Firth HV, Gibbs RA, Girdea M, Gonzalez M, Haendel MA, Hamosh A, Holm IA, Huang L, Hurles ME, Hutton B, Krier JB, Misyura A, Mungall CJ, Paschall J, Paten B, Robinson PN, Schiettecatte F, Sobreira NL, Swaminathan GJ, Taschner PE, Terry SF, Washington NL, Züchner S, Boycott KM, Rehm HL.

Hum Mutat. 2015 Oct;36(10):915-21. doi: 10.1002/humu.22858.

PMID:
26295439
6.

Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects.

Vrijenhoek T, Kraaijeveld K, Elferink M, de Ligt J, Kranendonk E, Santen G, Nijman IJ, Butler D, Claes G, Costessi A, Dorlijn W, van Eyndhoven W, Halley DJ, van den Hout MC, van Hove S, Johansson LF, Jongbloed JD, Kamps R, Kockx CE, de Koning B, Kriek M, Deprez RL, Lunstroo H, Mannens M, Mook OR, Nelen M, Ploem C, Rijnen M, Saris JJ, Sinke R, Sistermans E, van Slegtenhorst M, Sleutels F, van der Stoep N, van Tienhoven M, Vermaat M, Vogel M, Waisfisz Q, Weiss JM, van den Wijngaard A, van Workum W, Ijntema H, van der Zwaag B, van IJcken WF, den Dunnen JT, Veltman JA, Hennekam R, Cuppen E.

Eur J Hum Genet. 2015 Sep;23(9):1270. doi: 10.1038/ejhg.2015.44. No abstract available.

7.

Collembolan Transcriptomes Highlight Molecular Evolution of Hexapods and Provide Clues on the Adaptation to Terrestrial Life.

Faddeeva A, Studer RA, Kraaijeveld K, Sie D, Ylstra B, Mariën J, op den Camp HJ, Datema E, den Dunnen JT, van Straalen NM, Roelofs D.

PLoS One. 2015 Jun 15;10(6):e0130600. doi: 10.1371/journal.pone.0130600. eCollection 2015.

8.

The DNA Bank: High-Security Bank Accounts to Protect and Share Your Genetic Identity.

den Dunnen JT.

Hum Mutat. 2015 Jul;36(7):657-9. doi: 10.1002/humu.22810.

PMID:
25952467
9.

Assessing the translational landscape of myogenic differentiation by ribosome profiling.

de Klerk E, Fokkema IF, Thiadens KA, Goeman JJ, Palmblad M, den Dunnen JT, von Lindern M, 't Hoen PA.

Nucleic Acids Res. 2015 May 19;43(9):4408-28. doi: 10.1093/nar/gkv281. Epub 2015 Apr 14.

10.

Next-generation diagnostics: gene panel, exome, or whole genome?

Sun Y, Ruivenkamp CA, Hoffer MJ, Vrijenhoek T, Kriek M, van Asperen CJ, den Dunnen JT, Santen GW.

Hum Mutat. 2015 Jun;36(6):648-55. doi: 10.1002/humu.22783. Epub 2015 Apr 17.

PMID:
25772376
11.

Huntington's disease biomarker progression profile identified by transcriptome sequencing in peripheral blood.

Mastrokolias A, Ariyurek Y, Goeman JJ, van Duijn E, Roos RA, van der Mast RC, van Ommen GB, den Dunnen JT, 't Hoen PA, van Roon-Mom WM.

Eur J Hum Genet. 2015 Oct;23(10):1349-56. doi: 10.1038/ejhg.2014.281. Epub 2015 Jan 28.

12.

Determining the quality and complexity of next-generation sequencing data without a reference genome.

Anvar SY, Khachatryan L, Vermaat M, van Galen M, Pulyakhina I, Ariyurek Y, Kraaijeveld K, den Dunnen JT, de Knijff P, 't Hoen PA, Laros JF.

Genome Biol. 2014;15(12):555.

13.

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. 2015 Nov;30(11):1893-901. doi: 10.1007/s00467-014-2994-1. Epub 2014 Nov 11.

PMID:
25384529
14.

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.

15.

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. 2015 Mar;36(3):429-34. doi: 10.1007/s10072-014-1971-6. Epub 2014 Oct 8.

16.

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.

17.

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
18.

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. 2015 Apr;23(4):481-5. doi: 10.1038/ejhg.2014.132. Epub 2014 Jul 16.

PMID:
25026904
19.

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.

20.

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. 2015 Jan;15(1):8-16. doi: 10.1111/1755-0998.12288. Epub 2014 Jun 17.

PMID:
24893805
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