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Items: 1 to 20 of 315

1.

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.

Hum Mutat. 2016 Jun;37(6):564-9. doi: 10.1002/humu.22981. Epub 2016 Mar 25.

PMID:
26931183
2.

HGVS Nomenclature in Practice: An Example from the United Kingdom National External Quality Assessment Scheme.

Deans ZC, Fairley JA, den Dunnen JT, Clark C.

Hum Mutat. 2016 Jun;37(6):576-8. doi: 10.1002/humu.22978. Epub 2016 Mar 18.

PMID:
26919400
3.

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.

PLoS One. 2016 Feb 26;11(2):e0149621. doi: 10.1371/journal.pone.0149621. eCollection 2016.

4.

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.

5.

A novel Fanconi anaemia subtype associated with a dominant-negative mutation in RAD51.

Ameziane N, May P, Haitjema A, van de Vrugt HJ, van Rossum-Fikkert SE, Ristic D, Williams GJ, Balk J, Rockx D, Li H, Rooimans MA, Oostra AB, Velleuer E, Dietrich R, Bleijerveld OB, Maarten Altelaar AF, Meijers-Heijboer H, Joenje H, Glusman G, Roach J, Hood L, Galas D, Wyman C, Balling R, den Dunnen J, de Winter JP, Kanaar R, Gelinas R, Dorsman JC.

Nat Commun. 2015 Dec 18;6:8829. doi: 10.1038/ncomms9829.

6.

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. Review.

PMID:
26479518
7.

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

Pulyakhina I, Gazzoli I, 't 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.

8.

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
9.

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
10.

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.

11.

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.

12.

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
13.

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.

14.

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

Pulyakhina I, Gazzoli I, 't Hoen PA, Verwey N, den Dunnen JT, Aartsma-Rus A, Laros JF.

Nucleic Acids Res. 2015 Jul 13;43(12):e80. doi: 10.1093/nar/gkv242. Epub 2015 Mar 23. Erratum in: Nucleic Acids Res. 2015 Dec 15;43(22):11068. den Dunnen, Johan [Corrected to den Dunnen, Johan T].

15.

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
16.

Control of cytokine production by human fc gamma receptors: implications for pathogen defense and autoimmunity.

Vogelpoel LT, Baeten DL, de Jong EC, den Dunnen J.

Front Immunol. 2015 Feb 24;6:79. doi: 10.3389/fimmu.2015.00079. eCollection 2015. Review.

17.

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.

18.

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, Lekanne Dit Deprez R, 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, Marjan Weiss J, van den Wijngaard A, van Workum W, Ijntema H, van der Zwaag B, van IJcken WF, den Dunnen J, Veltman JA, Hennekam R, Cuppen E.

Eur J Hum Genet. 2015 Sep;23(9):1142-50. doi: 10.1038/ejhg.2014.279. Epub 2015 Jan 28. Erratum in: Eur J Hum Genet. 2015 Sep;23(9):1270. Mook, Olaf R [added].

19.

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.

20.

Fc gamma receptor-TLR cross-talk elicits pro-inflammatory cytokine production by human M2 macrophages.

Vogelpoel LT, Hansen IS, Rispens T, Muller FJ, van Capel TM, Turina MC, Vos JB, Baeten DL, Kapsenberg ML, de Jong EC, den Dunnen J.

Nat Commun. 2014 Nov 13;5:5444. doi: 10.1038/ncomms6444.

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