Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 37

1.

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.

Hum Mutat. 2019 Dec;40(12):2230-2238. doi: 10.1002/humu.23896. Epub 2019 Sep 3.

PMID:
31433103
2.

Archival, paleopathological and aDNA-based techniques in leprosy research and the case of Father Petrus Donders at the Leprosarium 'Batavia', Suriname.

Van Dissel JT, Pieters T, Geluk A, Maat G, Menke HE, Tió-Coma M, Altena E, Laros JFJ, Adhin MR.

Int J Paleopathol. 2019 Dec;27:1-8. doi: 10.1016/j.ijpp.2019.08.001. Epub 2019 Aug 17.

3.

BacTag - a pipeline for fast and accurate gene and allele typing in bacterial sequencing data based on database preprocessing.

Khachatryan L, Kraakman MEM, Bernards AT, Laros JFJ.

BMC Genomics. 2019 May 6;20(1):338. doi: 10.1186/s12864-019-5723-0.

4.

Annotating Transcriptional Effects of Genetic Variants in Disease-Relevant Tissue: Transcriptome-Wide Allelic Imbalance in Osteoarthritic Cartilage.

den Hollander W, Pulyakhina I, Boer C, Bomer N, van der Breggen R, Arindrarto W, Couthino de Almeida R, Lakenberg N, Sentner T, Laros JFJ, 't Hoen PAC, Slagboom EPE, Nelissen RGHH, van Meurs J, Ramos YFM, Meulenbelt I.

Arthritis Rheumatol. 2019 Apr;71(4):561-570. doi: 10.1002/art.40748. Epub 2019 Feb 23.

5.

Short hypervariable microhaplotypes: A novel set of very short high discriminating power loci without stutter artefacts.

van der Gaag KJ, de Leeuw RH, Laros JFJ, den Dunnen JT, de Knijff P.

Forensic Sci Int Genet. 2018 Jul;35:169-175. doi: 10.1016/j.fsigen.2018.05.008. Epub 2018 May 22.

6.

Brain Transcriptomic Analysis of Hereditary Cerebral Hemorrhage With Amyloidosis-Dutch Type.

Grand Moursel L, van Roon-Mom WMC, Kiełbasa SM, Mei H, Buermans HPJ, van der Graaf LM, Hettne KM, de Meijer EJ, van Duinen SG, Laros JFJ, van Buchem MA, 't Hoen PAC, van der Maarel SM, van der Weerd L.

Front Aging Neurosci. 2018 Apr 13;10:102. doi: 10.3389/fnagi.2018.00102. eCollection 2018.

7.

Critical points for an accurate human genome analysis.

White SJ, Laros JFJ, Bakker E, Cambon-Thomsen A, Eden M, Leonard S, Lochmüller H, Matthijs G, Mattocks C, Patton S, Payne K, Scheffer H, Souche E, Thomassen E, Thompson R, Traeger-Synodinos J, Van Vooren S, Janssen B, den Dunnen JT.

Hum Mutat. 2017 Aug;38(8):912-921. doi: 10.1002/humu.23238. Epub 2017 Jun 16. Review.

PMID:
28471515
8.

FDSTools: A software package for analysis of massively parallel sequencing data with the ability to recognise and correct STR stutter and other PCR or sequencing noise.

Hoogenboom J, van der Gaag KJ, de Leeuw RH, Sijen T, de Knijff P, Laros JF.

Forensic Sci Int Genet. 2017 Mar;27:27-40. doi: 10.1016/j.fsigen.2016.11.007. Epub 2016 Nov 27.

9.

Massively parallel sequencing of short tandem repeats-Population data and mixture analysis results for the PowerSeq™ system.

van der Gaag KJ, de Leeuw RH, Hoogenboom J, Patel J, Storts DR, Laros JFJ, de Knijff P.

Forensic Sci Int Genet. 2016 Sep;24:86-96. doi: 10.1016/j.fsigen.2016.05.016. Epub 2016 Jun 7.

10.

Whole Gene Capture Analysis of 15 CRC Susceptibility Genes in Suspected Lynch Syndrome Patients.

Jansen AM, Geilenkirchen MA, van Wezel T, Jagmohan-Changur SC, Ruano D, van der Klift HM, van den Akker BE, Laros JF, van Galen M, Wagner A, Letteboer TG, Gómez-García EB, Tops CM, Vasen HF, Devilee P, Hes FJ, Morreau H, Wijnen JT.

PLoS One. 2016 Jun 14;11(6):e0157381. doi: 10.1371/journal.pone.0157381. eCollection 2016.

11.

Repeated FcεRI triggering reveals modified mast cell function related to chronic allergic responses in tissue.

Suurmond J, Habets KLL, Tatum Z, Schonkeren JJ, Hoen PAC', Huizinga TWJ, Laros JFJ, Toes REM, Kurreeman F.

J Allergy Clin Immunol. 2016 Sep;138(3):869-880. doi: 10.1016/j.jaci.2016.01.017. Epub 2016 Mar 28.

PMID:
27033170
12.

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.

13.

Transmission of human mtDNA heteroplasmy in the Genome of the Netherlands families: support for a variable-size bottleneck.

Li M, Rothwell R, Vermaat M, Wachsmuth M, Schröder R, Laros JF, van Oven M, de Bakker PI, Bovenberg JA, van Duijn CM, van Ommen GJ, Slagboom PE, Swertz MA, Wijmenga C; Genome of Netherlands Consortium, Kayser M, Boomsma DI, Zöllner S, de Knijff P, Stoneking M.

Genome Res. 2016 Apr;26(4):417-26. doi: 10.1101/gr.203216.115. Epub 2016 Feb 25.

14.

Non-sequential and multi-step splicing of the dystrophin transcript.

Gazzoli I, Pulyakhina I, Verwey NE, Ariyurek Y, Laros JF, 't Hoen PA, Aartsma-Rus A.

RNA Biol. 2016;13(3):290-305. doi: 10.1080/15476286.2015.1125074. Epub 2015 Dec 15.

15.

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.

16.

An efficient algorithm for the extraction of HGVS variant descriptions from sequences.

Vis JK, Vermaat M, Taschner PE, Kok JN, Laros JF.

Bioinformatics. 2015 Dec 1;31(23):3751-7. doi: 10.1093/bioinformatics/btv443. Epub 2015 Jul 31.

PMID:
26231427
17.

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].

18.

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.

19.

Roux-en-Y gastric bypass surgery, but not calorie restriction, reduces plasma branched-chain amino acids in obese women independent of weight loss or the presence of type 2 diabetes.

Lips MA, Van Klinken JB, van Harmelen V, Dharuri HK, 't Hoen PA, Laros JF, van Ommen GJ, Janssen IM, Van Ramshorst B, Van Wagensveld BA, Swank DJ, Van Dielen F, Dane A, Harms A, Vreeken R, Hankemeier T, Smit JW, Pijl H, Willems van Dijk K.

Diabetes Care. 2014 Dec;37(12):3150-6. doi: 10.2337/dc14-0195. Epub 2014 Oct 14.

PMID:
25315204
20.

Downregulation of the acetyl-CoA metabolic network in adipose tissue of obese diabetic individuals and recovery after weight loss.

Dharuri H, 't Hoen PA, van Klinken JB, Henneman P, Laros JF, Lips MA, El Bouazzaoui F, van Ommen GJ, Janssen I, van Ramshorst B, van Wagensveld BA, Pijl H, Willems van Dijk K, van Harmelen V.

Diabetologia. 2014 Nov;57(11):2384-92. doi: 10.1007/s00125-014-3347-0. Epub 2014 Aug 7.

PMID:
25099943
21.

Preserving sequence annotations across reference sequences.

Tatum Z, Roos M, Gibson AP, Taschner PE, Thompson M, Schultes EA, Laros JF.

J Biomed Semantics. 2014 Jun 3;5(Suppl 1 Proceedings of the Bio-Ontologies Spec Interest G):S6. doi: 10.1186/2041-1480-5-S1-S6. eCollection 2014.

22.

A promoter-level mammalian expression atlas.

FANTOM Consortium and the RIKEN PMI and CLST (DGT), Forrest AR, Kawaji H, Rehli M, Baillie JK, de Hoon MJ, Haberle V, Lassmann T, Kulakovskiy IV, Lizio M, Itoh M, Andersson R, Mungall CJ, Meehan TF, Schmeier S, Bertin N, Jørgensen M, Dimont E, Arner E, Schmidl C, Schaefer U, Medvedeva YA, Plessy C, Vitezic M, Severin J, Semple C, Ishizu Y, Young RS, Francescatto M, Alam I, Albanese D, Altschuler GM, Arakawa T, Archer JA, Arner P, Babina M, Rennie S, Balwierz PJ, Beckhouse AG, Pradhan-Bhatt S, Blake JA, Blumenthal A, Bodega B, Bonetti A, Briggs J, Brombacher F, Burroughs AM, Califano A, Cannistraci CV, Carbajo D, Chen Y, Chierici M, Ciani Y, Clevers HC, Dalla E, Davis CA, Detmar M, Diehl AD, Dohi T, Drabløs F, Edge AS, Edinger M, Ekwall K, Endoh M, Enomoto H, Fagiolini M, Fairbairn L, Fang H, Farach-Carson MC, Faulkner GJ, Favorov AV, Fisher ME, Frith MC, Fujita R, Fukuda S, Furlanello C, Furino M, Furusawa J, Geijtenbeek TB, Gibson AP, Gingeras T, Goldowitz D, Gough J, Guhl S, Guler R, Gustincich S, Ha TJ, Hamaguchi M, Hara M, Harbers M, Harshbarger J, Hasegawa A, Hasegawa Y, Hashimoto T, Herlyn M, Hitchens KJ, Ho Sui SJ, Hofmann OM, Hoof I, Hori F, Huminiecki L, Iida K, Ikawa T, Jankovic BR, Jia H, Joshi A, Jurman G, Kaczkowski B, Kai C, Kaida K, Kaiho A, Kajiyama K, Kanamori-Katayama M, Kasianov AS, Kasukawa T, Katayama S, Kato S, Kawaguchi S, Kawamoto H, Kawamura YI, Kawashima T, Kempfle JS, Kenna TJ, Kere J, Khachigian LM, Kitamura T, Klinken SP, Knox AJ, Kojima M, Kojima S, Kondo N, Koseki H, Koyasu S, Krampitz S, Kubosaki A, Kwon AT, Laros JF, Lee W, Lennartsson A, Li K, Lilje B, Lipovich L, Mackay-Sim A, Manabe R, Mar JC, Marchand B, Mathelier A, Mejhert N, Meynert A, Mizuno Y, de Lima Morais DA, Morikawa H, Morimoto M, Moro K, Motakis E, Motohashi H, Mummery CL, Murata M, Nagao-Sato S, Nakachi Y, Nakahara F, Nakamura T, Nakamura Y, Nakazato K, van Nimwegen E, Ninomiya N, Nishiyori H, Noma S, Noma S, Noazaki T, Ogishima S, Ohkura N, Ohimiya H, Ohno H, Ohshima M, Okada-Hatakeyama M, Okazaki Y, Orlando V, Ovchinnikov DA, Pain A, Passier R, Patrikakis M, Persson H, Piazza S, Prendergast JG, Rackham OJ, Ramilowski JA, Rashid M, Ravasi T, Rizzu P, Roncador M, Roy S, Rye MB, Saijyo E, Sajantila A, Saka A, Sakaguchi S, Sakai M, Sato H, Savvi S, Saxena A, Schneider C, Schultes EA, Schulze-Tanzil GG, Schwegmann A, Sengstag T, Sheng G, Shimoji H, Shimoni Y, Shin JW, Simon C, Sugiyama D, Sugiyama T, Suzuki M, Suzuki N, Swoboda RK, 't Hoen PA, Tagami M, Takahashi N, Takai J, Tanaka H, Tatsukawa H, Tatum Z, Thompson M, Toyodo H, Toyoda T, Valen E, van de Wetering M, van den Berg LM, Verado R, Vijayan D, Vorontsov IE, Wasserman WW, Watanabe S, Wells CA, Winteringham LN, Wolvetang E, Wood EJ, Yamaguchi Y, Yamamoto M, Yoneda M, Yonekura Y, Yoshida S, Zabierowski SE, Zhang PG, Zhao X, Zucchelli S, Summers KM, Suzuki H, Daub CO, Kawai J, Heutink P, Hide W, Freeman TC, Lenhard B, Bajic VB, Taylor MS, Makeev VJ, Sandelin A, Hume DA, Carninci P, Hayashizaki Y.

Nature. 2014 Mar 27;507(7493):462-70. doi: 10.1038/nature13182.

23.

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
24.

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
25.

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
26.

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
27.

Testing the difficulty theory of the SON-R 5(1/2)-17, a non-verbal test of intelligence.

Geerlings H, Laros JA, Tellegen PJ, Glas CA.

Br J Math Stat Psychol. 2014 May;67(2):248-65. doi: 10.1111/bmsp.12017. Epub 2013 Jun 18.

PMID:
23773035
28.

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.

29.

Exome sequencing of germline DNA from non-BRCA1/2 familial breast cancer cases selected on the basis of aCGH tumor profiling.

Hilbers FS, Meijers CM, Laros JF, van Galen M, Hoogerbrugge N, Vasen HF, Nederlof PM, Wijnen JT, van Asperen CJ, Devilee P.

PLoS One. 2013;8(1):e55734. doi: 10.1371/journal.pone.0055734. Epub 2013 Jan 31.

30.

Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement.

Sun Y, Bak B, Schoenmakers N, van Trotsenburg AS, Oostdijk W, Voshol P, Cambridge E, White JK, le Tissier P, Gharavy SN, Martinez-Barbera JP, Stokvis-Brantsma WH, Vulsma T, Kempers MJ, Persani L, Campi I, Bonomi M, Beck-Peccoz P, Zhu H, Davis TM, Hokken-Koelega AC, Del Blanco DG, Rangasami JJ, Ruivenkamp CA, Laros JF, Kriek M, Kant SG, Bosch CA, Biermasz NR, Appelman-Dijkstra NM, Corssmit EP, Hovens GC, Pereira AM, den Dunnen JT, Wade MG, Breuning MH, Hennekam RC, Chatterjee K, Dattani MT, Wit JM, Bernard DJ.

Nat Genet. 2012 Dec;44(12):1375-81. doi: 10.1038/ng.2453. Epub 2012 Nov 11.

31.

A formalized description of the standard human variant nomenclature in Extended Backus-Naur Form.

Laros JF, Blavier A, den Dunnen JT, Taschner PE.

BMC Bioinformatics. 2011;12 Suppl 4:S5. doi: 10.1186/1471-2105-12-S4-S5. Epub 2011 Jul 5.

32.

LOVD v.2.0: the next generation in gene variant databases.

Fokkema IF, Taschner PE, Schaafsma GC, Celli J, Laros JF, den Dunnen JT.

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

PMID:
21520333
33.

Tri-allelic SNP markers enable analysis of mixed and degraded DNA samples.

Westen AA, Matai AS, Laros JF, Meiland HC, Jasper M, de Leeuw WJ, de Knijff P, Sijen T.

Forensic Sci Int Genet. 2009 Sep;3(4):233-41. doi: 10.1016/j.fsigen.2009.02.003. Epub 2009 Mar 9.

PMID:
19647708
34.

Cyclotron resonant scattering in the spectra of gamma -ray bursts.

Wang JC, Lamb DQ, Loredo TJ, Wasserman IM, Salpeter EE, Fenimore EE, Conner JP, Epstein RI, Klebesadel RW, Laros JG, Murakami T, Nishimura J, Yoshida A, Kondo I I.

Phys Rev Lett. 1989 Oct 9;63(15):1550-1553. No abstract available.

PMID:
10040608
35.

Gamma-ray burst observations by pioneer venus orbiter.

Evans WD, Glore JP, Klebesadel RW, Laros JG, Tech ER, Spalding RE.

Science. 1979 Jul 6;205(4401):119-21.

PMID:
17778924
36.

Preliminary results from Solrad 11 gamma-burst detectors.

Laros JG, Evans WD, Klebesadel RW, Olson RA, Spalding RE.

Nature. 1977 May 12;267(5607):131-2.

PMID:
16073413
37.

Deriving outcome criteria from a conceptual model.

Laros J.

Nurs Outlook. 1977 May;25(5):333-6. No abstract available.

PMID:
585456

Supplemental Content

Support Center