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Items: 1 to 50 of 67

1.

Single-Molecule Sequencing: Towards Clinical Applications.

Ameur A, Kloosterman WP, Hestand MS.

Trends Biotechnol. 2019 Jan;37(1):72-85. doi: 10.1016/j.tibtech.2018.07.013. Epub 2018 Aug 13. Review.

PMID:
30115375
2.

From squiggle to basepair: computational approaches for improving nanopore sequencing read accuracy.

Rang FJ, Kloosterman WP, de Ridder J.

Genome Biol. 2018 Jul 13;19(1):90. doi: 10.1186/s13059-018-1462-9. Review.

3.

Enhancer hubs and loop collisions identified from single-allele topologies.

Allahyar A, Vermeulen C, Bouwman BAM, Krijger PHL, Verstegen MJAM, Geeven G, van Kranenburg M, Pieterse M, Straver R, Haarhuis JHI, Jalink K, Teunissen H, Renkens IJ, Kloosterman WP, Rowland BD, de Wit E, de Ridder J, de Laat W.

Nat Genet. 2018 Aug;50(8):1151-1160. doi: 10.1038/s41588-018-0161-5. Epub 2018 Jul 9.

PMID:
29988121
4.

Gene length corrected trimmed mean of M-values (GeTMM) processing of RNA-seq data performs similarly in intersample analyses while improving intrasample comparisons.

Smid M, Coebergh van den Braak RRJ, van de Werken HJG, van Riet J, van Galen A, de Weerd V, van der Vlugt-Daane M, Bril SI, Lalmahomed ZS, Kloosterman WP, Wilting SM, Foekens JA, IJzermans JNM; MATCH study group, Martens JWM, Sieuwerts AM.

BMC Bioinformatics. 2018 Jun 22;19(1):236. doi: 10.1186/s12859-018-2246-7.

5.

Confirmation of a metastasis-specific microRNA signature in primary colon cancer.

Coebergh van den Braak RRJ, Sieuwerts AM, Lalmahomed ZS, Smid M, Wilting SM, Bril SI, Xiang S, van der Vlugt-Daane M, de Weerd V, van Galen A, Biermann K, van Krieken JHJM, Kloosterman WP, Foekens JA; MATCH study group*, Martens JWM, IJzermans JNM.

Sci Rep. 2018 Mar 27;8(1):5242. doi: 10.1038/s41598-018-22532-1.

6.

The Genomic Characteristics and Origin of Chromothripsis.

Marcozzi A, Pellestor F, Kloosterman WP.

Methods Mol Biol. 2018;1769:3-19. doi: 10.1007/978-1-4939-7780-2_1. Review.

PMID:
29564814
7.

Mapping and phasing of structural variation in patient genomes using nanopore sequencing.

Cretu Stancu M, van Roosmalen MJ, Renkens I, Nieboer MM, Middelkamp S, de Ligt J, Pregno G, Giachino D, Mandrile G, Espejo Valle-Inclan J, Korzelius J, de Bruijn E, Cuppen E, Talkowski ME, Marschall T, de Ridder J, Kloosterman WP.

Nat Commun. 2017 Nov 6;8(1):1326. doi: 10.1038/s41467-017-01343-4.

8.

High mRNA expression of splice variant SYK short correlates with hepatic disease progression in chemonaive lymph node negative colon cancer patients.

Coebergh van den Braak RRJ, Sieuwerts AM, Kandimalla R, Lalmahomed ZS, Bril SI, van Galen A, Smid M, Biermann K, van Krieken JHJM, Kloosterman WP, Foekens JA, Goel A, Martens JWM, IJzermans JNM; MATCH study group.

PLoS One. 2017 Sep 28;12(9):e0185607. doi: 10.1371/journal.pone.0185607. eCollection 2017.

9.

Same-day genomic and epigenomic diagnosis of brain tumors using real-time nanopore sequencing.

Euskirchen P, Bielle F, Labreche K, Kloosterman WP, Rosenberg S, Daniau M, Schmitt C, Masliah-Planchon J, Bourdeaut F, Dehais C, Marie Y, Delattre JY, Idbaih A.

Acta Neuropathol. 2017 Nov;134(5):691-703. doi: 10.1007/s00401-017-1743-5. Epub 2017 Jun 21.

10.

A Systematic Analysis of Oncogenic Gene Fusions in Primary Colon Cancer.

Kloosterman WP, Coebergh van den Braak RRJ, Pieterse M, van Roosmalen MJ, Sieuwerts AM, Stangl C, Brunekreef R, Lalmahomed ZS, Ooft S, van Galen A, Smid M, Lefebvre A, Zwartkruis F, Martens JWM, Foekens JA, Biermann K, Koudijs MJ, Ijzermans JNM, Voest EE.

Cancer Res. 2017 Jul 15;77(14):3814-3822. doi: 10.1158/0008-5472.CAN-16-3563. Epub 2017 May 16.

11.

Ankyrin repeat and zinc-finger domain-containing 1 mutations are associated with infantile-onset inflammatory bowel disease.

van Haaften-Visser DY, Harakalova M, Mocholi E, van Montfrans JM, Elkadri A, Rieter E, Fiedler K, van Hasselt PM, Triffaux EMM, van Haelst MM, Nijman IJ, Kloosterman WP, Nieuwenhuis EES, Muise AM, Cuppen E, Houwen RHJ, Coffer PJ.

J Biol Chem. 2017 May 12;292(19):7904-7920. doi: 10.1074/jbc.M116.772038. Epub 2017 Mar 16.

12.

Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome.

Collins RL, Brand H, Redin CE, Hanscom C, Antolik C, Stone MR, Glessner JT, Mason T, Pregno G, Dorrani N, Mandrile G, Giachino D, Perrin D, Walsh C, Cipicchio M, Costello M, Stortchevoi A, An JY, Currall BB, Seabra CM, Ragavendran A, Margolin L, Martinez-Agosto JA, Lucente D, Levy B, Sanders SJ, Wapner RJ, Quintero-Rivera F, Kloosterman W, Talkowski ME.

Genome Biol. 2017 Mar 6;18(1):36. doi: 10.1186/s13059-017-1158-6.

13.

Molecular dissection of germline chromothripsis in a developmental context using patient-derived iPS cells.

Middelkamp S, van Heesch S, Braat AK, de Ligt J, van Iterson M, Simonis M, van Roosmalen MJ, Kelder MJ, Kruisselbrink E, Hochstenbach R, Verbeek NE, Ippel EF, Adolfs Y, Pasterkamp RJ, Kloosterman WP, Kuijk EW, Cuppen E.

Genome Med. 2017 Jan 26;9(1):9. doi: 10.1186/s13073-017-0399-z.

14.

A framework for the detection of de novo mutations in family-based sequencing data.

Francioli LC, Cretu-Stancu M, Garimella KV, Fromer M, Kloosterman WP; Genome of the Netherlands consortium, Samocha KE, Neale BM, Daly MJ, Banks E, DePristo MA, de Bakker PI.

Eur J Hum Genet. 2017 Feb;25(2):227-233. doi: 10.1038/ejhg.2016.147. Epub 2016 Nov 23.

15.

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.

Redin C, Brand H, Collins RL, Kammin T, Mitchell E, Hodge JC, Hanscom C, Pillalamarri V, Seabra CM, Abbott MA, Abdul-Rahman OA, Aberg E, Adley R, Alcaraz-Estrada SL, Alkuraya FS, An Y, Anderson MA, Antolik C, Anyane-Yeboa K, Atkin JF, Bartell T, Bernstein JA, Beyer E, Blumenthal I, Bongers EM, Brilstra EH, Brown CW, Brüggenwirth HT, Callewaert B, Chiang C, Corning K, Cox H, Cuppen E, Currall BB, Cushing T, David D, Deardorff MA, Dheedene A, D'Hooghe M, de Vries BB, Earl DL, Ferguson HL, Fisher H, FitzPatrick DR, Gerrol P, Giachino D, Glessner JT, Gliem T, Grady M, Graham BH, Griffis C, Gripp KW, Gropman AL, Hanson-Kahn A, Harris DJ, Hayden MA, Hill R, Hochstenbach R, Hoffman JD, Hopkin RJ, Hubshman MW, Innes AM, Irons M, Irving M, Jacobsen JC, Janssens S, Jewett T, Johnson JP, Jongmans MC, Kahler SG, Koolen DA, Korzelius J, Kroisel PM, Lacassie Y, Lawless W, Lemyre E, Leppig K, Levin AV, Li H, Li H, Liao EC, Lim C, Lose EJ, Lucente D, Macera MJ, Manavalan P, Mandrile G, Marcelis CL, Margolin L, Mason T, Masser-Frye D, McClellan MW, Mendoza CJ, Menten B, Middelkamp S, Mikami LR, Moe E, Mohammed S, Mononen T, Mortenson ME, Moya G, Nieuwint AW, Ordulu Z, Parkash S, Pauker SP, Pereira S, Perrin D, Phelan K, Aguilar RE, Poddighe PJ, Pregno G, Raskin S, Reis L, Rhead W, Rita D, Renkens I, Roelens F, Ruliera J, Rump P, Schilit SL, Shaheen R, Sparkes R, Spiegel E, Stevens B, Stone MR, Tagoe J, Thakuria JV, van Bon BW, van de Kamp J, van Der Burgt I, van Essen T, van Ravenswaaij-Arts CM, van Roosmalen MJ, Vergult S, Volker-Touw CM, Warburton DP, Waterman MJ, Wiley S, Wilson A, Yerena-de Vega MC, Zori RT, Levy B, Brunner HG, de Leeuw N, Kloosterman WP, Thorland EC, Morton CC, Gusella JF, Talkowski ME.

Nat Genet. 2017 Jan;49(1):36-45. doi: 10.1038/ng.3720. Epub 2016 Nov 14.

16.

A high-quality human reference panel reveals the complexity and distribution of genomic structural variants.

Hehir-Kwa JY, Marschall T, Kloosterman WP, Francioli LC, Baaijens JA, Dijkstra LJ, Abdellaoui A, Koval V, Thung DT, Wardenaar R, Renkens I, Coe BP, Deelen P, de Ligt J, Lameijer EW, van Dijk F, Hormozdiari F; Genome of the Netherlands Consortium, Uitterlinden AG, van Duijn CM, Eichler EE, de Bakker PI, Swertz MA, Wijmenga C, van Ommen GB, Slagboom PE, Boomsma DI, Schönhuth A, Ye K, Guryev V.

Nat Commun. 2016 Oct 6;7:12989. doi: 10.1038/ncomms12989.

17.

Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease.

van der Crabben SN, Hennus MP, McGregor GA, Ritter DI, Nagamani SC, Wells OS, Harakalova M, Chinn IK, Alt A, Vondrova L, Hochstenbach R, van Montfrans JM, Terheggen-Lagro SW, van Lieshout S, van Roosmalen MJ, Renkens I, Duran K, Nijman IJ, Kloosterman WP, Hennekam E, Orange JS, van Hasselt PM, Wheeler DA, Palecek JJ, Lehmann AR, Oliver AW, Pearl LH, Plon SE, Murray JM, van Haaften G.

J Clin Invest. 2016 Aug 1;126(8):2881-92. doi: 10.1172/JCI82890. Epub 2016 Jul 18.

18.

Mechanisms of Therapy Resistance in Patient-Derived Xenograft Models of BRCA1-Deficient Breast Cancer.

Ter Brugge P, Kristel P, van der Burg E, Boon U, de Maaker M, Lips E, Mulder L, de Ruiter J, Moutinho C, Gevensleben H, Marangoni E, Majewski I, Józwiak K, Kloosterman W, van Roosmalen M, Duran K, Hogervorst F, Turner N, Esteller M, Cuppen E, Wesseling J, Jonkers J.

J Natl Cancer Inst. 2016 Jul 5;108(11). doi: 10.1093/jnci/djw148. Print 2016 Nov.

PMID:
27381626
19.

The genomic characteristics and cellular origin of chromothripsis.

Storchová Z, Kloosterman WP.

Curr Opin Cell Biol. 2016 Jun;40:106-113. doi: 10.1016/j.ceb.2016.03.003. Epub 2016 Mar 26. Review.

PMID:
27023493
20.

Substrate requirements for let-7 function in the developing zebrafish embryo.

Kloosterman WP, Wienholds E, Ketting RF, Plasterk RH.

Nucleic Acids Res. 2016 Jul 8;44(12):5993. doi: 10.1093/nar/gkw173. Epub 2016 Mar 11. No abstract available.

21.

The presence of extra chromosomes leads to genomic instability.

Passerini V, Ozeri-Galai E, de Pagter MS, Donnelly N, Schmalbrock S, Kloosterman WP, Kerem B, Storchová Z.

Nat Commun. 2016 Feb 15;7:10754. doi: 10.1038/ncomms10754.

22.

Metabolic Engineering toward Sustainable Production of Nylon-6.

Turk SC, Kloosterman WP, Ninaber DK, Kolen KP, Knutova J, Suir E, Schürmann M, Raemakers-Franken PC, Müller M, de Wildeman SM, Raamsdonk LM, van der Pol R, Wu L, Temudo MF, van der Hoeven RA, Akeroyd M, van der Stoel RE, Noorman HJ, Bovenberg RA, Trefzer AC.

ACS Synth Biol. 2016 Jan 15;5(1):65-73. doi: 10.1021/acssynbio.5b00129. Epub 2015 Nov 11.

PMID:
26511532
23.

The Diverse Effects of Complex Chromosome Rearrangements and Chromothripsis in Cancer Development.

de Pagter MS, Kloosterman WP.

Recent Results Cancer Res. 2015;200:165-93. doi: 10.1007/978-3-319-20291-4_8. Review.

PMID:
26376877
24.

Chromosomal instability, tolerance of mitotic errors and multidrug resistance are promoted by tetraploidization in human cells.

Kuznetsova AY, Seget K, Moeller GK, de Pagter MS, de Roos JA, Dürrbaum M, Kuffer C, Müller S, Zaman GJ, Kloosterman WP, Storchová Z.

Cell Cycle. 2015;14(17):2810-20. doi: 10.1080/15384101.2015.1068482.

25.

GENETICS. Making heads or tails of shattered chromosomes.

Kloosterman WP.

Science. 2015 Jun 12;348(6240):1205-6. doi: 10.1126/science.aac5277. No abstract available.

PMID:
26068832
26.

Genome-wide patterns and properties of de novo mutations in humans.

Francioli LC, Polak PP, Koren A, Menelaou A, Chun S, Renkens I; Genome of the Netherlands Consortium, van Duijn CM, Swertz M, Wijmenga C, van Ommen G, Slagboom PE, Boomsma DI, Ye K, Guryev V, Arndt PF, Kloosterman WP, de Bakker PIW, Sunyaev SR.

Nat Genet. 2015 Jul;47(7):822-826. doi: 10.1038/ng.3292. Epub 2015 May 18.

27.

Joubert syndrome: genotyping a Northern European patient cohort.

Kroes HY, Monroe GR, van der Zwaag B, Duran KJ, de Kovel CG, van Roosmalen MJ, Harakalova M, Nijman IJ, Kloosterman WP, Giles RH, Knoers NV, van Haaften G.

Eur J Hum Genet. 2016 Feb;24(2):214-20. doi: 10.1038/ejhg.2015.84. Epub 2015 Apr 29.

28.

Clinical and molecular characterization of an infant with a tandem duplication and deletion of 19p13.

Tan RN, Witlox RS, Hilhorst-Hofstee Y, Peeters-Scholte CM, den Hollander NS, Ruivenkamp CA, Hoffer MJ, Hansson KB, van Roosmalen MJ, Kloosterman WP, Santen GW.

Am J Med Genet A. 2015 Aug;167A(8):1884-9. doi: 10.1002/ajmg.a.37076. Epub 2015 Apr 21.

PMID:
25900458
29.

Characteristics of de novo structural changes in the human genome.

Kloosterman WP, Francioli LC, Hormozdiari F, Marschall T, Hehir-Kwa JY, Abdellaoui A, Lameijer EW, Moed MH, Koval V, Renkens I, van Roosmalen MJ, Arp P, Karssen LC, Coe BP, Handsaker RE, Suchiman ED, Cuppen E, Thung DT, McVey M, Wendl MC; Genome of Netherlands Consortium, Uitterlinden A, van Duijn CM, Swertz MA, Wijmenga C, van Ommen GB, Slagboom PE, Boomsma DI, Schönhuth A, Eichler EE, de Bakker PI, Ye K, Guryev V.

Genome Res. 2015 Jun;25(6):792-801. doi: 10.1101/gr.185041.114. Epub 2015 Apr 16.

30.

Chromothripsis in healthy individuals affects multiple protein-coding genes and can result in severe congenital abnormalities in offspring.

de Pagter MS, van Roosmalen MJ, Baas AF, Renkens I, Duran KJ, van Binsbergen E, Tavakoli-Yaraki M, Hochstenbach R, van der Veken LT, Cuppen E, Kloosterman WP.

Am J Hum Genet. 2015 Apr 2;96(4):651-6. doi: 10.1016/j.ajhg.2015.02.005. Epub 2015 Mar 19.

31.

Deciphering the pathogenic consequences of chromosomal aberrations in human genetic disease.

Kloosterman WP, Hochstenbach R.

Mol Cytogenet. 2014 Dec 19;7(1):100. doi: 10.1186/s13039-014-0100-9. eCollection 2014.

32.

ViVar: a comprehensive platform for the analysis and visualization of structural genomic variation.

Sante T, Vergult S, Volders PJ, Kloosterman WP, Trooskens G, De Preter K, Dheedene A, Speleman F, De Meyer T, Menten B.

PLoS One. 2014 Dec 12;9(12):e113800. doi: 10.1371/journal.pone.0113800. eCollection 2014.

33.

Genomic and functional overlap between somatic and germline chromosomal rearrangements.

van Heesch S, Simonis M, van Roosmalen MJ, Pillalamarri V, Brand H, Kuijk EW, de Luca KL, Lansu N, Braat AK, Menelaou A, Hao W, Korving J, Snijder S, van der Veken LT, Hochstenbach R, Knegt AC, Duran K, Renkens I, Alekozai N, Jager M, Vergult S, Menten B, de Bruijn E, Boymans S, Ippel E, van Binsbergen E, Talkowski ME, Lichtenbelt K, Cuppen E, Kloosterman WP.

Cell Rep. 2014 Dec 24;9(6):2001-10. doi: 10.1016/j.celrep.2014.11.022. Epub 2014 Dec 11.

34.

Enzyme-catalyzed synthesis of saccharide acrylate monomers from nonedible biomass.

Kloosterman WM, Brouwer SG, Loos K.

Chem Asian J. 2014 Aug;9(8):2156-61. doi: 10.1002/asia.201402181. Epub 2014 May 27.

PMID:
24866837
35.

Biocatalytic synthesis of maltodextrin-based acrylates from starch and α-cyclodextrin.

Kloosterman WM, Spoelstra-van Dijk G, Loos K.

Macromol Biosci. 2014 Sep;14(9):1268-79. doi: 10.1002/mabi.201400091. Epub 2014 May 26.

PMID:
24863052
36.

Prevalence and clinical implications of chromothripsis in cancer genomes.

Kloosterman WP, Koster J, Molenaar JJ.

Curr Opin Oncol. 2014 Jan;26(1):64-72. doi: 10.1097/CCO.0000000000000038. Review.

PMID:
24305569
37.

Expanding the spectrum of phenotypes associated with germline PIGA mutations: a child with developmental delay, accelerated linear growth, facial dysmorphisms, elevated alkaline phosphatase, and progressive CNS abnormalities.

van der Crabben SN, Harakalova M, Brilstra EH, van Berkestijn FM, Hofstede FC, van Vught AJ, Cuppen E, Kloosterman W, Ploos van Amstel HK, van Haaften G, van Haelst MM.

Am J Med Genet A. 2014 Jan;164A(1):29-35. doi: 10.1002/ajmg.a.36184. Epub 2013 Nov 20. Review.

PMID:
24259184
38.

Genomic and transcriptomic plasticity in treatment-naive ovarian cancer.

Hoogstraat M, de Pagter MS, Cirkel GA, van Roosmalen MJ, Harkins TT, Duran K, Kreeftmeijer J, Renkens I, Witteveen PO, Lee CC, Nijman IJ, Guy T, van 't Slot R, Jonges TN, Lolkema MP, Koudijs MJ, Zweemer RP, Voest EE, Cuppen E, Kloosterman WP.

Genome Res. 2014 Feb;24(2):200-11. doi: 10.1101/gr.161026.113. Epub 2013 Nov 12.

39.

Mate pair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations.

Vergult S, Van Binsbergen E, Sante T, Nowak S, Vanakker O, Claes K, Poppe B, Van der Aa N, van Roosmalen MJ, Duran K, Tavakoli-Yaraki M, Swinkels M, van den Boogaard MJ, van Haelst M, Roelens F, Speleman F, Cuppen E, Mortier G, Kloosterman WP, Menten B.

Eur J Hum Genet. 2014 May;22(5):652-9. doi: 10.1038/ejhg.2013.220. Epub 2013 Oct 9.

40.

Improving mammalian genome scaffolding using large insert mate-pair next-generation sequencing.

van Heesch S, Kloosterman WP, Lansu N, Ruzius FP, Levandowsky E, Lee CC, Zhou S, Goldstein S, Schwartz DC, Harkins TT, Guryev V, Cuppen E.

BMC Genomics. 2013 Apr 16;14:257. doi: 10.1186/1471-2164-14-257.

41.

MEFV mutations affecting pyrin amino acid 577 cause autosomal dominant autoinflammatory disease.

Stoffels M, Szperl A, Simon A, Netea MG, Plantinga TS, van Deuren M, Kamphuis S, Lachmann HJ, Cuppen E, Kloosterman WP, Frenkel J, van Diemen CC, Wijmenga C, van Gijn M, van der Meer JW.

Ann Rheum Dis. 2014 Feb;73(2):455-61. doi: 10.1136/annrheumdis-2012-202580. Epub 2013 Mar 16.

PMID:
23505238
42.

Chromothripsis in congenital disorders and cancer: similarities and differences.

Kloosterman WP, Cuppen E.

Curr Opin Cell Biol. 2013 Jun;25(3):341-8. doi: 10.1016/j.ceb.2013.02.008. Epub 2013 Mar 13. Review.

PMID:
23478216
43.

X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face.

Harakalova M, van den Boogaard MJ, Sinke R, van Lieshout S, van Tuil MC, Duran K, Renkens I, Terhal PA, de Kovel C, Nijman IJ, van Haelst M, Knoers NV, van Haaften G, Kloosterman W, Hennekam RC, Cuppen E, Ploos van Amstel HK.

J Med Genet. 2012 Aug;49(8):539-43. doi: 10.1136/jmedgenet-2012-100921.

PMID:
22889856
44.

Constitutional chromothripsis rearrangements involve clustered double-stranded DNA breaks and nonhomologous repair mechanisms.

Kloosterman WP, Tavakoli-Yaraki M, van Roosmalen MJ, van Binsbergen E, Renkens I, Duran K, Ballarati L, Vergult S, Giardino D, Hansson K, Ruivenkamp CA, Jager M, van Haeringen A, Ippel EF, Haaf T, Passarge E, Hochstenbach R, Menten B, Larizza L, Guryev V, Poot M, Cuppen E.

Cell Rep. 2012 Jun 28;1(6):648-55. doi: 10.1016/j.celrep.2012.05.009. Epub 2012 Jun 15.

45.

Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness.

Wortmann SB, Vaz FM, Gardeitchik T, Vissers LE, Renkema GH, Schuurs-Hoeijmakers JH, Kulik W, Lammens M, Christin C, Kluijtmans LA, Rodenburg RJ, Nijtmans LG, Grünewald A, Klein C, Gerhold JM, Kozicz T, van Hasselt PM, Harakalova M, Kloosterman W, Barić I, Pronicka E, Ucar SK, Naess K, Singhal KK, Krumina Z, Gilissen C, van Bokhoven H, Veltman JA, Smeitink JA, Lefeber DJ, Spelbrink JN, Wevers RA, Morava E, de Brouwer AP.

Nat Genet. 2012 Jun 10;44(7):797-802. doi: 10.1038/ng.2325.

PMID:
22683713
46.

Dominant missense mutations in ABCC9 cause Cantú syndrome.

Harakalova M, van Harssel JJ, Terhal PA, van Lieshout S, Duran K, Renkens I, Amor DJ, Wilson LC, Kirk EP, Turner CL, Shears D, Garcia-Minaur S, Lees MM, Ross A, Venselaar H, Vriend G, Takanari H, Rook MB, van der Heyden MA, Asselbergs FW, Breur HM, Swinkels ME, Scurr IJ, Smithson SF, Knoers NV, van der Smagt JJ, Nijman IJ, Kloosterman WP, van Haelst MM, van Haaften G, Cuppen E.

Nat Genet. 2012 May 18;44(7):793-6. doi: 10.1038/ng.2324.

PMID:
22610116
47.

Elucidation of a novel pathogenomic mechanism using genome-wide long mate-pair sequencing of a congenital t(16;21) in a series of three RUNX1-mutated FPD/AML pedigrees.

Buijs A, Poot M, van der Crabben S, van der Zwaag B, van Binsbergen E, van Roosmalen MJ, Tavakoli-Yaraki M, de Weerdt O, Nieuwenhuis HK, van Gijn M, Kloosterman WP.

Leukemia. 2012 Sep;26(9):2151-4. doi: 10.1038/leu.2012.79. Epub 2012 Mar 20. No abstract available.

PMID:
22430633
48.

Discovery of variants unmasked by hemizygous deletions.

Hochstenbach R, Poot M, Nijman IJ, Renkens I, Duran KJ, Van't Slot R, van Binsbergen E, van der Zwaag B, Vogel MJ, Terhal PA, Ploos van Amstel HK, Kloosterman WP, Cuppen E.

Eur J Hum Genet. 2012 Jul;20(7):748-53. doi: 10.1038/ejhg.2011.263. Epub 2012 Jan 18.

49.

Limited contribution of NR5A1 (SF-1) mutations in women with primary ovarian insufficiency (POI).

Janse F, de With LM, Duran KJ, Kloosterman WP, Goverde AJ, Lambalk CB, Laven JS, Fauser BC, Giltay JC; Dutch Primary Ovarian Insufficiency Consortium.

Fertil Steril. 2012 Jan;97(1):141-6.e2. doi: 10.1016/j.fertnstert.2011.10.032. Epub 2011 Nov 17.

PMID:
22100173
50.

Multiplexed array-based and in-solution genomic enrichment for flexible and cost-effective targeted next-generation sequencing.

Harakalova M, Mokry M, Hrdlickova B, Renkens I, Duran K, van Roekel H, Lansu N, van Roosmalen M, de Bruijn E, Nijman IJ, Kloosterman WP, Cuppen E.

Nat Protoc. 2011 Nov 3;6(12):1870-86. doi: 10.1038/nprot.2011.396.

PMID:
22051800

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