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Items: 1 to 20 of 74

1.

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.

PMID:
27427983
2.

Heterozygous KIDINS220/ARMS nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesity.

Josifova DJ, Monroe GR, Tessadori F, de Graaff E, van der Zwaag B, Mehta SG; DDD Study, Harakalova M, Duran KJ, Savelberg SM, Nijman IJ, Jungbluth H, Hoogenraad CC, Bakkers J, Knoers NV, Firth HV, Beales PL, van Haaften G, van Haelst MM.

Hum Mol Genet. 2016 Mar 22. pii: ddw082. [Epub ahead of print]

PMID:
27005418
3.

De novo 14q24.2q24.3 microdeletion including IFT43 is associated with intellectual disability, skeletal anomalies, cardiac anomalies, and myopia.

Stokman MF, Oud MM, van Binsbergen E, Slaats GG, Nicolaou N, Renkema KY, Nijman IJ, Roepman R, Giles RH, Arts HH, Knoers NV, van Haelst MM.

Am J Med Genet A. 2016 Jun;170(6):1566-9. doi: 10.1002/ajmg.a.37598. Epub 2016 Feb 19.

PMID:
26892345
4.

Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability.

Monroe GR, Frederix GW, Savelberg SM, de Vries TI, Duran KJ, van der Smagt JJ, Terhal PA, van Hasselt PM, Kroes HY, Verhoeven-Duif NM, Nijman IJ, Carbo EC, van Gassen KL, Knoers NV, Hövels AM, van Haelst MM, Visser G, van Haaften G.

Genet Med. 2016 Feb 4. doi: 10.1038/gim.2015.200. [Epub ahead of print]

PMID:
26845106
5.

Mice lacking functional CD95-ligand display reduced proliferation of the intestinal epithelium without gross homeostatic alterations.

Trumpi K, Steller EJ, de Leng WW, Raats DA, Nijman IJ, Morsink FH, Borel Rinkes IH, Kranenburg O.

Med Mol Morphol. 2016 Jun;49(2):110-8. doi: 10.1007/s00795-015-0129-9. Epub 2015 Dec 23.

PMID:
26700225
6.

Prioritization and burden analysis of rare variants in 208 candidate genes suggest they do not play a major role in CAKUT.

Nicolaou N, Pulit SL, Nijman IJ, Monroe GR, Feitz WF, Schreuder MF, van Eerde AM, de Jong TP, Giltay JC, van der Zwaag B, Havenith MR, Zwakenberg S, van der Zanden LF, Poelmans G, Cornelissen EA, Lilien MR, Franke B, Roeleveld N, van Rooij IA, Cuppen E, Bongers EM, Giles RH, Knoers NV, Renkema KY.

Kidney Int. 2016 Feb;89(2):476-86.

PMID:
26489027
7.

A nonsense mutation in B3GALNT2 is concordant with hydrocephalus in Friesian horses.

Ducro BJ, Schurink A, Bastiaansen JW, Boegheim IJ, van Steenbeek FG, Vos-Loohuis M, Nijman IJ, Monroe GR, Hellinga I, Dibbits BW, Back W, Leegwater PA.

BMC Genomics. 2015 Oct 9;16:761. doi: 10.1186/s12864-015-1936-z.

8.

Loss-of-Function Mutations in the WNT Co-receptor LRP6 Cause Autosomal-Dominant Oligodontia.

Massink MP, Créton MA, Spanevello F, Fennis WM, Cune MS, Savelberg SM, Nijman IJ, Maurice MM, van den Boogaard MJ, van Haaften G.

Am J Hum Genet. 2015 Oct 1;97(4):621-6. doi: 10.1016/j.ajhg.2015.08.014. Epub 2015 Sep 17.

9.

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.

10.

Effective Therapeutic Intervention and Comprehensive Genetic Analysis of mTOR Signaling in PEComa: A Case Report.

Weeber F, Koudijs MJ, Hoogstraat M, Besselink NJ, VAN Lieshout S, Nijman IJ, Cuppen E, Offerhaus GJ, Voest EE.

Anticancer Res. 2015 Jun;35(6):3399-403.

PMID:
26026101
11.

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.

PMID:
25920555
12.

Familial Ehlers-Danlos syndrome with lethal arterial events caused by a mutation in COL5A1.

Monroe GR, Harakalova M, van der Crabben SN, Majoor-Krakauer D, Bertoli-Avella AM, Moll FL, Oranen BI, Dooijes D, Vink A, Knoers NV, Maugeri A, Pals G, Nijman IJ, van Haaften G, Baas AF.

Am J Med Genet A. 2015 Jun;167(6):1196-203. doi: 10.1002/ajmg.a.36997. Epub 2015 Apr 2.

PMID:
25845371
13.

Sambamba: fast processing of NGS alignment formats.

Tarasov A, Vilella AJ, Cuppen E, Nijman IJ, Prins P.

Bioinformatics. 2015 Jun 15;31(12):2032-4. doi: 10.1093/bioinformatics/btv098. Epub 2015 Feb 19.

14.

Genetic etiology of renal agenesis: fine mapping of Renag1 and identification of Kit as the candidate functional gene.

Samanas NB, Commers TW, Dennison KL, Harenda QE, Kurz SG, Lachel CM, Wavrin KL, Bowler M, Nijman IJ, Guryev V, Cuppen E, Hubner N, Sullivan R, Vezina CM, Shull JD.

PLoS One. 2015 Feb 18;10(2):e0118147. doi: 10.1371/journal.pone.0118147. eCollection 2015.

15.

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].

16.

Organoid models of human and mouse ductal pancreatic cancer.

Boj SF, Hwang CI, Baker LA, Chio II, Engle DD, Corbo V, Jager M, Ponz-Sarvise M, Tiriac H, Spector MS, Gracanin A, Oni T, Yu KH, van Boxtel R, Huch M, Rivera KD, Wilson JP, Feigin ME, Öhlund D, Handly-Santana A, Ardito-Abraham CM, Ludwig M, Elyada E, Alagesan B, Biffi G, Yordanov GN, Delcuze B, Creighton B, Wright K, Park Y, Morsink FH, Molenaar IQ, Borel Rinkes IH, Cuppen E, Hao Y, Jin Y, Nijman IJ, Iacobuzio-Donahue C, Leach SD, Pappin DJ, Hammell M, Klimstra DS, Basturk O, Hruban RH, Offerhaus GJ, Vries RG, Clevers H, Tuveson DA.

Cell. 2015 Jan 15;160(1-2):324-38. doi: 10.1016/j.cell.2014.12.021. Epub 2014 Dec 31.

17.

Simultaneous detection of clinically relevant mutations and amplifications for routine cancer pathology.

Hoogstraat M, Hinrichs JW, Besselink NJ, Radersma-van Loon JH, de Voijs CM, Peeters T, Nijman IJ, de Weger RA, Voest EE, Willems SM, Cuppen E, Koudijs MJ.

J Mol Diagn. 2015 Jan;17(1):10-8. doi: 10.1016/j.jmoldx.2014.09.004. Epub 2014 Oct 24.

PMID:
25445215
18.

Myeloid lineage-restricted somatic mosaicism of NLRP3 mutations in patients with variant Schnitzler syndrome.

de Koning HD, van Gijn ME, Stoffels M, Jongekrijg J, Zeeuwen PL, Elferink MG, Nijman IJ, Jansen PA, Neveling K, van der Meer JW, Schalkwijk J, Simon A.

J Allergy Clin Immunol. 2015 Feb;135(2):561-4. doi: 10.1016/j.jaci.2014.07.050. Epub 2014 Sep 16. No abstract available.

PMID:
25239704
19.

Characterization of a de novo SCN8A mutation in a patient with epileptic encephalopathy.

de Kovel CG, Meisler MH, Brilstra EH, van Berkestijn FM, van 't Slot R, van Lieshout S, Nijman IJ, O'Brien JE, Hammer MF, Estacion M, Waxman SG, Dib-Hajj SD, Koeleman BP.

Epilepsy Res. 2014 Nov;108(9):1511-8. doi: 10.1016/j.eplepsyres.2014.08.020. Epub 2014 Sep 4.

20.

Genome-wide survey indicates involvement of loci on canine chromosomes 7 and 31 in patellar luxation in Flat-Coated Retrievers.

Lavrijsen IC, Leegwater PA, Wangdee C, van Steenbeek FG, Schwencke M, Breur GJ, Meutstege FJ, Nijman IJ, Cuppen E, Heuven HC, Hazewinkel HA.

BMC Genet. 2014 May 28;15:64. doi: 10.1186/1471-2156-15-64.

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