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Items: 1 to 20 of 126

1.

ASH1L (a histone methyltransferase protein) is a novel candidate globin gene regulator revealed by genetic study of an English family with beta-thalassaemia unlinked to the beta-globin locus.

Breton A, Theodorou A, Aktuna S, Sonzogni L, Darling D, Chan L, Menzel S, van der Spek PJ, Swagemakers SM, Grosveld F, Philipsen S, Thein SL.

Br J Haematol. 2016 Jul 19. doi: 10.1111/bjh.14256. [Epub ahead of print]

PMID:
27434206
2.

Whole genome sequencing of a dizygotic twin suggests a role for the serotonin receptor HTR7 in autism spectrum disorder.

Helsmoortel C, Swagemakers SM, Vandeweyer G, Stubbs AP, Palli I, Mortier G, Kooy RF, van der Spek PJ.

Am J Med Genet B Neuropsychiatr Genet. 2016 Jul 6. doi: 10.1002/ajmg.b.32473. [Epub ahead of print]

PMID:
27380831
3.

ISOLATED VENTRICULAR NON-COMPACTION CARDIOMYOPATHY PRESENTING AS FETAL HYDROPS AT 24 WEEKS GESTATION: A GENOMIC ANALYSIS.

Armes JE, Squires L, Lourie R, Williams M, Gallagher R, Price G, Stubbs A, Swagemakers SM, van der Spek PJ, Harraway J, Thomas JT, Venter DJ.

Pediatr Dev Pathol. 2016 Jun 6. [Epub ahead of print]

PMID:
27268302
4.

Identification of Intragenic Exon Deletions and Duplication of TCF12 by Whole Genome or Targeted Sequencing as a Cause of TCF12-Related Craniosynostosis.

Goos JA, Fenwick AL, Swagemakers SM, McGowan SJ, Knight SJ, Twigg SR, Hoogeboom AJ, van Dooren MF, Magielsen FJ, Wall SA, Mathijssen IM, Wilkie AO, van der Spek PJ, van den Ouweland AM.

Hum Mutat. 2016 Aug;37(8):732-6. doi: 10.1002/humu.23010. Epub 2016 Jun 2.

5.

A 10-year follow-up of a child with mild case of xeroderma pigmentosum complementation group D diagnosed by whole-genome sequencing.

Ono R, Masaki T, Mayca Pozo F, Nakazawa Y, Swagemakers SM, Nakano E, Sakai W, Takeuchi S, Kanda F, Ogi T, van der Spek PJ, Sugasawa K, Nishigori C.

Photodermatol Photoimmunol Photomed. 2016 Jul;32(4):174-80. doi: 10.1111/phpp.12240. Epub 2016 Jun 30.

PMID:
26993158
6.

An International Ki67 Reproducibility Study in Adrenal Cortical Carcinoma.

Papathomas TG, Pucci E, Giordano TJ, Lu H, Duregon E, Volante M, Papotti M, Lloyd RV, Tischler AS, van Nederveen FH, Nose V, Erickson L, Mete O, Asa SL, Turchini J, Gill AJ, Matias-Guiu X, Skordilis K, Stephenson TJ, Tissier F, Feelders RA, Smid M, Nigg A, Korpershoek E, van der Spek PJ, Dinjens WN, Stubbs AP, de Krijger RR.

Am J Surg Pathol. 2016 Apr;40(4):569-76. doi: 10.1097/PAS.0000000000000574.

PMID:
26685085
7.

FuMa: reporting overlap in RNA-seq detected fusion genes.

Hoogstrate Y, Böttcher R, Hiltemann S, van der Spek PJ, Jenster G, Stubbs AP.

Bioinformatics. 2016 Apr 15;32(8):1226-8. doi: 10.1093/bioinformatics/btv721. Epub 2015 Dec 10.

PMID:
26656567
8.

Comparison of Mouse and Human Retinal Pigment Epithelium Gene Expression Profiles: Potential Implications for Age-Related Macular Degeneration.

Bennis A, Gorgels TG, Ten Brink JB, van der Spek PJ, Bossers K, Heine VM, Bergen AA.

PLoS One. 2015 Oct 30;10(10):e0141597. doi: 10.1371/journal.pone.0141597. eCollection 2015.

9.

Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability.

Twigg SR, Forecki J, Goos JA, Richardson IC, Hoogeboom AJ, van den Ouweland AM, Swagemakers SM, Lequin MH, Van Antwerp D, McGowan SJ, Westbury I, Miller KA, Wall SA; WGS500 Consortium, van der Spek PJ, Mathijssen IM, Pauws E, Merzdorf CS, Wilkie AO.

Am J Hum Genet. 2015 Sep 3;97(3):378-88. doi: 10.1016/j.ajhg.2015.07.007.

10.

Targeted inhibition of metastatic melanoma through interference with Pin1-FOXM1 signaling.

Kruiswijk F, Hasenfuss SC, Sivapatham R, Baar MP, Putavet D, Naipal KA, van den Broek NJ, Kruit W, van der Spek PJ, van Gent DC, Brenkman AB, Campisi J, Burgering BM, Hoeijmakers JH, de Keizer PL.

Oncogene. 2016 Apr 28;35(17):2166-77. doi: 10.1038/onc.2015.282. Epub 2015 Aug 17.

11.

ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons.

May M, Hwang KS, Miles J, Williams C, Niranjan T, Kahler SG, Chiurazzi P, Steindl K, Van Der Spek PJ, Swagemakers S, Mueller J, Stefl S, Alexov E, Ryu JI, Choi JH, Kim HT, Tarpey P, Neri G, Holloway L, Skinner C, Stevenson RE, Dorsky RI, Wang T, Schwartz CE, Kim CH.

Hum Mol Genet. 2015 Sep 1;24(17):4848-61. doi: 10.1093/hmg/ddv208. Epub 2015 Jun 8.

12.

Tumor-specific mutations in low-frequency genes affect their functional properties.

Erdem-Eraslan L, Heijsman D, de Wit M, Kremer A, Sacchetti A, van der Spek PJ, Sillevis Smitt PA, French PJ.

J Neurooncol. 2015 May;122(3):461-70. doi: 10.1007/s11060-015-1741-1. Epub 2015 Feb 19.

13.

Retinal pigment epithelial cells display specific transcriptional responses upon TNF-α stimulation.

Korthagen NM, van Bilsen K, Swagemakers SM, van de Peppel J, Bastiaans J, van der Spek PJ, van Hagen PM, Dik WA.

Br J Ophthalmol. 2015 May;99(5):700-4. doi: 10.1136/bjophthalmol-2014-306309. Epub 2015 Feb 13.

PMID:
25680620
14.

Pollitt syndrome patients carry mutation in TTDN1.

Swagemakers SM, Jaspers NG, Raams A, Heijsman D, Vermeulen W, Troelstra C, Kremer A, Lincoln SE, Tearle R, Hoeijmakers JH, van der Spek PJ.

Meta Gene. 2014 Aug 30;2:616-8. doi: 10.1016/j.mgene.2014.08.001. eCollection 2014 Dec.

15.

The Bcl-2 inhibitor Obatoclax overcomes resistance to histone deacetylase inhibitors SAHA and LBH589 as radiosensitizers in patient-derived glioblastoma stem-like cells.

Berghauser Pont LM, Spoor JK, Venkatesan S, Swagemakers S, Kloezeman JJ, Dirven CM, van der Spek PJ, Lamfers ML, Leenstra S.

Genes Cancer. 2014 Nov;5(11-12):445-59.

16.

ImmunoGlobulin galaxy (IGGalaxy) for simple determination and quantitation of immunoglobulin heavy chain rearrangements from NGS.

Moorhouse MJ, van Zessen D, IJspeert H, Hiltemann S, Horsman S, van der Spek PJ, van der Burg M, Stubbs AP.

BMC Immunol. 2014 Dec 13;15:59. doi: 10.1186/s12865-014-0059-7.

17.

A novel mutation in FGFR2.

Goos JA, van den Ouweland AM, Swagemakers SM, Verkerk AJ, Hoogeboom AJ, van Veelen ML, Mathijssen IM, van der Spek PJ.

Am J Med Genet A. 2015 Jan;167A(1):123-7. doi: 10.1002/ajmg.a.36827. Epub 2014 Nov 25.

PMID:
25425289
18.

Automated Selection of Hotspots (ASH): enhanced automated segmentation and adaptive step finding for Ki67 hotspot detection in adrenal cortical cancer.

Lu H, Papathomas TG, van Zessen D, Palli I, de Krijger RR, van der Spek PJ, Dinjens WN, Stubbs AP.

Diagn Pathol. 2014 Nov 25;9:216. doi: 10.1186/s13000-014-0216-6.

19.

First trimester trophoblast and placental bed vascular volume measurements in IVF or IVF/ICSI pregnancies.

Rifouna MS, Reus AD, Koning AH, van der Spek PJ, Exalto N, Steegers EA, Laven JS.

Hum Reprod. 2014 Dec;29(12):2644-9. doi: 10.1093/humrep/deu273. Epub 2014 Oct 21.

20.

Preoperative prediction of cosmetic results in breast conserving surgery.

Vos EL, Koning AH, Obdeijn IM, van Verschuer VM, Verhoef C, van der Spek PJ, Menke-Pluijmers MB, Koppert LB.

J Surg Oncol. 2015 Feb;111(2):178-84. doi: 10.1002/jso.23782. Epub 2014 Oct 20.

PMID:
25332158
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