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Items: 5

1.

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 Dec;171(8):1049-1056. doi: 10.1002/ajmg.b.32473. Epub 2016 Jul 6.

PMID:
27380831
2.

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.

3.

CGtag: complete genomics toolkit and annotation in a cloud-based Galaxy.

Hiltemann S, Mei H, de Hollander M, Palli I, van der Spek P, Jenster G, Stubbs A.

Gigascience. 2014 Jan 24;3(1):1. doi: 10.1186/2047-217X-3-1.

4.

iFUSE: integrated fusion gene explorer.

Hiltemann S, McClellan EA, van Nijnatten J, Horsman S, Palli I, Teles Alves I, Hartjes T, Trapman J, van der Spek P, Jenster G, Stubbs A.

Bioinformatics. 2013 Jul 1;29(13):1700-1. doi: 10.1093/bioinformatics/btt252. Epub 2013 May 9.

PMID:
23661695
5.

Huvariome: a web server resource of whole genome next-generation sequencing allelic frequencies to aid in pathological candidate gene selection.

Stubbs A, McClellan EA, Horsman S, Hiltemann SD, Palli I, Nouwens S, Koning AH, Hoogland F, Reumers J, Heijsman D, Swagemakers S, Kremer A, Meijerink J, Lambrechts D, van der Spek PJ.

J Clin Bioinforma. 2012 Nov 19;2(1):19. doi: 10.1186/2043-9113-2-19.

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