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Page 1
Paroxysmal exercise-induced dystonia within the phenotypic spectrum of ECHS1 deficiency.
Olgiati S, Skorvanek M, Quadri M, Minneboo M, Graafland J, Breedveld GJ, Bonte R, Ozgur Z, van den Hout MC, Schoonderwoerd K, Verheijen FW, van IJcken WF, Chien HF, Barbosa ER, Chang HC, Lai SC, Yeh TH, Lu CS, Wu-Chou YH, Kievit AJ, Han V, Gdovinova Z, Jech R, Hofstra RM, Ruijter GJ, Mandemakers W, Bonifati V. Olgiati S, et al. Among authors: van den hout mc, van ijcken wf. Mov Disord. 2016 Jul;31(7):1041-8. doi: 10.1002/mds.26610. Epub 2016 Apr 19. Mov Disord. 2016. PMID: 27090768
NARWHAL, a primary analysis pipeline for NGS data.
Brouwer RW, van den Hout MC, Grosveld FG, van Ijcken WF. Brouwer RW, et al. Among authors: van den hout mc, van ijcken wf. Bioinformatics. 2012 Jan 15;28(2):284-5. doi: 10.1093/bioinformatics/btr613. Epub 2011 Nov 8. Bioinformatics. 2012. PMID: 22072383
Next generation sequencing of SNPs for non-invasive prenatal diagnosis: challenges and feasibility as illustrated by an application to β-thalassaemia.
Papasavva T, van Ijcken WF, Kockx CE, van den Hout MC, Kountouris P, Kythreotis L, Kalogirou E, Grosveld FG, Kleanthous M. Papasavva T, et al. Among authors: van den hout mc, van ijcken wf. Eur J Hum Genet. 2013 Dec;21(12):1403-10. doi: 10.1038/ejhg.2013.47. Epub 2013 Apr 10. Eur J Hum Genet. 2013. PMID: 23572027 Free PMC article.
The dystrophin gene and cognitive function in the general population.
Vojinovic D, Adams HH, van der Lee SJ, Ibrahim-Verbaas CA, Brouwer R, van den Hout MC, Oole E, van Rooij J, Uitterlinden A, Hofman A, van IJcken WF, Aartsma-Rus A, van Ommen GB, Ikram MA, van Duijn CM, Amin N. Vojinovic D, et al. Among authors: van duijn cm, van den hout mc, van ommen gb, van der lee sj, van ijcken wf, van rooij j. Eur J Hum Genet. 2015 Jun;23(6):837-43. doi: 10.1038/ejhg.2014.183. Epub 2014 Sep 17. Eur J Hum Genet. 2015. PMID: 25227141 Free PMC article.
Deciphering the RNA landscape by RNAome sequencing.
Derks KW, Misovic B, van den Hout MC, Kockx CE, Gomez CP, Brouwer RW, Vrieling H, Hoeijmakers JH, van IJcken WF, Pothof J. Derks KW, et al. Among authors: van den hout mc, van ijcken wf. RNA Biol. 2015;12(1):30-42. doi: 10.1080/15476286.2015.1017202. RNA Biol. 2015. PMID: 25826412 Free PMC article.
Nonsynonymous Variation in NKPD1 Increases Depressive Symptoms in European Populations.
Amin N, Belonogova NM, Jovanova O, Brouwer RW, van Rooij JG, van den Hout MC, Svishcheva GR, Kraaij R, Zorkoltseva IV, Kirichenko AV, Hofman A, Uitterlinden AG, van IJcken WF, Tiemeier H, Axenovich TI, van Duijn CM. Amin N, et al. Among authors: van duijn cm, van den hout mc, van rooij jg, van ijcken wf. Biol Psychiatry. 2017 Apr 15;81(8):702-707. doi: 10.1016/j.biopsych.2016.08.008. Epub 2016 Aug 11. Biol Psychiatry. 2017. PMID: 27745872
Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes.
Gui H, Schriemer D, Cheng WW, Chauhan RK, Antiňolo G, Berrios C, Bleda M, Brooks AS, Brouwer RW, Burns AJ, Cherny SS, Dopazo J, Eggen BJ, Griseri P, Jalloh B, Le TL, Lui VC, Luzón-Toro B, Matera I, Ngan ES, Pelet A, Ruiz-Ferrer M, Sham PC, Shepherd IT, So MT, Sribudiani Y, Tang CS, van den Hout MC, van der Linde HC, van Ham TJ, van IJcken WF, Verheij JB, Amiel J, Borrego S, Ceccherini I, Chakravarti A, Lyonnet S, Tam PK, Garcia-Barceló MM, Hofstra RM. Gui H, et al. Among authors: van den hout mc, van der linde hc, van ijcken wf, van ham tj. Genome Biol. 2017 Mar 8;18(1):48. doi: 10.1186/s13059-017-1174-6. Genome Biol. 2017. PMID: 28274275 Free PMC article.
A rare missense variant in RCL1 segregates with depression in extended families.
Amin N, de Vrij FMS, Baghdadi M, Brouwer RWW, van Rooij JGJ, Jovanova O, Uitterlinden AG, Hofman A, Janssen HLA, Darwish Murad S, Kraaij R, Stedehouder J, van den Hout MCGN, Kros JM, van IJcken WFJ, Tiemeier H, Kushner SA, van Duijn CM. Amin N, et al. Mol Psychiatry. 2018 May;23(5):1120-1126. doi: 10.1038/mp.2017.49. Epub 2017 Mar 21. Mol Psychiatry. 2018. PMID: 28322274 Free PMC article.
32 results