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Page 1
Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies.
Arts P, Simons A, AlZahrani MS, Yilmaz E, AlIdrissi E, van Aerde KJ, Alenezi N, AlGhamdi HA, AlJubab HA, Al-Hussaini AA, AlManjomi F, Alsaad AB, Alsaleem B, Andijani AA, Asery A, Ballourah W, Bleeker-Rovers CP, van Deuren M, van der Flier M, Gerkes EH, Gilissen C, Habazi MK, Hehir-Kwa JY, Henriet SS, Hoppenreijs EP, Hortillosa S, Kerkhofs CH, Keski-Filppula R, Lelieveld SH, Lone K, MacKenzie MA, Mensenkamp AR, Moilanen J, Nelen M, Ten Oever J, Potjewijd J, van Paassen P, Schuurs-Hoeijmakers JHM, Simon A, Stokowy T, van de Vorst M, Vreeburg M, Wagner A, van Well GTJ, Zafeiropoulou D, Zonneveld-Huijssoon E, Veltman JA, van Zelst-Stams WAG, Faqeih EA, van de Veerdonk FL, Netea MG, Hoischen A. Arts P, et al. Genome Med. 2019 Jun 17;11(1):38. doi: 10.1186/s13073-019-0649-3. Genome Med. 2019. PMID: 31203817 Free PMC article.
Massively parallel sequencing of ataxia genes after array-based enrichment.
Hoischen A, Gilissen C, Arts P, Wieskamp N, van der Vliet W, Vermeer S, Steehouwer M, de Vries P, Meijer R, Seiqueros J, Knoers NV, Buckley MF, Scheffer H, Veltman JA. Hoischen A, et al. Among authors: arts p. Hum Mutat. 2010 Apr;31(4):494-9. doi: 10.1002/humu.21221. Hum Mutat. 2010. PMID: 20151403
Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy.
Nikopoulos K, Gilissen C, Hoischen A, van Nouhuys CE, Boonstra FN, Blokland EA, Arts P, Wieskamp N, Strom TM, Ayuso C, Tilanus MA, Bouwhuis S, Mukhopadhyay A, Scheffer H, Hoefsloot LH, Veltman JA, Cremers FP, Collin RW. Nikopoulos K, et al. Among authors: arts p. Am J Hum Genet. 2010 Feb 12;86(2):240-7. doi: 10.1016/j.ajhg.2009.12.016. Am J Hum Genet. 2010. PMID: 20159111 Free PMC article.
De novo mutations of SETBP1 cause Schinzel-Giedion syndrome.
Hoischen A, van Bon BW, Gilissen C, Arts P, van Lier B, Steehouwer M, de Vries P, de Reuver R, Wieskamp N, Mortier G, Devriendt K, Amorim MZ, Revencu N, Kidd A, Barbosa M, Turner A, Smith J, Oley C, Henderson A, Hayes IM, Thompson EM, Brunner HG, de Vries BB, Veltman JA. Hoischen A, et al. Among authors: arts p. Nat Genet. 2010 Jun;42(6):483-5. doi: 10.1038/ng.581. Epub 2010 May 2. Nat Genet. 2010. PMID: 20436468
Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome.
Gilissen C, Arts HH, Hoischen A, Spruijt L, Mans DA, Arts P, van Lier B, Steehouwer M, van Reeuwijk J, Kant SG, Roepman R, Knoers NV, Veltman JA, Brunner HG. Gilissen C, et al. Among authors: arts p, arts hh. Am J Hum Genet. 2010 Sep 10;87(3):418-23. doi: 10.1016/j.ajhg.2010.08.004. Am J Hum Genet. 2010. PMID: 20817137 Free PMC article.
A de novo paradigm for mental retardation.
Vissers LE, de Ligt J, Gilissen C, Janssen I, Steehouwer M, de Vries P, van Lier B, Arts P, Wieskamp N, del Rosario M, van Bon BW, Hoischen A, de Vries BB, Brunner HG, Veltman JA. Vissers LE, et al. Among authors: arts p. Nat Genet. 2010 Dec;42(12):1109-12. doi: 10.1038/ng.712. Epub 2010 Nov 14. Nat Genet. 2010. PMID: 21076407
Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia.
Vermeer S, Hoischen A, Meijer RP, Gilissen C, Neveling K, Wieskamp N, de Brouwer A, Koenig M, Anheim M, Assoum M, Drouot N, Todorovic S, Milic-Rasic V, Lochmüller H, Stevanin G, Goizet C, David A, Durr A, Brice A, Kremer B, van de Warrenburg BP, Schijvenaars MM, Heister A, Kwint M, Arts P, van der Wijst J, Veltman J, Kamsteeg EJ, Scheffer H, Knoers N. Vermeer S, et al. Among authors: arts p. Am J Hum Genet. 2010 Dec 10;87(6):813-9. doi: 10.1016/j.ajhg.2010.10.015. Epub 2010 Nov 18. Am J Hum Genet. 2010. PMID: 21092923 Free PMC article.
STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis.
van de Veerdonk FL, Plantinga TS, Hoischen A, Smeekens SP, Joosten LA, Gilissen C, Arts P, Rosentul DC, Carmichael AJ, Smits-van der Graaf CA, Kullberg BJ, van der Meer JW, Lilic D, Veltman JA, Netea MG. van de Veerdonk FL, et al. Among authors: arts p. N Engl J Med. 2011 Jul 7;365(1):54-61. doi: 10.1056/NEJMoa1100102. Epub 2011 Jun 29. N Engl J Med. 2011. PMID: 21714643 Free article.
Functional genomics identifies type I interferon pathway as central for host defense against Candida albicans.
Smeekens SP, Ng A, Kumar V, Johnson MD, Plantinga TS, van Diemen C, Arts P, Verwiel ET, Gresnigt MS, Fransen K, van Sommeren S, Oosting M, Cheng SC, Joosten LA, Hoischen A, Kullberg BJ, Scott WK, Perfect JR, van der Meer JW, Wijmenga C, Netea MG, Xavier RJ. Smeekens SP, et al. Among authors: arts p. Nat Commun. 2013;4:1342. doi: 10.1038/ncomms2343. Nat Commun. 2013. PMID: 23299892 Free PMC article.
Human TLR10 is an anti-inflammatory pattern-recognition receptor.
Oosting M, Cheng SC, Bolscher JM, Vestering-Stenger R, Plantinga TS, Verschueren IC, Arts P, Garritsen A, van Eenennaam H, Sturm P, Kullberg BJ, Hoischen A, Adema GJ, van der Meer JW, Netea MG, Joosten LA. Oosting M, et al. Among authors: arts p. Proc Natl Acad Sci U S A. 2014 Oct 21;111(42):E4478-84. doi: 10.1073/pnas.1410293111. Epub 2014 Oct 6. Proc Natl Acad Sci U S A. 2014. PMID: 25288745 Free PMC article.
64 results