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Page 1
De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila.
Lugtenberg D, Reijnders MR, Fenckova M, Bijlsma EK, Bernier R, van Bon BW, Smeets E, Vulto-van Silfhout AT, Bosch D, Eichler EE, Mefford HC, Carvill GL, Bongers EM, Schuurs-Hoeijmakers JH, Ruivenkamp CA, Santen GW, van den Maagdenberg AM, Peeters-Scholte CM, Kuenen S, Verstreken P, Pfundt R, Yntema HG, de Vries PF, Veltman JA, Hoischen A, Gilissen C, de Vries BB, Schenck A, Kleefstra T, Vissers LE. Lugtenberg D, et al. Among authors: hoischen a. Eur J Hum Genet. 2016 Aug;24(8):1145-53. doi: 10.1038/ejhg.2015.282. Epub 2016 Jan 13. Eur J Hum Genet. 2016. PMID: 26757981 Free PMC article.
Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture.
Vissers LE, Bhatt SS, Janssen IM, Xia Z, Lalani SR, Pfundt R, Derwinska K, de Vries BB, Gilissen C, Hoischen A, Nesteruk M, Wisniowiecka-Kowalnik B, Smyk M, Brunner HG, Cheung SW, van Kessel AG, Veltman JA, Stankiewicz P. Vissers LE, et al. Among authors: hoischen a. Hum Mol Genet. 2009 Oct 1;18(19):3579-93. doi: 10.1093/hmg/ddp306. Epub 2009 Jul 3. Hum Mol Genet. 2009. PMID: 19578123
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. 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: hoischen a. 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. 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: hoischen a. 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: hoischen a. 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: hoischen a. 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.
Intragenic deletion in DYRK1A leads to mental retardation and primary microcephaly.
van Bon BW, Hoischen A, Hehir-Kwa J, de Brouwer AP, Ruivenkamp C, Gijsbers AC, Marcelis CL, de Leeuw N, Veltman JA, Brunner HG, de Vries BB. van Bon BW, et al. Among authors: hoischen a. Clin Genet. 2011 Mar;79(3):296-9. doi: 10.1111/j.1399-0004.2010.01544.x. Clin Genet. 2011. PMID: 21294719 No abstract available.
250 results