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Definition of a critical region on chromosome 18 for congenital aural atresia by arrayCGH.
Veltman JA, Jonkers Y, Nuijten I, Janssen I, van der Vliet W, Huys E, Vermeesch J, Van Buggenhout G, Fryns JP, Admiraal R, Terhal P, Lacombe D, van Kessel AG, Smeets D, Schoenmakers EF, van Ravenswaaij-Arts CM. Veltman JA, et al. Among authors: janssen i. Am J Hum Genet. 2003 Jun;72(6):1578-84. doi: 10.1086/375695. Epub 2003 May 9. Am J Hum Genet. 2003. PMID: 12740760 Free PMC article.
Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities.
Vissers LE, de Vries BB, Osoegawa K, Janssen IM, Feuth T, Choy CO, Straatman H, van der Vliet W, Huys EH, van Rijk A, Smeets D, van Ravenswaaij-Arts CM, Knoers NV, van der Burgt I, de Jong PJ, Brunner HG, van Kessel AG, Schoenmakers EF, Veltman JA. Vissers LE, et al. Among authors: janssen im. Am J Hum Genet. 2003 Dec;73(6):1261-70. doi: 10.1086/379977. Epub 2003 Nov 18. Am J Hum Genet. 2003. PMID: 14628292 Free PMC article.
Mutations in a new member of the chromodomain gene family cause CHARGE syndrome.
Vissers LE, van Ravenswaaij CM, Admiraal R, Hurst JA, de Vries BB, Janssen IM, van der Vliet WA, Huys EH, de Jong PJ, Hamel BC, Schoenmakers EF, Brunner HG, Veltman JA, van Kessel AG. Vissers LE, et al. Nat Genet. 2004 Sep;36(9):955-7. doi: 10.1038/ng1407. Epub 2004 Aug 8. Nat Genet. 2004. PMID: 15300250
Diagnostic genome profiling in mental retardation.
de Vries BB, Pfundt R, Leisink M, Koolen DA, Vissers LE, Janssen IM, Reijmersdal Sv, Nillesen WM, Huys EH, Leeuw Nd, Smeets D, Sistermans EA, Feuth T, van Ravenswaaij-Arts CM, van Kessel AG, Schoenmakers EF, Brunner HG, Veltman JA. de Vries BB, et al. Am J Hum Genet. 2005 Oct;77(4):606-16. doi: 10.1086/491719. Epub 2005 Aug 30. Am J Hum Genet. 2005. PMID: 16175506 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. 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
774 results