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Human Genetics
P.O. Box 9101
6500 HB, Nijmegen
The Netherlands
T +31 24 3614941

F +31 24 3668752




 Joris Veltman is assistant professor at the Department of Human Genetics. In addition, he is the head of the Microarray Facility Nijmegen
Dr. Ir. Joris A Veltman

I have been interested in applying genomics technologies for the study of human disease ever since these technologies became available. My main focus in the last five years has been implementation of the microarray technologies for the detection of submicroscopic chromosomal abnormalities in the field of clinical genetics. Using this approach, our group has identified the causative gene for CHARGE syndrome, and recently a novel and frequent microdeletion syndrome at 17q21.31. In addition, we have been the first in the world to implement array CGH into routine diagnostics for patients with mental retardation.This combination of fundamental research, technology development and clinical application in the field of molecular cytogenetics is to me both challenging and promising. My current research focuses primarily on genomic architecture and genomic disease.

 
Recent key publications

Koolen DA, Vissers LELM, Pfundt R, de Leeuw N, Knight SJL, Regan R, Kooy FR, Reyniers E, Romano C, Fichera M, Schinzel A, Baumer A, Anderlid BM, Schoumans J, Knoers NV, Geurts van Kessel A, Sistermans EA, Veltman JA, Brunner HG, de Vries BBA. A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism. Nature Genetics, in press.

de Vries BB, P fundt R, Leisink M, Koolen DA, Vissers LE, Janssen IM, Reijmersdal S, Nillesen WM, Huys EH, Leeuw N, Smeets D, Sistermans EA, Feuth T, van Ravenswaaij-Arts CM, van Kessel AG, Schoenmakers EF, Brunner HG, Veltman JA. Diagnostic genome profiling in mental retardation. American Journal of Human Genetics, 77: 606-16 (2005).

Vissers LE, Veltman JA, van Kessel AG, Brunner HG Identification of disease genes by whole genome CGH arrays. Human Molecular Genetics, 14 Spec No. 2: R215-23. (2005).

Vissers LE, van Ravenswaaij CM, Admiraal R, Hurst JA, de Vries BB, Ja nssen IM, van der Vliet WA, Huys EH, de Jong PJ, Hamel BC, Schoenmakers EF, Brunner HG, Veltman JA, va n Kessel AG. Mutations in a novel member of the chromodomain gene family cause CHARGE syndrome. Nature Genetics, 36: 955-957 (2004).

Vissers LE, de Vries BB, Osoegawa K, Janssen IM, Feuth T, Choy CO, Straatman H, van d e r Vliet W, Huys EH, van Rijk A, Smee ts D, van Ravenswaaij-Arts CM, Knoers NV, van der Burgt I, de Jong PJ, Brunner HG, van Kessel AG, Schoenmakers EF, Veltman JA. Array-based comparative genomic hybridization for the genome wide detection of submicroscopic chromosome abnormalities. American Journal of Human Genetics, 73: 1261-1270 (2003).