| Street / P.O. Box | Geert Grooteplein 10, 855 |
| Zip code | 6525 GA |
| City | Nijmegen |
| Country | The Netherlands |
| J.Veltman@gen.umcn.nl | |
| Phone number(s) | +31 (0)24 3614941 |
| Fax | +31 (0)24 3668752 |
| Website(s) | www.genomicdisorders.nl |
More Information
"In 2008 I was appointed associate professor at the department of human genetics in Nijmegen, with genomic
disorders as the main focus. My group was the first in the world to implement microarray-based diagnostic
genome profiling in mental retardation and the first to identify a disease gene with this approach. My work
focuses on understanding genomic variation in health and disease, with a particular interest in the role of
genomic copy number variation in mental retardation. For this work we use state-of-the-art genomics technologies
and novel bioinformatic approaches."
Projects Involved
Human genome disorders and genomic architecture,
Identifying dosage sensitive genes causing mental retardation,
High-throughput medical resequencing of candidate disease genes and genomic regions,
TECHGENE,
AnEUploidy,
gEUVADIS
Identifying dosage sensitive genes causing mental retardation,
High-throughput medical resequencing of candidate disease genes and genomic regions,
TECHGENE,
AnEUploidy,
gEUVADIS
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