Genomic Disorders Nijmegen
"The most important applications are in diagnostics"
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What we do
Genomic profiling
Resolving diseases
Clinical application
Projects
Current
Unravelling the etiology and role of genomic CNV in human disease
Human Genome Disorders and Genomic Architecture
Genomic Profiling In Mental Retardation
Identifying Dosage Sensitive Genes Causing Mental Retardation
TECHGENE
Aneuploidy
gEUVADIS
High-throughput medical resequencing of candidate disease genes and genomic regions
Past
Structural Variation In Schizophrenia
BIG
DPTE
Publications
2010
2009
2008
2007
2006
2005
2004
2003 & older
Technologies
High Troughput Sequencing
Microarray Platforms
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Contact
Contact information
Location
Meet us at
ISMB International Conference on Intelligent Systems for Molecular Biology Boston, USA
GDG in the news
Exome Sequencing Points to De Novo, Dominant Mutations as the Cause of a Rare, Lethal Disorder
Joris Veltman talks to In Sequence about the importance of exome sequencing, together with Lu Wang - NHGRI's program director of large scale sequencing.
Latest Publication
De novo mutations of SETBP1 cause Schinzel-Giedion syndrome.
Nat Genet. 2010 May 2.