|Street / P.O. Box||Geert Grooteplein 10, 849|
|Zip code||6525 GA|
|Phone number(s)||+31 (0)24 3617599|
I became a member of the Genomic Disorders group in February 2015 as a PhD student working on the TOPsubsidie project “Gene identification in Intellectual Disability Disorders in the era of Next Generation Sequencing: personalized genomics, phenomics and functional characterization”. As a clinical geneticist in training my main role is to collect phenotypic data and compare patients with recurrently mutated genes. I am also working on the Nijmegen Phenotype Database, which is a collection of phenotypic data from over 8000 patients with ID, and the Human Disease Genes Websites series (HDGW) (www.humandiseasegen es.com), which are gene specific websites for collection and presentation of clinical information.