Research interests include the molecular basis of congenital malformations and their implications in understanding developmental processes. This essentially takes us from the Phenome to the Genome. Current projects focus on disesae gene identification by linkage mapping, and by microarray. In collaboration with bioinformaticians at Nijmegen University, new approaches to the classification of phenotypes and their application to candidate gene identification are developed.
Ineke van der Burgt is a clinical geneticist at the department of Human Genetics in Nijmegen, The Netherlands. Her main interests are the clinical diagnosis of dysmorphic syndromes and prenatal diagnosis. She has performed systematic research in Noonan syndrome since 1992. Her thesis titled ''Clinical and Genetic studies in Noonan syndrome'' was published in 2000. For several years before her start as a resident in Clinical Genetics, she was a physician for people with intellectual disabilities in Wehl, The Netherlands. Her fields of interest are dysmorphology, mental retardation, prenatal diagnosis and therapy. She is a member of the Board of the Dutch Society of Clinical Genetics (VKGN), Medical adviser of the Dutch Noonan syndrome patient Group (Stitching Noonan Syndrome Nederland) and a member of the Dutch Society for Prenatal Diagnosis and Treatment (WPDN).
European Commission Public Health Executive Agency (DG Sanco) Project: 2006122 - A European Network of Centres of Expertise for Dysmorphology