Forchheim, Bavaria, Germany
Identification of the genetics basis of Mendalian disorders, genotype-phenotype correlation, copy number variation, linkage analysis and, application of Next Generation Sequencing methods. Functional characterization of the underlying mechanisms and the pathogenesis of skeletal dysplasias, idiopathic short stature, ciliopathies and developmental disorders. Implementation of NGS based information into clinical and research application by frontend and backend coding. Implementation of the “Deutsches Konsortium Familiärer Brust- und Eierstockskrebs“ in co-operation with the Gynecology department at the FAU Erlangen.
Group Leader and Board Certified Physician in Medical Genetics Oberarzt und Arbeitsgruppenleiter