My research is focusing on whole exome capture, high-throughput mutation analyses and functional characterization of novel renal disease genes. My expertise is in the field of “Molecular Basis of Genetic Diseases” and major scientific achievements include the identification and functional characterization of more than 30 novel kidney disease genes as e.g. NPHP1, INVS, NPHP3, NPHP4, IQCB1, CEP290, NEK8, SDCCAG8, TMEM67, CEP164, ZNF423, ATXN10, TCTN1, TCTN2, SLC41A1, ANKS6, PLCE1, ARHGDIA, ADCK4, ZMYND10, LRRC6, SPAG1, IFT172, SIX1, SIX5, and FAN1  in patients with Nephronophthisis, Joubert Syndrome, Senior-Loken Syndrome, Nephrotic Syndrome, Primary Ciliary Dyskinesia, Branchio-Oto-Renal Syndrome, and Karyomegalic Interstitial Nephritis.