[Synthesized from academic records + research fields]
Research interests: Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Mitochondrial Function and Pathology, Metabolism and Genetic Disorders, Hereditary Neurological Disorders
Affiliation: Technical University of Munich, Institute of Human Genetics
Recent publications: "Holistic Exome-Based Genetic Testing in Adults With Epilepsy"; "Screening for Congenital Myasthenic Syndromes in Adults With Seronegative Myasthenia Gravis Using Next-Generation Sequencing"; "Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption"
Genomics and Rare DiseasesGenetics and Neurodevelopmental DisordersMitochondrial Function and PathologyMetabolism and Genetic DisordersHereditary Neurological Disorders
