I have a background in biochemistry and neurogenetics. During my PhD I investigated the genetic architecture of different neurological diseases like Essential Tremor, Parkinson’s Disease or autoimmune mediated encephalitis. My research focus is the application of data science and bioinformatical methods to elucidate the hidden patterns and effects in human genetic and health data sets. These efforts can then contribute to new pathological insights or new therapeutic options.
- Seeking novel breast cancer genes in women from Pakistan and Colombia using whole-genome sequencing
- Influences of copy number variants (CNVs) and polygenic risk scores (PRSs) in psychotic disorders: A prospective study and meta-analysis
When I am not working
I like to explore nature while hiking, cycling or sailing. I also have a tendency to pick up new hobbies and get really invested for a short time - previous passions include: balloon-animal making, playing ukulele, bouldering, origami and wood working.
- Mueller, S. H., Färber, A., Prüss, H., … German Network for Research on Autoimmune Encephalitis (GENERATE). (2018). Genetic predisposition in anti-LGI1 and anti-NMDA receptor encephalitis. Annals of Neurology, 863–869.
- Shalash, A. S., Rösler, T. W., Müller, S. H., … Höglinger, G. U. (2017). c.207C>G mutation in sepiapterin reductase causes autosomal dominant dopa-responsive dystonia. Neurology Genetics, 3(6), e197.
- Hopfner, F., Künstner, A., Müller, S. H., … Kuhlenbäumer, G. (2017). Gut microbiota in Parkinson disease in a northern German cohort. Brain Research, 1667, 41–45.
- Chen, W., Hopfner, F., Szymczak, S., … Deuschl, G. (2017). Topography of essential tremor. Parkinsonism and Related Disorders, 40, 58–63.
- Hopfner, F., Stevanin, G., Müller, S. H., … Kuhlenbäumer, G. (2015). The impact of rare variants in FUS in essential tremor. Movement Disorders, 30(5), 721–724.
- Müller, S. H., Girard, S. L., Hopfner, F., … Rouleau, G. A. (2016). Genome-wide association study in essential tremor identifies three new loci. Brain, 139(12), 3163–3169.
- Appenzeller, S., Helbig, I., Stephani, U., … van Baalen, A. (2012). Febrile infection-related epilepsy syndrome (FIRES) is not caused by SCN1A, POLG, PCDH19 mutations or rare copy number variations. Developmental Medicine and Child Neurology, 54(12), 1144–8.
- Hopfner, F., Müller, S. H., Steppat, D., … Kuhlenbäumer, G. (2019). No association between Parkinson disease and autoantibodies against NMDA-type glutamate receptors. Translational Neurodegeneration, 8(1), 11.
- Heyne, H. O., Singh, T., Stamberger, H., … Lemke, J. R. (2018). De novo variants in neurodevelopmental disorders with epilepsy. Nature Genetics, 123323.