Freisinger, Peter

Genetic diagnosis of Mendelian disorders via RNA sequencing

Kremer, L. S., Bader, D. M., Mertes, C., Kopajtich, R., Pichler, G., Iuso, A., Haack, T. B., Graf, E., Schwarzmayr, T., Terrile, C., et al. (2017) · Nature Communications

Genomics and Rare DiseasesMitochondrial Function and Pathology

Cited by 590

Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice

Mayorandan, S., Meyer, U., Gokcay, G., Segarra, N. G., de Baulny, H. O., van Spronsen, F., Zeman, J., de Laet, C., Spiekerkoetter, U., Thimm, E., et al. (2014) · Orphanet Journal of Rare Diseases

Metabolism and Genetic DisordersAmino Acid Enzymes and Metabolism

Cited by 131

Disturbed mitochondrial and peroxisomal dynamics due to loss of MFF causes Leigh-like encephalopathy, optic atrophy and peripheral neuropathy

Koch, J., Feichtinger, R. G., Freisinger, P., Pies, M., Schrödl, F., Iuso, A., Sperl, W., Mayr, J. A., Prokisch, H., & Haack, T. B. (2016) · Journal of Medical Genetics

Mitochondrial Function and PathologyMetabolism and Genetic Disorders

Cited by 127