Schuelke, Markus

MutationTaster evaluates disease-causing potential of sequence alterations

Schwarz, J. M., Rödelsperger, C., Schuelke, M., & Seelow, D. (2010) · Nature Methods

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 2,975

Myostatin Mutation Associated with Gross Muscle Hypertrophy in a Child

Schuelke, M., Wagner, K. R., Stolz, L. E., Hübner, C., Riebel, T., Kömen, W., Braun, T., Tobin, J. F., & Lee, S.-J. (2004) · New England Journal of Medicine

Muscle Physiology and DisordersCardiomyopathy and Myosin Studies

Cited by 1,399

Variants in CPA1 are strongly associated with early onset chronic pancreatitis

Witt, H., Beer, S., Rosendahl, J., Chen, J.-M., Chandak, G. R., Masamune, A., Bence, M., Szmola, R., Oracz, G., Macek, M., et al. (2013) · Nature Genetics

Pancreatitis Pathology and TreatmentPancreatic and Hepatic Oncology Research

Cited by 305

Gamma oscillations in the hippocampus require high complex I gene expression and strong functional performance of mitochondria

Kann, O., Huchzermeyer, C., Kovács, R., Wirtz, S., & Schuelke, M. (2011) · Brain

Neural dynamics and brain functionMitochondrial Function and Pathology

Cited by 189

EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia

Boczonadi, V., Müller, J. S., Pyle, A., Munkley, J., Dor, T., Quartararo, J., Ferrero, I., Karcagi, V., Giunta, M., Polvikoski, T., et al. (2014) · Nature Communications

Genetics and Neurodevelopmental DisordersRNA Research and Splicing

Cited by 149

Dynamics of myosin degradation in intensive care unit-acquired weakness during severe critical illness

Wollersheim, T., Woehlecke, J., Krebs, M., Hamati, J., Lodka, D., Luther-Schroeder, A., Langhans, C., Haas, K., Radtke, T., Kleber, C., et al. (2014) · Intensive Care Medicine

Muscle Physiology and DisordersIntensive Care Unit Cognitive Disorders

Cited by 143

Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum

Thorwarth, A., Schnittert-Hübener, S., Schrumpf, P., Müller, I., Jyrch, S., Dame, C., Biebermann, H., Kleinau, G., Katchanov, J., Schuelke, M., et al. (2014) · Journal of Medical Genetics

Genomics and Rare DiseasesDevelopmental Biology and Gene Regulation

Cited by 115

Transparent Danionella translucida as a genetically tractable vertebrate brain model

Schulze, L., Henninger, J., Kadobianskyi, M., Chaigne, T., Faustino, A. I., Hakiy, N., Albadri, S., Schuelke, M., Maler, L., Del Bene, F., et al. (2018) · Nature Methods

Zebrafish Biomedical Research ApplicationsFish biology, ecology, and behavior

Cited by 98

Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy

Burns, D. T., Donkervoort, S., Müller, J. S., Knierim, E., Bharucha-Goebel, D., Faqeih, E. A., Bell, S. K., AlFaifi, A. Y., Monies, D., Millan, F., et al. (2018) · The American Journal of Human Genetics

RNA Research and SplicingGenomics and Rare Diseases

Cited by 88

Hybrid genome assembly and annotation of Danionella translucida

Kadobianskyi, M., Schulze, L., Schuelke, M., & Judkewitz, B. (2019) · Scientific Data

Genomics and Phylogenetic StudiesZebrafish Biomedical Research Applications

Cited by 36