Fingerprint The fingerprint is based on mining the text of the scientific documents related to the associated persons. Based on that an index of weighted terms is created, which defines the key subjects of research unit

Spinal Muscular Atrophy Medicine & Life Sciences
Stroke Medicine & Life Sciences
Duchenne Muscular Dystrophy Medicine & Life Sciences
Pediatrics Medicine & Life Sciences
Sickle Cell Anemia Medicine & Life Sciences
Spinal Muscular Atrophies of Childhood Medicine & Life Sciences
Muscular Dystrophies Medicine & Life Sciences
Nemaline Myopathies Medicine & Life Sciences

Network Recent external collaboration on country level. Dive into details by clicking on the dots.

Research Output 1990 2018

3 Citations

Clinical and molecular spectrum of thymidine kinase 2-related mtDNA maintenance defect

Wang, J., Kim, E., Dai, H., Stefans, V., Vogel, H., Al Jasmi, F., Schrier Vergano, S. A., Castro, D., Bernes, S., Bhambhani, V., Long, C., El-Hattab, A. W. & Wong, L. J., Jun 1 2018, In : Molecular Genetics and Metabolism. 124, 2, p. 124-130 7 p.

Research output: Contribution to journalArticle

Mitochondrial DNA
Maintenance
Defects
Muscular Diseases
Differential Diagnosis

Clinical Utility of Reinterpreting Previously Reported Genomic Epilepsy Test Results for Pediatric Patients

Sorelle, J. A., Thodeson, D. M., Arnold, S., Gotway, G. & Park, J. Y., Jan 1 2018, (Accepted/In press) In : JAMA pediatrics.

Research output: Contribution to journalArticle

Epilepsy
Pediatrics
Health Facilities
Tertiary Healthcare
Outcome Assessment (Health Care)
2 Citations

Congenital Titinopathy: Comprehensive characterization and pathogenic insights

Oates, E. C., Jones, K. J., Donkervoort, S., Charlton, A., Brammah, S., Smith, J. E., Ware, J. S., Yau, K. S., Swanson, L. C., Whiffin, N., Peduto, A. J., Bournazos, A., Waddell, L. B., Farrar, M. A., Sampaio, H. A., Teoh, H. L., Lamont, P. J., Mowat, D., Fitzsimons, R. B., Corbett, A. J. & 64 othersRyan, M. M., O'Grady, G. L., Sandaradura, S. A., Ghaoui, R., Joshi, H., Marshall, J. L., Nolan, M. A., Kaur, S., Punetha, J., Töpf, A., Harris, E., Bakshi, M., Genetti, C. A., Marttila, M., Werlauff, U., Streichenberger, N., Pestronk, A., Mazanti, I., Pinner, J. R., Vuillerot, C., Grosmann, C., Camacho, A., Mohassel, P., Leach, M. E., Foley, A. R., Bharucha-Goebel, D., Collins, J., Connolly, A. M., Gilbreath, H. R., Iannaccone, S. T., Castro, D., Cummings, B. B., Webster, R. I., Lazaro, L., Vissing, J., Coppens, S., Deconinck, N., Luk, H. M., Thomas, N. H., Foulds, N. C., Illingworth, M. A., Ellard, S., McLean, C. A., Phadke, R., Ravenscroft, G., Witting, N., Hackman, P., Richard, I., Cooper, S. T., Kamsteeg, E. J., Hoffman, E. P., Bushby, K., Straub, V., Udd, B., Ferreiro, A., North, K. N., Clarke, N. F., Lek, M., Beggs, A. H., Bönnemann, C. G., MacArthur, D. G., Granzier, H., Davis, M. R. & Laing, N. G., Jun 1 2018, In : Annals of Neurology. 83, 6, p. 1105-1124 20 p.

Research output: Contribution to journalArticle

Protein Isoforms
Mutation
Skeletal Muscle
Connectin
High-Throughput Nucleotide Sequencing