Matthews, Emma

Whole-genome sequencing of patients with rare diseases in a national health system

Turro, E., Astle, W. J., Megy, K., Gräf, S., Greene, D., Shamardina, O., Allen, H. L., Sanchis-Juan, A., Frontini, M., Thys, C., et al. (2020) · Nature

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 554

Corticosteroids for the treatment of Duchenne muscular dystrophy

Matthews, E., Brassington, R., Kuntzer, T., Jichi, F., & Manzur, A. Y. (2016) · Cochrane Database of Systematic Reviews

Muscle Physiology and DisordersNeurogenetic and Muscular Disorders Research

Cited by 493

Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis

Matthews, E., Labrum, R., Sweeney, M. G., Sud, R., Haworth, A., Chinnery, P. F., Meola, G., Schorge, S., Kullmann, D. M., Davis, M. B., et al. (2009) · Neurology

Ion channel regulation and functionCardiac electrophysiology and arrhythmias

Cited by 201

Periodic paralysis

Fialho, D., Griggs, R. C., & Matthews, E. L. (2018) · Handbook of clinical neurology

Ion channel regulation and functionCardiac electrophysiology and arrhythmias

Cited by 61

De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures

Ito, Y., Carss, K. J., Duarte, S. T., Hartley, T., Keren, B., Kurian, M. A., Marey, I., Charles, P., Mendonça, C., Nava, C., et al. (2018) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 41

Mutations in XRCC1 cause cerebellar ataxia and peripheral neuropathy

O’Connor, E., Vandrovcova, J., Bugiardini, E., Chelban, V., Manole, A., Davagnanam, I., Wiethoff, S., Pittman, A., Lynch, D. S., Efthymiou, S., et al. (2018) · Journal of Neurology, Neurosurgery & Psychiatry

Genetic Neurodegenerative DiseasesHereditary Neurological Disorders

Cited by 29