Reilly, Mary M.

Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia

Cortese, A., Simone, R., Sullivan, R., Vandrovcova, J., Tariq, H., Yau, W. Y., Humphrey, J., Jaunmuktane, Z., Sivakumar, P., Polke, J., et al. (2019) · Nature Genetics

Genetic Neurodegenerative DiseasesHereditary Neurological Disorders

Cited by 575

Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study

Ibañez, K., Polke, J., Hagelstrom, R. T., Dolzhenko, E., Pasko, D., Thomas, E. R. A., Daugherty, L. C., Kasperaviciute, D., Smith, K. R., McDonagh, E. M., et al. (2022) · The Lancet Neurology

Genetic Neurodegenerative DiseasesGenomics and Rare Diseases

Cited by 187

Targeted High-Throughput Sequencing Identifies Mutations in atlastin-1 as a Cause of Hereditary Sensory Neuropathy Type I

Guelly, C., Zhu, P.-P., Leonardis, L., Papić, L., Zidar, J., Schabhüttl, M., Strohmaier, H., Weis, J., Strom, T. M., Baets, J., et al. (2011) · The American Journal of Human Genetics

Hereditary Neurological DisordersGenetic Neurodegenerative Diseases

Cited by 143

Dysregulated mitophagy and mitochondrial organization in optic atrophy due to OPA1 mutations

Liao, C., Ashley, N., Diot, A., Morten, K., Phadwal, K., Williams, A., Fearnley, I., Rosser, L., Lowndes, J., Fratter, C., et al. (2017) · Neurology

Autophagy in Disease and TherapyMitochondrial Function and Pathology

Cited by 97

c-Jun expression in human neuropathies: a pilot study

Hutton, E. J., Carty, L., Laurá, M., Houlden, H., Lunn, M. P. T., Brandner, S., Mirsky, R., Jessen, K., & Reilly, M. M. (2011) · Journal of the Peripheral Nervous System

Nerve injury and regenerationPeripheral Neuropathies and Disorders

Cited by 63

Mutation in FAM134B causing severe hereditary sensory neuropathy: Figure 1

Murphy, S. M., Davidson, G. L., Brandner, S., Houlden, H., & Reilly, M. M. (2012) · Journal of Neurology, Neurosurgery & Psychiatry

Hereditary Neurological DisordersGenetic Neurodegenerative Diseases

Cited by 62

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