Bennett, Mark F.

Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS

Rafehi, H., Szmulewicz, D. J., Bennett, M. F., Sobreira, N. L. M., Pope, K., Smith, K. R., Gillies, G., Diakumis, P., Dolzhenko, E., Eberle, M. A., et al. (2019) · The American Journal of Human Genetics

Genetic Neurodegenerative DiseasesGenomics and Rare Diseases

Cited by 262

SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy

Vlaskamp, D. R. M., Shaw, B. J., Burgess, R., Mei, D., Montomoli, M., Xie, H., Myers, C. T., Bennett, M. F., XiangWei, W., Williams, D., et al. (2019) · Neurology

Epilepsy research and treatmentGenetics and Neurodevelopmental Disorders

Cited by 206

Genes4Epilepsy: An epilepsy gene resource

Oliver, K. L., Scheffer, I. E., Bennett, M. F., Grinton, B. E., Bahlo, M., & Berkovic, S. F. (2023) · Epilepsia

Epilepsy research and treatmentGenomics and Rare Diseases

Cited by 172

Recent advances in the detection of repeat expansions with short-read next-generation sequencing

Bahlo, M., Bennett, M. F., Degorski, P., Tankard, R. M., Delatycki, M. B., & Lockhart, P. J. (2018) · F1000Research

Genomics and Rare DiseasesGenetic Neurodegenerative Diseases

Cited by 117

NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

Stamberger, H., Hammer, T. B., Gardella, E., Vlaskamp, D. R. M., Bertelsen, B., Mandelstam, S., de Lange, I., Zhang, J., Myers, C. T., Fenger, C., et al. (2021) · Genetics in Medicine

Genetics and Neurodevelopmental DisordersEpilepsy research and treatment

Cited by 57

Somatic Mosaic Pathogenic Variant Gradient Detected in Trace Brain Tissue From Stereo-EEG Depth Electrodes

Ye, Z., Bennett, M. F., Neal, A., Laing, J. A., Hunn, M. K., Wittayacharoenpong, T., Todaro, M., Patel, S. K., Bahlo, M., Kwan, P., et al. (2022) · Neurology

Epilepsy research and treatmentGenomics and Rare Diseases

Cited by 35