Fogel, Brent L.

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

RBFOX1 regulates both splicing and transcriptional networks in human neuronal development

Fogel, B. L., Wexler, E., Wahnich, A., Friedrich, T., Vijayendran, C., Gao, F., Parikshak, N., Konopka, G., & Geschwind, D. H. (2012) · Human Molecular Genetics

RNA Research and SplicingGenetics and Neurodevelopmental Disorders

Cited by 216

Whole exome sequencing in patients with white matter abnormalities

Vanderver, A., Simons, C., Helman, G., Crawford, J., Wolf, N. I., Bernard, G., Pizzino, A., Schmidt, J. L., Takanohashi, A., Miller, D., et al. (2016) · Annals of Neurology

Genomics and Rare DiseasesHereditary Neurological Disorders

Cited by 145

Orchestration of Neurodevelopmental Programs by RBFOX1

Bill, B. R., Lowe, J. K., DyBuncio, C. T., & Fogel, B. L. (2013) · International Review of Neurobiology

Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder Research

Cited by 94

Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases

Kobren, S. N., Baldridge, D., Velinder, M., Krier, J. B., LeBlanc, K., Esteves, C., Pusey, B. N., Züchner, S., Blue, E., Lee, H., et al. (2021) · Genetics in Medicine

Genomics and Rare DiseasesGenomics and Phylogenetic Studies

Cited by 27