Bebin, E. Martina
5 papers on CoChatORCID 0000-0003-1264-3428
Most cited papers
- Verified
Tuberous Sclerosis Complex Diagnostic Criteria Update: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference
Northrup, H., Krueger, D. A., Northrup, H., Krueger, D. A., Roberds, S., Smith, K., Sampson, J., Korf, B., Kwiatkowski, D. J., Mowat, D., et al. (2013) · Pediatric Neurology
Tuberous Sclerosis Complex ResearchGenetic and rare skin diseases.
Cited by 1,502
- Verified
Efficacy and safety of everolimus for subependymal giant cell astrocytomas associated with tuberous sclerosis complex (EXIST-1): a multicentre, randomised, placebo-controlled phase 3 trial
Franz, D. N., Belousova, E., Sparagana, S., Bebin, E. M., Frost, M., Kuperman, R., Witt, O., Kohrman, M. H., Flamini, J. R., Wu, J. Y., et al. (2013) · The Lancet
Tuberous Sclerosis Complex ResearchPI3K/AKT/mTOR signaling in cancer
Cited by 794
- Verified
Natural history and genotype‐phenotype correlations in 72 individuals with SATB2 ‐associated syndrome
Zarate, Y. A., Smith‐Hicks, C. L., Greene, C., Abbott, M., Siu, V. M., Calhoun, A. R. U. L., Pandya, A., Li, C., Sellars, E. A., Kaylor, J., et al. (2018) · American Journal of Medical Genetics Part A
Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases
Cited by 71
- Verified
Epilepsy and Neurodevelopmental Comorbidities in Tuberous Sclerosis Complex: A Natural History Study
Gupta, A., de Bruyn, G., Tousseyn, S., Krishnan, B., Lagae, L., Agarwal, N., Minnesota Epilepsy Group, Frost, M., Sparagana, S., LaJoie, J., et al. (2020) · Pediatric Neurology
Tuberous Sclerosis Complex ResearchEpilepsy research and treatment
Cited by 64
- Verified
Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder
Hiatt, S. M., Thompson, M. L., Prokop, J. W., Lawlor, J. M. J., Gray, D. E., Bebin, E. M., Rinne, T., Kempers, M., Pfundt, R., van Bon, B. W., et al. (2019) · The American Journal of Human Genetics
Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders
Cited by 29
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