• 597 Citations
1993 …2019
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Personal profile

Research interests

Genotype / Phenotype understanding of pediatric epilepsy and Rett spectrum disorders

Fingerprint Fingerprint is based on mining the text of the experts' scientific documents to create an index of weighted terms, which defines the key subjects of each individual researcher.

Epilepsy Medicine & Life Sciences
Methyl-CpG-Binding Protein 2 Medicine & Life Sciences
Rett Syndrome Medicine & Life Sciences
Mutation Medicine & Life Sciences
Chronic Fatigue Syndrome Medicine & Life Sciences
Exons Medicine & Life Sciences
Small Interfering RNA Medicine & Life Sciences
Protein Isoforms Medicine & Life Sciences

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Research Output 1993 2019

  • 597 Citations
  • 10 Article
  • 2 Letter
  • 1 Comment/debate
  • 1 Review article

Characterizing the phenotypic effect of Xq28 duplication size in MECP2 duplication syndrome

Peters, S. U., Fu, C., Suter, B., Marsh, E., Benke, T. A., Skinner, S. A., Lieberman, D. N., Standridge, S., Jones, M., Beisang, A., Feyma, T., Heydeman, P., Ryther, R., Kaufmann, W. E., Glaze, D. G., Neul, J. L. & Percy, A. K., May 1 2019, In : Clinical Genetics. 95, 5, p. 575-581 7 p.

Research output: Contribution to journalArticleResearchpeer-review

Methyl-CpG-Binding Protein 2
Bruxism
Sialorrhea
Rett Syndrome
Phenotype
1 Citation (Scopus)

The array of clinical phenotypes of males with mutations in Methyl-CpG binding protein 2

Neul, J. L., Benke, T. A., Marsh, E. D., Skinner, S. A., Merritt, J., Lieberman, D. N., Standridge, S., Feyma, T., Heydemann, P., Peters, S., Ryther, R., Jones, M., Suter, B., Kaufmann, W. E., Glaze, D. G. & Percy, A. K., Jan 1 2019, In : American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics. 180, 1, p. 55-67 13 p.

Research output: Contribution to journalArticleResearchpeer-review

Methyl-CpG-Binding Protein 2
Rett Syndrome
Phenotype
Mutation
Brain Diseases

Developing the Pediatric Refractory Epilepsy Questionnaire: A pilot study

Purusothaman, V., Ryther, R., Bertrand, M., Harker, L. A., Jeffe, D., Wallendorf, M., Smyth, M. & Limbrick, D., Jan 1 2014, In : Epilepsy and Behavior. 37, p. 26-31 6 p.

Research output: Contribution to journalArticleResearchpeer-review

Epilepsy
Pediatrics
Quality of Life
Caregivers
Seizures
54 Citations (Scopus)

Impact of pediatric epilepsy on sleep patterns and behaviors in children and parents

Larson, A. M., Ryther, R., Jennesson, M., Geffrey, A. L., Bruno, P. L., Anagnos, C. J., Shoeb, A. H., Thibert, R. L. & Thiele, E. A., Jul 1 2012, In : Epilepsia. 53, 7, p. 1162-1169 8 p.

Research output: Contribution to journalArticleResearchpeer-review

Open Access
Child Behavior
Epilepsy
Sleep
Parents
Pediatrics
32 Citations (Scopus)

Mammalian target of rapamycin (mtor) inhibition: Potential for antiseizure, antiepileptogenic, and epileptostatic therapy

Ryther, R. & Wong, M., Aug 1 2012, In : Current neurology and neuroscience reports. 12, 4, p. 410-418 9 p.

Research output: Contribution to journalArticleResearchpeer-review

Sirolimus
Seizures
Epilepsy
Tuberous Sclerosis
Therapeutics