• 619 Citations
1993 …2019
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Personal profile

Research interests

Genotype / Phenotype understanding of pediatric epilepsy and Rett spectrum disorders

Fingerprint Dive into the research topics where Robin Ryther is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

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

  • 619 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 2019, In : Clinical Genetics. 95, 5, p. 575-581 7 p.

Research output: Contribution to journalArticle

Methyl-CpG-Binding Protein 2
Bruxism
Sialorrhea
Rett Syndrome
Phenotype
4 Citations (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 2019, In : American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics. 180, 1, p. 55-67 13 p.

Research output: Contribution to journalArticle

Methyl-CpG-Binding Protein 2
Rett Syndrome
Phenotype
Mutation
Brain Diseases
1 Citation (Scopus)

Developing the Pediatric Refractory Epilepsy Questionnaire: A pilot study

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

Research output: Contribution to journalArticle

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

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

Larson, A. M., Ryther, R. C. C., 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 journalArticle

Open Access
Child Behavior
Epilepsy
Sleep
Parents
Pediatrics
35 Citations (Scopus)
Sirolimus
Seizures
Epilepsy
Tuberous Sclerosis
Therapeutics