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

  • 2 Similar Profiles
Rett Syndrome Medicine & Life Sciences
Mutation Medicine & Life Sciences
Brain Medicine & Life Sciences
Genes Medicine & Life Sciences
Adrenoleukodystrophy Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Leukoencephalopathies Medicine & Life Sciences
Seizures Medicine & Life Sciences

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Research Output 1978 2017

Evaluation of QTc in Rett syndrome: Correlation with age, severity, and genotype

Crosson, J., Srivastava, S., Bibat, G. M., Gupta, S., Kantipuly, A., Smith-Hicks, C., Myers, S. M., Sanyal, A., Yenokyan, G., Brenner, J. & Naidu, S. R. 2017 (Accepted/In press) In : American Journal of Medical Genetics, Part A.

Research output: Research - peer-reviewArticle

Rett Syndrome
Genotype
Mutation
Electrocardiography
Sudden Death

Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy

Lehman, A., Thouta, S., Mancini, G. M. S., Naidu, S., van Slegtenhorst, M., McWalter, K., Person, R., Mwenifumbo, J., Salvarinova, R., Guella, I., McKenzie, M. B., Datta, A., Connolly, M. B., Kalkhoran, S. M., Poburko, D., Friedman, J. M., Farrer, M. J., Demos, M., Desai, S. & Claydon, T. 2017 (Accepted/In press) In : American Journal of Human Genetics.

Research output: Research - peer-reviewArticle

Exome
Potassium Channels
Brain Diseases
Missense Mutation
Intellectual Disability

Randomized open-label trial of dextromethorphan in Rett syndrome

Smith-Hicks, C. L., Gupta, S., Ewen, J. B., Hong, M., Kratz, L., Kelley, R., Tierney, E., Vaurio, R., Bibat, G., Sanyal, A., Yenokyan, G., Brereton, N., Johnston, M. V. & Naidu, S. Oct 17 2017 In : Neurology. 89, 16, p. 1684-1690 7 p.

Research output: Research - peer-reviewArticle

Dextromethorphan
Rett Syndrome
Seizures
Checklist
Electroencephalography

BRAT1 mutations present with a spectrum of clinical severity

Srivastava, S., Olson, H. E., Cohen, J. S., Gubbels, C. S., Lincoln, S., Davis, B. T., Shahmirzadi, L., Gupta, S., Picker, J., Yu, T. W., Miller, D. T., Soul, J. S., Poretti, A. & Naidu, S. 2016 (Accepted/In press) In : American Journal of Medical Genetics, Part A.

Research output: Research - peer-reviewArticle

Mutation
Epilepsy
Seizures
Apraxias
Microcephaly

Loss-of-function variants in HIVEP2 are a cause of intellectual disability

Srivastava, S., Engels, H., Schanze, I., Cremer, K., Wieland, T., Menzel, M., Schubach, M., Biskup, S., Krei, M., Endele, S., Strom, T. M., Wieczorek, D., Zenker, M., Gupta, S., Cohen, J., Zink, A. M. & Naidu, S. Apr 1 2016 In : European Journal of Human Genetics. 24, 4, p. 556-561 6 p.

Research output: Research - peer-reviewArticle

Intellectual Disability
Exome
Brain
Genes
Haploinsufficiency