Saima N Kayani

  • 51 Citations
  • 2 h-Index
20092019

Research output per year

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Research Output

  • 51 Citations
  • 2 h-Index
  • 3 Article
  • 1 Chapter
  • 1 Comment/debate

De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome

Palmer, E. E., Hong, S., Al Zahrani, F., Hashem, M. O., Aleisa, F. A., Ahmed, H. M. J., Kandula, T., Macintosh, R., Minoche, A. E., Puttick, C., Gayevskiy, V., Drew, A. P., Cowley, M. J., Dinger, M., Rosenfeld, J. A., Xiao, R., Cho, M. T., Yakubu, S. F., Henderson, L. B., Guillen Sacoto, M. J. & 23 others, Begtrup, A., Hamad, M., Shinawi, M., Andrews, M. V., Jones, M. C., Lindstrom, K., Bristol, R. E., Kayani, S. N., Snyder, M., Villanueva, M. M., Schteinschnaider, A., Faivre, L., Thauvin, C., Vitobello, A., Roscioli, T., Kirk, E. P., Bye, A., Merzaban, J., Jaremko, Ł., Jaremko, M., Sachdev, R. K., Alkuraya, F. S. & Arold, S. T., Mar 7 2019, In : American Journal of Human Genetics. 104, 3, p. 542-552 11 p.

Research output: Contribution to journalArticle

  • 1 Scopus citations

    Erratum: De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-progressive Neurocognitive Syndrome (The American Journal of Human Genetics (2019) 104(3) (542–552), (S0002929719300138), (10.1016/j.ajhg.2019.01.013))

    Palmer, E. E., Hong, S., Al Zahrani, F., Hashem, M. O., Aleisa, F. A., Jalal Ahmed, H. M., Kandula, T., Macintosh, R., Minoche, A. E., Puttick, C., Gayevskiy, V., Drew, A. P., Cowley, M. J., Dinger, M., Rosenfeld, J. A., Xiao, R., Cho, M. T., Yakubu, S. F., Henderson, L. B., Guillen Sacoto, M. J. & 23 others, Begtrup, A., Hamad, M., Shinawi, M., Andrews, M. V., Jones, M. C., Lindstrom, K., Bristol, R. E., Kayani, S., Snyder, M., Villanueva, M. M., Schteinschnaider, A., Faivre, L., Thauvin, C., Vitobello, A., Roscioli, T., Kirk, E. P., Bye, A., Merzaban, J., Jaremko, Ł., Jaremko, M., Sachdev, R. K., Alkuraya, F. S. & Arold, S. T., Apr 4 2019, In : American Journal of Human Genetics. 104, 4, 1 p.

    Research output: Contribution to journalComment/debate

    Open Access
  • Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate–binding region

    Undiagnosed Diseases Network, Jan 1 2019, (Accepted/In press) In : Epilepsia.

    Research output: Contribution to journalArticle

  • 5 Scopus citations

    A Neurologic Gene Map

    Kayani, S. N., Wilson, K. S. & Rosenberg, R. N., Nov 13 2014, Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease: Fifth Edition. Elsevier Inc., p. 1333-1400 68 p.

    Research output: Chapter in Book/Report/Conference proceedingChapter

  • Role of Intravenous Levetiracetam in Acute Seizure Management of Children

    Kirmani, B. F., Crisp, E. D., Kayani, S. & Rajab, H., Jul 1 2009, In : Pediatric Neurology. 41, 1, p. 37-39 3 p.

    Research output: Contribution to journalArticle

  • 45 Scopus citations