Saima N Kayani

  • 58 Citations
  • 3 h-Index
20092020

Research output per year

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Research Output

  • 58 Citations
  • 3 h-Index
  • 3 Article
  • 1 Chapter
  • 1 Comment/debate
  • 1 Letter
2019

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., 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, p. 778 1 p.

Research output: Contribution to journalComment/debate

Open Access
3 Scopus citations

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

Undiagnosed Diseases Network, Mar 2019, In : Epilepsia. 60, 3, p. 406-418 13 p.

Research output: Contribution to journalArticle

6 Scopus citations
2014

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

2009

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

48 Scopus citations