Research output

Research output per year 1987 2020

• 1466 Citations
• 19 h-Index
• 118 Article
• 3 Comment/debate
• 3 Letter

Research output per year

Research output per year

Search results

• Letter

  Characterization of greater middle eastern genetic variation for enhanced disease gene discovery

  Scott, E. M., Halees, A., Itan, Y., Spencer, E. G., He, Y., Azab, M. A., Gabriel, S. B., Belkadi, A., Boisson, B., Abel, L., Clark, A. G., Rahim, S. A., Alkuraya, F. S., Casanova, J. L., Gleeson, J. G., Abdou, M., Abhytankar, A., Adimi, P., Ahmad, J., Akcakus, M. & 31 others, Aksu, G., Al Hajjar, S., Al Juamaah, S., Al Muhsen, S., Al Sannaa, N., Al Tameni, S., Al-Aama, J., Al-Allawi, N., Al-Baradie, R., Al-Gazali, L., Al-Hashem, A., Al-Herz, W., Al-Jeaid, D., Al-Tawari, A., Alangari, A., Alcais, A., AlFawaz, T. S., Alsum, Z., Ammar-Khodja, A., Amouian, S., Arikan, C., Aryani, O., Aslanger, A., Aydogmus, C., Aytekin, C., Azam, M., Bansagi, B., Barbouche, M. R., Bastaki, L., Koul, R. & Greater Middle East Variome Consortium, Sep 1 2016, In: Nature Genetics. 48, 9, p. 1071-1079 9 p.

  Research output: Contribution to journal › Letter › peer-review

  • Genetic Association Studies
  • Genetic Variation
  • Middle East
  • Population
  • Consanguinity
  130 Citations (Scopus)

• Missense mutations in SLC25A1 are associated with congenital myasthenic syndrome type 23

  AL-Futaisi, A., Ahmad, F., Al-Kasbi, G., Al-Thihli, K., Koul, R. & Al-Maawali, A., Apr 1 2020, In: Clinical Genetics. 97, 4, p. 666-667 2 p.

  Research output: Contribution to journal › Letter › peer-review
  2 Citations (Scopus)

• Rub Evoked Reflex Epilepsy in an Infant With Cerebellar Hypoplasia

  Koul, R., Al Futaisi, A., Prabhakaran, V. & Almashaikhi, T., May 1 2016, In: Pediatric Neurology. 58, p. e1-e2

  Research output: Contribution to journal › Letter › peer-review
  1 Citation (Scopus)