Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics

  • Sateesh Maddirevula (Creator)
  • Hiroyuki Kuwahara (Creator)
  • Nour Ewida (Creator)
  • Hanan E. Shamseldin (Creator)
  • Nisha Patel (Creator)
  • Fatema AlZahrani (Creator)
  • Tarfa AlSheddi (Creator)
  • Eman Alobeid (Creator)
  • Mona Alenazi (Creator)
  • Hessa S. Alsaif (Creator)
  • Maha Alqahtani (Creator)
  • Maha AlAli (Creator)
  • Hatoon Al Ali (Creator)
  • Rana Helaby (Creator)
  • Niema Ibrahim (Creator)
  • Firdous Abdulwahab (Creator)
  • Mais Hashem (Creator)
  • Nadine Hanna (Creator)
  • Dorota Monies (Creator)
  • Nada Derar (Creator)
  • Afaf Alsagheir (Creator)
  • Amal Alhashem (Creator)
  • Badr Alsaleem (Creator)
  • Hamoud Alhebbi (Creator)
  • Sami Wali (Creator)
  • Ramzan Umarov (Creator)
  • Xin Gao (Creator)
  • Fowzan S. Alkuraya (Creator)
  • Sateesh Maddirevula (Creator)
  • Nour Ewida (Creator)
  • Hanan E. Shamseldin (Creator)
  • Nisha Patel (Creator)
  • Fatema AlZahrani (Creator)
  • Tarfa AlSheddi (Creator)
  • Eman Alobeid (Creator)
  • Mona Alenazi (Creator)
  • Hessa S. Alsaif (Creator)
  • Maha Alqahtani (Creator)
  • Maha AlAli (Creator)
  • Hatoon Al Ali (Creator)
  • Rana Helaby (Creator)
  • Niema Ibrahim (Creator)
  • Firdous Abdulwahab (Creator)
  • Mais Hashem (Creator)
  • Nadine Hanna (Creator)
  • Dorota Monies (Creator)
  • Nada Derar (Creator)
  • Afaf Alsagheir (Creator)
  • Amal Alhashem (Creator)
  • Badr Alsaleem (Creator)
  • Hamoud Alhebbi (Creator)
  • Sami Wali (Creator)
  • Fowzan S. Alkuraya (Creator)

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  • Article

    Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics.

    Maddirevula, S., Kuwahara, H., Ewida, N., Shamseldin, H. E., Patel, N., AlZahrani, F., AlSheddi, T., AlObeid, E., Alenazi, M., Alsaif, H. S., Alqahtani, M., AlAli, M., Al Ali, H., Helaby, R., Ibrahim, N., Abdulwahab, F., Hashem, M., Hanna, N., Monies, D., Derar, N. & 8 others, Alsagheir, A., Alhashem, A., Alsaleem, B., Alhebbi, H., Wali, S., Umarov, R., Gao, X. & Alkuraya, F. S., Jun 20 2020, In: Genome biology. 21, 1

    Research output: Contribution to journalArticlepeer-review

    7 Scopus citations