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

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

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

48 Scopus citations

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

    Maddirevula, S. (Creator), Kuwahara, H. (Creator), Ewida, N. (Creator), Shamseldin, H. E. (Creator), Patel, N. (Creator), AlZahrani, F. (Creator), AlSheddi, T. (Creator), AlObeid, E. (Creator), Alenazi, M. (Creator), Alsaif, H. S. (Creator), Alqahtani, M. (Creator), AlAli, M. (Creator), Al Ali, H. (Creator), Helaby, R. (Creator), Ibrahim, N. (Creator), Abdulwahab, F. (Creator), Hashem, M. (Creator), Hanna, N. (Creator), Monies, D. (Creator), Derar, N. (Creator), Alsagheir, A. (Creator), Alhashem, A. (Creator), Alsaleem, B. (Creator), Alhebbi, H. (Creator), Wali, S. (Creator), Umarov, R. (Creator), Gao, X. (Creator), Alkuraya, F. S. (Creator), Maddirevula, S. (Creator), Ewida, N. (Creator), Shamseldin, H. E. (Creator), Patel, N. (Creator), AlZahrani, F. (Creator), AlSheddi, T. (Creator), AlObeid, E. (Creator), Alenazi, M. (Creator), Alsaif, H. S. (Creator), Alqahtani, M. (Creator), AlAli, M. (Creator), Al Ali, H. (Creator), Helaby, R. (Creator), Ibrahim, N. (Creator), Abdulwahab, F. (Creator), Hashem, M. (Creator), Hanna, N. (Creator), Monies, D. (Creator), Derar, N. (Creator), Alsagheir, A. (Creator), Alhashem, A. (Creator), Alsaleem, B. (Creator), Alhebbi, H. (Creator), Wali, S. (Creator) & Alkuraya, F. S. (Creator), figshare, 2020

    DOI: 10.6084/m9.figshare.c.5026505.v1, http://hdl.handle.net/10754/664967

    Dataset

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

    Maddirevula, S. (Creator), Kuwahara, H. (Creator), Ewida, N. (Creator), Shamseldin, H. E. (Creator), Patel, N. (Creator), AlZahrani, F. (Creator), AlSheddi, T. (Creator), AlObeid, E. (Creator), Alenazi, M. (Creator), Alsaif, H. S. (Creator), Alqahtani, M. (Creator), AlAli, M. (Creator), Al Ali, H. (Creator), Helaby, R. (Creator), Ibrahim, N. (Creator), Abdulwahab, F. (Creator), Hashem, M. (Creator), Hanna, N. (Creator), Monies, D. (Creator), Derar, N. (Creator), Alsagheir, A. (Creator), Alhashem, A. (Creator), Alsaleem, B. (Creator), Alhebbi, H. (Creator), Wali, S. (Creator), Umarov, R. (Creator), Gao, X. (Creator), Alkuraya, F. S. (Creator), Maddirevula, S. (Creator), Ewida, N. (Creator), Shamseldin, H. E. (Creator), Patel, N. (Creator), AlZahrani, F. (Creator), AlSheddi, T. (Creator), AlObeid, E. (Creator), Alenazi, M. (Creator), Alsaif, H. S. (Creator), Alqahtani, M. (Creator), AlAli, M. (Creator), Al Ali, H. (Creator), Helaby, R. (Creator), Ibrahim, N. (Creator), Abdulwahab, F. (Creator), Hashem, M. (Creator), Hanna, N. (Creator), Monies, D. (Creator), Derar, N. (Creator), Alsagheir, A. (Creator), Alhashem, A. (Creator), Alsaleem, B. (Creator), Alhebbi, H. (Creator), Wali, S. (Creator) & Alkuraya, F. S. (Creator), figshare, 2020

    DOI: 10.6084/m9.figshare.c.5026505.v1, http://hdl.handle.net/10754/664968

    Dataset