Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population

Autor: Monies, Dorota, Abouelhoda, Mohammed, Assoum, Mirna, Moghrabi, Nabil, Rafiullah, Rafiullah, Almontashiri, Naif, Alowain, Mohammed, Alzaidan, Hamad, Alsayed, Moeen, Subhani, Shazia, Cupler, Edward, Faden, Maha, Alhashem, Amal, Qari, Alya, Chedrawi, Aziza, Aldhalaan, Hisham, Kurdi, Wesam, Khan, Sameena, Rahbeeni, Zuhair, Alotaibi, Maha, Goljan, Ewa, Elbardisy, Hadeel, ElKalioby, Mohamed, Shah, Zeeshan, Alruwaili, Hibah, Jaafar, Amal, Albar, Ranad, Akilan, Asma, Tayeb, Hamsa, Tahir, Asma, Fawzy, Mohammed, Nasr, Mohammed, Makki, Shaza, Alfaifi, Abdullah, Akleh, Hanna, Yamani, Suad, Bubshait, Dalal, Mahnashi, Mohammed, Basha, Talal, Alsagheir, Afaf, Abu Khaled, Musad, Alsaleem, Khalid, Almugbel, Maisoon, Badawi, Manal, Bashiri, Fahad, Bohlega, Saeed, Sulaiman, Raashida, Tous, Ehab, Ahmed, Syed, Algoufi, Talal, Al-Mousa, Hamoud, Alaki, Emadia, Alhumaidi, Susan, Alghamdi, Hadeel, Alghamdi, Malak, Sahly, Ahmed, Nahrir, Shapar, Al-Ahmari, Ali, Alkuraya, Hisham, Almehaidib, Ali, Abanemai, Mohammed, Alsohaibaini, Fahad, Alsaud, Bandar, Arnaout, Rand, Abdel-Salam, Ghada M.H., Aldhekri, Hasan, AlKhater, Suzan, Alqadi, Khalid, Alsabban, Essam, Alshareef, Turki, Awartani, Khalid, Banjar, Hanaa, Alsahan, Nada, Abosoudah, Ibraheem, Alashwal, Abdullah, Aldekhail, Wajeeh, Alhajjar, Sami, Al-Mayouf, Sulaiman, Alsemari, Abdulaziz, Alshuaibi, Walaa, Altala, Saeed, Altalhi, Abdulhadi, Baz, Salah, Hamad, Muddathir, Abalkhail, Tariq, Alenazi, Badi, Alkaff, Alya, Almohareb, Fahad, Al Mutairi, Fuad, Alsaleh, Mona, Alsonbul, Abdullah, Alzelaye, Somaya, Bahzad, Shakir, Manee, Abdulaziz Bin, Jarrad, Ola, Meriki, Neama, Albeirouti, Bassem, Alqasmi, Amal, AlBalwi, Mohammed, Makhseed, Nawal, Hassan, Saeed, Salih, Isam, Salih, Mustafa A., Shaheen, Marwan, Sermin, Saadeh, Shahrukh, Shamsad, Hashmi, Shahrukh, Shawli, Ayman, Tajuddin, Ameen, Tamim, Abdullah, Alnahari, Ahmed, Ghemlas, Ibrahim, Hussein, Maged, Wali, Sami, Murad, Hatem, Meyer, Brian F., Alkuraya, Fowzan S.

Publikováno v: In The American Journal of Human Genetics 6 June 2019 104(6):1182-1201

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Neurodevelopmental disorders associated variants in ADAT3 disrupt the activity of the ADAT2/ADAT3 tRNA deaminase complex and impair neuronal migration.

Autor: Del-Pozo-Rodriguez J, Tilly P, Lecat R, Vaca HR, Mosser L, Brivio E, Balla T, Gomes MV, Ramos-Morales E, Schwaller N, Salinas-Giegé T, VanNoy G, England EM, Lovgren AK, O'Leary M, Chopra M, Ojeda NM, Toosi MB, Eslahi A, Alerasool M, Mojarrad M, Pais LS, Yeh RC, Gable DL, Hashem MO, Abdulwahab F, Alzaidan H, Aldhalaan H, Tous E, Alsagheir A, Alowain M, Tamim A, Alfayez K, Alhashem A, Alnuzha A, Kamel M, Al-Awam BS, Elnaggar W, Almenabawy N, O'Donnell-Luria A, Neil JE, Gleeson JG, Walsh CA, Alkuraya FS, AlAbdi L, Elkhateeb N, Selim L, Srivastava S, Nedialkova DD, Drouard L, Romier C, Bayam E, Godin JD

Publikováno v: MedRxiv : the preprint server for health sciences [medRxiv] 2024 Nov 18. Date of Electronic Publication: 2024 Nov 18.