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

Unusual Prominent Pulmonary Involvement in a Homozygous PRF1 Gene Variant in a Female Patient.

Autor: Alsohime, Fahad, Almaghamsi, Talal, Basha, Talal A., Alardati, Hosam, Alghamdi, Malak, Hawsawi, Yousef Mohammed

Publikováno v: Journal of Clinical Immunology; 2021, Vol. 41 Issue 1, p217-220, 4p