The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.

Autor: Monies D; Deparment of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia., Abouelhoda M; Deparment of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia., AlSayed M; Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia., Alhassnan Z; Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia., Alotaibi M; Children's Hospital, King Saud Medical City, Riyadh, Saudi Arabia., Kayyali H; Department of Neurosciences, King Faisal Specialist Hospital and Research Center, Jeddah, Saudi Arabia., Al-Owain M; Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia., Shah A; Department of Neurosciences, King Faisal Specialist Hospital and Research Center, Jeddah, Saudi Arabia., Rahbeeni Z; Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Al-Muhaizea MA; Department of Neurosciences, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia., Alzaidan HI; Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia., Cupler E; Department of Neurosciences, King Faisal Specialist Hospital and Research Center, Jeddah, Saudi Arabia., Bohlega S; Department of Neurosciences, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Faqeih E; Department of Pediatric Subspecialties, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia., Faden M; Children's Hospital, King Saud Medical City, Riyadh, Saudi Arabia., Alyounes B; Deparment of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia., Jaroudi D; Deparment of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia., Goljan E; Deparment of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia., Elbardisy H; Deparment of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Akilan A; Deparment of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Albar R; Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia., Aldhalaan H; Department of Neurosciences, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Gulab S; Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Jeddah, Saudi Arabia., Chedrawi A; Department of Neurosciences, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Al Saud BK; Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia., Kurdi W; Department of Obstetrics and Gynecology, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia., Makhseed N; Pediatric Department, Al-Jahra Hospital, Ministry of Health, Kuwait, Kuwait., Alqasim T; Department of Neurosciences, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., El Khashab HY; Department of Pediatrics, Children's Hospital, Ain Shams University, Cairo, Egypt.; Department of Pediatrics, Dr. Suliman Al Habib Medical Group, Riyadh, Saudi Arabia., Al-Mousa H; Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia., Alhashem A; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.; Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia., Kanaan I; Department of Neurosciences, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Algoufi T; Department of Liver Transplantation, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Alsaleem K; Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Basha TA; Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Jeddah, Saudi Arabia., Al-Murshedi F; Genetics Department, Sultan Qaboos University Hospital, Muscat, Oman., Khan S; Department of Neurosciences, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia., Al-Kindy A; Genetics Department, Sultan Qaboos University Hospital, Muscat, Oman., Alnemer M; Department of Obstetrics and Gynecology, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Al-Hajjar S; Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Alyamani S; Department of Neurosciences, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Aldhekri H; Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Al-Mehaidib A; Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Arnaout R; Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Dabbagh O; Department of Neurosciences, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Shagrani M; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.; Department of Liver Transplantation, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Broering D; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.; Department of Liver Transplantation, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Tulbah M; Department of Obstetrics and Gynecology, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Alqassmi A; Children's Hospital, King Saud Medical City, Riyadh, Saudi Arabia., Almugbel M; Department of Obstetrics and Gynecology, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., AlQuaiz M; Department of Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Alsaman A; Pediatric Neurology Department, National Neuroscience Institute, King Fahad Medical City, Riyadh, Saudi Arabia., Al-Thihli K; Genetics Department, Sultan Qaboos University Hospital, Muscat, Oman., Sulaiman RA; Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia., Al-Dekhail W; Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Alsaegh A; Genetics Department, Sultan Qaboos University Hospital, Muscat, Oman., Bashiri FA; Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia., Qari A; Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Alhomadi S; Children's Hospital, King Saud Medical City, Riyadh, Saudi Arabia., Alkuraya H; Global Eye Care, Specialized Medical Center Hospital, Riyadh, Saudi Arabia., Alsebayel M; Department of Liver Transplantation, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Hamad MH; Department of Neurosciences, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Szonyi L; Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia., Abaalkhail F; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.; Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia., Al-Mayouf SM; Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Department of Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Almojalli H; Department of Liver Transplantation, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Alqadi KS; Department of Neurosciences, King Faisal Specialist Hospital and Research Center, Jeddah, Saudi Arabia., Elsiesy H; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.; Department of Liver Transplantation, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Shuaib TM; Pediatric Department, King Abdulaziz University, Jeddah, Saudi Arabia., Seidahmed MZ; Department of Pediatrics, Security Forces Hospital, Riyadh, Saudi Arabia., Abosoudah I; Department of Oncology, King Faisal Specialist Hospital and Research Center, Jeddah, Saudi Arabia., Akleh H; Department of Obstetrics and Gynecology, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., AlGhonaium A; Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Alkharfy TM; Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia., Al Mutairi F; Medical Genetic Division, Department of Pediatrics, King Abdullah International Medical Research Centre, King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia., Eyaid W; Medical Genetic Division, Department of Pediatrics, King Abdullah International Medical Research Centre, King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia., Alshanbary A; Maternity and Children's Hospital, Mecca, Saudi Arabia., Sheikh FR; Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Alsohaibani FI; Department of Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Alsonbul A; Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Al Tala S; Saudi German Hospital, Aseer, Saudi Arabia., Balkhy S; Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Jeddah, Saudi Arabia., Bassiouni R; Clinical Genetic Division of Human Genetics & Genome Research, National Research Center, Dokki, Giza, Egypt.; Taif Children's Hospital, Taif, Saudi Arabia., Alenizi AS; Children's Hospital, King Saud Medical City, Riyadh, Saudi Arabia., Hussein MH; Department of Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Hassan S; Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia., Khalil M; Department of Pediatrics, Dr. Suliman Al Habib Medical Group, Riyadh, Saudi Arabia., Tabarki B; Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia., Alshahwan S; Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia., Oshi A; Neonatology, Al Hammadi Hospital, Riyadh, Saudi Arabia., Sabr Y; Department of Obstetrics and Gynaecology, College of Medicine, King Saud University, Riyadh, Saudi Arabia., Alsaadoun S; Department of Pediatrics, Security Forces Hospital, Riyadh, Saudi Arabia., Salih MA; Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia., Mohamed S; Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia., Sultana H; Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Tamim A; Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Jeddah, Saudi Arabia., El-Haj M; Medical Diagnostic Laboratory, Riyadh, Saudi Arabia., Alshahrani S; Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Bubshait DK; Department of Pediatrics, King Fahd Hospital of the University, College of Medicine, University of Dammam, Dammam, Saudi Arabia., Alfadhel M; Medical Genetic Division, Department of Pediatrics, King Abdullah International Medical Research Centre, King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia., Faquih T; Deparment of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia., El-Kalioby M; Deparment of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia., Subhani S; Deparment of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia., Shah Z; Deparment of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia., Moghrabi N; Medical Diagnostic Laboratory, Riyadh, Saudi Arabia., Meyer BF; Deparment of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia., Alkuraya FS; Deparment of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia. falkuraya@kfshrc.edu.sa].; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia. falkuraya@kfshrc.edu.sa].; Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia. falkuraya@kfshrc.edu.sa].

Publikováno v: Human genetics [Hum Genet] 2017 Aug; Vol. 136 (8), pp. 921-939. Date of Electronic Publication: 2017 Jun 09.

Caring for patients with rare diseases during the COVID-19 pandemic.

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