Article
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Genome medicine - 29 Sept 2025
Bakur Khadijah, Hamid Halima, Alhaddad Bader, Alfadhel Majid, Alhashem Amal, Eyaid Wafaa, Alanzi Talal, Al Mutairi Fuad, Alswaid Abdulrahman, Ababneh Farouq, Al Ghamdi Malak, Mohamed Sarar, Alaskar Ahmed, Alqahtani Farjah, Alzaidan Hamad, Al-Owain Mohammed, Faqeih Eissa A, Mushiba Aziza M, Alanazi Rola, Almoallem Basamat, Alsaleh Norah Saleh, Al Tala Saeed, Alshammari Muneera, Turkistani Alyazeed, Gosadi Ghadah, Hakami Fahad, Alobaid Fahad, Al Rukban Hadeel, Alfaidi Ahmed, Ba-Abbad Rola, Almuqbil Mohammed A, Al-Boukai Ahmad, Alamri Abdulrahman Saad, Alshehri Ali, Sulaiman Raashda A, Almontasheri Ali, Danish Enam, AlSagheir Afaf, Aljeaid Deema, Al-Awam Bashayer S, Shawli Aiman, Al-Otaibi Maha, Majdali Wed Sameer, Azher Zohor Asaad, Almannai Mohammed, Baalawi Wail, AlAbdi Lama, Benoukraf Touati, Alkuraya Fowzan S
Abstract excerpt
BACKGROUND: Clinical exome and genome sequencing has transformed the diagnostic workup of patients with genetic disorders. The extensive body of evidence supporting the application of this clinical genomics approach in pediatric patients stands in stark contrast to the relative paucity of evidence for its use in the adult population. Here, we describe the largest cohort to date of adult patients who underwent...
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