• Burden of Mendelian disorders in a large Middle Eastern biobank 

      Aamer, Waleed; Al-Maraghi, Aljazi; Syed, Najeeb; Gandhi, Geethanjali Devadoss; Aliyev, Elbay; ... more authors (2024 , Article)
      Background: Genome sequencing of large biobanks from under-represented ancestries provides a valuable resource for the interrogation of Mendelian disease burden at world population level, complementing small-scale familial ...
    • The genetic basis and the diagnostic yield of genetic testing related to nonsyndromic hearing loss in Qatar 

      Alkhidir, Shaza; El-Akouri, Karen; Al-Dewik, Nader; Khodjet-El-khil, Houssein; Okashah, Sarah; ... more authors ( Springer Nature , 2024 , Article)
      Hearing loss is the most predominant sensory defect occurring in pediatrics, of which, 66% cases are attributed to genetic factors. The prevalence of hereditary hearing loss increases in consanguineous populations, and the ...