Browsing by Author "Syed, Najeeb"

Now showing items 1-8 of 8

    • Actionable genomic variants in 6045 participants from the Qatar Genome Program 

      Elfatih, Amal; Mifsud, Borbala; Syed, Najeeb; Badii, Ramin; Mbarek, Hamdi; ... more authors (2021 , Article)
      In a clinical setting, DNA sequencing can uncover findings unrelated to the purpose of genetic evaluation. The American College of Medical Genetics and Genomics (ACMG) recommends the evaluation and reporting of 59 genes ...

    • 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 ...

    • Genetic variations influence brain changes in patients with attention-deficit hyperactivity disorder 

      Yadav, Santosh K.; Bhat, Ajaz A.; Hashem, Sheema; Nisar, Sabah; Kamal, Madeeha; ... more authors ( Springer Nature , 2021 , Article Review)
      Attention-deficit hyperactivity disorder (ADHD) is a neurological and neurodevelopmental childhood-onset disorder characterized by a persistent pattern of inattentiveness, impulsiveness, restlessness, and hyperactivity. ...

    • Genomic architecture of autism spectrum disorder in Qatar: The BARAKA-Qatar Study 

      Abdi, Mona; Aliyev, Elbay; Trost, Brett; Kohailan, Muhammad; Aamer, Waleed; ... more authors ( Springer Nature , 2023 , Article)
      Background: Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by impaired social and communication skills, restricted interests, and repetitive behaviors. The prevalence of ASD among children ...

    • Investigation of Genetic Causes in Patients with Congenital Heart Disease in Qatar: Findings from the Sidra Cardiac Registry 

      Okashah, Sarah; Vasudeva, Dhanya; El Jerbi, Aya; Khodjet-El-khil, Houssein; Al-Shafai, Mashael; ... more authors ( Multidisciplinary Digital Publishing Institute (MDPI) , 2022 , Article)
      Congenital heart disease (CHD) is one of the most common forms of birth defects worldwide, with a prevalence of 1–2% in newborns. CHD is a multifactorial disease partially caused by genetic defects, including chromosomal ...

    • Near-complete Middle Eastern genomes refine autozygosity and enhance disease-causing and population-specific variant discovery 

      Ghorbani, Mohammadmersad; Moosa, Shabir; Siddig, Zenab; Farhad, Radi; Naeem, Haroon; ... more authors ( Elsevier , 2025 , Article)
      Advances in long-read sequencing have enabled routine complete assembly of human genomes, but much remains to be done to represent broader populations and show impact on disease-gene discovery. Here, we report highly ...

    • Thousands of Qatari genomes inform human migration history and improve imputation of Arab haplotypes 

      Razali, Rozaimi Mohamad; Rodriguez-Flores, Juan; Ghorbani, Mohammadmersad; Naeem, Haroon; Aamer, Waleed; ... more authors ( Nature Research , 2021 , Article)
      Arab populations are largely understudied, notably their genetic structure and history. Here we present an in-depth analysis of 6,218 whole genomes from Qatar, revealing extensive diversity as well as genetic ancestries ...

    • Whole genome sequencing in the Middle Eastern Qatari population identifies genetic associations with 45 clinically relevant traits 

      Thareja, Gaurav; Al-Sarraj, Yasser; Belkadi, Aziz; Almotawa, Maryam; Ismail, Said; ... more authors ( Springer Nature , 2021 , Article)
      Clinical laboratory tests play a pivotal role in medical decision making, but little is known about their genetic variability between populations. We report a genome-wide association study with 45 clinically relevant traits ...