Browsing by Author "Fakhro, Khalid"

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 ...

    • Deciphering metabolomics and lipidomics landscape in zebrafish hypertrophic cardiomyopathy model 

      Jacob, Shana; Abuarja, Tala; Shaath, Rulan; Hasan, Waseem; Balayya, Saroja; ... more authors ( Springer Nature , 2024 , Article)
      To elucidate the lipidomic and metabolomic alterations associated with hypertrophic cardiomyopathy (HCM) pathogenesis, we utilized cmybpc3-/- zebrafish model. Fatty acid profiling revealed variability of 10 fatty acids ...

    • 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. ...

    • Genetics of glutamate and its receptors in autism spectrum disorder 

      Nisar, Sabah; Bhat, Ajaz A.; Masoodi, Tariq; Hashem, Sheema; Akhtar, Sabah; ... more authors ( Springer Nature , 2022 , Article Review)
      Autism spectrum disorder (ASD) is a neurodevelopmental impairment characterized by deficits in social interaction skills, impaired communication, and repetitive and restricted behaviors that are thought to be due to altered ...

    • Qatar genome: Insights on genomics from the Middle East 

      Mbarek, Hamdi; Devadoss Gandhi, Geethanjali; Selvaraj, Senthil; Al-Muftah, Wadha; Badji, Radja; ... more authors ( Wiley , 2022 , Article)
      Despite recent biomedical breakthroughs and large genomic studies growing momentum, the Middle Eastern population, home to over 400 million people, is underrepresented in the human genome variation databases. Here we ...

    • Role of NAD+ in regulating cellular and metabolic signaling pathways 

      Sara, Amjad; Nisar, Sabah; Bhat, Ajaz A.; Shah, Ab Rauf; Frenneaux, Michael P.; ... more authors ( Elsevier , 2021 , Article Review)
      BackgroundNicotinamide adenine dinucleotide (NAD+), a critical coenzyme present in every living cell, is involved in a myriad of metabolic processes associated with cellular bioenergetics. For this reason, NAD+ is often ...

    • 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 ...

    • Willingness to participate in genome testing: a survey of public attitudes from Qatar 

      Abdul-Rahim, Hanan; Ismail, Said; Hasan, Amel; Fadl, Tasnim; Khaled, Salma; ... more authors ( Springer , 2020 , Article)
      Genomics has the potential to revolutionize medical approaches to disease prevention, diagnosis, and treatment, but it does not come without challenges. The success of a national population-based genome program, like the ...