• A population study of clinically actionable genetic variation affecting drug response from the Middle East 

      Jithesh, Puthen Veettil; Abuhaliqa, Mohammed; Syed, Najeeb; Ahmed, Ikhlak; El Anbari, Mohammed; ... more authors ( Nature Research , 2022 , Article)
      Clinical implementation of pharmacogenomics will help in personalizing drug prescriptions and alleviate the personal and financial burden due to inefficacy and adverse reactions to drugs. However, such implementation is ...
    • Association of genes with phenotype in autism spectrum disorder. 

      Nisar, Sabah; Hashem, Sheema; Bhat, Ajaz A; Syed, Najeeb; Yadav, Santosh; ... more authors ( Impact Journals , 2019 , Article Review)
      Autism spectrum disorder (ASD) is a genetic heterogeneous neurodevelopmental disorder that is characterized by impairments in social interaction and speech development and is accompanied by stereotypical behaviors such as ...
    • Brain microstructural changes support cognitive deficits in HIV uninfected children born to HIV infected mothers 

      Santosh K., Yadav; Gupta, Rakesh K.; Hashem, Sheema; Nisar, Sabah; Azeem, Taha; ... more authors ( Elsevier , 2020 , Article)
      IntroductionAntiretroviral therapy (ART) is considered the most effective way to prevent perinatal transmission of human immunodeficiency virus (HIV). However, there is little knowledge about the effect of ART on the brain ...
    • Claudin-1, A Double-Edged Sword in Cancer. 

      Bhat, Ajaz A; Syed, Najeeb; Therachiyil, Lubna; Nisar, Sabah; Hashem, Sheema; ... more authors ( MDPI , 2020 , Article Review)
      Claudins, a group of membrane proteins involved in the formation of tight junctions, are mainly found in endothelial or epithelial cells. These proteins have attracted much attention in recent years and have been implicated ...
    • Genetic and Neuroimaging Approaches to Understanding Post-Traumatic Stress Disorder. 

      Nisar, Sabah; Bhat, Ajaz A; Hashem, Sheema; Syed, Najeeb; Yadav, Santosh K; ... more authors ( MDPI , 2020 , Article Review)
      Post-traumatic stress disorder (PTSD) is a highly disabling condition, increasingly recognized as both a disorder of mental health and social burden, but also as an anxiety disorder characterized by fear, stress, and ...
    • 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. ...
    • 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 ...
    • Seven novel glucose-6-phosphate dehydrogenase (G6PD) deficiency variants identified in the Qatari population 

      Malik, Shaza; Zaied, Roan; Syed, Najeeb; Jithesh, Puthen; Al-Shafai, Mashael ( BioMed Central Ltd , 2021 , Article)
      Background: Glucose-6-phosphate dehydrogenase deficiency (G6PDD) is the most common red cell enzymopathy in the world. In Qatar, the incidence of G6PDD is estimated at around 5%; however, no study has investigated the ...
    • The QChip1 knowledgebase and microarray for precision medicine in Qatar 

      Rodriguez-Flores, Juan L.; Messai-Badji, Radja; Robay, Amal; Temanni, Ramzi; Syed, Najeeb; ... more authors ( Nature Research , 2022 , Article)
      Risk genes for Mendelian (single-gene) disorders (SGDs) are consistent across populations, but pathogenic risk variants that cause SGDs are typically population-private. The goal was to develop "QChip1," an inexpensive ...
    • The Spectrum of Genetic Variants Associated with the Development of Monogenic Obesity in Qatar 

      Abouhashem, Nadien; Zaied, Roan E.; Al-Shafai, Kholoud; Nofal, Mariam; Syed, Najeeb; ... more authors ( S. Karger AG , 2022 , Article)
      Introduction: Monogenic obesity (MO) is a rare genetic disease characterized by severe early-onset obesity in affected individuals. Previous genetic studies revealed 8 definitive genes for monogenic non-syndromic obesity; ...
    • A Whole-Genome Sequencing Association Study of Low Bone Mineral Density Identifies New Susceptibility Loci in the Phase I Qatar Biobank Cohort. 

      Younes, Nadin; Syed, Najeeb; Yadav, Santosh K; Haris, Mohammad; Abdallah, Atiyeh M; ... more authors ( MDPI , 2021 , Article)
      Bone density disorders are characterized by a reduction in bone mass density and strength, which lead to an increase in the susceptibility to sudden and unexpected fractures. Despite the serious consequences of low bone ...