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A Whole-Genome Sequencing Association Study of Low Bone Mineral Density Identifies New Susceptibility Loci in the Phase I Qatar Biobank Cohort.
(
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 ...
A population study of clinically actionable genetic variation affecting drug response from the Middle East
(
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 ...
The Spectrum of Genetic Variants Associated with the Development of Monogenic Obesity in Qatar
(
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; ...
Seven novel glucose-6-phosphate dehydrogenase (G6PD) deficiency variants identified in the Qatari population
(
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 ...
Investigation of Genetic Causes in Patients with Congenital Heart Disease in Qatar: Findings from the Sidra Cardiac Registry
(
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 ...