Associated Papers
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
Homozygous familial hypercholesterolemia evaluation and survival single center study in Saudi Arabia: The HESSA registry.
Kholaif N et al.
Atherosclerosis, 2025
Identification of variants in exon 4 of the LDLR gene and assessment of their effects on the produced proteins in saudi women with metabolic syndrome.
Al-Amodi HS et al.
Diabetology & Metabolic Syndrome, 2025
Clinical exome sequencing by general pediatricians: high clinical utility and no evidence of inappropriate testing.
Baz DS et al.
Frontiers in Pediatrics, 2024
Genetic association between vitamin D receptor gene and Saudi patients confirmed with Familial Hypercholesterolemia.
Al-Nbaheen MS
Acta Biochimica Polonica, 2023
Novel LDLR Variant in Familial Hypercholesterolemia: NGS-Based Identification, In Silico Characterization, and Pharmacogenetic Insights.
Athar M et al.
Life (basel, Switzerland), 2023
Management and clinical outcomes of patients with homozygous familial hypercholesteremia in Saudi Arabia.
Kholaif N et al.
Monaldi Archives for Chest Disease = Archivio Monaldi Per Le Malattie Del Torace, 2023
Pharmacogenomics Variability of Lipid-Lowering Therapies in Familial Hypercholesterolemia.
Hindi NN et al.
Journal of Personalized Medicine, 2021
Limited-Variant Screening vs Comprehensive Genetic Testing for Familial Hypercholesterolemia Diagnosis.
Sturm AC et al.
Jama Cardiology, 2021
Homozygous Familial Hypercholesterolemia (HoFH) in Saudi Arabia and Two Cases of Lomitapide Use in a Real-World Setting.
Mahzari M et al.
Advances in Therapy, 2021
Saudi Familial Hypercholesterolemia Patients With Rare LDLR Stop Gain Variant Showed Variable Clinical Phenotype and Resistance to Multiple Drug Regimen.
Awan ZA et al.
Frontiers in Medicine, 2021
Xanthomas Can Be Misdiagnosed and Mistreated in Homozygous Familial Hypercholesterolemia Patients: A Call for Increased Awareness Among Dermatologists and Health Care Practitioners.
Alnouri F et al.
Global Heart, 2020
Recently reported familial hypercholesterolemia-related mutations from cases in the Middle East and North Africa region.
Awan ZA et al.
Current Opinion in Lipidology, 2019
In Silico Approach to Investigate the Structural and Functional Attributes of Familial Hypercholesterolemia Variants Reported in the Saudi Population.
Morad FA et al.
Journal of Computational Biology : a Journal of Computational Molecular Cell Biology, 2018
Role of Apolipoprotein E gene polymorphism in the risk of familial hypercholesterolemia: a case-control study.
Almigbal TH et al.
Acta Biochimica Polonica, 2018
Compound heterozygous LDLR variant in severely affected familial hypercholesterolemia patient.
Al-Allaf FA et al.
Acta Biochimica Polonica, 2017
The Spectrum of Familial Hypercholesterolemia (FH) in Saudi Arabia: Prime Time for Patient FH Registry.
Alallaf F et al.
The Open Cardiovascular Medicine Journal, 2017
Identification of a recurrent frameshift mutation at the LDLR exon 14 (c.2027delG, p.(G676Afs*33)) causing familial hypercholesterolemia in Saudi Arab homozygous children.
Al-Allaf FA et al.
Genomics, 2016