Mariam M. AlEissa
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View article: Serological Response to COVID-19 Vaccination in Saudi Arabia: A Comparative Study of IgG and Neutralising Antibodies Across Vaccine Platforms
Serological Response to COVID-19 Vaccination in Saudi Arabia: A Comparative Study of IgG and Neutralising Antibodies Across Vaccine Platforms Open
Background: In the Kingdom of Saudi Arabia, various COVID-19 vaccines were administered during the pandemic. However, region-specific real-word comparative data on their immunogenicity remain limited. This study aimed to assess the serolog…
View article: The Saudi National Policy and Protocol for Epidermolysis Bullosa
The Saudi National Policy and Protocol for Epidermolysis Bullosa Open
This protocol's objective is to offer evidence-based suggestions for the identification, treatment, and management of epidermolysis bullosa (EB) in Saudi Arabia. EB is a rare genetic condition that results in blistering and skin fragility.…
View article: Non-Invasive Prenatal Testing in the Kingdom of Saudi Arabia: Current Status of Adoption and Roadmap for the Future
Non-Invasive Prenatal Testing in the Kingdom of Saudi Arabia: Current Status of Adoption and Roadmap for the Future Open
A structured, phased roadmap for implementing NIPT in Saudi Arabia is crucial to ensure cost-effectiveness, cultural and ethical appropriateness, and nationwide access for all pregnant women.
View article: National strategies for screening neural tube defects in Saudi Arabia: activating prevention and early intervention
National strategies for screening neural tube defects in Saudi Arabia: activating prevention and early intervention Open
Background Neural tube defects (NTDs) are serious congenital anomalies affecting the brain and spinal cord. Despite widespread folic acid supplementation and food fortification programs, regions such as Saudi Arabia have not experienced a …
View article: A review of methods and software for polygenic risk score analysis
A review of methods and software for polygenic risk score analysis Open
Polygenic risk scores (PRSs) are emerging as powerful tools for predicting individual susceptibility to various diseases and traits based on genetic variants. These scores integrate information from multiple genetic markers associated with…
View article: Genetics and Clinical Findings Associated with Early-Onset Myopia and Retinal Detachment in Saudi Arabia
Genetics and Clinical Findings Associated with Early-Onset Myopia and Retinal Detachment in Saudi Arabia Open
Autosomal recessive types of both syndromic and non-syndromic inherited myopia are common in Saudi Arabia (SA) because many people marry their relatives. The prevalence of syndromic myopathies in SA, like Stickler syndrome (SS), Knobloch s…
View article: Advances in Precision Therapeutics and Gene Therapy Applications for Retinal Diseases: Impact and Future Directions
Advances in Precision Therapeutics and Gene Therapy Applications for Retinal Diseases: Impact and Future Directions Open
Gene therapy has emerged as a promising treatment for several eye diseases since it may restore vision and stop blindness. Many eye diseases, including retinitis pigmentosa and macular degeneration, have historically been rather difficult …
View article: Bipolar Disorders in Saudi Arabia: What Do We Know So Far?
Bipolar Disorders in Saudi Arabia: What Do We Know So Far? Open
Bipolar disorders (BP) are prevalent neuropsychiatric illnesses affecting 1%–5% of the global population and about 3% of the Saudi population. They are associated with significant comorbidities and negative consequences. Despite being comm…
View article: Machine learning-driven polygenic risk scores for bipolar disorder, depression, and panic disorder
Machine learning-driven polygenic risk scores for bipolar disorder, depression, and panic disorder Open
Polygenic Risk Score (PRS) is a computational tech- nique that uses various genomic data to simultaneously analyze an individ- ual’s genetic risk for particular illnesses or traits. However, the traditional PRS computation has a few weakne…
View article: The diagnostic yield of CGH and WES in neurodevelopmental disorders
The diagnostic yield of CGH and WES in neurodevelopmental disorders Open
Background Neurodevelopmental disorders are a group of conditions characterized by developmental delays leading to abnormal brain functions. The methods of diagnosis and treatment of these conditions are complicated, and their treatment in…
View article: THE GENETIC IDENTIFICATION OF COMMON PATHOGENIC VARIANTS IN THE SAUDI ARABIAN POPULATION
THE GENETIC IDENTIFICATION OF COMMON PATHOGENIC VARIANTS IN THE SAUDI ARABIAN POPULATION Open
The most prevalent pathogenic variations carried in the Saudi population, with the MAF obtained from Saudi Human Genome Project database SHGP db and the KGD, compared to the GnomAD.
View article: Common disease-associated gene variants in a Saudi Arabian population
Common disease-associated gene variants in a Saudi Arabian population Open
BACKGROUND: Screening programs for the most prevalent conditions occurring in a country is an evidence-based prevention strategy. The burden of autosomal recessive disease variations in Saudi Arabia is high because of the highly consanguin…
View article: GENETIC ASSOCIATION AND FUNCTIONAL CHARACTERIZATION OF A VARIANT IN THE MCPH1 GENE IN BIPOLAR DISORDER AND SCHIZOPHRENIA
GENETIC ASSOCIATION AND FUNCTIONAL CHARACTERIZATION OF A VARIANT IN THE MCPH1 GENE IN BIPOLAR DISORDER AND SCHIZOPHRENIA Open