Marwa Abdelhakim

Thuwal, Saudi Arabia

Last Updated: 09/26/2026

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Found 14 publications

Genomic diversity and antimicrobial resistance of Staphylococcus aureus in Saudi Arabia: a nationwide study using whole-genome sequencing.

Genomic diversity and antimicrobial resistance of Staphylococcus aureus in Saudi Arabia: a nationwide study using whole-genome sequencing.

Journal: Microbial genomics

Published: November 12, 2025

Phased genome assemblies and pangenome graphs of human populations of Japan and Saudi Arabia.

Phased genome assemblies and pangenome graphs of human populations of Japan and Saudi Arabia.

Journal: Scientific data

Published: January 02, 2025

A reference quality, fully annotated diploid genome from a Saudi individual.

A reference quality, fully annotated diploid genome from a Saudi individual.

Journal: Scientific data

Published: June 28, 2024

The application of Large Language Models to the phenotype-based prioritization of causative genes in rare disease patients.

The application of Large Language Models to the phenotype-based prioritization of causative genes in rare disease patients.

Journal: Scientific reports

Published: June 25, 2024

Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project.

Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project.

Journal: medRxiv : the preprint server for health sciences

Published: August 14, 2023

Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project.

Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project.

Journal: Human genomics

Published: August 11, 2023

Starvar: symptom-based tool for automatic ranking of variants using evidence from literature and genomes.

Starvar: symptom-based tool for automatic ranking of variants using evidence from literature and genomes.

Journal: BMC bioinformatics

Published: May 10, 2022

EMC10 homozygous variant identified in a family with global developmental delay, mild intellectual disability, and speech delay.

EMC10 homozygous variant identified in a family with global developmental delay, mild intellectual disability, and speech delay.

Journal: Clinical genetics

Published: July 15, 2020

Diversity of Phenotype and Genetic Etiology of 23 Cystinuria Saudi Patients: A Retrospective Study.

Diversity of Phenotype and Genetic Etiology of 23 Cystinuria Saudi Patients: A Retrospective Study.

Journal: Frontiers in pediatrics

Published: June 03, 2020

Phenotypic and molecular spectrum of pyridoxamine-5'-phosphate oxidase deficiency: A scoping review of 87 cases of pyridoxamine-5'-phosphate oxidase deficiency.

Phenotypic and molecular spectrum of pyridoxamine-5'-phosphate oxidase deficiency: A scoping review of 87 cases of pyridoxamine-5'-phosphate oxidase deficiency.

Journal: Clinical genetics

Published: May 19, 2020

DDIEM: drug database for inborn errors of metabolism.

DDIEM: drug database for inborn errors of metabolism.

Journal: Orphanet journal of rare diseases

Published: January 19, 2020

What is the right sequencing approach? Solo VS extended family analysis in consanguineous populations.

What is the right sequencing approach? Solo VS extended family analysis in consanguineous populations.

Journal: BMC medical genomics

Published: May 08, 2019

Showing 1-12 of 14

Last Updated: 09/26/2026