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Marwa Abdelhakim
Marwa Abdelhakim
Verified email at kaust.edu.sa
Title
Cited by
Cited by
Year
Phenotypic and molecular spectrum of pyridoxamine‐5′‐phosphate oxidase deficiency: a scoping review of 87 cases of pyridoxamine‐5′‐phosphate oxidase deficiency
M Alghamdi, FA Bashiri, M Abdelhakim, N Adly, DZ Jamjoom, KM Sumaily, ...
Clinical Genetics 99 (1), 99-110, 2021
372021
EMC10 homozygous variant identified in a family with global developmental delay, mild intellectual disability, and speech delay
M Umair, M Ballow, A Asiri, Y Alyafee, A Al Tuwaijri, KM Alhamoudi, ...
Clinical Genetics 98 (6), 555-561, 2020
302020
Combining lexical and context features for automatic ontology extension
S Althubaiti, Ş Kafkas, M Abdelhakim, R Hoehndorf
Journal of biomedical semantics 11, 1-13, 2020
232020
PathoPhenoDB, linking human pathogens to their phenotypes in support of infectious disease research
Ş Kafkas, M Abdelhakim, Y Hashish, M Kulmanov, M Abdellatif, ...
Scientific data 6 (1), 79, 2019
212019
What is the right sequencing approach? Solo VS extended family analysis in consanguineous populations
A Alfares, L Alsubaie, T Aloraini, A Alaskar, A Althagafi, A Alahmad, ...
BMC medical genomics 13, 1-8, 2020
152020
DDIEM: drug database for inborn errors of metabolism
M Abdelhakim, E McMurray, AR Syed, S Kafkas, AA Kamau, PN Schofield, ...
Orphanet Journal of Rare Diseases 15, 1-12, 2020
142020
Diversity of phenotype and genetic etiology of 23 cystinuria Saudi patients: a retrospective study
M Alghamdi, KA Alhasan, A Taha Elawad, S Salim, M Abdelhakim, ...
Frontiers in Pediatrics 8, 569389, 2020
142020
Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project
SL Stenton, MC O’Leary, G Lemire, GE VanNoy, S DiTroia, VS Ganesh, ...
Human Genomics 18 (1), 44, 2024
32024
Starvar: symptom-based tool for automatic ranking of variants using evidence from literature and genomes
Ș Kafkas, M Abdelhakim, M Uludag, A Althagafi, M Alghamdi, ...
BMC bioinformatics 24 (1), 294, 2023
22023
The application of Large Language Models to the phenotype-based prioritization of causative genes in rare disease patients
Ş Kafkas, M Abdelhakim, A Althagafi, S Toonsi, M Alghamdi, PN Schofield, ...
medRxiv, 2023.11. 16.23298615, 2023
2023
A personal, reference quality, fully annotated genome from a Saudi individual
M Kulmanov, R Tawfiq, H Al Ali, M Abdelhakim, M Alarawi, H Aldakhil, ...
bioRxiv, 2022.11. 05.515129, 2022
2022
bio-ontology-research-group/KSA001: Telomere-2-Telomere Genome from Saudi Arabia
M Kulmanov, R Tawfiq, H Al Ali, M Abdelhakim, M Alarawi, H Aldakhil, ...
Github, 2022
2022
bio-ontology-research-group/STARVar: STARVar: Symptom based Tool for Automatic Ranking of Variants using evidence from literature and genomes
S Kafkas, M Abdelhakim, M Uludag, AT Althagafi, M Alghamdi, ...
Github, 2022
2022
Phenotypic and molecular spectrum of pyridoxamine-5'-phosphate oxidase (PNPO) deficiency: a scoping review of 87 cases of PNPO deficiency.
M Alghamdi, FA Bashiri, M Abdelhakim, N Adly, DZ Jamjoom, KM Sumaily, ...
Wiley, 2020
2020
senay_pathophenoDB_slides. pdf
Ş Kafkas, M Abdelhakim, M Kulmanov, M Abdellatif, P Shofield, ...
Semantic Web Applications and Tools for Healthcare and Life Sciences, 2018
2018
bio-ontology-research-group/ontology-extension: Combining lexical and context features for automatic ontology extension
S Althubaiti, S Kafkas, M Abdelhakim, R Hoehndorf
Github, 2018
2018
bio-ontology-research-group/pathophenodb: Web application and additional content for PathoPhenoDB
S Kafkas, M Abdelhakim, Y Hashish, M Kulmanov, M Abdellatif, ...
Github, 2017
2017
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Articles 1–17