| 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 | 35 | 2021 |
| 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 | 30 | 2020 |
| 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 | 22 | 2020 |
| 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 | 20 | 2019 |
| 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 | 15 | 2020 |
| 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 | 14 | 2020 |
| 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 | 14 | 2020 |
| 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), 1-25, 2024 | 3 | 2024 |
| 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 | 2 | 2023 |
| 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 |
