| Predicting candidate genes from phenotypes, functions and anatomical site of expression J Chen, A Althagafi, R Hoehndorf Bioinformatics 37 (6), 853-860, 2021 | 54 | 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 | 34 | 2020 |
| 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 | 16 | 2020 |
| DeepSVP: integration of genotype and phenotype for structural variant prioritization using deep learning A Althagafi, L Alsubaie, N Kathiresan, K Mineta, T Aloraini, F Al Mutairi, ... Bioinformatics 38 (6), 1677-1684, 2022 | 14 | 2022 |
| 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 | 6 | 2024 |
| Prioritizing genomic variants through neuro-symbolic, knowledge-enhanced learning A Althagafi, F Zhapa-Camacho, R Hoehndorf Bioinformatics 40 (5), btae301, 2024 | 3 | 2024 |
| 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 | 2 | 2023 |
| 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 |
| VSIM: Visualization and simulation of variants in personal genomes with an application to premarital testing A Althagafi, R Hoehndorf bioRxiv, 529461, 2019 | 1 | 2019 |
| CAGI6 ID-Challenge: Assessment of phenotype and variant predictions in 415 children with Neurodevelopmental Disorders (NDDs) MC Aspromonte, A Del Conte, S Zhu, W Tan, Y Shen, Y Zhang, Q Li, ... Research Square, 2023 | | 2023 |
| Prioritizing Causative Genomic Variants by Integrating Molecular and Functional Annotations from Multiple Biomedical Ontologies AT Althagafi | | 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 |
| Visualization and simulation of genomes AT Althagafi, R Hoehndorf US Patent App. 17/273,619, 2021 | | 2021 |
| bio-ontology-research-group/DeepSVP: Prioritizing Copy Number Variants (CNV) using Phenotype and Gene Functional Similarity AT Althagafi, L Alsubaie, N Kathiresan, K Mineta, T Aloraini, F Almutairi, ... Github, 2020 | | 2020 |
| Prioritizing Copy Number Variants using Phenotype and Gene Functional Similarity AT Althagafi, J Chen, N Kathiresan, R Hoehndorf | | 2020 |
| bio-ontology-research-group/VSIM: Visualization and simulation of variants in personal genomes with an application to premarital testing AT Althagafi, R Hoehndorf Github, 2019 | | 2019 |
| Visualization and Simulation of Variants in Personal Genomes With an Application to Premarital Testing (VSIM) AT Althagafi | | 2018 |
| CAGI 6 DB Center | | |
Robert HoehndorfKing Abdullah University of Science and TechnologyVerified email at kaust.edu.sa
