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Bioinformatics (Oxford, England)|October 14, 2020
Predicting candidate genes from phenotypes, functions and anatomical site of expressionJun Chen, Azza Althagafi, Robert Hoehndorf
Bioinformatics (Oxford, England)|May 2, 2024
Prioritizing genomic variants through neuro-symbolic, knowledge-enhanced learningAzza Althagafi, Fernando Zhapa-Camacho, Robert Hoehndorf
BMC Bioinformatics|July 21, 2023
Starvar: symptom-based tool for automatic ranking of variants using evidence from literature and genomesȘenay Kafkas, Marwa Abdelhakim, Mahmut Uludag, et al.
Scientific Reports|April 29, 2025
The application of Large Language Models to the phenotype-based prioritization of causative genes in rare disease patientsŞenay Kafkas, Marwa Abdelhakim, Azza Althagafi, et al.
Diagnostics (Basel, Switzerland)|October 16, 2025
Deep Learning-Based Mpox Skin Lesion Detection and Real-Time Monitoring in a Smart Healthcare SystemHuda Alghoraibi, Nuha Alqurashi, Sarah Alotaibi, et al.
Bioinformatics (Oxford, England)|December 24, 2021
DeepSVP: integration of genotype and phenotype for structural variant prioritization using deep learningAzza Althagafi, Lamia Alsubaie, Nagarajan Kathiresan, et al.
The Journal of Biological Chemistry|December 19, 2025
VarLand: A pipeline to map the structural landscape of missense variants at the proteome scaleFrancisco J Guzmán-Vega, Kelly J Cardona-Londoño, Ana C González-Álvarez, et al.
Scientific Data|November 23, 2024
A reference quality, fully annotated diploid genome from a Saudi individualMaxat Kulmanov, Rund Tawfiq, Yang Liu, et al.
BMC Medical Genomics|July 19, 2020
What is the right sequencing approach? Solo VS extended family analysis in consanguineous populationsAhmed Alfares, Lamia Alsubaie, Taghrid Aloraini, et al.
Research Square|August 14, 2023
CAGI6 ID-Challenge: Assessment of phenotype and variant predictions in 415 children with Neurodevelopmental Disorders (NDDs)Maria Cristina Aspromonte, Alessio Del Conte, Shaowen Zhu, et al.
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