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Saudi Journal of Medicine & Medical Sciences|November 14, 2024
Copy Number Variants in 30 Saudi Pediatric Patients with Neurodevelopmental Disorders: From Unknown Significance to DiagnosisRaniah Saleem Alotibi, Mariam M Al Eissa, Taghrid Aloraini, et al.
Frontiers in Genetics|October 6, 2023
Prospect of genetic disorders in Saudi ArabiaAmerh S Alqahtani, Raniah S Alotibi, Taghrid Aloraini, et al.
Annals of Human Genetics|May 14, 2020
MEFV c.2230G>T p.(Ala744Ser) rs61732874 previously misclassified as pathogenic variant due to lack of a population specific databaseLamia Alsubaie, Randa Alkhalaf, Taghrid Aloraini, 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.
Frontiers in Genetics|November 29, 2023
Reclassifying variations of unknown significance in diseases affecting Saudi Arabia's population reveal new associationsMariam M Al Eissa, Raniah S Alotibi, Bader Alhaddad, et al.
American Journal of Medical Genetics. Part A|September 13, 2021
The rate of secondary genomic findings in the Saudi populationTaghrid Aloraini, Lamia Alsubaie, Sarah Alasker, et al.
Annals of Saudi Medicine|February 3, 2022
Common disease-associated gene variants in a Saudi Arabian populationMariam Aleissa, Taghrid Aloraini, Lamia Fahad Alsubaie, et al.
Computers in Biology and Medicine|May 19, 2022
The variant artificial intelligence easy scoring (VARIES) systemTaghrid Aloraini, Abdulrhman Aljouie, Rashed Alniwaider, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 23, 2018
Whole-genome sequencing offers additional but limited clinical utility compared with reanalysis of whole-exome sequencingAhmed Alfares, Taghrid Aloraini, Lamia Al Subaie, et al.
Clinical Genetics|September 2, 2020
EMC10 homozygous variant identified in a family with global developmental delay, mild intellectual disability, and speech delayMuhammad Umair, Mariam Ballow, Abdulaziz Asiri, et al.
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