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Frontiers in Genetics|June 1, 2022
HMG-CoA Lyase Deficiency: A Retrospective Study of 62 Saudi PatientsMajid Alfadhel, Basma Abadel, Hind Almaghthawi, 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.
European Journal of Medical Genetics|August 3, 2018
Renal tubular dysgenesis and microcolon, a novel association. Report of three casesAvi Saskin, Ahmed Alfares, Chantal Bernard, et al.
Life (Basel, Switzerland)|January 21, 2022
Two Novel Homozygous HPS6 Mutations (Double Mutant) Identified by Whole-Exome Sequencing in a Saudi Consanguineous Family Suspected for Oculocutaneous AlbinismSajjad Karim, Samah Saharti, Nofe Alganmi, et al.
Clinical Genetics|July 17, 2021
Short stature with low insulin-like growth factor 1 availability due to pregnancy-associated plasma protein A2 deficiency in a Saudi familyAmir Babiker, Khalid Al Noaim, Abdulrahman Al Swaid, 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.
Frontiers in Pediatrics|March 20, 2023
The diagnostic yield of CGH and WES in neurodevelopmental disordersRaniah S Alotibi, Naif S Sannan, Mariam AlEissa, et al.
Human Genetics|August 3, 2016
Mutation in SLC6A9 encoding a glycine transporter causes a novel form of non-ketotic hyperglycinemia in humansMajid Alfadhel, Marwan Nashabat, Hanan Al Qahtani, 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.
Annals of Human Genetics|June 14, 2020
Genomic testing and counseling: The contribution of next-generation sequencing to epilepsy geneticsLamia Alsubaie, Taghrid Aloraini, Manal Amoudi, et al.
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