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Annals of Saudi Medicine|April 5, 2022
Cut-off values in newborn screening for inborn errors of metabolism in Saudi ArabiaAdbul Rafiq Khan, Ali Alothaim, Ahmed Alfares, et al.
Genome Medicine|February 26, 2021
Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephalyWilliam L Macken, Annie Godwin, Gabrielle Wheway, et al.
Clinical Genetics|November 8, 2024
Genetic Analysis of Heterotaxy in a Consanguineous CohortMaarab Al-Korashy, Hadeel Binomar, Abeer Al-Mostafa, et al.
Orphanet Journal of Rare Diseases|October 12, 2021
Long-term effectiveness of carglumic acid in patients with propionic acidemia (PA) and methylmalonic acidemia (MMA): a randomized clinical trialMajid Alfadhel, Marwan Nashabat, Mohammed Saleh, et al.
Annals of Clinical and Translational Neurology|September 27, 2019
Targeted SLC19A3 gene sequencing of 3000 Saudi newborn: a pilot study toward newborn screeningMajid Alfadhel, Muhammad Umair, Bader Almuzzaini, et al.
Genetics in Medicine Open|June 16, 2025
Pharmacogenomic testing implementation: Tertiary care center experience and results of a pilot of 512 patientsDana Bakheet, Hana Al Alshaykh, Ghadi Askar, et al.
Prenatal Diagnosis|May 3, 2026
Transforming Prenatal Care in a Highly Inbred Population: Impact of a Multidisciplinary BoardAbdullah H Alfalah, Hamad Alzaidan, Ahmed Alfares, 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.
Frontiers in Pediatrics|May 31, 2021
The Leukodystrophy Spectrum in Saudi Arabia: Epidemiological, Clinical, Radiological, and Genetic DataMajid Alfadhel, Mohammed Almuqbil, Fuad Al Mutairi, et al.
European Journal of Human Genetics : EJHG|August 30, 2020
Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohortAida M Bertoli-Avella, Christian Beetz, Najim Ameziane, et al.
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