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Orphanet Journal of Rare Diseases|September 16, 2016
Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi ArabiaMajid Alfadhel, Mohammed Benmeakel, Mohammad Arif Hossain, et al.Journal of Inherited Metabolic Disease|January 15, 2013
Transaldolase deficiency: report of 12 new cases and further delineation of the phenotypeWafaa Eyaid, Talal Al Harbi, Shamsa Anazi, et al.JIMD Reports|October 6, 2017
Clinical, Biochemical, and Molecular Features in 37 Saudi Patients with Very Long Chain Acyl CoA Dehydrogenase DeficiencyAbdulrahman Obaid, Marwan Nashabat, Majid Alfadhel, et al.JIMD Reports|February 10, 2015
Asparagine Synthetase Deficiency: New Inborn Errors of MetabolismMajid Alfadhel, Muhammad Talal Alrifai, Daniel Trujillano, et al.Frontiers in Genetics|June 1, 2022
HMG-CoA Lyase Deficiency: A Retrospective Study of 62 Saudi PatientsMajid Alfadhel, Basma Abadel, Hind Almaghthawi, et al.Human Genetics|April 5, 2003
A novel dysmorphic syndrome with open calvarial sutures and sutural cataracts maps to chromosome 14q13-q21Simeon A Boyadjiev, Cristina M Justice, Wafaa Eyaid, et al.Human Mutation|April 27, 2004
Novel mutations in the TRIM37 gene in Mulibrey NanismRiikka H Hämäläinen, Kristiina Avela, Julie A Lambert, 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.Nature Genetics|September 19, 2006
Cranio-lenticulo-sutural dysplasia is caused by a SEC23A mutation leading to abnormal endoplasmic-reticulum-to-Golgi traffickingSimeon A Boyadjiev, J Christopher Fromme, Jin Ben, et al.Orphanet Journal of Rare Diseases|June 8, 2013
Biotin-responsive basal ganglia disease should be renamed biotin-thiamine-responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of 18 new casesMajid Alfadhel, Makki Almuntashri, Raafat H Jadah, et al.Pageof 7