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Molecular Genetics and Metabolism Reports|June 4, 2026
POLG-related disorders: Clinical and molecular Spectrum in the Saudi populationFuad Al Mutairi, Faisal Joueidi, Ziyad A Al Mutairi, et al.
European Journal of Medical Genetics|September 1, 2022
COVID-19 in Unvaccinated patients with inherited metabolic disorders: A single center experienceRuqaiah Altassan, Raashda A Sulaiman, Abdullah Alfalah, et al.
Journal of Inherited Metabolic Disease|February 12, 2019
Clinical, biochemical, and molecular overview of transaldolase deficiency and evaluation of the endocrine function: Update of 34 patientsMonique Williams, Vassili Valayannopoulos, Ruqaiah Altassan, et al.
American Journal of Medical Genetics. Part A|March 23, 2017
Exome sequencing identifies novel NTRK1 mutations in patients with HSAN-IV phenotypeRuqaiah Altassan, Haya Al Saud, Tariq Ahmad Masoodi, et al.
Journal of Inherited Metabolic Disease|April 9, 2020
Consensus guideline for the diagnosis and management of mannose phosphate isomerase-congenital disorder of glycosylationAnna Čechová, Ruqaiah Altassan, Delphine Borgel, et al.
American Journal of Human Genetics|April 16, 2019
The Metabolic Map into the Pathomechanism and Treatment of PGM1-CDGSilvia Radenkovic, Matthew J Bird, Tim L Emmerzaal, et al.
Journal of Inherited Metabolic Disease|July 19, 2020
International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and managementRuqaiah Altassan, Silvia Radenkovic, Andrew C Edmondson, et al.
Journal of Human Immunity|June 1, 2026
Human germline biallelic loss-of-function OSMR variants cause severe allergic diseaseSimran Samra, Mehul Sharma, Julia Körholz, et al.
Journal of Inherited Metabolic Disease|February 12, 2019
International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow upRuqaiah Altassan, Romain Péanne, Jaak Jaeken, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 11, 2026
High Throughput Evidence Generation to Support Tentative Gene Disease Relationship from A Cohort Enriched for Autozygosity and Founder EffectKhadijah Bakur, Bader Alhaddad, Ali Balubaid, et al.
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