ArticleF1000Research2015
Repository of mutations from Oman: The entry point to a national mutation database.
Article in F1000Research, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
9 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Pooled it
- Genetic Diversity and Mutation Frequency Databases in Ethnic Populations: Systematic Review.JMIR bioinformatics and biotechnology · 2025Review
- Uptake of prenatal genetic diagnosis and termination of pregnancy by Omani Muslim families at risk of genetic disorders: experience over a 9-year period.Journal of community genetics · 2022Article
- Spondylo-ocular Syndrome Due to a Novel Variant inJournal of pediatric genetics · 2022Article
- A Novel SPINK5 Gene Mutation Associated with Netherton Syndrome in an Omani Patient.Sultan Qaboos University medical journal · 2021Article
- Clinical and genetic characteristics of autosomal recessive polycystic kidney disease in Oman.BMC nephrology · 2020Article
- Barriers and Considerations for Diagnosing Rare Diseases in Indigenous Populations.Frontiers in pediatrics · 2020Review
- A novel founder MYO15A frameshift duplication is the major cause of genetic hearing loss in Oman.Journal of human genetics · 2017Article
- Common disease-associated gene variants in a Saudi Arabian population.Annals of Saudi medicineArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
12 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The Sultanate of Oman is a rapidly developing Muslim country with well-organized government-funded health care services, and expanding medical genetic facilities. The preservation of tribal structures within the Omani population coupled with geographical isolation has produced unique patterns of rare mutations. In order to provide diagnosticians and researchers with access to an up-to-date resource that will assist them in their daily practice we collated and analyzed all of the Mendelian disease-associated mutations identified in the Omani population. By the 1 (st) of August 2015, the dataset contained 300 mutations detected in over 150 different genes. More than half of the data collected reflect novel genetic variations that were first described in the Omani population, and most disorders with known mutations are inherited in an autosomal recessive fashion. A number of novel Mendelian disease genes have been discovered in Omani nationals, and the corresponding mutations are included here. The current study provides a comprehensive resource of the mutations in the Omani population published in scientific literature or reported through service provision that will be useful for genetic care in Oman and will be a starting point for variation databases as next-generation sequencing technologies are introduced into genetic medicine in Oman.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.