Publications by authors named "Ann-Marie Davison"
Development of an online registry for adults with arthrogryposis multiplex congenita: A protocol paper.
Am J Med Genet C Semin Med Genet
September 2019
Arthrogryposis multiplex congenita (AMC) is considered a rare disorder resulting in multiple congenital contractures in two or more areas. Considerable literature is available on managing the contractures during an affected child's development but little information is available to those managing these ongoing issues in adulthood. Due to the heterogeneity etiological factors and presentation of AMC, and the small sample sizes of previous studies, it has been difficult to generalize results to the adult population.
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- This study focuses on identifying essential genes in the organism Caenorhabditis elegans, which are crucial for development and linked to various human diseases.
- Researchers utilized whole genome sequencing on mutant strains to find mutations responsible for lethality, successfully identifying 64 essential genes characterized by various mutation types.
- The findings provide a valuable genetic resource for further research on essential gene functions, contributing to our understanding of development and potential implications for human health.