Last Posted: Sep 17, 2021
- Addressing the Needs of Patients with Ultra-Rare Mutations One Patient at a Time: The n-Lorem Approach.
Crooke Stanley T et al. Nucleic acid therapeutics 2021
- Muscular Dystrophy
- Myotonic Dystrophy at a Glance
Myotonic Dystrophy Foundation, September 15,2021
- Myotonic Dystrophy
- Characterization of epidemiological distribution and outcome of COVID-19 in patients with hereditary hemorrhagic telangiectasia: a nationwide retrospective multi-centre study during first wave in Italy.
Suppressa Patrizia et al. Orphanet journal of rare diseases 2021 16(1) 378
- Clinical trials for genetic diseases in Latin America.
Poswar Fabiano de Oliveira et al. American journal of medical genetics. Part C, Seminars in medical genetics 2021
- Finding a genomic cause: The clinician's role
Genomics Education Program, UK, 2021
- Clinical trials in skeletal dysplasia: a paradigm for treating rare diseases.
Sabir Ataf et al. British medical bulletin 2021
- Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosis
Z Hyder et al, Genet Med, August 25, 2021
- Continuing the sequence? Towards an economic evaluation of whole genome sequencing for the diagnosis of rare diseases in Scotland.
Abbott Michael et al. Journal of community genetics 2021
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Disclaimer: Articles listed in the Public Health Genomics and Precision Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.