Last Posted: Jan 14, 2021
- A charitable access program for patients with lysosomal storage disorders in underserved communities worldwide.
Mehta Atul et al. Orphanet journal of rare diseases 2021 Jan 16(1) 8
- Barriers and Considerations for Diagnosing Rare Diseases in Indigenous Populations.
D'Angelo Carla S et al. Frontiers in pediatrics 2020 8579924
- Diagnostic power and clinical impact of exome sequencing in a cohort of 500 patients with rare diseases.
Quaio Caio Robledo D'Angioli Costa et al. American journal of medical genetics. Part C, Seminars in medical genetics 2020 Nov
- An international telemedicine program for diagnosis of genetic disorders: Partnership of pediatrician and geneticist.
Mena Rafael et al. American journal of medical genetics. Part C, Seminars in medical genetics 2020 Nov
- Clinical and genetic characteristics and prenatal diagnosis of patients presented GDD/ID with rare monogenic causes.
Lin Liling et al. Orphanet journal of rare diseases 2020 Nov 15(1) 317
- SARS-CoV-2 infection in a patient with propionic acidemia.
Caciotti Anna et al. Orphanet journal of rare diseases 2020 Oct 15(1) 306
- Cost-effectiveness analysis of using the TBX6-associated congenital scoliosis risk score (TACScore) in genetic diagnosis of congenital scoliosis.
Chen Zefu et al. Orphanet journal of rare diseases 2020 Sep 15(1) 250
- Genetic testing offer for inherited neuromuscular diseases within the EURO-NMD reference network: A European survey study.
Peterlin Borut et al. PloS one 2020 15(9) e0239329
- Conversion of individuals at risk for spinocerebellar ataxia types 1, 2, 3, and 6 to manifest ataxia (RISCA): a longitudinal cohort study.
Jacobi Heike et al. The Lancet. Neurology 2020 Sep 19(9) 738-747
- Curative gene therapies for rare diseases.
Maldonado Rocio et al. Journal of community genetics 2020 Aug
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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.