Last Posted: Jun 21, 2022
- Expanded newborn bloodspot screening: developed country examples and what can be done in Turkey.
Fidan Çaglar et al. Intractable & rare diseases research 2022 11(2) 63-69
- A lack of race and ethnicity data in the treatment of hereditary hemorrhagic telangiectasia: a systematic review of intravenous bevacizumab efficacy.
Galiatsatos Panagis et al. Orphanet journal of rare diseases 2022 17(1) 220
- Estimating the Prevalence of Rare Diseases: Long-Chain Fatty Acid Oxidation Disorders as an Illustrative Example.
Kruger Eliza et al. Advances in therapy 2022
- The Interdisciplinary Diagnosis of Rare Diseases-Results of the Translate-NAMSE Project.
Rillig Franziska et al. Deutsches Arzteblatt international 2022 (Forthcoming)
- Towards Achieving Equity and Innovation in Newborn Screening across Europe.
Sikonja Jaka et al. International journal of neonatal screening 2022 8(2)
- Comparing genome sequencing technologies to improve rare disease diagnostics: a protocol for the evaluation of a pilot project, Genome-wide Sequencing Ontario.
Hayeems Robin Z et al. CMAJ open 2022 10(2) E460-E465
- Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA).
Schuermans Nika et al. Orphanet journal of rare diseases 2022 17(1) 210
- Recommendations for whole genome sequencing in diagnostics for rare diseases.
Souche Erika et al. European journal of human genetics : EJHG 2022
- Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases.
Bullich Gemma et al. The Journal of molecular diagnostics : JMD 2022 24(5) 529-542
- Efficacy, safety and cost of gene therapy medicinal products in the U.S. and Europe.
Balkhi Bander et al. Drugs of today (Barcelona, Spain : 1998) 2022 58(5) 223-240
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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.