Last Posted: Aug 13, 2020
- Onset features and time to diagnosis in Friedreich's Ataxia.
Indelicato Elisabetta et al. Orphanet journal of rare diseases 2020 Aug 15(1) 198
- Partially automated whole-genome sequencing reanalysis of previously undiagnosed pediatric patients can efficiently yield new diagnoses
KN James et al NPJ Genomic Medicine, August 11, 2020
- Rare Diseases and COVID-19
CDC COVID-19 Genomics and Precision Health Portal, August 2020
- Copy number variations in candidate genomic regions confirm genetic heterogeneity and parental bias in Hirschsprung disease.
Lantieri Francesca et al. Orphanet journal of rare diseases 2019 14(1) 270
- Rare diseases in Chile: challenges and recommendations in universal health coverage context.
Encina Gonzalo et al. Orphanet journal of rare diseases 2019 14(1) 289
- Treatment needs and expectations for Fabry disease in France: development of a new Patient Needs Questionnaire.
Noël Esther et al. Orphanet journal of rare diseases 2019 14(1) 284
- Clinician-centric diagnosis of rare genetic diseases: performance of a gene pertinence metric in decision support for clinicians.
Segal Michael M et al. Orphanet journal of rare diseases 2020 Jul 15(1) 191
- Current management of transition of young people affected by rare renal conditions in the ERKNet.
Kreuzer Martin et al. European journal of human genetics : EJHG 2019 27(12) 1783-1790
- Rare disease in Malaysia: Challenges and solutions.
Shafie Asrul Akmal et al. PloS one 2020 15(4) e0230850
- Publication of data collection forms from NHLBI funded sickle cell disease implementation consortium (SCDIC) registry.
Glassberg Jeffrey A et al. Orphanet journal of rare diseases 2020 Jul 15(1) 178
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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.