Last Posted: Jan 19, 2023
- Continuing a search for a diagnosis: the impact of adolescence and family dynamics.
Miller Ilana M et al. Orphanet journal of rare diseases 2023 18(1) 6 - A concurrent dual analysis of genomic data augments diagnoses: experiences of two clinical sites in the Undiagnosed Diseases Network.
Spillmann Rebecca C et al. Genetics in medicine : official journal of the American College of Medical Genetics 2022 - Genomic technologies to improve variation identification in undiagnosed diseases.
Shieh Joseph T C et al. Pediatrics and neonatology 2022 - Beyond race: Recruitment of diverse participants in clinical genomics research for rare disease.
Young Jennifer L et al. Frontiers in genetics 2022 13949422 - Diagnosis and Discovery: Insights from the NIH Undiagnosed Diseases Program.
Montano Carolina et al. Journal of inherited metabolic disease 2022 - A guide for the diagnosis of rare and undiagnosed disease: beyond the exome.
Marwaha Shruti et al. Genome medicine 2022 14(1) 23 - Perceived utility and disutility of genomic sequencing for pediatric patients: Perspectives from parents with diverse sociodemographic characteristics.
Halley Meghan C et al. American journal of medical genetics. Part A 2022 - Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria's Undiagnosed Diseases Program.
Cloney Thomas et al. Journal of medical genetics 2021 - Genetic counselor roles in the undiagnosed diseases network research study: Clinical care, collaboration, and curation.
Kohler Jennefer N et al. Journal of genetic counseling 2021 - Rare disease patient matchmaking: development and outcomes of an internet case-finding strategy in the Undiagnosed Diseases Network.
LeBlanc Kimberly et al. Orphanet journal of rare diseases 2021 16(1) 210
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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.