Perspectives of Rare Disease Experts on Newborn Genome Sequencing

IMPORTANCE: Newborn genome sequencing (NBSeq) can detect infants at risk for treatable disorders currently undetected by conventional newborn screening. Despite broad stakeholder support for NBSeq, the perspectives of rare disease experts regarding which diseases should be screened have not been asc...

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Detalles Bibliográficos
Autores principales: Gold, Nina B., Adelson, Sophia M., Shah, Nidhi, Williams, Shardae, Bick, Sarah L., Zoltick, Emilie S., Gold, Jessica I., Strong, Alanna, Ganetzky, Rebecca, Roberts, Amy E., Walker, Melissa, Holtz, Alexander M., Sankaran, Vijay G., Delmonte, Ottavia, Tan, Weizhen, Holm, Ingrid A., Thiagarajah, Jay R., Kamihara, Junne, Comander, Jason, Place, Emily, Wiggs, Janey, Green, Robert C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Medical Association 2023
Materias:
Original Investigation
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10167563/
https://www.ncbi.nlm.nih.gov/pubmed/37155167
http://dx.doi.org/10.1001/jamanetworkopen.2023.12231

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