Dispatches from Biotech beginning <scp>BeginNGS</scp> : Rapid newborn genome sequencing to end the diagnostic and therapeutic odyssey-Reference-Cited by-同舟云学术

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Dispatches from Biotech beginning BeginNGS : Rapid newborn genome sequencing to end the diagnostic and therapeutic odyssey

Published:2022-06 Issue:2 Volume:190 Page:243-256
ISSN:1552-4868
Container-title:American Journal of Medical Genetics Part C: Seminars in Medical Genetics
language:en
Short-container-title:American J of Med Genetics Pt C

Author:

Kingsmore Stephen F.¹^ORCID,

Affiliation:

1. Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego California USA

Funder

Eunice Kennedy Shriver National Institute of Child Health and Human Development

National Center for Advancing Translational Sciences

Alexion Pharmaceuticals

Ultragenyx Pharmaceutical

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.c.32005

Reference56 articles.

1. The role of exome sequencing in newborn screening for inborn errors of metabolism

2. All of US. (2022).Data browser.https://databrowser.researchallofus.org/

3. OMIM.org: leveraging knowledge across phenotype–gene relationships

4. Revisting wilson and Jungner in the genomic age: a review of screening criteria over the past 40 years

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1. Wilson and Jungner Revisited: Are Screening Criteria Fit for the 21st Century?;International Journal of Neonatal Screening;2024-09-13

2. Feasibility and Acceptability of a Newborn Screening Program Using Targeted Next-Generation Sequencing in One Maternity Hospital in Southern Belgium;Children;2024-07-30

3. Genomic sequencing for newborn screening: current perspectives and challenges;Croatian Medical Journal;2024-06

4. Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020–2023);International Journal of Neonatal Screening;2024-05-23

5. Comparative analysis of gene and disease selection in genomic newborn screening studies;Journal of Inherited Metabolic Disease;2024-05-16

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