Variants of uncertain significance in newborn screening disorders: implications for large-scale genomic sequencing-Reference-Cited by-同舟云学术

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Variants of uncertain significance in newborn screening disorders: implications for large-scale genomic sequencing

Published:2017-01 Issue:1 Volume:19 Page:77-82
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

Narravula Alekhya,Garber Kathryn B.,Askree S. Hussain,Hegde Madhuri,Hall Patricia L.

Publisher

Elsevier BV

Subject

Genetics (clinical)

Link

http://www.nature.com/articles/gim201667.pdf

Reference35 articles.

Cited by 30 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Future of Dutch NGS-Based Newborn Screening: Exploring the Technical Possibilities and Assessment of a Variant Classification Strategy;International Journal of Neonatal Screening;2024-03-07

2. Exploring the genetic landscape of neurotransmitter alterations in hypoxic-ischemic encephalopathy: A personalized medicine perspective;F1000Research;2023-11-08

3. Specifications of the ACMG/AMP guidelines for ACADVL variant interpretation;Molecular Genetics and Metabolism;2023-11

4. Parental Preferences for Expanded Newborn Screening: What Are the Limits?;Children;2023-08-09

5. Utility of Whole Genome Sequencing for Population Screening of Deafness-Related Genetic Variants and Cytomegalovirus Infection in Newborns;Frontiers in Genetics;2022-04-29

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