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Principles of Genomic Newborn Screening Programs

Published:2021-07-20 Issue:7 Volume:4 Page:e2114336
ISSN:2574-3805
Container-title:JAMA Network Open
language:en
Short-container-title:JAMA Netw Open

Author:

Downie Lilian¹²,Halliday Jane¹²,Lewis Sharon¹²,Amor David J.¹²³⁴

Affiliation:

1. Murdoch Children’s Research Institute, Melbourne, Victoria, Australia

2. Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia

3. Royal Children’s Hospital, Melbourne, Victoria, Australia

4. Victorian Clinical Genetics Services, Melbourne, Victoria, Australia

Publisher

American Medical Association (AMA)

Subject

General Medicine

Link

https://jamanetwork.com/journals/jamanetworkopen/articlepdf/2782128/downie_2021_oi_210433_1626121205.58948.pdf

Reference59 articles.

1. Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases.;Clark;NPJ Genom Med,2018

2. Gene therapy of hemoglobinopathies: progress and future challenges.;Ikawa;Hum Mol Genet,2019

3. Sequencing newborns: a call for nuanced use of genomic technologies.;Johnston;Hastings Cent Rep,2018

4. Estimating the burden and economic impact of pediatric genetic disease.;Gonzaludo;Genet Med,2019

5. Revisiting Wilson and Jungner in the genomic age: a review of screening criteria over the past 40 years.;Andermann;Bull World Health Organ,2008

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1. Ethics of Screening;International Encyclopedia of Public Health;2025

2. The Modernisation of Newborn Screening as a Pan-European Challenge – An International Delphi Study;Health Policy;2024-09

3. Quality considerations and major pitfalls for high throughput DNA-based newborn screening for severe combined immunodeficiency and spinal muscular atrophy;PLOS ONE;2024-06-28

4. Newborn screening in Mexico and Latin America: present and future;Rare Disease and Orphan Drugs Journal;2024-06-24

5. Key informant perspectives on implementing genomic newborn screening: a qualitative study guided by the Action, Actor, Context, Target, Time framework;European Journal of Human Genetics;2024-06-21

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