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Scaling genetic resources: New paradigms for diagnosis and treatment of rare genetic disease

  • Published:2022-11-30 Issue:1 Volume:193 Page:77-86
  • 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:

Vockley Jerry1ORCID,Defay Thomas2ORCID,Goldenberg Aaron J.3ORCID,Gaviglio Amy M.4ORCID

Affiliation:

1. University of Pittsburgh Schools of Medicine and Public Health Pittsburgh Pennsylvania USA

2. Alexion AstraZeneca Rare Diseases Boston Massachusetts USA

3. Case Western Reserve University School of Medicine Cleveland Ohio USA

4. Connetics Consulting Minneapolis Minnesota USA

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Cited by 4 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. The treatment of biochemical genetic diseases: From substrate reduction to nucleic acid therapies;Molecular Genetics and Metabolism;2023-11

2. Newborn sequencing is only part of the solution for better child health;The Lancet Regional Health - Americas;2023-09

3. Note from the editors;American Journal of Medical Genetics Part C: Seminars in Medical Genetics;2023-03

4. Moving away from one disease at a time: Screening, trial design, and regulatory implications of novel platform technologies;American Journal of Medical Genetics Part C: Seminars in Medical Genetics;2023-02-04
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