An online compendium of treatable genetic disorders-Reference-Cited by-同舟云学术

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An online compendium of treatable genetic disorders

Published:2020-12-22 Issue:1 Volume:187 Page:48-54
ISSN:1552-4868
Container-title:American Journal of Medical Genetics Part C: Seminars in Medical Genetics
language:en
Short-container-title:Am J Med Genet

Author:

Bick David¹^ORCID,Bick Sarah L.²,Dimmock David P.³,Fowler Tom A.⁴⁵,Caulfield Mark J.⁴⁵,Scott Richard H.⁴⁶

Affiliation:

1. HudsonAlpha Institute for Biotechnology Huntsville Alabama USA

2. Nemours/Alfred I. duPont Hospital for Children Wilmington Delaware USA

3. Rady Children's Institute for Genomic Medicine San Diego California USA

4. Genomics England Ltd. London UK

5. William Harvey Research Institute Queen Mary University of London London UK

6. Department of Clinical Genetics Great Ormond Street Hospital for Children National Health Service (NHS) Foundation Trust London UK

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.c.31874

Reference27 articles.

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

2. International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases

3. Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project

4. Should states adopt newborn screening for early infantile Krabbe disease?

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1. Rare disease diagnosis using knowledge guided retrieval augmentation for ChatGPT;Journal of Biomedical Informatics;2024-09

2. Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings;Nature Genetics;2024-07-22

3. The Multi-Omic Approach to Newborn Screening: Opportunities and Challenges;International Journal of Neonatal Screening;2024-06-21

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

5. Gene selection for genomic newborn screening: Moving toward consensus?;Genetics in Medicine;2024-05

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