Data Sharing in the Undiagnosed Diseases Network-Reference-Cited by-同舟云学术

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Data Sharing in the Undiagnosed Diseases Network

Published:2015-08-27 Issue:10 Volume:36 Page:985-988
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Brownstein Catherine A.¹,Holm Ingrid A.¹,Ramoni Rachel²,Goldstein David B.³,

Affiliation:

1. Division of Genetics and Genomics and the Manton Center for Orphan Disease Research; Boston Children's Hospital; Boston Massachusetts

2. Center for Biomedical Informatics; Harvard Medical School; Boston Massachusetts

3. Columbia Institute for Genomic Medicine, Genetics and Development; New York New York

Funder

National Institutes of Health

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.22840/fullpdf

Reference6 articles.

1. An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge;Brownstein;Genome Biol,2014

2. Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway;Enns;Genet Med,2014

3. Might M 2012 http://matt.might.net/articles/my-sons-killer/

4. Genic intolerance to functional variation and the interpretation of personal genomes;Petrovski;PLoS Genet,2013

Cited by 21 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. Research and Clinical Approaches to Undiagnosed Rare Genetic Disorders;Rare Genetic Disorders;2024

2. From public resources to improving health: How genomic data sharing empowers science and medicine;Genomic Data Sharing;2023

3. Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA);Orphanet Journal of Rare Diseases;2022-05-23

4. Seven years since the launch of the Matchmaker Exchange: The evolution of genomic matchmaking;Human Mutation;2022-05-10

5. ModelMatcher: A scientist‐centric online platform to facilitate collaborations between stakeholders of rare and undiagnosed disease research;Human Mutation;2022-03-24

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