DECIPHER: Supporting the interpretation and sharing of rare disease phenotype‐linked variant data to advance diagnosis and research-Reference-Cited by-同舟云学术

DECIPHER: Supporting the interpretation and sharing of rare disease phenotype‐linked variant data to advance diagnosis and research

Published:2022-02-21 Issue: Volume: Page:
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Foreman Julia¹^ORCID,Brent Simon¹^ORCID,Perrett Daniel¹^ORCID,Bevan Andrew P.¹^ORCID,Hunt Sarah E.²^ORCID,Cunningham Fiona²^ORCID,Hurles Matthew E.¹^ORCID,Firth Helen V.¹³^ORCID

Affiliation:

1. Human Genetics Programme, Wellcome Sanger Institute Wellcome Genome Campus Cambridge UK

2. European Molecular Biology Laboratory, European Bioinformatics Institute Wellcome Genome Campus Cambridge UK

3. Department of Medical Genetics, Cambridge University Hospitals NHS Foundation Trust Cambridge Biomedical Campus Cambridge UK

Funder

European Molecular Biology Laboratory

Publisher

Hindawi Limited

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24340

Reference59 articles.

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2. ALG13 X‐linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes

3. OMIM.org: leveraging knowledge across phenotype–gene relationships

4. matchbox: An open-source tool for patient matching via the Matchmaker Exchange

5. Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype

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