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Conference item : Abstract

Evaluating the performance of a clinical genome sequencing programme for diagnosis of rare genetic disease, seen through the lens of craniosynostosis

Publication status:
Published

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Publisher copy:
10.1038/s41431-021-01025-2

Authors


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Institution:
University of Oxford
Division:
MSD
Department:
RDM
Sub department:
Weatherall Insti. of Molecular Medicine
Oxford college:
Exeter College
Role:
Author
ORCID:
0000-0003-1396-3765
More by this author
Institution:
University of Oxford
Division:
MSD
Department:
RDM
Sub department:
Weatherall Insti. of Molecular Medicine
Role:
Author
ORCID:
0000-0001-6399-6528
More by this author
Institution:
University of Oxford
Division:
MSD
Department:
RDM
Sub department:
Weatherall Insti. of Molecular Medicine
Oxford college:
Jesus College
Role:
Author
More by this author
Institution:
University of Oxford
Division:
MSD
Department:
RDM
Sub department:
RDM Clinical Laboratory Sciences
Oxford college:
Christ Church
Role:
Author
ORCID:
0000-0001-5024-049X


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Funder identifier:
https://ror.org/029chgv08
Grant:
102731/Z/13/Z
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Funder identifier:
https://ror.org/03x94j517
Grant:
MR/T031670/1
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Funder identifier:
https://ror.org/010derh63


Publisher:
Springer Nature
Journal:
European Journal of Human Genetics More from this journal
Volume:
30
Issue:
S1
Pages:
51-52
Publication date:
2022-04-08
Acceptance date:
2021-03-25
Event title:
54th European Society of Human Genetics Conference (ESHG 2022)
Event location:
Vienna, Austria
Event website:
https://2022.eshg.org/
Event start date:
2022-06-11
Event end date:
2022-06-14
DOI:
EISSN:
1476-5438
ISSN:
1018-4813


Language:
English
Subtype:
Abstract
Pubs id:
1256368
Local pid:
pubs:1256368
Deposit date:
2024-08-05

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