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Paediatric genomics: diagnosing rare disease in children

2018622 citationsReview

Authors

Caroline F. Wright · Royal Devon and Exeter Hospital

David Fitzpatrick · MRC Institute of Genetics and Molecular Medicine

Helen V. Firth · Wellcome Sanger Institute

Topics & Keywords

Genomics and Rare Diseases Genomic variations and chromosomal abnormalities Genetics and Neurodevelopmental Disorders

Publication Details

Published in: Nature Reviews Genetics

Volume 19, Issue 5, pp. 253-268

DOI: 10.1038/nrg.2017.116

Field-Weighted Citation Impact: 55.10

Paediatric genomics: diagnosing rare disease in children | Researchclopedia