Author

Elizabeth J. Radford

Cambridge University Hospitals NHS Foundation TrustORCID 0000-0002-8336-6045Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Alice Hulbert· 1 shared Andrew Roger BassettiD· 1 shared Carla P. JonesiD· 1 shared Caroline Fiona WrightiD· 1 shared David R FitzPatrickiD· 1 shared Dhavendra Kumar· 1 shared Diana S. JohnsoniD· 1 shared Elena PrigmoreiD· 1 shared

Activity by Year

2018-2018 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperGenetics

Alice Hulbert

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1 paper

Recent·Most cited

Quantifying the contribution of recessive coding variation to developmental disorders

Hilary C. Martin, Wendy D. Jones, Rebecca E. McIntyre, Gabriela Sánchez-Andrade, Mark Sanderson, James D. Stephenson, Carla P. Jones, Juliet Handsaker, Giuseppe Gallone, Michaela Bianka Bruntraeger, Jeremy F. McRae, Elena Prigmore, Patrick Short, Mari Niemi, Joanna Kaplanis, , on behalf of the Deciphering Developmental Disorders Study

The paper estimates the contribution of recessive coding variants to developmental disorders using exome data from 7,448 families, finding low prevalence in European ancestry but higher in Pakistani ancestry.

Science · Nov 8, 2018Peer-reviewedGenetics