Author

Emily Frost

Royal Brompton & Harefield NHS Foundation TrustORCID 0000-0001-7309-3402Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetics· 1

Signature Assays, Organisms & Methods

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Assay:bulk RNA-seq· 1 Research Focus:cell type annotation· 1 Research Focus:differential expression· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Organism:human· 1 Organism:mouse· 1 Organism:rat· 1

Frequent Co-Authors

Amelia ShoemarkiD· 1 shared Anne Fleury‐AubussoniD· 1 shared Anne‐Marie TassiniD· 1 shared Charlotte RichardsoniD· 1 shared Claire L. HoggiD· 1 shared David R. MitchelliD· 1 shared Eddie M.K. Chung· 1 shared France KolliD· 1 shared

Activity by Year

2017-2017 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperGenetics

Amelia ShoemarkORCID

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1 paper

Recent·Most cited

GeneticsbioRxivPreprintOct 31, 2017

C11orf70 mutations causing primary ciliary dyskinesia disrupt a conserved step in the intraflagellar transport-dependent assembly of multiple axonemal dyneins

Mahmoud R. Fassad, Amelia Shoemark, Pierrick le Borgne…·Hannah M. Mitchison

This study identifies C11orf70 mutations as a cause of primary ciliary dyskinesia, showing they disrupt IFT-dependent dynein arm assembly and cilia motility.

1 citation

humanmouse

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