Author

Pierrick le Borgne

Centre National de la Recherche Scientifique

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

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Genetics· 1

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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 Emily FrostiD· 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

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, France Koll, Mitali Patel, Mellisa Dixon, Jane D. Hayward, Charlotte Richardson, Emily Frost, Lucy Jenkins, Thomas Cullup, Eddie M.K. Chung, Michel Lemullois, Anne Fleury‐Aubusson, Claire L. Hogg, , 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.

bioRxiv · Oct 31, 2017 · PreprintGenetics