Author

Lucy Jenkins

Great Ormond Street Hospital

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

Biology Disciplines

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Genetics· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 2 Organism:human· 2 Approach:statistical model· 2 Assay:bulk RNA-seq· 1 Research Focus:cell type annotation· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Organism:mouse· 1

Frequent Co-Authors

Amelia ShoemarkiD· 1 shared Andrey N. Gagunashvili· 1 shared Anne Fleury‐AubussoniD· 1 shared Anne‐Marie TassiniD· 1 shared Charlotte RichardsoniD· 1 shared Chiara Bacchelli· 1 shared Claire L. HoggiD· 1 shared David R. MitchelliD· 1 shared

Activity by Year

2017-2018 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 29 mutual co-author links

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1 shared paperGenetics

Amelia ShoemarkORCID

Mutual co-authors in cluster

Author profile →

2 papers

Recent·Most cited

Rapid Paediatric Sequencing (RaPS): Comprehensive real-life workflow for rapid diagnosis of critically ill children

Lamia Mestek, Emma M. Clement, Wendy D. Jones, Suzanne Drury, Louise Ocaka, Andrey N. Gagunashvili, Polona Le Quesne Stabej, Chiara Bacchelli, Nital Jani, Shamima Rahman, Lucy Jenkins, Jane A. Hurst, Maria A. K. Bitner-Glindzicz, Mark John Peters, Philip L. Beales, Hywel J. Williams

Rapid Paediatric Sequencing (RaPS) provides a workflow for rapid whole genome sequencing in critically ill children, achieving a 42% diagnostic rate with results available in as few as four days.

Journal of Medical Genetics · Jul 26, 2018Peer-reviewedGenomics

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