Author

Claire L. Hogg

Royal Brompton HospitalORCID 0000-0002-8368-5994Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2 Genetics· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 3 Organism:human· 3 Organism:mouse· 2 Assay:bulk RNA-seq· 1 Research Focus:cell type annotation· 1 Research Focus:differential expression· 1 Research Focus:gene regulatory network inference· 1 Organism:rat· 1

Frequent Co-Authors

Amelia ShoemarkiD· 2 shared Hannah M. MitchisoniD· 2 shared Mahmoud R. FassadiD· 2 shared Mitali PateliD· 2 shared Alan BrowniD· 1 shared Alan J. QuigleyiD· 1 shared Alex von KriegsheimiD· 1 shared Alison M. MeynertiD· 1 shared

Activity by Year

2017-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 36 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Amelia ShoemarkORCID

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3 papers

Recent·Most cited

Genetic & Genomic MedicineSciencePeer-reviewedApr 25, 2024

TUBB4B variants specifically impact ciliary function, causing a ciliopathic spectrum

Daniel O Dodd, Sabrina Méchaussier, Patricia Levy Yeyati…·Pleasantine Mill

The paper identifies TUBB4B mutations causing distinct ciliopathic diseases by affecting microtubule dynamics and cilia formation in humans and mice.

64 citationstop 1%

Genetic & Genomic MedicinemedRxivPreprintAug 1, 2023

Small-molecule functional rescue of PIEZO1 channel variants associated with generalised lymphatic dysplasia

Melanie J. Ludlow, Oleksandr V. Povstyan, Deborah M. Linley…·David J. Beech

The paper identifies and characterizes novel PIEZO1 variants associated with GLD, showing they impair mechanosensitivity and demonstrating small-molecule rescue of channel function.

4 citations

humanexperimental assay

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