Author

Eduardo Moya

Bradford Royal InfirmaryORCID 0000-0001-9356-9009Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Approach:experimental assay· 1 Organism:human· 1

Frequent Co-Authors

Andrew Rutman· 1 shared Christopher Mark WatsoniD· 1 shared Christopher O’CallaghaniD· 1 shared Chunmei LiiD· 1 shared David Grynspan· 1 shared David T. BonthroniD· 1 shared Eamonn G. SheridaniD· 1 shared Ian CarriD· 1 shared

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2018-2018 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperGenetics

Andrew Rutman

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1 paper

Recent·Most cited

GeneticsThe American Journal of Human GeneticsPeer-reviewedNov 1, 2018

Biallelic Mutations in LRRC56 encoding a protein associated with intraflagellar transport, cause mucociliary clearance and laterality defects

Serge Bonnefoy, Christopher Mark Watson, Kristin D. Kernohan…·Eamonn G. Sheridan

The paper identifies biallelic LRRC56 mutations causing ciliary dysfunction and laterality defects in two families, linking LRRC56 to intraflagellar transport and dynein arm assembly.

72 citationstop 4%

humanexperimental assay

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