Author
University of Bristol
Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.
3 papers
Recent·Most cited
Ilaria Parenti, Alina Hesters, Marta Gil‐Salvador…·Frank J. Kaiser
This study identifies MAU2 variants as a new cause of Cornelia de Lange Syndrome and describes associated molecular and clinical features.
Rebeka Butkovič, Alexander P. Walker, Michael D. Healy…·Peter J. Cullen
The paper identifies the mechanism by which SNX17 cargo is selected for entry into the Commander recycling pathway through direct binding to the Retriever sub-complex.
Kohji Kato, Yosuke Nishio, Kirsty J. McMillan…·Peter J. Cullen
This study identifies RSS as a recyclinopathy caused by dysfunction in the Commander endosomal recycling pathway, linking it to multiple tissue malformations.