Author

A. Bellomo

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Cell Biology· 1

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Research Focus:cell signaling & trafficking· 1 Research Focus:cell type annotation· 1 Research Focus:development & morphogenesis· 1 Research Focus:differential expression· 1 Approach:experimental assay· 1 Organism:human· 1

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D. B. Everman· 1 shared D. C. Gershlick· 1 shared J. R. Jones· 1 shared J. S. Bonifacino· 1 shared M. Ishida· 1 shared

Activity by Year

2018-2018 · peak 1/yr

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1 shared paperCell Biology

D. B. Everman

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1 paper

Recent·Most cited

A Neurodevelopmental Disorder Caused by Mutations in the VPS51 Subunit of the GARP and EARP Complexes

D. C. Gershlick, M. Ishida, J. R. Jones, A. Bellomo, J. S. Bonifacino, D. B. Everman

This study identifies compound heterozygous VPS51 mutations in a patient with neurodevelopmental disorder, showing impaired GARP/EARP complex assembly and lysosomal dysfunction.

bioRxiv · Sep 9, 2018Cell Biology