Author

Susan L. Furth

Children's Hospital of PhiladelphiaORCID 0000-0003-2081-5242Unclaimed ORCID profile · follow to get notified of new preprints

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Genetics· 1

Signature Assays, Organisms & Methods

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Organism:Drosophila· 1 Approach:experimental assay· 1 Research Focus:variant effect prediction· 1

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Bradley A. WaradyiD· 1 shared Damian FerminiD· 1 shared Derek K. NgiD· 1 shared Jennifer Lai YeeiD· 1 shared Jianli DuaniD· 1 shared Joyce van de LeemputiD· 1 shared Matthew Gordon SampsoniD· 1 shared Pei WeniD· 1 shared

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10 top collaborators · 45 mutual co-author links

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1 shared paperGenetics

Bradley A. WaradyORCID

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1 paper

Recent·Most cited

GeneticsbioRxivPreprintMar 6, 2024

A Drosophila model to screen Alport syndrome COL4A5 variants for their functional pathogenicity

Jianli Duan, Pei Wen, Yunpo Zhao…·Zhe Han

This study uses a Drosophila model to functionally assess COL4A5 variants for pathogenicity in Alport syndrome, identifying four pathogenic variants and three benign ones.

1 citation

Drosophilaexperimental assay

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