Author

Ruben Attali

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Genetics· 1

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Organism:C. elegans· 1 Approach:experimental assay· 1

Frequent Co-Authors

Dustin BaldridgeiD· 1 shared Gary A. SilvermaniD· 1 shared Hieu D. HoangiD· 1 shared Jill Anne RosenfeldiD· 1 shared Joshua N. BembenekiD· 1 shared Lindsay Catherine BurrageiD· 1 shared Lisa EmrickiD· 1 shared Sara M. FielderiD· 1 shared

Activity by Year

2022-2022 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperGenetics

Dustin BaldridgeORCID

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1 paper

Recent·Most cited

GeneticsMolecular Genetics and MetabolismPeer-reviewedMar 21, 2022

Functional analysis of a novel de novo variant in PPP5C associated with microcephaly, seizures, and developmental delay

Sara M. Fielder, Jill Anne Rosenfeld, Lindsay Catherine Burrage…·Stephen C. Pak

The paper functionally validates a de novo PPP5C variant in a human proband using C. elegans, showing it causes loss-of-function and is likely responsible for the patient's phenotypes.

12 citations

C. elegansexperimental assay

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