Author

Ruben Attali

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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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

Co-Author Collaboration Network

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

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, Lisa Emrick, Seema R. Lalani, Ruben Attali, Joshua N. Bembenek, Hieu D. Hoang, Dustin Baldridge, Gary A. Silverman, Undiagnosed Diseases Network, Tim Schedl, 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.

Molecular Genetics and Metabolism · Mar 21, 2022Peer-reviewedGenetics