Author

Catherine E. Otten

Seattle Children's HospitalORCID 0000-0003-1618-9437Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Organism:Drosophila· 1 Approach:experimental assay· 1

Frequent Co-Authors

Aimee Allworth· 1 shared Barbara MandrianiiD· 1 shared David Li‐KroegeriD· 1 shared Debdeep DuttaiD· 1 shared Elizabeth BlueiD· 1 shared Giuseppe MerlaiD· 1 shared Hugo Jozef BelleniD· 1 shared Ian A. GlassiD· 1 shared

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2025-2025 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Aimee Allworth

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1 paper

Recent·Most cited

Genetic & Genomic MedicineeLifePeer-reviewedAug 27, 2025

Heterozygous variants in PLCG1 affect hearing, vision, cardiac, and immune function

Mengqi Ma, Yiming Zheng, Mingxi Deng…·Hugo Jozef Bellen

The paper reports seven individuals with PLCG1 variants causing hearing, vision, cardiac, and immune issues, and shows these variants have gain-of-function effects in Drosophila models.

2 citations

Drosophilaexperimental assay

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