Author

Jeffrey Y. Huang

Children's Hospital of Orange CountyORCID 0000-0002-9543-7090Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetics· 1 Molecular Biology· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 2 Organism:mouse· 2

Frequent Co-Authors

Jeremy Davis‐TurakiD· 2 shared Jon C. NeumanniD· 2 shared Nancy D. Dalton· 2 shared Raymond WangiD· 2 shared Shih‐hsin KaniD· 2 shared Yunghang Chan· 2 shared Allisandra K. RhaiD· 1 shared Anthony D. Rangel· 1 shared

Activity by Year

2020-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 41 mutual co-author links

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2 shared papersGenetics

Jeremy Davis‐TurakORCID

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2 papers

Recent·Most cited

GeneticsbioRxivPreprintMay 30, 2022

CRISPR-Mediated Generation and Characterization of a Gaa Homozygous c.1935C>A (p.D645E) Pompe Disease Knock-in Mouse Model Recapitulates Human Infantile Onset-Pompe Disease

Shih‐hsin Kan, Jeffrey Y. Huang, Jerry F. Harb…·Raymond Wang

This paper generates and characterizes a Gaa c.1935C>A knock-in mouse model of infantile-onset Pompe disease, showing reduced GAA activity, glycogen accumulation, and cardiac hypertrophy.

DOI 10.1101/2022.05.30.494061

mouseexperimental assay

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Molecular BiologyScientific ReportsPeer-reviewedJun 25, 2020

CRISPR-Cas9 generated Pompe knock-in murine model exhibits early-onset hypertrophic cardiomyopathy and skeletal muscle weakness

Jeffrey Y. Huang, Shih‐hsin Kan, Emilie K. Sandfeld…·Raymond Wang

This paper describes a CRISPR-Cas9-generated murine model of infantile-onset Pompe Disease that exhibits early-onset hypertrophic cardiomyopathy and skeletal muscle weakness similar to the human condition.

26 citations

mouseexperimental assay

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