Author

Hiroki Morizono

Children's NationalORCID 0000-0002-9678-5564Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetics· 2 Immunology· 1 Molecular Biology· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 4 Organism:human· 4 Research Focus:variant effect prediction· 2 Assay:bulk RNA-seq· 1 Assay:DNA methylation· 1 Research Focus:host-pathogen & immune response· 1 Organism:mouse· 1

Frequent Co-Authors

Ljubica CaldoviciD· 3 shared Aimée M. DudleyiD· 2 shared Amy SirriD· 2 shared Andrea Lynne GropmaniD· 2 shared Gareth A. CromieiD· 2 shared Michelle TangiD· 2 shared Nicholas Ah MewiD· 2 shared Russell S. LoiD· 2 shared

Activity by Year

2018-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 29 mutual co-author links

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3 shared papersGenetics

Ljubica CaldovicORCID

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Author profile →

4 papers

Recent·Most cited

Functional Profiling of 2,193 ASS1 Missense Variants: Insights into Variant Pathogenicity and Epistatic Interactions in Citrullinemia Type I

Russell S. Lo, Gareth A. Cromie, Michelle Tang, Amy Sirr, Ljubica Caldovic, Hiroki Morizono, Nicholas Ah Mew, Andrea Lynne Gropman, Aimée M. Dudley

The paper functionally profiles 2193 ASS1 missense variants to determine their pathogenicity and epistatic interactions in Citrullinemia Type I.

PLoS Genetics · Jun 17, 2026Peer-reviewedGenetics

Dysregulated airway epithelial antiviral immunity in Down Syndrome impairs type III IFN response and amplifies airway inflammation during RSV infection.

Elizabeth A. Chorvinsky, Surajit Bhattacharya, Betelehem Solomon Bera, Allison Welham, Karim Ismat, Claire M. Lawlor, Diego A. Preciado, José L. Gómez, Hiroki Morizono, Dinesh K. Pillai, Maria Jimena Gutierrez, Jyoti K. Jaiswal, Gustavo Niño

This study shows that Down Syndrome impairs type III IFN response and increases proinflammatory mediators in airway epithelial cells during RSV infection, leading to severe inflammation.

American Journal of Respiratory Cell and Molecular Biology · Jun 30, 2025Peer-reviewedImmunology

The functional impact of 1,570 SNP-accessible missense variants in human OTC

Russell S. Lo, Gareth A. Cromie, Michelle Tang, Kevin Teng, Katherine Owens, Amy Sirr, J. Nathan Kutz, Richard N. McLaughlin, Hiroki Morizono, Ljubica Caldovic, Nicholas Ah Mew, Andrea Lynne Gropman, Aimée M. Dudley

The paper develops a high-throughput functional assay to assess the impact of 1,570 OTC missense variants, improving variant interpretation using ACMG/AMP guidelines.

The American Journal of Human Genetics · May 1, 2023Peer-reviewedGenetics

Impaired ureagenesis due to arginine-insensitive N-acetylglutamate synthase

Parthasarathy Sonaimuthu, Emilee Senkevitch, Nantaporn Haskins, Prech Uapinyoying, Markey McNutt, Hiroki Morizono, Mendel Tuchman, Ljubica Caldovic

The paper investigates the role of L-arginine in NAGS activation and ureagenesis by studying NAGS knockout mice and a human patient with a related mutation.

bioRxiv · Sep 25, 2018 · PreprintMolecular Biology