Author

Nicholas Ah Mew

Children's NationalORCID 0000-0002-8790-6432Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetics· 2 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:experimental assay· 2 Research Focus:variant effect prediction· 2 Assay:DNA methylation· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Aimée M. DudleyiD· 2 shared Amy SirriD· 2 shared Andrea Lynne GropmaniD· 2 shared Gareth A. CromieiD· 2 shared Hiroki MorizonoiD· 2 shared Ljubica CaldoviciD· 2 shared Michelle TangiD· 2 shared Russell S. LoiD· 2 shared

Activity by Year

2023-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 29 mutual co-author links

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2 shared papersGenetics

Aimée M. DudleyORCID

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3 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

Genome sequencing reveals the impact of pseudoexons in rare genetic disease

Georgia Pitsava, Megan H. Hawley, Light Auriga, Ivan De Dios, Arthur Ko, Sofia Marmolejos, Miguel Almalvez, Ingrid Chen, Kaylee Scozzaro, Jianhua Zhao, Rebekah Barrick, Nicholas Ah Mew, Vincent A. Fusaro, Jonathan E. LoTempio, Matthew R.G. Taylor, , Eric J. N. Vilain

Genome sequencing identifies pseudoexons as a common cause of Mendelian disease, with some variants missed by prior exome testing.

Genetics in Medicine · Sep 6, 2025Peer-reviewedGenetic & Genomic Medicine

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