Author

Aimee Allworth

University of Washington

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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Genetic & Genomic Medicine· 2 Genetics· 2

Signature Assays, Organisms & Methods

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Approach:experimental assay· 4 Organism:human· 3 Organism:Drosophila· 2 Assay:long-read sequencing· 2 Research Focus:benchmarking· 1 Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1 Assay:DNA methylation· 1

Frequent Co-Authors

Elizabeth BlueiD· 4 shared Ian A. GlassiD· 3 shared Michael J. BamshadiD· 3 shared Sirisak Chanprasert· 3 shared Andrew B. StergachisiD· 2 shared Elisabeth A. RosenthaliD· 2 shared Fuki Marie HisamaiD· 2 shared Gail Pairitz JarvikiD· 2 shared

Activity by Year

2023-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 41 mutual co-author links

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4 shared papersGenetic & Genomic Medicine

Elizabeth BlueORCID

Mutual co-authors in cluster

Author profile →

4 papers

Recent·Most cited

Uncovering Phenotypic Expansion in AXIN2-Related Disorders Using Precision Animal Modeling

Nathalie M. Aceves-Ewing, Denise Grant Lanza, Paul C. Marcogliese, Di Lu, Chih‐Wei Hsu, H Hashimoto, Matthew Gonzalez, Audrey E. Christiansen, Tara L. Rasmussen, Alex J. Ho, Angelina Gaspero, Cher Sha, Mary E. Dickinson, Bo Yuan, Brian J. Shayota, , Andrew B. Crouse

The paper identifies novel AXIN2 variants causing expanded phenotypes in humans and validates their pathogenicity using human, mouse, and fly models.

Genetics in Medicine · Jul 9, 2026Peer-reviewedGenetic & Genomic Medicine

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

Mengqi Ma, Yiming Zheng, Mingxi Deng, Shenzhao Lu, Xueyang Pan, Xi Luo, Michelle Etoundi, David Li‐Kroeger, Kim C. Worley, Lindsay Catherine Burrage, Lauren S. Blieden, Aimee Allworth, Wei-Liang Chen, Giuseppe Merla, Barbara Mandriani, , 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.

eLife · Aug 27, 2025Peer-reviewedGenetic & Genomic Medicine

Synchronized long-read genome, methylome, epigenome, and transcriptome for resolving a Mendelian condition

Mitchell Robert Vollger, Jonas Korlach, Kiara C. Eldred, Elliott G. Swanson, Jason G. Underwood, Stephanie C. Bohaczuk, Yizi Mao, Yong-Han Hank Cheng, Jane E. Ranchalis, Elizabeth Blue, Ulrike Schwarze, Katherine M. Munson, Christopher T. Saunders, Aaron M. Wenger, Aimee Allworth, , Andrew B. Stergachis

Pooling Fiber-seq gDNA with concatenated MAS-Seq cDNA in one PacBio run gives phased genome, methylome, chromatin, and transcriptome, exposing four gene disruptions from one X;13 translocation.

Nature Genetics · Jan 29, 2025Peer-reviewedGenetics✦ In-depth digest

Full-length isoform sequencing for resolving the molecular basis of Charcot-Marie-Tooth 2A

Andrew B. Stergachis, Elizabeth Blue, Madelyn A. Gillentine, Lee-kai Wang, Ulrike Schwarze, Adriana Estela Sedeño-Cortés, Jane Ranchalis, Aimee Allworth, Austin E. Bland, Sirisak Chanprasert, Jingheng Chen, Daniel Doherty, Andrew B. Folta, Ian A. Glass, Martha J. Horike-Pyne, , Fuki Marie Hisama

The paper uses full-length isoform sequencing to identify a splicing defect in MFN2 causing CMT2A in a patient with undiagnosed neuropathy.

Neurology Genetics · Aug 8, 2023Peer-reviewedGenetics