Author

Mark Wener

University of WashingtonORCID 0000-0002-8304-6957Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2 Genetics· 1 Molecular Biology· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Research Focus:differential expression· 2 Approach:experimental assay· 2 Assay:long-read sequencing· 2 Approach:statistical model· 2 Research Focus:variant effect prediction· 2 Assay:CRISPR screen· 1 Research Focus:gene regulatory network inference· 1

Frequent Co-Authors

Andrew B. StergachisiD· 3 shared Danny E. MilleriD· 3 shared Elisabeth A. RosenthaliD· 3 shared Elizabeth BlueiD· 3 shared Ian A. GlassiD· 3 shared Kathleen A. LeppigiD· 3 shared Katrina M. DippleiD· 3 shared Martha J. Horike-PyneiD· 3 shared

Activity by Year

2022-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Andrew B. StergachisORCID

Mutual co-authors in cluster

Author profile →

4 papers

Recent·Most cited

Phenotype-Specific Recalibration of MAVE Data Enables Repurposing of BAP1 Functional Assays for Kury-Isidor Syndrome

Pankhuri Gupta, Elsa V. Balton, Malvika Tejura, Runjun D. Kumar, Matthew W. Snyder, Jeremy Stone, Rehan Marie Villani, Peter H. Byers, Chanprasert Sirisak, Ian A. Glass, Martha J. Horike-Pyne, Danny E. Miller, Jane E. Ranchalis, Elisabeth A. Rosenthal, Andrew K. Solomon, , Andrew B. Stergachis

The paper recalibrates BAP1 MAVE data for different disease phenotypes to enable accurate variant classification across related disorders.

medRxiv · May 21, 2026 · PreprintGenetic & Genomic Medicine

Genome-wide detection and clinical prioritization of tandem repeat outliers using long-read sequencing

Sophia B Gibson, Nikhita Damaraju, J. (Gus) Gustafson, Elsa V. Balton, Sirisak Chanprasert, Ian A. Glass, Martha J. Horike-Pyne, Runjun D. Kumar, Kathleen A. Leppig, Chris Lundberg, Jane E. Ranchalis, Elisabeth A. Rosenthal, Andrew K. Solomon, Andrew B. Stergachis, Mark Wener, , Danny E. Miller

The paper develops TRoLR, a pipeline using long-read sequencing to detect and prioritize pathogenic tandem repeat expansions in diverse populations, identifying known and novel expansions with clinical relevance.

medRxiv · May 1, 2026 · PreprintGenetic & Genomic Medicine

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

Detection of antibodies neutralizing historical and emerging SARS-CoV-2 strains using a thermodynamically coupled de novo biosensor system

Jason Z. Zhang, Andy Hsien-Wei Yeh, Alexandra C. Walls, Basile I. M. Wicky, Kaitlin R. Sprouse, Laura A. VanBlargan, Rebecca S. Treger, Alfredo Quijano‐Rubio, Minh Nguyet Pham, John C. Kraft, Ian C. Haydon, Wei Yang, Michelle DeWitt, John E. Bowen, Cameron M. Chow, , David A. Baker

The paper introduces a thermodynamically coupled biosensor to rapidly detect neutralizing antibodies against SARS-CoV-2 strains in serum samples.

Nature Biotechnology · Apr 28, 2022Peer-reviewedMolecular Biology