Author

Matheus Vernet Machado Bressan Wilke

Mayo ClinicORCID 0000-0002-8302-7705Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Approach:statistical model· 3 Organism:human· 2 Research Focus:benchmarking· 1 Assay:bulk RNA-seq· 1 Research Focus:database / resource· 1 Research Focus:differential expression· 1 Research Focus:drug response / drug discovery· 1 Approach:experimental assay· 1

Frequent Co-Authors

Jennifer GoldsteiniD· 2 shared Alexa DicksoniD· 1 shared Allan Micheil InnesiD· 1 shared Amber WaddelliD· 1 shared Ana S.A. CoheniD· 1 shared Anna HurstiD· 1 shared Barbara K. FortiniiD· 1 shared Benjamin CognéiD· 1 shared

Activity by Year

2024-2025 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 17 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Jennifer GoldsteinORCID

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3 papers

Recent·Most cited

Variant Scientists in Genomic Medicine: Survey of Demographics, Training, Duties, and Professional Development

Alexa Dickson, Kelsey R. Cone, Barbara K. Fortini, Jennifer Goldstein, Michelle L. Thompson, Matheus Vernet Machado Bressan Wilke, Anna Hurst, Molly C. Schroeder, Katarzyna Polonis, Kevin M. Bowling

The paper surveys Variant Scientists in clinical genomics labs, finding they are predominantly female, highly educated, and involved in diverse tasks with adequate employer support but lacking professional recognition.

Journal of Molecular Diagnostics · Jul 22, 2025Peer-reviewedGenetic & Genomic Medicine

Assessment of genes involved in lysosomal diseases using the ClinGen Clinical Validity framework

Emily Groopman, Shruthi Mohan, Amber Waddell, Matheus Vernet Machado Bressan Wilke, Raquel Fernandez, Meredith A. Weaver, Hongjie Chen, Hongbin Liu, Deeksha Sarihyan Bali, Heather Baudet, Lorne A. Clarke, Christina Hung, Rong Mao, Filippo Pinto e Vairo, Lemuel Racacho, , Jennifer Goldstein

The paper assesses the clinical validity of 56 genes associated with lysosomal diseases using the ClinGen framework, identifying key themes and challenges in their evaluation.

Molecular Genetics and Metabolism · Nov 1, 2024Peer-reviewedGenetic & Genomic Medicine

MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway

Maolei Gong, Jiayi Li, Yijun Liu, Matheus Vernet Machado Bressan Wilke, Qian Li, Haoran Liu, Liang Chen, Joel A. Morales‐Rosado, Ana S.A. Cohen, Susan Starling Hughes, Bonnie R. Sullivan, Valerie Waddell, Marie‐José H. van den Boogaard, Richard H. van Jaarsveld, Ellen van Binsbergen, , Xiaoli Chen

This study identifies MARK2 variants as a cause of autism spectrum disorder by showing they disrupt the WNT/β-catenin signaling pathway and impair neural development.

medRxiv · Apr 24, 2024 · PreprintGenetic & Genomic Medicine