Author

Paul M.L. Janssen

The Ohio State UniversityORCID 0000-0002-9682-3014Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Research Focus:differential expression· 2 Approach:experimental assay· 2 Organism:human· 2 Approach:statistical model· 2 Research Focus:database / resource· 1 Research Focus:gene regulatory network inference· 1 Assay:metabolomics· 1 Assay:metagenomics· 1

Frequent Co-Authors

Adriana S Passadouro· 1 shared Anju ShuklaiD· 1 shared Arthur S. Aylsworth· 1 shared Barry J. ByrneiD· 1 shared Bauke V. SchomakersiD· 1 shared Brit L. MartiniD· 1 shared Cathelijne M. E. Lamboo· 1 shared Colby T. MarviniD· 1 shared

Activity by Year

2020-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 20 mutual co-author links

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1 shared paperMolecular Biology

Adriana S Passadouro

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2 papers

Recent·Most cited

Integrated Multi-Omics Mapping of Mitochondrial Dysfunction and Substrate Preference in Barth Syndrome Cardiac Tissue

Bauke V. Schomakers, Adriana S Passadouro, Maria M. Trętowicz, Pelle J Simpson, Yorrick R. J. Jaspers, Michel van Weeghel, Iman Man Hu, Cathelijne M. E. Lamboo, Denise Cloutier, Barry J. Byrne, Jan Bert van Klinken, Paul M.L. Janssen, Sander R. Piersma, Connie R. Jiménez, Frédéric Maxime Vaz, , Signe Mosegaard

This study analyzes heart tissue from BTHS patients using integrated omics to identify metabolic and mitochondrial changes associated with the disease.

EMBO Molecular Medicine · Oct 13, 2025Peer-reviewedMolecular Biology

Mutations in MYLPF cause a novel segmental amyoplasia that manifests as distal arthrogryposis

Jessica X. Chong, Jared Coffin Talbot, Emily M. Teets, Samantha Beck Previs, Brit L. Martin, Kathryn M. Shively, Colby T. Marvin, Arthur S. Aylsworth, Reem Saadeh‐Haddad, Ulrich A. Schatz, Francesca Inzana, Tawfeg Ben‐Omran, Fatima Almusafri, Mariam AlMulla, Kati J. Buckingham, , Michael J. Bamshad

The paper identifies mutations in MYLPF causing segmental amyoplasia with distal arthrogryposis, showing both dominant and recessive inheritance patterns and linking MYLPF impairment to muscle degeneration.

The American Journal of Human Genetics · Jul 23, 2020Peer-reviewedGenetics