Author

Mark Edward Pennesi

Oregon Health & Science UniversityORCID 0000-0002-4943-6599Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 2 Approach:experimental assay· 2 Approach:statistical model· 2 Assay:DNA methylation· 1 Research Focus:gene regulatory network inference· 1 Organism:human· 1 Organism:mouse· 1 Assay:proteomics· 1

Frequent Co-Authors

Meng Wang· 2 shared Rui CheniD· 2 shared Abigail R. MoyeiD· 1 shared Aline AntonioiD· 1 shared Andrea Zanetti· 1 shared Andrew Webster· 1 shared Anna M. Boguszewska‐ChachulskaiD· 1 shared Anna MatyniaiD· 1 shared

Activity by Year

2023-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 38 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Meng Wang

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2 papers

Recent·Most cited

Biallelic germline variants in the hematologic malignancy predisposition gene DDX41 cause retinal dystrophy through dysregulation of retinal homeostasis.

Zoéline Mars, Andrea Zanetti, Karolina Kamińska, Takero Miyagawa, Duanya Liu, Aline Antonio, Gavin Arno, Isabelle S. Audo, Carmen Ayuso, Hafiz Muhammad Jafar Hussain, Xuan Bao, Pilar Barberán-Martínez, Béatrice Bocquet, Anna M. Boguszewska‐Chachulska, Christel Condroyer, , Isabelle Perrault

The paper identifies biallelic DDX41 variants in LCA/EOSRD patients and shows they disrupt retinal homeostasis through loss-of-function mechanisms in mouse models.

Genome Medicine · Oct 31, 2026Peer-reviewedGenetic & Genomic Medicine

Systematic assessment of the contribution of structural variants to inherited retinal diseases

Shu Wen, Meng Wang, Xinye Qian, Yumei Li, Keqing Wang, Jongsu Choi, Mark Edward Pennesi, Paul G Yang, Molly H. Marra, Robert Karel Koenekoop, Irma López, Anna Matynia, Michael B. Gorin, Ruifang Sui, Fengxia Yao, , Rui Chen

This study identifies 16 pathogenic structural variants in 16 IRD families using whole-genome sequencing, finding SVs contribute 2.1% to unresolved IRD cases but less than SNVs and indels.

Human Molecular Genetics · Feb 22, 2023Peer-reviewedGenetics