Author

Thomas Arbogast

Centre National de la Recherche Scientifique

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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Genetics· 2 Genomics· 1 Neuroscience· 1

Signature Assays, Organisms & Methods

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Organism:mouse· 4 Approach:experimental assay· 3 Organism:human· 2 Approach:statistical model· 2 Research Focus:differential expression· 1 Research Focus:GWAS / association mapping· 1 Assay:GWAS summary statistics· 1 Assay:proteomics· 1

Frequent Co-Authors

Erica E. DavisiD· 2 shared Jocelyn LaporteiD· 2 shared Nicholas KatsanisiD· 2 shared Yann HéraultiD· 2 shared Alexandre ReymondiD· 1 shared Andrea MessinaiD· 1 shared Anita E. EcklyiD· 1 shared Anna Pellaz· 1 shared

Activity by Year

2019-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 29 mutual co-author links

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2 shared papersGenetics

Erica E. DavisORCID

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Author profile →

4 papers

Recent·Most cited

Evolutionary rewiring of the DNM2 proline-rich domain drives lineage-specific constraints in erythropoiesis

Thomas Arbogast, Peggy Kirstetter, Christine Kretz, Claire Masson, Susan H. Chan, Philippe Kastner, Anita E. Eckly, Jocelyn Laporte

This study shows that human DNM2 causes erythropoiesis defects in mice due to rewiring of the proline-rich domain interactome, highlighting the importance of regulatory domains in tissue-specific function.

bioRxiv · Mar 23, 2026 · PreprintGenetics

DNM2-CMT neuropathy stems from disrupted Schwann cell function and shows limited therapeutic reversibility

Marie Goret, Thomas Arbogast, Jocelyn Laporte

This study characterizes a Dnm2K562E/SC- mouse model of DNM2-CMT, showing axonal loss, demyelination, and limited therapeutic response to DNM2 supplementation.

bioRxiv · Dec 4, 2025 · PreprintNeuroscience

Oligogenic effects of 16p11.2 copy number variation on craniofacial development

Yuqi Qiu, Thomas Arbogast, Sandra Martín Lorenzo, Hongying Li, Shih C. Tang, Ellen Richardson, Oanh Hong, Shawn Cho, Omar Shanta, Timothy Pang, Christina M. Corsello, Curtis K. Deutsch, Claire Chevalier, Erica E. Davis, Lilia M. Iakoucheva, , Jonathan L. Sebat

The paper investigates the oligogenic effects of 16p11.2 copy number variation on craniofacial development across species, showing that individual genes and their combinations influence facial structure.

Cell Reports · Sep 1, 2019Peer-reviewedGenetics

Leveraging biobank-scale rare and common variant analyses to identify ASPHD1 as the main driver of reproductive traits in the 16p11.2 locus

Katrin Männik, Thomas Arbogast, Maarja Lepamets, Kaido Lepik, Anna Pellaz, Herta Ademi, Zachary A Kupchinsky, Jacob Ellegood, Catia Attanasio, Andrea Messina, Samuel Rotman, Sandra Martin‐Brevet, Estelle Dubruc, Jacqueline Chrast, Jason P. Lerch, , Alexandre Reymond

The paper identifies ASPHD1 as a key driver of reproductive traits in the 16p11.2 locus using biobank data, Mendelian randomization, and animal models.

bioRxiv · Jul 26, 2019 · PreprintGenomics