Author

Simone Thomas

Johns Hopkins UniversityORCID 0009-0003-9172-2876Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Neuroscience· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Research Focus:differential expression· 1 Organism:Drosophila· 1 Approach:experimental assay· 1 Approach:statistical model· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Ahmet HökeiD· 2 shared Adrian M. IsaacsiD· 1 shared Alessandro Bertini· 1 shared Amy R. HicksiD· 1 shared Andrea CorteseiD· 1 shared Andreas A. ArgyriouiD· 1 shared Arianna Ghia· 1 shared Arianna TucciiD· 1 shared

Activity by Year

2025-2025 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 37 mutual co-author links

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2 shared papersNeuroscience

Ahmet HökeORCID

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2 papers

Recent·Most cited

NeurosciencebioRxivPreprintNov 18, 2025

CANVAS causing AAGGG repeat expansions cause tissue-specific reduction in RFC1 expression and increase sensitivity to DNA damage

Riccardo Curró, Natalia Dominik, Stefano Facchini…·Andrea Cortese

DOI 10.1101/2025.11.18.688292

Drosophilahuman

𝕏 PostBluesky

Genetic & Genomic MedicinemedRxivPreprintApr 18, 2025

Heterozygous and Homozygous RFC1 AAGGG Repeat Expansions are Common in Idiopathic Peripheral Neuropathy

Zitian Tang, Sinem Seleme Övünç, Ryo Iwase…·Sheng Chih Jin

The paper identifies RFC1 AAGGG repeat expansions in idiopathic peripheral neuropathy patients using a new computational pipeline and finds both heterozygous and homozygous expansions contribute to the condition.

DOI 10.1101/2025.04.18.25325809

humanwhole-genome sequencing

𝕏 PostBluesky