Author

Sophie Julia

Centre Hospitalier Universitaire de ToulouseORCID 0000-0003-1272-528XUnclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Research Focus:gene regulatory network inference· 2 Organism:human· 2 Approach:statistical model· 2 Research Focus:cell type annotation· 1 Research Focus:differential expression· 1 Assay:DNA methylation· 1 Approach:experimental assay· 1 Organism:zebrafish· 1

Frequent Co-Authors

Konrad PlatzeriD· 2 shared Abolfazl RadiD· 1 shared Alice GoldenbergiD· 1 shared Alihossein Sabri· 1 shared Alireza SedaghatiD· 1 shared Alper GezdiriciiD· 1 shared Andrew E. FryiD· 1 shared Ann‐Charlotte ThuressoniD· 1 shared

Activity by Year

2022-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 37 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Konrad PlatzerORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicineThe American Journal of Human GeneticsPeer-reviewedApr 16, 2025

Biallelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a syndromic neurodevelopmental disorder

Stéphanie Efthymiou, Cailyn P Leo, Chenghong Deng…·Dragony Fu

This study identifies biallelic TRMT1 variants causing a syndromic neurodevelopmental disorder through tRNA modification defects in humans and zebrafish.

12 citations

humanzebrafish

𝕏 PostBluesky

Genetic & Genomic MedicineEuropean Journal of Human GeneticsPeer-reviewedDec 23, 2022

Heterozygous and homozygous variants in STX1A cause a neurodevelopmental disorder with or without epilepsy

Johannes Luppe, Heinrich Sticht, François Lecoquierre…·Konrad Platzer

The paper identifies STX1A variants causing a neurodevelopmental disorder with or without epilepsy, showing different phenotypes based on variant type.

18 citations

humanstatistical model

𝕏 PostBluesky