Author

Miriam Essid

Lyon 1 UniversitéORCID 0009-0009-8129-164XUnclaimed 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 Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1 Approach:experimental assay· 1 Organism:mouse· 1 Approach:statistical model· 1

Frequent Co-Authors

A.C. Cullier· 1 shared Adélaïde Brosseau-Beauvir· 1 shared Agnès Guichet· 1 shared Alex KentsisiD· 1 shared Alex Michael PagnozziiD· 1 shared Alex ProektiD· 1 shared Ali DursuniD· 1 shared Alice GoldenbergiD· 1 shared

Activity by Year

2026-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 21 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

A.C. Cullier

Mutual co-authors in cluster

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2 papers

Recent·Most cited

Genetic & Genomic MedicineNature GeneticsPeer-reviewedMar 30, 2026

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies

Elsa Leitão, Amandine Santini, Benjamin Cogné…·Johanna Herwig

The paper identifies RNU2-2 variants as a frequent cause of neurodevelopmental disorders, both dominant and recessive, in a large cohort of individuals with rare disorders.

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humanbulk RNA-seq

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NeuroscienceScience AdvancesPeer-reviewedJan 14, 2026

A transposase-derived gene required for human brain development

Luz Jubierre, Sara A. Lewis, Rodrigo Lopez Gutierrez…·Alex Kentsis

This study identifies PGBD5 as a transposase-derived gene essential for brain development in humans and mice, with deficiency causing intellectual disability and seizures.

9 citationstop 2%

humanmouse

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