Author

Nicole Philip-Sarles

Hôpital de la Timone

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Organism:human· 1 Organism:mouse· 1 Approach:statistical model· 1

Frequent Co-Authors

Ana Berta SousaiD· 1 shared Andrea Zanetti· 1 shared Ange‐Line BrueliD· 1 shared Carlo RivoltaiD· 1 shared Christel Thauvin‐RobinetiD· 1 shared Cristina SantosiD· 1 shared Cyril GitiauxiD· 1 shared Danielle Amana· 1 shared

Activity by Year

2023-2023 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Ana Berta SousaORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintAug 19, 2023

GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment

Andrea Zanetti, Lucas Fares‐Taie, Jeanne Amiel…·Isabelle Perrault

This study identifies GPATCH11 variants causing mis-splicing and early-onset retinal dystrophy with neurological impairment through patient analysis, fibroblast studies, and a mouse model.

1 citation

humanmouse