Author

Charles‐Joris Roux

Hôpital Necker-Enfants MaladesORCID 0000-0001-9008-548XUnclaimed 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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Approach:experimental assay· 1 Organism:human· 1 Organism:mouse· 1

Frequent Co-Authors

Agnès RötigiD· 1 shared Alessandra PieraniiD· 1 shared Arnold MünnichiD· 1 shared Benedetta RuzzenenteiD· 1 shared Céline BellesmeiD· 1 shared Coralie ZangarelliiD· 1 shared Dragana J. JosifovaiD· 1 shared Elena FreriiD· 1 shared

Activity by Year

2020-2021 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 21 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Agnès RötigORCID

Mutual co-authors in cluster

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2 papers

Recent·Most cited

NeurosciencebioRxivPreprintMay 25, 2021

Functional characterization of RELN missense mutations involved in recessive and dominant forms of Neuronal Migration Disorders

Martina Riva, Sofia Ferreira, Vera P. Medvedeva…·Alessandra Pierani

This study functionally characterizes RELN missense mutations in both recessive and dominant neuronal migration disorders, showing a genotype-phenotype correlation.

6 citations

mouseexperimental assay

𝕏 PostBluesky

Genetic & Genomic MedicineEuropean Journal of Human GeneticsPeer-reviewedNov 9, 2020

Novel FARS2 mutations in patients with non-fatal early onset encephalopathy with or without epilepsy

Giulia Barcia, Marlène Rio, Zahra Assouline…·Benedetta Ruzzenente

The paper reports three novel compound heterozygous FARS2 mutations in patients with non-fatal early onset encephalopathy and epilepsy.

12 citations

human

𝕏 PostBluesky