Author

Xavier Blanc

University of GenevaORCID 0000-0002-2554-3090Unclaimed ORCID profile · follow to get notified of new preprints

Additional preprints under this name without ORCID

Xavier Blanc1 paper · Institut National de Recherche pour l'Agriculture, l'Alimentation et l'Environnement

Biology Disciplines

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Genetics· 2 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Research Focus:differential expression· 2 Approach:statistical model· 2 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Assay:scRNA-seq· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Stylianos E. AntonarakisiD· 3 shared Amélie PitoniD· 2 shared Emmanuelle RanzaiD· 2 shared A. Micheil InnesiD· 1 shared Abolfazl RadiD· 1 shared Agnese LodaiD· 1 shared Alice GoldenbergiD· 1 shared Amy Dameron· 1 shared

Activity by Year

2018-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 35 mutual co-author links

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3 shared papersGenetics

Stylianos E. AntonarakisORCID

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3 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintDec 20, 2025

CIZ1-LOSS CAUSES FEMALE-SPECIFIC AUTOSOMAL NEURODEVELOPMENTAL DISORDER THROUGH DEFECTIVE X-INACTIVATION MAINTENANCE

Thomas Besnard, Agnese Loda, Emma Kneuss…·Bertrand Isidor

The paper identifies a female-specific neurodevelopmental disorder caused by biallelic CIZ1 loss-of-function variants, which disrupt X-chromosome inactivation maintenance.

1 citation

humanexperimental assay

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GeneticsJournal of Medical GeneticsPeer-reviewedDec 15, 2021

De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability

Audrey Schalk, Margot A. Cousin, Thomas D. Challman…·Bénédicte Gérard

This study identifies de novo coding variants in the AGO1 gene as a cause of a novel monogenic neurodevelopmental disorder with intellectual disability and associated behavioral features.

32 citations

humanwhole-exome sequencing

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GeneticsProceedings of the National Academy of SciencesPeer-reviewedDec 3, 2018

Extensive cellular heterogeneity of X inactivation revealed by single-cell allele-specific expression in human fibroblasts.

Marco Garieri, Georgios Stamoulis, Xavier Blanc…·Stylianos E. Antonarakis

The paper uses single-cell allele-specific expression to identify novel XCI escapees and reveals cellular heterogeneity in XCI driven by XIST.

101 citationstop 2%

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