Isabelle Perrault

5PUBLICATIONS
80CO-AUTHORS
Epigenetics (incl. genome methylation and epigenomics)Vision scienceCellular nervous systemGene expression (incl. microarray and other genome-wide approaches)Optical technology
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Publications (5)

|Nov 21, 2024
GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment.

Andrea Zanetti, Gwendal Dujardin, Lucas Fares-Taie

|Jun 19, 2024
Four Unique Genetic Variants in Three Genes Account for 62.7% of Early-Onset Severe Retinal Dystrophy in Chile: Diagnostic and Therapeutic Consequences.

Rene Moya, Clémentine Angée, Sylvain Hanein

|Apr 25, 2024
Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules.

Daniel O Dodd, Sabrina Mechaussier, Patricia L Yeyati

|Mar 06, 2021
Whole Locus Sequencing Identifies a Prevalent Founder Deep Intronic RPGRIP1 Pathologic Variant in the French Leber Congenital Amaurosis Cohort.

Isabelle Perrault, Sylvain Hanein, Xavier Gérard

|May 17, 2019
AON-Mediated Exon Skipping to Bypass Protein Truncation in Retinal Dystrophies Due to the Recurrent CEP290 c.4723A > T Mutation. Fact or Fiction?

Iris Barny, Isabelle Perrault, Christel Michel

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Frequent Collaborators

5 joint publications

Jean-Michel Rozet

3 joint publications

Lucas Fares-Taie

2 joint publications

Sylvain Hanein

1 joint publications

Béatrice Bocquet