Xavier Gerard

Paris, 75015, France

Last Updated: 09/26/2026

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Found 17 publications

Enhancer of Zeste Homolog 2 (EZH2) Contributes to Rod Photoreceptor Death Process in Several Forms of Retinal Degeneration and Its Activity Can Serve as a Biomarker for Therapy Efficacy.

Enhancer of Zeste Homolog 2 (EZH2) Contributes to Rod Photoreceptor Death Process in Several Forms of Retinal Degeneration and Its Activity Can Serve as a Biomarker for Therapy Efficacy.

Journal: International journal of molecular sciences

Published: July 26, 2021

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

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

Journal: Genes

Published: January 18, 2021

YIF1B mutations cause a post-natal neurodevelopmental syndrome associated with Golgi and primary cilium alterations.

YIF1B mutations cause a post-natal neurodevelopmental syndrome associated with Golgi and primary cilium alterations.

Journal: Brain : a journal of neurology

Published: January 24, 2020

Description of Two Siblings with Apparently Severe CEP290 Mutations and Unusually Mild Retinal Disease Unrelated to Basal Exon Skipping or Nonsense-Associated Altered Splicing.

Description of Two Siblings with Apparently Severe CEP290 Mutations and Unusually Mild Retinal Disease Unrelated to Basal Exon Skipping or Nonsense-Associated Altered Splicing.

Journal: Advances in experimental medicine and biology

Published: December 30, 2019

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

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

Journal: Genes

Published: March 29, 2019

Basal exon skipping and nonsense-associated altered splicing allows bypassing complete CEP290 loss-of-function in individuals with unusually mild retinal disease.

Basal exon skipping and nonsense-associated altered splicing allows bypassing complete CEP290 loss-of-function in individuals with unusually mild retinal disease.

Journal: Human molecular genetics

Published: March 02, 2018

Mutations in TUBB4B Cause a Distinctive Sensorineural Disease.

Mutations in TUBB4B Cause a Distinctive Sensorineural Disease.

Journal: American journal of human genetics

Published: July 28, 2017

Compound heterozygosity for severe and hypomorphic NDUFS2 mutations cause non-syndromic LHON-like optic neuropathy.

Compound heterozygosity for severe and hypomorphic NDUFS2 mutations cause non-syndromic LHON-like optic neuropathy.

Journal: Journal of medical genetics

Published: August 04, 2016

A novel recurrent LIS1 splice site mutation in classic lissencephaly.

A novel recurrent LIS1 splice site mutation in classic lissencephaly.

Journal: American journal of medical genetics. Part A

Published: July 19, 2016

Antisense Oligonucleotide Therapy for Inherited Retinal Dystrophies.

Antisense Oligonucleotide Therapy for Inherited Retinal Dystrophies.

Journal: Advances in experimental medicine and biology

Published: October 03, 2015

Intravitreal Injection of Splice-switching Oligonucleotides to Manipulate Splicing in Retinal Cells.

Intravitreal Injection of Splice-switching Oligonucleotides to Manipulate Splicing in Retinal Cells.

Journal: Molecular therapy. Nucleic acids

Published: July 10, 2015

Understanding disease pleiotropy: From puzzle to solution.

Understanding disease pleiotropy: From puzzle to solution.

Journal: Science translational medicine

Published: June 12, 2015

Showing 1-12 of 17

Last Updated: 09/26/2026