List of works by Xavier Gérard

A novel recurrent LIS1 splice site mutation in classic lissencephaly.

scientific article published on 27 November 2016

ALDH1A3 mutations cause recessive anophthalmia and microphthalmia

scientific article published on 9 January 2013

AON-mediated Exon Skipping Restores Ciliation in Fibroblasts Harboring the Common Leber Congenital Amaurosis CEP290 Mutation

scientific article

Abnormal respiratory cilia in non-syndromic Leber congenital amaurosis with CEP290 mutations.

scientific article published on 30 August 2010

Antisense Oligonucleotide Therapy for Inherited Retinal Dystrophies.

scientific article published on January 2016

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

scientific article published on 28 December 2016

IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype.

scientific article

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

scientific article published on September 2015

Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindness

scientific article

Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy

scientific article published on 28 October 2014

Mutations of IFT81, encoding an IFT-B core protein, as a rare cause of a ciliopathy.

scientific article published on 13 July 2015

Spectrum of SPATA7 mutations in Leber congenital amaurosis and delineation of the associated phenotype

scientific article published in March 2010

Understanding disease pleiotropy: From puzzle to solution

scientific article

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