Publications by authors named "Xavier Gerard"

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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.
Martial Mbefo, Adeline Berger, Karine Schouwey, Xavier Gérard, Corinne Kostic

Int J Mol Sci· August 2021

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Whole Locus Sequencing Identifies a Prevalent Founder Deep Intronic Pathologic Variant in the French Leber Congenital Amaurosis Cohort.
Isabelle Perrault, Sylvain Hanein, Xavier Gérard, Nelson Mounguengue, Ryme Bouyakoub

Genes (Basel)· February 2021

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YIF1B mutations cause a post-natal neurodevelopmental syndrome associated with Golgi and primary cilium alterations.
Jorge Diaz, Xavier Gérard, Michel-Boris Emerit, Julie Areias, David Geny

Brain· October 2020

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Description of Two Siblings with Apparently Severe CEP290 Mutations and Unusually Mild Retinal Disease Unrelated to Basal Exon Skipping or Nonsense-Associated Altered Splicing.
Iris Barny, Isabelle Perrault, Marlène Rio, Hélène Dollfus, Sabine Defoort-Dhellemmes, Xavier Gerard

Adv Exp Med Biol· February 2020

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AON-Mediated Exon Skipping to Bypass Protein Truncation in Retinal Dystrophies Due to the Recurrent c.4723A > T Mutation. Fact or Fiction?
Iris Barny, Isabelle Perrault, Christel Michel, Nicolas Goudin, Sabine Defoort-Dhellemmes, Xavier Gerard

Genes (Basel)· May 2019

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Basal exon skipping and nonsense-associated altered splicing allows bypassing complete CEP290 loss-of-function in individuals with unusually mild retinal disease.
Iris Barny, Isabelle Perrault, Christel Michel, Mickael Soussan, Nicolas Goudin, Xavier Gerard

Hum Mol Genet· August 2018

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Mutations in TUBB4B Cause a Distinctive Sensorineural Disease.
Romain Luscan, Sabrina Mechaussier, Antoine Paul, Guoling Tian, Xavier Gérard

Am J Hum Genet· December 2017

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Compound heterozygosity for severe and hypomorphic mutations cause non-syndromic LHON-like optic neuropathy.
Sylvie Gerber, Martina G Ding, Xavier Gérard, Klaus Zwicker, Xavier Zanlonghi

J Med Genet· May 2017

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A novel recurrent LIS1 splice site mutation in classic lissencephaly.
Marion Philbert, Camille Maillard, Mara Cavallin, Alice Goldenberg, Cecile Masson, Xavier Gerard

Am J Med Genet A· February 2017

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Antisense Oligonucleotide Therapy for Inherited Retinal Dystrophies.
Xavier Gerard, Alejandro Garanto, Jean-Michel Rozet, Rob W J Collin

Adv Exp Med Biol· April 2016

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IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype.
Isabelle Perrault, Jan Halbritter, Jonathan D Porath, Xavier Gérard, Daniela A Braun

J Med Genet· October 2015

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Intravitreal Injection of Splice-switching Oligonucleotides to Manipulate Splicing in Retinal Cells.
Xavier Gérard, Isabelle Perrault, Arnold Munnich, Josseline Kaplan, Jean-Michel Rozet

Mol Ther Nucleic Acids· September 2015

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Understanding disease pleiotropy: From puzzle to solution.
Jean-Michel Rozet, Xavier Gérard

Sci Transl Med· June 2015

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Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy.
Metodi Dimitrov Metodiev, Sylvie Gerber, Laurence Hubert, Agnès Delahodde, Dominique Chretien

J Med Genet· December 2014

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Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindness.
Isabelle Perrault, Fadi F Hamdan, Marlène Rio, José-Mario Capo-Chichi, Nathalie Boddaert

Am J Hum Genet· June 2014

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ALDH1A3 mutations cause recessive anophthalmia and microphthalmia.
Lucas Fares-Taie, Sylvie Gerber, Nicolas Chassaing, Jill Clayton-Smith, Sylvain Hanein

Am J Hum Genet· February 2013

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AON-mediated Exon Skipping Restores Ciliation in Fibroblasts Harboring the Common Leber Congenital Amaurosis CEP290 Mutation.
Xavier Gerard, Isabelle Perrault, Sylvain Hanein, Eduardo Silva, Karine Bigot

Mol Ther Nucleic Acids· June 2012

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Spectrum of SPATA7 mutations in Leber congenital amaurosis and delineation of the associated phenotype.
Isabelle Perrault, Sylvain Hanein, Xavier Gerard, Nathalie Delphin, Lucas Fares-Taie

Hum Mutat· March 2010

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