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Science Translational Medicine|June 12, 2015
Understanding disease pleiotropy: From puzzle to solutionJean-Michel Rozet, Xavier GérardMolecular Therapy. Nucleic Acids|September 2, 2015
Intravitreal Injection of Splice-switching Oligonucleotides to Manipulate Splicing in Retinal CellsXavier Gérard, Isabelle Perrault, Arnold Munnich, et al.Genes|March 6, 2021
Whole Locus Sequencing Identifies a Prevalent Founder Deep Intronic <i>RPGRIP1</i> Pathologic Variant in the French Leber Congenital Amaurosis CohortIsabelle Perrault, Sylvain Hanein, Xavier Gérard, et al.International Journal of Molecular Sciences|September 10, 2021
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 EfficacyMartial Mbefo, Adeline Berger, Karine Schouwey, et al.Journal of Medical Genetics|December 30, 2016
Compound heterozygosity for severe and hypomorphic <i>NDUFS2</i> mutations cause non-syndromic LHON-like optic neuropathySylvie Gerber, Martina G Ding, Xavier Gérard, et al.Journal of Medical Genetics|October 30, 2014
Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophyMetodi Dimitrov Metodiev, Sylvie Gerber, Laurence Hubert, et al.American Journal of Human Genetics|January 15, 2013
ALDH1A3 mutations cause recessive anophthalmia and microphthalmiaLucas Fares-Taie, Sylvie Gerber, Nicolas Chassaing, et al.American Journal of Human Genetics|May 13, 2014
Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindnessIsabelle Perrault, Fadi F Hamdan, Marlène Rio, et al.American Journal of Human Genetics|December 5, 2017
Mutations in TUBB4B Cause a Distinctive Sensorineural DiseaseRomain Luscan, Sabrina Mechaussier, Antoine Paul, et al.Journal of Medical Genetics|August 16, 2015
IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotypeIsabelle Perrault, Jan Halbritter, Jonathan D Porath, et al.Pageof 2