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Plos One|December 16, 2016
Identification of a Novel Homozygous Nonsense Mutation Confirms the Implication of GNAT1 in Rod-Cone DystrophyCécile Méjécase, Caroline Laurent-Coriat, Claudine Mayer, et al.Nature Genetics|August 25, 2015
Recurrent AAV2-related insertional mutagenesis in human hepatocellular carcinomasJean-Charles Nault, Shalini Datta, Sandrine Imbeaud, et al.Nature Genetics|May 8, 2012
Integrated analysis of somatic mutations and focal copy-number changes identifies key genes and pathways in hepatocellular carcinomaCécile Guichard, Giuliana Amaddeo, Sandrine Imbeaud, et al.American Journal of Human Genetics|April 1, 2014
Whole-exome sequencing identifies KIZ as a ciliary gene associated with autosomal-recessive rod-cone dystrophySaid El Shamieh, Marion Neuillé, Angélique Terray, et al.Clinical Genetics|October 30, 2020
WDR34, a candidate gene for non-syndromic rod-cone dystrophyMaria Solaguren-Beascoa, Kinga M Bujakowska, Cécile Méjécase, et al.American Journal of Human Genetics|December 19, 2012
Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindnessChristina Zeitz, Samuel G Jacobson, Christian P Hamel, et al.European Journal of Human Genetics : EJHG|July 28, 2016
An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patientsCrystel Bonnet, Zied Riahi, Sandra Chantot-Bastaraud, et al.American Journal of Human Genetics|February 14, 2012
Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindnessIsabelle Audo, Kinga Bujakowska, Elise Orhan, et al.Pageof 2