Lise Larrieu

Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans

Jack J. Collier, Claire Guissart, Monika Oláhová et al. · New England Journal of Medicine · 2021 · 185 citations · Full text

Usher syndrome type 2 caused by activation of an USH2A pseudoexon: Implications for diagnosis and therapy

Christel Vaché, Thomas Besnard, Pauline Le Berre et al. · Human Mutation · 2011 · 117 citations

Engineering, Genetics, Pathology +16

Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients

David Baux, Lise Larrieu, Catherine Blanchet et al. · Human Mutation · 2007 · 98 citations

Usherin Gene, Dicysteine Repeats, New Pathogenic Alleles +17

Enrichment of LOVD-USHbases with 152<i>USH2A</i>Genotypes Defines an Extensive Mutational Spectrum and Highlights Missense Hotspots

David Baux, Catherine Blanchet, Christian Hamel et al. · Human Mutation · 2014 · 71 citations

Genetics, Extensive Mutational Spectrum, Molecular Genetics +17

Non-USH2A mutations in USH2 patients

Thomas Besnard, Christel Vaché, David Baux et al. · Human Mutation · 2011 · 64 citations

Truncated Protein Product, Mendelian Disorder, Gpr98 Mutations +13