Concepedia

Lise Larrieu

LL

Statistics

Publications

22

Citations

1.1K

H-Index

18

Active since

2007

Affiliations

Inserm(Current)

Université de Montpellier

Institut de Génétique Moléculaire de Montpellier

Institut Universitaire de Recherche Clinique

Centre National de la Recherche Scientifique

Lise Larrieu is an author at Inserm specializing in life sciences, genetics, and human genetics.

Publications per year

2007–2024

22

Publications

22

Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans

Jack J. Collier, Claire Guissart, Monika Oláhová et al. · New England Journal of Medicine · 2021 · 194 citations · Full text

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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 · 118 citations

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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

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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 · 72 citations

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Non-USH2A mutations in USH2 patients

Thomas Besnard, Christel Vaché, David Baux et al. · Human Mutation · 2011 · 65 citations

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