| Usher syndrome type 2 caused by activation of an USH2A pseudoexon: Implications for diagnosis and therapy C Vaché, T Besnard, P Le Berre, G García‐García, D Baux, L Larrieu, ... Human mutation 33 (1), 104-108, 2012 | 139 | 2012 |
| Developmental consequences of defective ATG7-mediated autophagy in humans JJ Collier, C Guissart, M Oláhová, S Sasorith, F Piron-Prunier, F Suomi, ... New England Journal of Medicine 384 (25), 2406-2417, 2021 | 121 | 2021 |
| Molecular and in silico analyses of the full‐length isoform of usherin identify new pathogenic alleles in Usher type II patients D Baux, L Larrieu, C Blanchet, C Hamel, S Ben Salah, A Vielle, ... Human mutation 28 (8), 781-789, 2007 | 108 | 2007 |
| The USH2A c. 2299delG mutation: dating its common origin in a Southern European population E Aller, L Larrieu, T Jaijo, D Baux, C Espinós, F González-Candelas, ... European Journal of Human Genetics 18 (7), 788-793, 2010 | 77 | 2010 |
| Non‐USH2A mutations in USH2 patients T Besnard, C Vaché, D Baux, L Larrieu, C Abadie, C Blanchet, S Odent, ... Human mutation 33 (3), 504-510, 2012 | 72 | 2012 |
| Experience of targeted Usher exome sequencing as a clinical test T Besnard, G García‐García, D Baux, C Vaché, V Faugère, L Larrieu, ... Molecular genetics & genomic medicine 2 (1), 30-43, 2014 | 66 | 2014 |
| Enrichment of LOVD‐USHbases with 152 USH2A Genotypes Defines an Extensive Mutational Spectrum and Highlights Missense Hotspots D Baux, C Blanchet, C Hamel, I Meunier, L Larrieu, V Faugère, C Vaché, ... Human mutation 35 (10), 1179-1186, 2014 | 65 | 2014 |
| UMD‐USHbases: a comprehensive set of databases to record and analyse pathogenic mutations and unclassified variants in seven Usher syndrome causing genes D Baux, V Faugère, L Larrieu, S Le Guédard‐Méreuze, D Hamroun, ... Human mutation 29 (8), E76-E87, 2008 | 51 | 2008 |
| Ex vivo splicing assays of mutations at noncanonical positions of splice sites in USHER genes S Le Guédard‐Méreuze, C Vaché, D Baux, V Faugère, L Larrieu, ... Human mutation 31 (3), 347-355, 2010 | 46 | 2010 |
| Mini‐exome coupled to read‐depth based copy number variation analysis in patients with inherited ataxias C Marelli, C Guissart, C Hubsch, M Renaud, JP Villemin, L Larrieu, ... Human mutation 37 (12), 1340-1353, 2016 | 42 | 2016 |
| Audiological findings in 100 USH2 patients C Abadie, C Blanchet, D Baux, L Larrieu, T Besnard, P Ravel, R Biboulet, ... Clinical genetics 82 (5), 433-438, 2012 | 40 | 2012 |
| Nasal epithelial cells are a reliable source to study splicing variants in Usher syndrome C Vaché, T Besnard, C Blanchet, D Baux, L Larrieu, V Faugère, ... Human mutation 31 (6), 734-741, 2010 | 36 | 2010 |
| RFC1 nonsense and frameshift variants cause CANVAS: clues for an unsolved pathophysiology M Benkirane, D Da Cunha, C Marelli, L Larrieu, M Renaud, J Varilh, ... Brain 145 (11), 3770-3775, 2022 | 35 | 2022 |
| Biallelic RFC1-expansion in a French multicentric sporadic ataxia cohort S Montaut, N Diedhiou, P Fahrer, C Marelli, B Lhermitte, L Robelin, ... Journal of Neurology 268, 3337-3343, 2021 | 32 | 2021 |
| Expanding the clinical spectrum of STIP1 homology and U-box containing protein 1-associated ataxia JM Ravel, M Benkirane, N Calmels, C Marelli, F Ory-Magne, C Ewenczyk, ... Journal of Neurology 268, 1927-1937, 2021 | 25 | 2021 |
| ATP8A2-related disorders as recessive cerebellar ataxia C Guissart, AN Harrison, M Benkirane, I Oncel, EA Arslan, AK Chassevent, ... Journal of Neurology 267, 203-213, 2020 | 22 | 2020 |
| ACO2 mutations: A novel phenotype associating severe optic atrophy and spastic paraplegia C Marelli, C Hamel, M Quiles, B Carlander, L Larrieu, C Delettre, E Sarzi, ... Neurology: Genetics 4 (2), e225, 2018 | 22 | 2018 |
| A false positive newborn screening result due to a complex allele carrying two frequent CF-causing variants A Bergougnoux, A Boureau-Wirth, C Rouzier, JP Altieri, F Verneau, ... Journal of Cystic Fibrosis 15 (3), 309-312, 2016 | 21 | 2016 |
| Novel deletions involving the USH2A gene in patients with Usher syndrome and retinitis pigmentosa G García-García, E Aller, T Jaijo, MJ Aparisi, L Larrieu, V Faugère, ... Molecular Vision 20, 1398, 2014 | 19 | 2014 |
| High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families M Benkirane, C Marelli, C Guissart, A Roubertie, E Ollagnon, A Choumert, ... Genetics in Medicine 23 (11), 2160-2170, 2021 | 18 | 2021 |
