| Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness C Zeitz, SG Jacobson, CP Hamel, K Bujakowska, M Neuillé, E Orhan, ... The American Journal of Human Genetics 92 (1), 67-75, 2013 | 147 | 2013 |
| Vitamin K–dependent protein S: beyond the protein C pathway B Dahlbäck Seminars in thrombosis and hemostasis 44 (02), 176-184, 2018 | 84 | 2018 |
| Role for furin in tumor necrosis factor alpha-induced activation of the matrix metalloproteinase/sphingolipid mitogenic pathway E Tellier, A Nègre-Salvayre, B Bocquet, S Itohara, YA Hannun, R Salvayre, ... Molecular and cellular biology 27 (8), 2997-3007, 2007 | 83 | 2007 |
| Mutations in IMPG1 cause vitelliform macular dystrophies G Manes, I Meunier, A Avila-Fernández, S Banfi, G Le Meur, X Zanlonghi, ... The American Journal of Human Genetics 93 (3), 571-578, 2013 | 80 | 2013 |
| Frequency and clinical pattern of vitelliform macular dystrophy caused by mutations of interphotoreceptor matrix IMPG1 and IMPG2 genes I Meunier, G Manes, B Bocquet, V Marquette, C Baudoin, B Puech, ... Ophthalmology 121 (12), 2406-2414, 2014 | 75 | 2014 |
| Systematic screening of BEST1 and PRPH2 in juvenile and adult vitelliform macular dystrophies: a rationale for molecular analysis I Meunier, A Sénéchal, CM Dhaenens, C Arndt, B Puech, ... Ophthalmology 118 (6), 1130-1136, 2011 | 70 | 2011 |
| Homozygosity mapping in autosomal recessive retinitis pigmentosa families detects novel mutations B Bocquet, N al Dain Marzouka, M Hebrard, G Manes, A Sénéchal, ... Molecular vision 19, 2487, 2013 | 64 | 2013 |
| Recessive mutations in RTN4IP1 cause isolated and syndromic optic neuropathies C Angebault, PO Guichet, Y Talmat-Amar, M Charif, S Gerber, ... The American Journal of Human Genetics 97 (5), 754-760, 2015 | 61 | 2015 |
| Relative frequencies of inherited retinal dystrophies and optic neuropathies in Southern France: assessment of 21-year data management B Bocquet, A Lacroux, MO Surget, C Baudoin, V Marquette, G Manes, ... Ophthalmic epidemiology 20 (1), 13-25, 2013 | 61 | 2013 |
| Genome editing as a treatment for the most prevalent causative genes of autosomal dominant retinitis pigmentosa M Diakatou, G Manes, B Bocquet, I Meunier, V Kalatzis International journal of molecular sciences 20 (10), 2542, 2019 | 58 | 2019 |
| Biallelic mutations in GNB3 cause a unique form of autosomal-recessive congenital stationary night blindness A Vincent, I Audo, E Tavares, JT Maynes, A Tumber, T Wright, S Li, ... The American Journal of Human Genetics 98 (5), 1011-1019, 2016 | 52 | 2016 |
| Homozygous Mutation in MERTK Causes Severe Autosomal Recessive Retinitis Pigmentosa M Ksantini, E Lafont, B Bocquet, I Meunier, CP Hamel European journal of ophthalmology 22 (4), 647-653, 2012 | 50 | 2012 |
| Dominant mutations in mtDNA maintenance gene SSBP1 cause optic atrophy and foveopathy C Piro-Mégy, E Sarzi, A Tarrés-Solé, M Péquignot, F Hensen, M Quilès, ... The Journal of clinical investigation 130 (1), 143-156, 2020 | 49 | 2020 |
| WFS1 in optic neuropathies: mutation findings in nonsyndromic optic atrophy and assessment of clinical severity J Grenier, I Meunier, V Daien, C Baudoin, F Halloy, B Bocquet, C Blanchet, ... Ophthalmology 123 (9), 1989-1998, 2016 | 48 | 2016 |
| Pea3 transcription factor cooperates with USF-1 in regulation of the murine bax transcription without binding to an Ets-binding site V Firlej, B Bocquet, X Desbiens, Y De Launoit, A Chotteau-Lelievre Journal of Biological Chemistry 280 (2), 887-898, 2005 | 37 | 2005 |
| High prevalence of PRPH2 in autosomal dominant retinitis pigmentosa in france and characterization of biochemical and clinical features G Manes, T Guillaumie, WL Vos, A Devos, I Audo, C Zeitz, V Marquette, ... American journal of ophthalmology 159 (2), 302-314, 2015 | 36 | 2015 |
| Cathepsin L and cystatin B gene expression discriminates immune coelomic cells in the leech Theromyzon tessulatum C Lefebvre, F Vandenbulcke, B Bocquet, A Tasiemski, A Desmons, ... Developmental & Comparative Immunology 32 (7), 795-807, 2008 | 36 | 2008 |
| The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management L Tranebjærg, N Strenzke, S Lindholm, ND Rendtorff, H Poulsen, ... Human Genetics 137, 111-127, 2018 | 35 | 2018 |
| Early-onset foveal involvement in retinitis punctata albescens with mutations in RLBP1 E Dessalces, B Bocquet, J Bourien, X Zanlonghi, R Verdet, I Meunier, ... JAMA ophthalmology 131 (10), 1314-1323, 2013 | 34 | 2013 |
| Xp42Mpk1 activation is not required for germinal vescicle breakdown but for Raf complete phosphorylation in insulin-stimulated Xenopus oocytes F Baert, JF Bodart, B Bocquet-Muchembled, A Lescuyer-Rousseau, ... Journal of Biological Chemistry 278 (50), 49714-49720, 2003 | 34 | 2003 |
