| Mutations of Human NARS2, Encoding the Mitochondrial Asparaginyl-tRNA Synthetase, Cause Nonsyndromic Deafness and Leigh Syndrome M Simon, EM Richard, X Wang, M Shahzad, VH Huang, TA Qaiser, ... PLoS genetics 11 (3), e1005097, 2015 | 123 | 2015 |
| Plasma transcortin influences endocrine and behavioral stress responses in mice EM Richard, JC Helbling, C Tridon, A Desmedt, AM Minni, M Cador, ... Endocrinology 151 (2), 649-659, 2010 | 118 | 2010 |
| Ventral tegmental area cannabinoid type-1 receptors control voluntary exercise performance S Dubreucq, A Durand, I Matias, G Bénard, E Richard, E Soria-Gomez, ... Biological psychiatry 73 (9), 895-903, 2013 | 100 | 2013 |
| Bi-allelic variants in METTL5 cause autosomal-recessive intellectual disability and microcephaly EM Richard, DL Polla, MZ Assir, M Contreras, M Shahzad, AA Khan, ... The American Journal of Human Genetics 105 (4), 869-878, 2019 | 70 | 2019 |
| The planar polarity protein Scribble1 is essential for neuronal plasticity and brain function MM Moreau, N Piguel, T Papouin, M Koehl, CM Durand, ME Rubio, F Loll, ... Journal of Neuroscience 30 (29), 9738-9752, 2010 | 69 | 2010 |
| Gipc1 has a dual role in Vangl2 trafficking and hair bundle integrity in the inner ear AP Giese, J Ezan, L Wang, L Lasvaux, F Lembo, C Mazzocco, E Richard, ... Development 139 (20), 3775-3785, 2012 | 64 | 2012 |
| Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss EM Richard, RLP Santos‐Cortez, R Faridi, AU Rehman, K Lee, ... Human mutation 40 (1), 53-72, 2019 | 60 | 2019 |
| An alteration in ELMOD3, an Arl2 GTPase-activating protein, is associated with hearing impairment in humans TJ Jaworek, EM Richard, AA Ivanova, APJ Giese, DI Choo, SN Khan, ... PLoS genetics 9 (9), e1003774, 2013 | 56 | 2013 |
| Cannabinoid type 1 receptors located on single-minded 1–expressing neurons control emotional behaviors S Dubreucq, S Kambire, M Conforzi, M Metna-Laurent, A Cannich, ... Neuroscience 204, 230-244, 2012 | 49 | 2012 |
| Functional implication of an Arg307Gly substitution in corticosteroid-binding globulin, a candidate gene for a quantitative trait locus associated with cortisol variability and … V Guyonnet-Dupérat, N Geverink, GS Plastow, G Evans, O Ousova, ... Genetics 173 (4), 2143-2149, 2006 | 43 | 2006 |
| Activation of the sigma-1 receptor chaperone alleviates symptoms of Wolfram syndrome in preclinical models L Crouzier, A Danese, Y Yasui, EM Richard, JC Liévens, S Patergnani, ... Science translational medicine 14 (631), eabh3763, 2022 | 33 | 2022 |
| Use of zebrafish models to boost research in rare genetic diseases L Crouzier, EM Richard, J Sourbron, L Lagae, T Maurice, B Delprat International journal of molecular sciences 22 (24), 13356, 2021 | 21 | 2021 |
| ELMOD3, a novel causative gene, associated with human autosomal dominant nonsyndromic and progressive hearing loss W Li, J Sun, J Ling, J Li, C He, Y Liu, H Chen, M Men, Z Niu, Y Deng, M Li, ... Human genetics 137, 329-342, 2018 | 20 | 2018 |
| Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss EM Richard, S Bakhtiari, APL Marsh, R Kaiyrzhanov, M Wagner, S Shetty, ... The American Journal of Human Genetics 108 (10), 2006-2016, 2021 | 17 | 2021 |
| Developmental regulation of CB1-mediated spike-time dependent depression at immature mossy fiber-CA3 synapses MD Caiati, S Sivakumaran, F Lanore, C Mulle, E Richard, D Verrier, ... Scientific Reports 2 (1), 285, 2012 | 15 | 2012 |
| Sigma-1 receptor is critical for mitochondrial activity and unfolded protein response in larval zebrafish L Crouzier, M Denus, EM Richard, A Tavernier, C Diez, N Cubedo, ... International Journal of Molecular Sciences 22 (20), 11049, 2021 | 13 | 2021 |
| Morphological, behavioral and cellular analyses revealed different phenotypes in Wolfram syndrome wfs1a and wfs1b zebrafish mutant lines L Crouzier, EM Richard, C Diez, H Alzaeem, M Denus, N Cubedo, ... Human Molecular Genetics 31 (16), 2711-2727, 2022 | 11 | 2022 |
| Loss of Pde6a Induces Rod Outer Segment Shrinkage and Visual Alterations in pde6aQ70X Mutant Zebrafish, a Relevant Model of Retinal Dystrophy L Crouzier, C Diez, EM Richard, N Cubedo, C Barbereau, M Rossel, ... Frontiers in Cell and Developmental Biology 9, 675517, 2021 | 9 | 2021 |
| Corticosteroid binding globulin and glucocorticoid receptor genotypes influence body composition in a male population E Richard, JM Fernandez-Real, A Lopez-Bermejo, W Ricart, H Déchaud, ... International Journal of Genetics and Molecular Biology 1 (4), 059-063, 2009 | 7 | 2009 |
| NCS1 overexpression restored mitochondrial activity and behavioral alterations in a zebrafish model of Wolfram syndrome L Crouzier, EM Richard, C Diez, M Denus, A Peyrel, H Alzaeem, ... Molecular Therapy-Methods & Clinical Development 27, 295-308, 2022 | 6 | 2022 |
