| Defective myosin VIIA gene responsible for Usher syndrome type IB D Well, S Blanchard, J Kaplan, P Guilford, F Gibson, J Walsh, P Mburu, ... Nature 374 (6517), 60-61, 1995 | 1222 | 1995 |
| A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome N Neyroud, F Tesson, I Denjoy, M Leibovici, C Donger, J Barhanin, ... Nature genetics 15 (2), 186-189, 1997 | 1094 | 1997 |
| KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness C Kubisch, BC Schroeder, T Friedrich, B Lütjohann, A El-Amraoui, ... Cell 96 (3), 437-446, 1999 | 1091 | 1999 |
| Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome C Dodé, J Levilliers, JM Dupont, A De Paepe, N Le Dû, ... Nature genetics 33 (4), 463-465, 2003 | 988 | 2003 |
| Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene F Denoyelle, D Weil, MA Maw, SA Wilcox, NJ Lench, DR Allen-Powell, ... Human molecular genetics 6 (12), 2173-2177, 1997 | 845 | 1997 |
| The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules R Legouis, JP Hardelin, J Levilliers, JM Claverie, S Compain, V Wunderle, ... Cell 67 (2), 423-435, 1991 | 798 | 1991 |
| Otoferlin, defective in a human deafness form, is essential for exocytosis at the auditory ribbon synapse I Roux, S Safieddine, R Nouvian, M Grati, MC Simmler, A Bahloul, ... Cell 127 (2), 277-289, 2006 | 755 | 2006 |
| A human homologue of the Drosophila eyes absent gene underlies Branchio-Oto-Renal (BOR) syndrome and identifies a novel gene family S Abdelhak, V Kalatzis, R Heilig, S Compain, D Samson, C Vincent, ... Nature genetics 15 (2), 157-164, 1997 | 745 | 1997 |
| A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness S Yasunaga, M Cohen-Salmon, A El-Amraoui, M Mustapha, N Salem, ... Nature genetics 21 (4), 363-369, 1999 | 695 | 1999 |
| Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: implications for genetic counselling F Denoyelle, S Marlin, D Weil, L Moatti, P Chauvin, ÉN Garabédian, ... The Lancet 353 (9161), 1298-1303, 1999 | 609 | 1999 |
| Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2 C Dodé, L Teixeira, J Levilliers, C Fouveaut, P Bouchard, ML Kottler, ... PLoS genetics 2 (10), e175, 2006 | 547 | 2006 |
| A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C E Verpy, M Leibovici, I Zwaenepoel, XZ Liu, A Gal, N Salem, A Mansour, ... Nature genetics 26 (1), 51-55, 2000 | 530 | 2000 |
| KCNQ4, a K+ channel mutated in a form of dominant deafness, is expressed in the inner ear and the central auditory pathway T Kharkovets, JP Hardelin, S Safieddine, M Schweizer, A El-Amraoui, ... Proceedings of the National Academy of Sciences 97 (8), 4333-4338, 2000 | 511 | 2000 |
| The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene D Weil, P Küssel, S Blanchard, G Lévy, F Levi-Acobas, M Drira, H Ayadi, ... Nature genetics 16 (2), 191-193, 1997 | 504 | 1997 |
| SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1–SIX1–DNA complexes RG Ruf, PX Xu, D Silvius, EA Otto, F Beekmann, UT Muerb, S Kumar, ... Proceedings of the National Academy of Sciences 101 (21), 8090-8095, 2004 | 503 | 2004 |
| Targeted ablation of connexin26 in the inner ear epithelial gap junction network causes hearing impairment and cell death M Cohen-Salmon, T Ott, V Michel, JP Hardelin, I Perfettini, M Eybalin, ... Current Biology 12 (13), 1106-1111, 2002 | 503 | 2002 |
| Myosin VIIa, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundle B Boëda, A El‐Amraoui, A Bahloul, R Goodyear, L Daviet, S Blanchard, ... The EMBO journal, 2002 | 500 | 2002 |
| Molecular genetics of hearing loss C Petit, J Levilliers, JP Hardelin Annual review of genetics 35 (1), 589-645, 2001 | 423 | 2001 |
| Connexin30 (Gjb6)-deficiency causes severe hearing impairment and lack of endocochlear potential B Teubner, V Michel, J Pesch, J Lautermann, M Cohen-Salmon, G Söhl, ... Human molecular genetics 12 (1), 13-21, 2003 | 405 | 2003 |
| Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy S Delmaghani, FJ del Castillo, V Michel, M Leibovici, A Aghaie, U Ron, ... Nature genetics 38 (7), 770-778, 2006 | 397 | 2006 |
