| 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 | 1205 | 1995 |
| 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 | 521 | 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 | 496 | 1997 |
| 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 | 494 | 2002 |
| A non–syndromic form of neurosensory, recessive deafness maps to the pericentromeric region of chromosome 13q P Guilford, SB Arab, S Blanchard, J Levilliers, J Weissenbach, A Belkahia, ... Nature genetics 6 (1), 24-28, 1994 | 383 | 1994 |
| Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31 P Mburu, M Mustapha, A Varela, D Weil, A El-Amraoui, RH Holme, ... Nature genetics 34 (4), 421-428, 2003 | 372 | 2003 |
| Heterogeneity in the mutations responsible for X chromosome-linked Kallmann syndrome JP Hardelin, J Levilliers, S Blanchard, JC Carel, M Leutenegger, ... Human molecular genetics 2 (4), 373-377, 1993 | 264 | 1993 |
| X chromosome-linked Kallmann syndrome: stop mutations validate the candidate gene. JP Hardelin, J Levilliers, I del Castillo, M Cohen-Salmon, R Legouis, ... Proceedings of the National Academy of Sciences 89 (17), 8190-8194, 1992 | 231 | 1992 |
| MyRIP, a novel Rab effector, enables myosin VIIa recruitment to retinal melanosomes A El‐Amraoui, JS Schonn, P Küssel‐Andermann, S Blanchard, C Desnos, ... EMBO reports, 2002 | 204 | 2002 |
| Mutations in a new gene encoding a protein of the hair bundle cause non-syndromic deafness at the DFNB16 locus E Verpy, S Masmoudi, I Zwaenepoel, M Leibovici, TP Hutchin, ... Nature genetics 29 (3), 345-349, 2001 | 204 | 2001 |
| Human myosin VIIA responsible for the Usher 1B syndrome: a predicted membrane-associated motor protein expressed in developing sensory epithelia. D Weil, G Levy, I Sahly, F Levi-Acobas, S Blanchard, A El-Amraoui, ... Proceedings of the National Academy of Sciences 93 (8), 3232-3237, 1996 | 203 | 1996 |
| A human gene responsible for neurosensory, non-syndromic recessive deafness is a candidate homologue of the mouse sh-1 gene P Guilford, H Ayadi, S Blanchard, H Chaib, DL Paslier, J Weissenbach, ... Human molecular genetics 3 (6), 989-993, 1994 | 168 | 1994 |
| Structure of the X–linked Kallmann syndrome gene and its homologous pseudogene on the Y chromosome I del Castillo, M Cohen-Salmon, S Blanchard, G Lutfalla, C Petit Nature Genetics 2 (4), 305-310, 1992 | 141 | 1992 |
| Myosin VIIA gene: heterogeneity of the mutations responsible for Usher syndrome type IB G Lévy, F Levi-Acobas, S Blanchard, S Gerber, D Larget-Piet, V Chenal, ... Human molecular genetics 6 (1), 111-116, 1997 | 116 | 1997 |
| Modeling neuronal defects associated with a lysosomal disorder using patient-derived induced pluripotent stem cells T Lemonnier, S Blanchard, D Toli, E Roy, S Bigou, R Froissart, I Rouvet, ... Human molecular genetics 20 (18), 3653-3666, 2011 | 100 | 2011 |
| Alsin/Rac1 signaling controls survival and growth of spinal motoneurons A Jacquier, E Buhler, MKE Schäfer, D Bohl, S Blanchard, C Beclin, ... Annals of neurology 60 (1), 105-117, 2006 | 87 | 2006 |
| Townes‐Brocks syndrome: Detection of a SALL1 mutation hot spot and evidence for a position effect in one patient S Marlin, S Blanchard, R Slim, D Lacombe, F Denoyelle, JL Alessandri, ... Human mutation 14 (5), 377-386, 1999 | 79 | 1999 |
| A survey of polypeptide deformylase function throughout the eubacterial lineage D Mazel, E Coı̈c, S Blanchard, W Saurin, P Marlière Journal of molecular biology 266 (5), 939-949, 1997 | 76 | 1997 |
| Immunohistochemical toolkit for tracking and quantifying xenotransplanted human stem cells J Allard, K Li, XM Lopez, S Blanchard, P Barbot, S Rorive, ... Regenerative medicine 9 (4), 437-452, 2014 | 56 | 2014 |
| Identification of three novel mutations in the USH1C gene and detection of thirty‐one polymorphisms used for haplotype analysis I Zwaenepoel, E Verpy, S Blanchard, M Meins, E Apfelstedt‐Sylla, A Gal, ... Human mutation 17 (1), 34-41, 2001 | 48 | 2001 |
