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 |
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 | 743 | 2006 |
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 | 690 | 1999 |
Neurotransmitters: The critical modulators regulating gut–brain axis R Mittal, LH Debs, AP Patel, D Nguyen, K Patel, G O'Connor, M Grati, ... Journal of cellular physiology 232 (9), 2359-2372, 2017 | 583 | 2017 |
Current concepts in the pathogenesis and treatment of chronic suppurative otitis media R Mittal, CV Lisi, R Gerring, J Mittal, K Mathee, G Narasimhan, RK Azad, ... Journal of medical microbiology 64 (10), 1103-1116, 2015 | 303 | 2015 |
OTOF encodes multiple long and short isoforms: genetic evidence that the long ones underlie recessive deafness DFNB9 S Yasunaga, M Grati, S Chardenoux, TN Smith, TB Friedman, AK Lalwani, ... The American Journal of Human Genetics 67 (3), 591-600, 2000 | 238 | 2000 |
Myosin VIIa and sans localization at stereocilia upper tip-link density implicates these Usher syndrome proteins in mechanotransduction M Grati, B Kachar Proceedings of the National Academy of Sciences 108 (28), 11476-11481, 2011 | 199 | 2011 |
Regulation of stereocilia length by myosin XVa and whirlin depends on the actin-regulatory protein Eps8 U Manor, A Disanza, MH Grati, L Andrade, H Lin, PP Di Fiore, G Scita, ... Current Biology 21 (2), 167-172, 2011 | 197 | 2011 |
Intricate functions of matrix metalloproteinases in physiological and pathological conditions R Mittal, AP Patel, LH Debs, D Nguyen, K Patel, M Grati, J Mittal, D Yan, ... Journal of cellular physiology 231 (12), 2599-2621, 2016 | 184 | 2016 |
Mutation of the ATP-gated P2X2 receptor leads to progressive hearing loss and increased susceptibility to noise D Yan, Y Zhu, T Walsh, D Xie, H Yuan, A Sirmaci, T Fujikawa, ACY Wong, ... Proceedings of the national academy of sciences 110 (6), 2228-2233, 2013 | 173 | 2013 |
Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents D Yan, D Tekin, G Bademci, J Foster, FB Cengiz, A Kannan-Sundhari, ... Human genetics 135, 953-961, 2016 | 134 | 2016 |
Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis C Bonnet, M Grati, S Marlin, J Levilliers, JP Hardelin, M Parodi, ... Orphanet journal of rare diseases 6, 1-19, 2011 | 128 | 2011 |
A missense mutation in DCDC2 causes human recessive deafness DFNB66, likely by interfering with sensory hair cell and supporting cell cilia length regulation M Grati, I Chakchouk, Q Ma, M Bensaid, A Desmidt, N Turki, D Yan, ... Human molecular genetics 24 (9), 2482-2491, 2015 | 102 | 2015 |
Pendred syndrome: Phenotypic variability in two families carrying the same PDS missense mutation S Masmoudi, I Charfedine, M Hmani, M Grati, AM Ghorbel, ... American journal of medical genetics 90 (1), 38-44, 2000 | 101 | 2000 |
Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non‐syndromic autosomal recessive deafness S Masmoudi, SE Antonarakis, T Schwede, AM Ghorbel, M Gratri, ... Human mutation 18 (2), 101-108, 2001 | 78 | 2001 |
FAM65B is a membrane-associated protein of hair cell stereocilia required for hearing O Diaz-Horta, A Subasioglu-Uzak, M Grati, A DeSmidt, J Foster, L Cao, ... Proceedings of the National Academy of Sciences 111 (27), 9864-9868, 2014 | 77 | 2014 |
Stereocilia-staircase spacing is influenced by myosin III motors and their cargos espin-1 and espin-like S Ebrahim, MR Avenarius, M Grati, JF Krey, AM Windsor, AD Sousa, ... Nature communications 7 (1), 10833, 2016 | 76 | 2016 |
Role of innate immunity in the pathogenesis of otitis media R Mittal, J Kodiyan, R Gerring, K Mathee, JD Li, M Grati, XZ Liu International Journal of Infectious Diseases 29, 259-267, 2014 | 76 | 2014 |
Molecular determinants for differential membrane trafficking of PMCA1 and PMCA2 in mammalian hair cells M Grati, N Aggarwal, EE Strehler, RJ Wenthold Journal of cell science 119 (14), 2995-3007, 2006 | 76 | 2006 |
Localization of PDZD7 to the stereocilia ankle-link associates this scaffolding protein with the Usher syndrome protein network M Grati, JB Shin, MD Weston, J Green, MA Bhat, PG Gillespie, B Kachar Journal of Neuroscience 32 (41), 14288-14293, 2012 | 69 | 2012 |