| Year | Citation | Score | |||
|---|---|---|---|---|---|
| 2023 | Mehawej C, Chouery E, Azar-Atallah S, Shebaby W, Delague V, Mansour I, Mustapha M, Lefranc G, Megarbane A. POLD3 deficiency is associated with severe combined immunodeficiency, neurodevelopmental delay, and hearing impairment. Clinical Immunology (Orlando, Fla.). 109326. PMID 37030525 DOI: 10.1016/j.clim.2023.109326 | 0.31 | |||
| 2020 | Grandi FC, Tomasi LD, Mustapha M. Single-Cell RNA Analysis of Type I Spiral Ganglion Neurons Reveals a Lmx1a Population in the Cochlea. Frontiers in Molecular Neuroscience. 13: 83. PMID 32523514 DOI: 10.3389/Fnmol.2020.00083 | 0.364 | |||
| 2019 | Amor DJ, Stephenson SEM, Mustapha M, Mensah MA, Ockeloen CW, Lee WS, Tankard RM, Phelan DG, Shinawi M, de Brouwer APM, Pfundt R, Dowling C, Toler TL, Sutton VR, Agolini E, et al. Pathogenic Variants in GPC4 Cause Keipert Syndrome. American Journal of Human Genetics. PMID 30982611 DOI: 10.1016/J.Ajhg.2019.02.026 | 0.424 | |||
| 2019 | Smeriglio P, Wangsawihardja FV, Leu R, Mustapha M. TSP1 and TSP2 Have Unique and Overlapping Roles in Protecting against Noise-Induced Auditory Synaptopathy. Neuroscience. PMID 30928339 DOI: 10.1016/J.Neuroscience.2019.03.036 | 0.374 | |||
| 2019 | Johnson SL, Safieddine S, Mustapha M, Marcotti W. Hair Cell Afferent Synapses: Function and Dysfunction. Cold Spring Harbor Perspectives in Medicine. PMID 30617058 DOI: 10.1101/Cshperspect.A033175 | 0.325 | |||
| 2017 | Heimsath EG, Yim YI, Mustapha M, Hammer JA, Cheney RE. Myosin-X knockout is semi-lethal and demonstrates that myosin-X functions in neural tube closure, pigmentation, hyaloid vasculature regression, and filopodia formation. Scientific Reports. 7: 17354. PMID 29229982 DOI: 10.1038/S41598-017-17638-X | 0.321 | |||
| 2015 | Sundaresan S, Balasubbu S, Mustapha M. Thyroid hormone is required for the pruning of afferent type II spiral ganglion neurons in the mouse cochlea. Neuroscience. PMID 26592716 DOI: 10.1016/J.Neuroscience.2015.11.020 | 0.342 | |||
| 2015 | Sundaresan S, Kong JH, Fang Q, Salles F, Wangsawihardja F, Ricci AJ, Mustapha M. Thyroid hormone is required for pruning, functioning and long-term maintenance of afferent inner hair cell synapses. The European Journal of Neuroscience. PMID 26386265 DOI: 10.1111/Ejn.13081 | 0.341 | |||
| 2015 | Fang Q, Indzhykulian AA, Mustapha M, Riordan GP, Dolan DF, Friedman TB, Belyantseva IA, Frolenkov GI, Camper SA, Bird JE. The 133-kDa N-terminal domain enables myosin 15 to maintain mechanotransducing stereocilia and is essential for hearing. Elife. 4. PMID 26302205 DOI: 10.7554/Elife.08627 | 0.35 | |||
| 2014 | Calton MA, Lee D, Sundaresan S, Mendus D, Leu R, Wangsawihardja F, Johnson KR, Mustapha M. A lack of immune system genes causes loss in high frequency hearing but does not disrupt cochlear synapse maturation in mice. Plos One. 9: e94549. PMID 24804771 DOI: 10.1371/Journal.Pone.0094549 | 0.407 | |||
| 2014 | Mendus D, Sundaresan S, Grillet N, Wangsawihardja F, Leu R, Müller U, Jones SM, Mustapha M. Thrombospondins 1 and 2 are important for afferent synapse formation and function in the inner ear. The European Journal of Neuroscience. 39: 1256-67. PMID 24460873 DOI: 10.1111/Ejn.12486 | 0.398 | |||
| 2012 | Fang Q, Giordimaina AM, Dolan DF, Camper SA, Mustapha M. Genetic background of Prop1(df) mutants provides remarkable protection against hypothyroidism-induced hearing impairment. Journal of the Association For Research in Otolaryngology : Jaro. 13: 173-84. PMID 22143287 DOI: 10.1007/S10162-011-0302-3 | 0.419 | |||
| 2010 | Ben Saïd M, Hmani-Aifa M, Amar I, Baig SM, Mustapha M, Delmaghani S, Tlili A, Ghorbel A, Ayadi H, Van Camp G, Smith RJ, Tekin M, Masmoudi S. High frequency of the p.R34X mutation in the TMC1 gene associated with nonsyndromic hearing loss is due to founder effects. Genetic Testing and Molecular Biomarkers. 14: 307-11. PMID 20373850 DOI: 10.1089/Gtmb.2009.0174 | 0.392 | |||
| 2009 | Mustapha M, Fang Q, Gong TW, Dolan DF, Raphael Y, Camper SA, Duncan RK. Deafness and permanently reduced potassium channel gene expression and function in hypothyroid Pit1dw mutants. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 29: 1212-23. PMID 19176829 DOI: 10.1523/Jneurosci.4957-08.2009 | 0.42 | |||
| 2008 | Mégarbané A, Mustapha M, Bleik J, Waked N, Delague V, Loiselet J. Exclusion of chromosome 15q21.1 in autosomal‐recessive Weill–Marchesani syndrome in an inbred Lebanese family Clinical Genetics. 58: 473-478. PMID 11149617 DOI: 10.1034/J.1399-0004.2000.580608.X | 0.363 | |||
| 2008 | Mustapha M, Fang Q, Duncan R, Raphael Y, Dolan D, Giordimaina A, Gong T, Lomax M, Johnson K, Camper SA. Hypothyroidism-induced deafness: Defects in neuronal development and sensory cell function Developmental Biology. 319: 466-467. DOI: 10.1016/J.Ydbio.2008.05.016 | 0.305 | |||
| 2007 | Mustapha M, Beyer LA, Izumikawa M, Swiderski DL, Dolan DF, Raphael Y, Camper SA. Whirler mutant hair cells have less severe pathology than shaker 2 or double mutants. Journal of the Association For Research in Otolaryngology : Jaro. 8: 329-37. PMID 17619105 DOI: 10.1007/S10162-007-0083-X | 0.433 | |||
| 2003 | Mburu P, Mustapha M, Varela A, Weil D, El-Amraoui A, Holme RH, Rump A, Hardisty RE, Blanchard S, Coimbra RS, Perfettini I, Parkinson N, Mallon AM, Glenister P, Rogers MJ, et al. Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31. Nature Genetics. 34: 421-8. PMID 12833159 DOI: 10.1038/Ng1208 | 0.474 | |||
| 2003 | Weil D, El-Amraoui A, Masmoudi S, Mustapha M, Kikkawa Y, Lainé S, Delmaghani S, Adato A, Nadifi S, Zina ZB, Hamel C, Gal A, Ayadi H, Yonekawa H, Petit C. Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin. Human Molecular Genetics. 12: 463-71. PMID 12588794 DOI: 10.1093/Hmg/Ddg051 | 0.473 | |||
| 2002 | Medlej-Hashim M, Mustapha M, Chouery E, Weil D, Parronaud J, Salem N, Delague V, Loiselet J, Lathrop M, Petit C, Mégarbané A. Non-syndromic recessive deafness in Jordan: mapping of a new locus to chromosome 9q34.3 and prevalence of DFNB1 mutations. European Journal of Human Genetics : Ejhg. 10: 391-4. PMID 12080392 DOI: 10.1038/Sj.Ejhg.5200813 | 0.46 | |||
| 2002 | Mustapha M, Chouery E, Chardenoux S, Naboulsi M, Paronnaud J, Lemainque A, Mégarbané A, Loiselet J, Weil D, Lathrop M, Petit C. DFNB31, a recessive form of sensorineural hearing loss, maps to chromosome 9q32-34. European Journal of Human Genetics : Ejhg. 10: 210-2. PMID 11973626 DOI: 10.1038/Sj.Ejhg.5200780 | 0.448 | |||
| 2002 | Zwaenepoel I, Mustapha M, Leibovici M, Verpy E, Goodyear R, Liu XZ, Nouaille S, Nance WE, Kanaan M, Avraham KB, Tekaia F, Loiselet J, Lathrop M, Richardson G, Petit C. Otoancorin, an inner ear protein restricted to the interface between the apical surface of sensory epithelia and their overlying acellular gels, is defective in autosomal recessive deafness DFNB22. Proceedings of the National Academy of Sciences of the United States of America. 99: 6240-5. PMID 11972037 DOI: 10.1073/Pnas.082515999 | 0.376 | |||
| 2002 | Mustapha M, Chouery E, Torchard-Pagnez D, Nouaille S, Khrais A, Sayegh FN, Mégarbané A, Loiselet J, Lathrop M, Petit C, Weil D. A novel locus for Usher syndrome type I, USH1G, maps to chromosome 17q24-25. Human Genetics. 110: 348-50. PMID 11941484 DOI: 10.1007/S00439-002-0690-X | 0.448 | |||
| 2002 | Mustapha M, Salem N, Delague V, Chouery E, Ghassibeh M, Rai M, Loiselet J, Petit C, Mégarbané A. Autosomal recessive non-syndromic hearing loss in the Lebanese population: prevalence of the 30delG mutation and report of two novel mutations in the connexin 26 (GJB2) gene. Journal of Medical Genetics. 38: E36. PMID 11584050 DOI: 10.1136/Jmg.38.10.E36 | 0.46 | |||
| 1999 | Yasunaga S, Grati M, Cohen-Salmon M, El-Amraoui A, Mustapha M, Salem N, El-Zir E, Loiselet J, Petit C. A mutation in OTOF , encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness Nature Genetics. 21: 363-369. PMID 10192385 DOI: 10.1038/7693 | 0.435 | |||
| 1999 | Mustapha M, Weil D, Chardenoux S, Elias S, El-Zir E, Beckmann JS, Loiselet J, Petit C. An α-Tectorin Gene Defect Causes a Newly Identified Autosomal Recessive Form of Sensorineural Pre-Lingual Non-Syndromic Deafness, DFNB21 Human Molecular Genetics. 8: 409-412. PMID 9949200 DOI: 10.1093/Hmg/8.3.409 | 0.459 | |||
| 1998 | Mustapha M, Salem N, Weil D, el-Zir E, Loiselet J, Petit C. Identification of a locus on chromosome 7q31, DFNB14, responsible for prelingual sensorineural non-syndromic deafness. European Journal of Human Genetics : Ejhg. 6: 548-51. PMID 9887371 DOI: 10.1038/Sj.Ejhg.5200261 | 0.408 | |||
| 1998 | Mustapha M, Chardenoux S, Nieder A, Salem N, Weissenbach J, el-Zir E, Loiselet J, Petit C. A sensorineural progressive autosomal recessive form of isolated deafness, DFNB13, maps to chromosome 7q34-q36. European Journal of Human Genetics : Ejhg. 6: 245-50. PMID 9781028 DOI: 10.1038/Sj.Ejhg.5200177 | 0.402 | |||
| 1998 | Saouda M, Mansour A, Moglabey YB, Zir EE, Mustapha M, Chaib H, Nehmé A, Mégarbané A, Loiselet J, Petit C, Slim R. The Usher syndrome in the Lebanese population and further refinement of the USH2A candidate region. Human Genetics. 103: 193-198. PMID 9760205 DOI: 10.1007/S004390050806 | 0.416 | |||
| 1998 | Mustapha M, Azar ST, Moglabey YB, Saouda M, Zeitoun G, Loiselet J, Slim R. Further refinement of Pendred syndrome locus by homozygosity analysis to a 0.8 cM interval flanked by D7S496 and D7S2425 Journal of Medical Genetics. 35: 202-204. PMID 9541103 DOI: 10.1136/Jmg.35.3.202 | 0.394 | |||
| 1997 | Denoyelle F, Weil D, Maw MA, Wilcox SA, Lench NJ, Allen-Powell DR, Osborn AH, Dahl HH, Middleton A, Houseman MJ, Dodé C, Marlin S, Boulila-ElGaïed A, Grati M, Ayadi H, ... ... Mustapha M, et al. Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene. Human Molecular Genetics. 6: 2173-7. PMID 9336442 DOI: 10.1093/Hmg/6.12.2173 | 0.452 | |||
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