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An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients.
Bonnet C, Riahi Z, Chantot-Bastaraud S, Smagghe L, Letexier M, Marcaillou C, Lefèvre GM, Hardelin JP, El-Amraoui A, Singh-Estivalet A, Mohand-Saïd S, Kohl S, Kurtenbach A, Sliesoraityte I, Zobor D, Gherbi S, Testa F, Simonelli F, Banfi S, Fakin A, Glavač D, Jarc-Vidmar M, Zupan A, Battelino S, Martorell Sampol L, Claveria MA, Catala Mora J, Dad S, Møller LB, Rodriguez Jorge J, Hawlina M, Auricchio A, Sahel JA, Marlin S, Zrenner E, Audo I, Petit C. Bonnet C, et al. Among authors: lefevre gm. Eur J Hum Genet. 2016 Dec;24(12):1730-1738. doi: 10.1038/ejhg.2016.99. Epub 2016 Jul 27. Eur J Hum Genet. 2016. PMID: 27460420 Free PMC article.
Ultrarare heterozygous pathogenic variants of genes causing dominant forms of early-onset deafness underlie severe presbycusis.
Boucher S, Tai FWJ, Delmaghani S, Lelli A, Singh-Estivalet A, Dupont T, Niasme-Grare M, Michel V, Wolff N, Bahloul A, Bouyacoub Y, Bouccara D, Fraysse B, Deguine O, Collet L, Thai-Van H, Ionescu E, Kemeny JL, Giraudet F, Lavieille JP, Devèze A, Roudevitch-Pujol AL, Vincent C, Renard C, Franco-Vidal V, Thibult-Apt C, Darrouzet V, Bizaguet E, Coez A, Aschard H, Michalski N, Lefevre GM, Aubois A, Avan P, Bonnet C, Petit C. Boucher S, et al. Among authors: lefevre gm. Proc Natl Acad Sci U S A. 2020 Dec 8;117(49):31278-31289. doi: 10.1073/pnas.2010782117. Epub 2020 Nov 23. Proc Natl Acad Sci U S A. 2020. PMID: 33229591 Free PMC article.
Stereocilin-deficient mice reveal the origin of cochlear waveform distortions.
Verpy E, Weil D, Leibovici M, Goodyear RJ, Hamard G, Houdon C, Lefèvre GM, Hardelin JP, Richardson GP, Avan P, Petit C. Verpy E, et al. Among authors: lefevre gm. Nature. 2008 Nov 13;456(7219):255-8. doi: 10.1038/nature07380. Epub 2008 Oct 8. Nature. 2008. PMID: 18849963 Free PMC article.
Harmonin-b, an actin-binding scaffold protein, is involved in the adaptation of mechanoelectrical transduction by sensory hair cells.
Michalski N, Michel V, Caberlotto E, Lefèvre GM, van Aken AF, Tinevez JY, Bizard E, Houbron C, Weil D, Hardelin JP, Richardson GP, Kros CJ, Martin P, Petit C. Michalski N, et al. Among authors: lefevre gm. Pflugers Arch. 2009 Nov;459(1):115-30. doi: 10.1007/s00424-009-0711-x. Pflugers Arch. 2009. PMID: 19756723 Free PMC article.
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