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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: singh estivalet a. 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: singh estivalet a. 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.
Single-cell transcriptomic profiling of the mouse cochlea: An atlas for targeted therapies.
Jean P, Wong Jun Tai F, Singh-Estivalet A, Lelli A, Scandola C, Megharba S, Schmutz S, Roux S, Mechaussier S, Sudres M, Mouly E, Heritier AV, Bonnet C, Mallet A, Novault S, Libri V, Petit C, Michalski N. Jean P, et al. Among authors: singh estivalet a. Proc Natl Acad Sci U S A. 2023 Jun 27;120(26):e2221744120. doi: 10.1073/pnas.2221744120. Epub 2023 Jun 20. Proc Natl Acad Sci U S A. 2023. PMID: 37339214 Free PMC article.
Fetal PGC-1α overexpression programs adult pancreatic β-cell dysfunction.
Valtat B, Riveline JP, Zhang P, Singh-Estivalet A, Armanet M, Venteclef N, Besseiche A, Kelly DP, Tronche F, Ferré P, Gautier JF, Bréant B, Blondeau B. Valtat B, et al. Among authors: singh estivalet a. Diabetes. 2013 Apr;62(4):1206-16. doi: 10.2337/db12-0314. Epub 2012 Dec 28. Diabetes. 2013. PMID: 23274887 Free PMC article.