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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: aschard h. 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.
17q21 variants modify the association between early respiratory infections and asthma.
Smit LA, Bouzigon E, Pin I, Siroux V, Monier F, Aschard H, Bousquet J, Gormand F, Just J, Le Moual N, Nadif R, Scheinmann P, Vervloet D, Lathrop M, Demenais F, Kauffmann F; EGEA Cooperative Group. Smit LA, et al. Among authors: aschard h. Eur Respir J. 2010 Jul;36(1):57-64. doi: 10.1183/09031936.00154509. Epub 2009 Dec 23. Eur Respir J. 2010. PMID: 20032010 Free article.
Making the Most of Clumping and Thresholding for Polygenic Scores.
Privé F, Vilhjálmsson BJ, Aschard H, Blum MGB. Privé F, et al. Among authors: aschard h. Am J Hum Genet. 2019 Dec 5;105(6):1213-1221. doi: 10.1016/j.ajhg.2019.11.001. Epub 2019 Nov 21. Am J Hum Genet. 2019. PMID: 31761295 Free PMC article.
Immune Profiling Enables Stratification of Patients With Active Tuberculosis Disease or Mycobacterium tuberculosis Infection.
Duffy D, Nemes E, Llibre A, Rouilly V, Musvosvi M, Smith N, Filander E, Africa H, Mabwe S, Jaxa L, Charbit B, Mulenga H, Tameris M, Walzl G, Malherbe S, Thomas S, Hatherill M, Bilek N, Scriba TJ, Albert ML; Milieu Intérieur Consortium. Duffy D, et al. Clin Infect Dis. 2021 Nov 2;73(9):e3398-e3408. doi: 10.1093/cid/ciaa1562. Clin Infect Dis. 2021. PMID: 33059361 Free PMC article.
Enhanced in vivo fitness of carbapenem-resistant oprD mutants of Pseudomonas aeruginosa revealed through high-throughput sequencing.
Skurnik D, Roux D, Cattoir V, Danilchanka O, Lu X, Yoder-Himes DR, Han K, Guillard T, Jiang D, Gaultier C, Guerin F, Aschard H, Leclercq R, Mekalanos JJ, Lory S, Pier GB. Skurnik D, et al. Among authors: aschard h. Proc Natl Acad Sci U S A. 2013 Dec 17;110(51):20747-52. doi: 10.1073/pnas.1221552110. Epub 2013 Nov 18. Proc Natl Acad Sci U S A. 2013. PMID: 24248354 Free PMC article. Clinical Trial.
125 results