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Page 1
Statistical method to compare massive parallel sequencing pipelines.
Elsensohn MH, Leblay N, Dimassi S, Campan-Fournier A, Labalme A, Roucher-Boulez F, Sanlaville D, Lesca G, Bardel C, Roy P. Elsensohn MH, et al. Among authors: bardel c. BMC Bioinformatics. 2017 Mar 1;18(1):139. doi: 10.1186/s12859-017-1552-9. BMC Bioinformatics. 2017. PMID: 28249565 Free PMC article.
Comparison of two next-generation sequencing kits for diagnosis of epileptic disorders with a user-friendly tool for displaying gene coverage, DeCovA.
Dimassi S, Simonet T, Labalme A, Boutry-Kryza N, Campan-Fournier A, Lamy R, Bardel C, Elsensohn MH, Roucher-Boulez F, Chatron N, Putoux A, de Bellescize J, Ville D, Schaeffer L, Roy P, Mougou-Zerelli S, Saad A, Calender A, Sanlaville D, Lesca G. Dimassi S, et al. Among authors: bardel c. Appl Transl Genom. 2015 Oct 17;7:19-25. doi: 10.1016/j.atg.2015.10.001. eCollection 2015 Dec. Appl Transl Genom. 2015. PMID: 27054081 Free PMC article.
Familial vs. sporadic sarcoidosis: BTNL2 polymorphisms, clinical presentations, and outcomes in a French cohort.
Pacheco Y, Calender A, Israël-Biet D, Roy P, Lebecque S, Cottin V, Bouvry D, Nunes H, Sève P, Pérard L, Devouassoux G, Freymond N, Khouatra C, Wallaert B, Lamy R, Elsensohn MH, Bardel C, Valeyre D; GSF group. Pacheco Y, et al. Among authors: bardel c. Orphanet J Rare Dis. 2016 Dec 3;11(1):165. doi: 10.1186/s13023-016-0546-4. Orphanet J Rare Dis. 2016. PMID: 27914482 Free PMC article.
Whole exome sequencing in three families segregating a pediatric case of sarcoidosis.
Calender A, Rollat Farnier PA, Buisson A, Pinson S, Bentaher A, Lebecque S, Corvol H, Abou Taam R, Houdouin V, Bardel C, Roy P, Devouassoux G, Cottin V, Seve P, Bernaudin JF, Lim CX, Weichhart T, Valeyre D, Pacheco Y, Clement A, Nathan N; in the frame of GSF (Groupe Sarcoïdose France). Calender A, et al. Among authors: bardel c. BMC Med Genomics. 2018 Mar 6;11(1):23. doi: 10.1186/s12920-018-0338-x. BMC Med Genomics. 2018. PMID: 29510755 Free PMC article.
Single, short in-del, and copy number variations detection in monogenic dyslipidemia using a next-generation sequencing strategy.
Marmontel O, Charrière S, Simonet T, Bonnet V, Dumont S, Mahl M, Jacobs C, Nony S, Chabane K, Bozon D, Janin A, Peretti N, Lachaux A, Bardel C, Millat G, Moulin P, Marçais C, Di Filippo M. Marmontel O, et al. Among authors: bardel c. Clin Genet. 2018 Jul;94(1):132-140. doi: 10.1111/cge.13250. Epub 2018 Apr 25. Clin Genet. 2018. PMID: 29572815
The epilepsy phenotypic spectrum associated with a recurrent CUX2 variant.
Chatron N, Møller RS, Champaigne NL, Schneider AL, Kuechler A, Labalme A, Simonet T, Baggett L, Bardel C, Kamsteeg EJ, Pfundt R, Romano C, Aronsson J, Alberti A, Vinci M, Miranda MJ, Lacroix A, Marjanovic D, des Portes V, Edery P, Wieczorek D, Gardella E, Scheffer IE, Mefford H, Sanlaville D, Carvill GL, Lesca G. Chatron N, et al. Among authors: bardel c. Ann Neurol. 2018 May;83(5):926-934. doi: 10.1002/ana.25222. Epub 2018 Apr 30. Ann Neurol. 2018. PMID: 29630738 Free PMC article.
Performance of semiconductor sequencing platform for non-invasive prenatal genetic screening for fetal aneuploidy: results from a multicenter prospective cohort study in a clinical setting.
El Khattabi LA, Brun S, Gueguen P, Chatron N, Guichoux E, Schutz S, Nectoux J, Sorlin A, Quere M, Boudjarane J, Tsatsaris V, Mandelbrot L, Schluth-Bolard C, Dupont JM, Rooryck C; H+ Consortium. El Khattabi LA, et al. Ultrasound Obstet Gynecol. 2019 Aug;54(2):246-254. doi: 10.1002/uog.20112. Ultrasound Obstet Gynecol. 2019. PMID: 30191619 Free article.
Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders.
Schluth-Bolard C, Diguet F, Chatron N, Rollat-Farnier PA, Bardel C, Afenjar A, Amblard F, Amiel J, Blesson S, Callier P, Capri Y, Collignon P, Cordier MP, Coubes C, Demeer B, Chaussenot A, Demurger F, Devillard F, Doco-Fenzy M, Dupont C, Dupont JM, Dupuis-Girod S, Faivre L, Gilbert-Dussardier B, Guerrot AM, Houlier M, Isidor B, Jaillard S, Joly-Hélas G, Kremer V, Lacombe D, Le Caignec C, Lebbar A, Lebrun M, Lesca G, Lespinasse J, Levy J, Malan V, Mathieu-Dramard M, Masson J, Masurel-Paulet A, Mignot C, Missirian C, Morice-Picard F, Moutton S, Nadeau G, Pebrel-Richard C, Odent S, Paquis-Flucklinger V, Pasquier L, Philip N, Plutino M, Pons L, Portnoï MF, Prieur F, Puechberty J, Putoux A, Rio M, Rooryck-Thambo C, Rossi M, Sarret C, Satre V, Siffroi JP, Till M, Touraine R, Toutain A, Toutain J, Valence S, Verloes A, Whalen S, Edery P, Tabet AC, Sanlaville D. Schluth-Bolard C, et al. Among authors: bardel c. J Med Genet. 2019 Aug;56(8):526-535. doi: 10.1136/jmedgenet-2018-105778. Epub 2019 Mar 28. J Med Genet. 2019. PMID: 30923172
56 results