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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.
A new 165-SNP low-density lipoprotein cholesterol polygenic risk score based on next generation sequencing outperforms previously published scores in routine diagnostics of familial hypercholesterolemia.
Vanhoye X, Bardel C, Rimbert A, Moulin P, Rollat-Farnier PA, Muntaner M, Marmontel O, Dumont S, Charrière S, Cornélis F, Ducluzeau PH, Fonteille A, Nobecourt E, Peretti N, Schillo F, Wargny M, Cariou B, Meirhaeghe A, Di Filippo M. Vanhoye X, et al. Among authors: bardel c. Transl Res. 2023 May;255:119-127. doi: 10.1016/j.trsl.2022.12.002. Epub 2022 Dec 15. Transl Res. 2023. PMID: 36528340
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.
Data mining, neural nets, trees--problems 2 and 3 of Genetic Analysis Workshop 15.
Ziegler A, DeStefano AL, König IR, Bardel C, Brinza D, Bull S, Cai Z, Glaser B, Jiang W, Lee KE, Li CX, Li J, Li X, Majoram P, Meng Y, Nicodemus KK, Platt A, Schwarz DF, Shi W, Shugart YY, Stassen HH, Sun YV, Won S, Wang W, Wahba G, Zagaar UA, Zhao Z. Ziegler A, et al. Among authors: bardel c. Genet Epidemiol. 2007;31 Suppl 1:S51-60. doi: 10.1002/gepi.20280. Genet Epidemiol. 2007. PMID: 18046765
Exome sequencing and pathogenicity-network analysis of five French families implicate mTOR signalling and autophagy in familial sarcoidosis.
Calender A, Lim CX, Weichhart T, Buisson A, Besnard V, Rollat-Farnier PA, Bardel C, Roy P, Cottin V, Devouassoux G, Finat A, Pinson S, Lebecque S, Nunes H, Israel-Biet D, Bentaher A, Valeyre D, Pacheco Y; in the frame of GSF (Group Sarcoidosis France). Calender A, et al. Among authors: bardel c. Eur Respir J. 2019 Aug 1;54(2):1900430. doi: 10.1183/13993003.00430-2019. Print 2019 Aug. Eur Respir J. 2019. PMID: 31023854 Free article. No abstract available.
59 results