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Genetic Association Analyses Highlight IL6, ALPL, and NAV1 As 3 New Susceptibility Genes Underlying Calcific Aortic Valve Stenosis.
Thériault S, Dina C, Messika-Zeitoun D, Le Scouarnec S, Capoulade R, Gaudreault N, Rigade S, Li Z, Simonet F, Lamontagne M, Clavel MA, Arsenault BJ, Boureau AS, Lecointe S, Baron E, Bonnaud S, Karakachoff M, Charpentier E, Fellah I, Roussel JC, Philippe Verhoye J, Baufreton C, Probst V, Roussel R; D.E.S.I.R. Study Group; Redon R, Dagenais F, Pibarot P, Mathieu P, Le Tourneau T, Bossé Y, Schott JJ. Thériault S, et al. Among authors: karakachoff m. Circ Genom Precis Med. 2019 Oct;12(10):e002617. doi: 10.1161/CIRCGEN.119.002617. Epub 2019 Oct 15. Circ Genom Precis Med. 2019. PMID: 32141789 Free article.
Fine-scale human genetic structure in Western France.
Karakachoff M, Duforet-Frebourg N, Simonet F, Le Scouarnec S, Pellen N, Lecointe S, Charpentier E, Gros F, Cauchi S, Froguel P, Copin N; D.E.S.I.R. Study Group; Le Tourneau T, Probst V, Le Marec H, Molinaro S, Balkau B, Redon R, Schott JJ, Blum MG, Dina C; D E S I R Study Group. Karakachoff M, et al. Eur J Hum Genet. 2015 Jun;23(6):831-6. doi: 10.1038/ejhg.2014.175. Epub 2014 Sep 3. Eur J Hum Genet. 2015. PMID: 25182131 Free PMC article.
Testing the burden of rare variation in arrhythmia-susceptibility genes provides new insights into molecular diagnosis for Brugada syndrome.
Le Scouarnec S, Karakachoff M, Gourraud JB, Lindenbaum P, Bonnaud S, Portero V, Duboscq-Bidot L, Daumy X, Simonet F, Teusan R, Baron E, Violleau J, Persyn E, Bellanger L, Barc J, Chatel S, Martins R, Mabo P, Sacher F, Haïssaguerre M, Kyndt F, Schmitt S, Bézieau S, Le Marec H, Dina C, Schott JJ, Probst V, Redon R. Le Scouarnec S, et al. Among authors: karakachoff m. Hum Mol Genet. 2015 May 15;24(10):2757-63. doi: 10.1093/hmg/ddv036. Epub 2015 Feb 3. Hum Mol Genet. 2015. PMID: 25650408
New insights into mitral valve dystrophy: a Filamin-A genotype-phenotype and outcome study.
Le Tourneau T, Le Scouarnec S, Cueff C, Bernstein D, Aalberts JJJ, Lecointe S, Mérot J, Bernstein JA, Oomen T, Dina C, Karakachoff M, Desal H, Al Habash O, Delling FN, Capoulade R, Suurmeijer AJH, Milan D, Norris RA, Markwald R, Aikawa E, Slaugenhaupt SA, Jeunemaitre X, Hagège A, Roussel JC, Trochu JN, Levine RA, Kyndt F, Probst V, Le Marec H, Schott JJ. Le Tourneau T, et al. Among authors: karakachoff m. Eur Heart J. 2018 Apr 14;39(15):1269-1277. doi: 10.1093/eurheartj/ehx505. Eur Heart J. 2018. PMID: 29020406 Free PMC article.
Rare Coding Variants in ANGPTL6 Are Associated with Familial Forms of Intracranial Aneurysm.
Bourcier R, Le Scouarnec S, Bonnaud S, Karakachoff M, Bourcereau E, Heurtebise-Chrétien S, Menguy C, Dina C, Simonet F, Moles A, Lenoble C, Lindenbaum P, Chatel S, Isidor B, Génin E, Deleuze JF, Schott JJ, Le Marec H; ICAN Study Group; Loirand G, Desal H, Redon R. Bourcier R, et al. Among authors: karakachoff m. Am J Hum Genet. 2018 Jan 4;102(1):133-141. doi: 10.1016/j.ajhg.2017.12.006. Am J Hum Genet. 2018. PMID: 29304371 Free PMC article.
RRAD mutation causes electrical and cytoskeletal defects in cardiomyocytes derived from a familial case of Brugada syndrome.
Belbachir N, Portero V, Al Sayed ZR, Gourraud JB, Dilasser F, Jesel L, Guo H, Wu H, Gaborit N, Guilluy C, Girardeau A, Bonnaud S, Simonet F, Karakachoff M, Pattier S, Scott C, Burel S, Marionneau C, Chariau C, Gaignerie A, David L, Genin E, Deleuze JF, Dina C, Sauzeau V, Loirand G, Baró I, Schott JJ, Probst V, Wu JC, Redon R, Charpentier F, Le Scouarnec S. Belbachir N, et al. Among authors: karakachoff m. Eur Heart J. 2019 Oct 1;40(37):3081-3094. doi: 10.1093/eurheartj/ehz308. Eur Heart J. 2019. PMID: 31114854 Free PMC article.
The genetic history of France.
Saint Pierre A, Giemza J, Alves I, Karakachoff M, Gaudin M, Amouyel P, Dartigues JF, Tzourio C, Monteil M, Galan P, Hercberg S, Mathieson I, Redon R, Génin E, Dina C. Saint Pierre A, et al. Among authors: karakachoff m. Eur J Hum Genet. 2020 Jul;28(7):853-865. doi: 10.1038/s41431-020-0584-1. Epub 2020 Feb 10. Eur J Hum Genet. 2020. PMID: 32042083 Free PMC article.
Correction: The genetic history of France.
Saint Pierre A, Giemza J, Alves I, Karakachoff M, Gaudin M, Amouyel P, Dartigues JF, Tzourio C, Monteil M, Galan P, Hercberg S, Mathieson I, Redon R, Génin E, Dina C. Saint Pierre A, et al. Among authors: karakachoff m. Eur J Hum Genet. 2020 Jul;28(7):988. doi: 10.1038/s41431-020-0604-1. Eur J Hum Genet. 2020. PMID: 32161328 Free PMC article.
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