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CFTR Cooperative Cis-Regulatory Elements in Intestinal Cells.
Collobert M, Bocher O, Le Nabec A, Génin E, Férec C, Moisan S. Collobert M, et al. Among authors: genin e. Int J Mol Sci. 2021 Mar 5;22(5):2599. doi: 10.3390/ijms22052599. Int J Mol Sci. 2021. PMID: 33807548 Free PMC article.
The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screening.
Thauvin-Robinet C, Munck A, Huet F, Génin E, Bellis G, Gautier E, Audrézet MP, Férec C, Lalau G, Georges MD, Claustres M, Bienvenu T, Gérard B, Boisseau P, Cabet-Bey F, Feldmann D, Clavel C, Bieth E, Iron A, Simon-Bouy B, Costa C, Medina R, Leclerc J, Hubert D, Nové-Josserand R, Sermet-Gaudelus I, Rault G, Flori J, Leroy S, Wizla N, Bellon G, Haloun A, Perez-Martin S, d'Acremont G, Corvol H, Clément A, Houssin E, Binquet C, Bonithon-Kopp C, Alberti-Boulmé C, Morris MA, Faivre L, Goossens M, Roussey M; Collaborating Working Group on R117H; Girodon E. Thauvin-Robinet C, et al. Among authors: genin e. J Med Genet. 2009 Nov;46(11):752-8. doi: 10.1136/jmg.2009.067215. Epub 2009 Jun 29. J Med Genet. 2009. PMID: 19880712
Genome-wide association study identifies TF as a significant modifier gene of iron metabolism in HFE hemochromatosis.
de Tayrac M, Roth MP, Jouanolle AM, Coppin H, le Gac G, Piperno A, Férec C, Pelucchi S, Scotet V, Bardou-Jacquet E, Ropert M, Bouvet R, Génin E, Mosser J, Deugnier Y. de Tayrac M, et al. Among authors: genin e. J Hepatol. 2015 Mar;62(3):664-72. doi: 10.1016/j.jhep.2014.10.017. Epub 2014 Oct 18. J Hepatol. 2015. PMID: 25457201 Free article.
Highlighting the impact of cascade carrier testing in cystic fibrosis families.
Duguépéroux I, L'Hostis C, Audrézet MP, Rault G, Frachon I, Bernard R, Parent P, Blayau M, Schmitt S, Génin E, Férec C, Scotet V. Duguépéroux I, et al. Among authors: genin e. J Cyst Fibros. 2016 Jul;15(4):452-9. doi: 10.1016/j.jcf.2016.02.013. Epub 2016 Mar 22. J Cyst Fibros. 2016. PMID: 27013383 Free article.
Estimating the age of p.(Phe508del) with family studies of geographically distinct European populations and the early spread of cystic fibrosis.
Farrell P, Férec C, Macek M, Frischer T, Renner S, Riss K, Barton D, Repetto T, Tzetis M, Giteau K, Duno M, Rogers M, Levy H, Sahbatou M, Fichou Y, Le Maréchal C, Génin E. Farrell P, et al. Among authors: genin e. Eur J Hum Genet. 2018 Dec;26(12):1832-1839. doi: 10.1038/s41431-018-0234-z. Epub 2018 Aug 8. Eur J Hum Genet. 2018. PMID: 30089827 Free PMC article.
Rare variant association testing for multicategory phenotype.
Bocher O, Marenne G, Saint Pierre A, Ludwig TE, Guey S, Tournier-Lasserve E, Perdry H, Génin E. Bocher O, et al. Among authors: genin e. Genet Epidemiol. 2019 Sep;43(6):646-656. doi: 10.1002/gepi.22210. Epub 2019 May 13. Genet Epidemiol. 2019. PMID: 31087445
307 results