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Page 1
Expanding ACMG variant classification guidelines into a general framework.
Masson E, Zou WB, Génin E, Cooper DN, Le Gac G, Fichou Y, Pu N, Rebours V, Férec C, Liao Z, Chen JM. Masson E, et al. Among authors: genin e. Hum Genomics. 2022 Aug 16;16(1):31. doi: 10.1186/s40246-022-00407-x. Hum Genomics. 2022. PMID: 35974416 Free PMC article.
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.
Blood transcriptomic biomarker as a surrogate of ischemic brain gene expression.
Ramsay L, Quillé ML, Orset C, de la Grange P, Rousselet E, Férec C, Le Gac G, Génin E, Timsit S. Ramsay L, et al. Among authors: genin e. Ann Clin Transl Neurol. 2019 Sep;6(9):1681-1695. doi: 10.1002/acn3.50861. Epub 2019 Aug 10. Ann Clin Transl Neurol. 2019. PMID: 31400065 Free PMC article.
Rare variant association testing in the non-coding genome.
Bocher O, Génin E. Bocher O, et al. Among authors: genin e. Hum Genet. 2020 Nov;139(11):1345-1362. doi: 10.1007/s00439-020-02190-y. Epub 2020 Jun 4. Hum Genet. 2020. PMID: 32500240 Free article. Review.
307 results