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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: fichou y. Hum Genomics. 2022 Aug 16;16(1):31. doi: 10.1186/s40246-022-00407-x. Hum Genomics. 2022. PMID: 35974416 Free PMC article.
Patients with Asian-type DEL can safely be transfused with RhD-positive blood.
Ji Y, Luo Y, Wen J, Sun Y, Jia S, Ou C, Yang W, Chen J, Ye H, Liu X, Liang Y, Lu Z, Feng Y, Wu X, Xiao M, Mo J, Zhou Z, Wang Z, Liao Z, Chen J, Wei L, Luo G, Santoso S, Fichou Y, Flegel WA, Shao C, Li C, Zhang R, Fu Y. Ji Y, et al. Among authors: fichou y. Blood. 2023 Apr 27;141(17):2141-2150. doi: 10.1182/blood.2022018152. Blood. 2023. PMID: 36638337 Free PMC article.
Mutations in the amiloride-sensitive epithelial sodium channel in patients with cystic fibrosis-like disease.
Azad AK, Rauh R, Vermeulen F, Jaspers M, Korbmacher J, Boissier B, Bassinet L, Fichou Y, des Georges M, Stanke F, De Boeck K, Dupont L, Balascáková M, Hjelte L, Lebecque P, Radojkovic D, Castellani C, Schwartz M, Stuhrmann M, Schwarz M, Skalicka V, de Monestrol I, Girodon E, Férec C, Claustres M, Tümmler B, Cassiman JJ, Korbmacher C, Cuppens H. Azad AK, et al. Among authors: fichou y. Hum Mutat. 2009 Jul;30(7):1093-103. doi: 10.1002/humu.21011. Hum Mutat. 2009. PMID: 19462466
Weak D caused by a founder deletion in the RHD gene.
Fichou Y, Chen JM, Le Maréchal C, Jamet D, Dupont I, Chuteau C, Durousseau C, Loirat MJ, Bailly P, Férec C. Fichou Y, et al. Transfusion. 2012 Nov;52(11):2348-55. doi: 10.1111/j.1537-2995.2012.03606.x. Epub 2012 Mar 15. Transfusion. 2012. PMID: 22420867
96 results