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Blood functional assay for rapid clinical interpretation of germline TP53 variants.
Raad S, Rolain M, Coutant S, Derambure C, Lanos R, Charbonnier F, Bou J, Bouvignies E, Lienard G, Vasseur S, Farrell M, Ingster O, Baert Desurmont S, Kasper E, Bougeard G, Frébourg T, Tournier I. Raad S, et al. Among authors: rolain m. J Med Genet. 2021 Dec;58(12):796-805. doi: 10.1136/jmedgenet-2020-107059. Epub 2020 Oct 13. J Med Genet. 2021. PMID: 33051313 Free PMC article.
uORF-introducing variants in the 5'UTR of the NIPBL gene as a cause of Cornelia de Lange syndrome.
Coursimault J, Rovelet-Lecrux A, Cassinari K, Brischoux-Boucher E, Saugier-Veber P, Goldenberg A, Lecoquierre F, Drouot N, Richard AC, Vera G, Coutant S, Quenez O, Rolain M, Bonnet C, Bronner M, Lecourtois M, Nicolas G. Coursimault J, et al. Among authors: rolain m. Hum Mutat. 2022 Sep;43(9):1239-1248. doi: 10.1002/humu.24384. Epub 2022 May 17. Hum Mutat. 2022. PMID: 35446447
Trypan blue as a surgical adjunct in pediatric cataract surgery.
Fridman G, Rizzuti AE, Liao J, Rolain M, Deutsch JA, Kaufman SC. Fridman G, et al. Among authors: rolain m. J Cataract Refract Surg. 2016 Dec;42(12):1774-1778. doi: 10.1016/j.jcrs.2016.10.012. J Cataract Refract Surg. 2016. PMID: 28007109
MLH1 intronic variants mapping to + 5 position of splice donor sites lead to deleterious effects on RNA splicing.
Piñero TA, Soukarieh O, Rolain M, Alvarez K, López-Köstner F, Torrezan GT, Carraro DM, De Oliveira Nascimento IL, Bomfim TF, Machado-Lopes TMB, Freitas JC, Toralles MB, Sandes KA, Rossi BM, Junior SA, Meira J, Dominguez-Valentin M, Møller P, Vaccaro CA, Martins A, Pavicic WH. Piñero TA, et al. Among authors: rolain m. Fam Cancer. 2020 Oct;19(4):323-336. doi: 10.1007/s10689-020-00182-5. Fam Cancer. 2020. PMID: 32363481