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WES/WGS Reporting of Mutations from Cardiovascular "Actionable" Genes in Clinical Practice: A Key Role for UMD Knowledgebases in the Era of Big Databases.
Pinard A, Salgado D, Desvignes JP, Rai G, Hanna N, Arnaud P, Guien C, Martinez M, Faivre L, Jondeau G, Boileau C, Zaffran S, Béroud C, Collod-Béroud G. Pinard A, et al. Among authors: guien c. Hum Mutat. 2016 Dec;37(12):1308-1317. doi: 10.1002/humu.23119. Epub 2016 Oct 10. Hum Mutat. 2016. PMID: 27647783
[OISO, automatic treatment of patients management in oncogenetics].
Guien C, Fabre A, Lagarde A, Salgado D, Gensollen-Thiriez C, Zattara H, Beroud C, Olschwang S. Guien C, et al. Bull Cancer. 2017 Jul-Aug;104(7-8):602-607. doi: 10.1016/j.bulcan.2017.06.003. Epub 2017 Jul 8. Bull Cancer. 2017. PMID: 28689638 Free article. French.
Pathogenic FBN1 Genetic Variation and Aortic Dissection in Patients With Marfan Syndrome.
Milleron O, Arnoult F, Delorme G, Detaint D, Pellenc Q, Raffoul R, Tchitchinadze M, Langeois M, Guien C, Beroud C, Ropers J, Hanna N, Arnaud P, Gouya L, Boileau C, Jondeau G. Milleron O, et al. Among authors: guien c. J Am Coll Cardiol. 2020 Mar 3;75(8):843-853. doi: 10.1016/j.jacc.2019.12.043. J Am Coll Cardiol. 2020. PMID: 32130918 Free article.
Standardisation of pathogenicity classification for somatic alterations in solid tumours and haematologic malignancies.
Koeppel F, Muller E, Harlé A, Guien C, Sujobert P, Trabelsi Grati O, Kosmider O, Miguet L, Mauvieux L, Cayre A, Salgado D, Preudhomme C, Karayan-Tapon L, Tachon G, Coulet F, Lespagnol A, Beroud C, Leroy K, Rouleau E, Soubeyran I. Koeppel F, et al. Among authors: guien c. Eur J Cancer. 2021 Dec;159:1-15. doi: 10.1016/j.ejca.2021.08.047. Epub 2021 Oct 23. Eur J Cancer. 2021. PMID: 34700215
Convergence of patient- and physician-reported outcomes in the French National Registry of Facioscapulohumeral Dystrophy.
Sanson B, Stalens C, Guien C, Villa L, Eng C, Rabarimeriarijaona S, Bernard R, Cintas P, Solé G, Tiffreau V, Echaniz-Laguna A, Magot A, Juntas Morales R, Boyer FC, Nadaj-Pakleza A, Jacquin-Piques A, Béroud C, Sacconi S; French FSHD registry collaboration group. Sanson B, et al. Among authors: guien c. Orphanet J Rare Dis. 2022 Mar 2;17(1):96. doi: 10.1186/s13023-021-01793-6. Orphanet J Rare Dis. 2022. PMID: 35236385 Free PMC article.
45 results