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Harmonising phenomics information for a better interoperability in the rare disease field.
Maiella S, Olry A, Hanauer M, Lanneau V, Lourghi H, Donadille B, Rodwell C, Köhler S, Seelow D, Jupp S, Parkinson H, Groza T, Brudno M, Robinson PN, Rath A. Maiella S, et al. Among authors: rodwell c. Eur J Med Genet. 2018 Nov;61(11):706-714. doi: 10.1016/j.ejmg.2018.01.013. Epub 2018 Feb 7. Eur J Med Genet. 2018. PMID: 29425702 Review.
Reply to E. Vicente et al.
Rath A, Lambert DM, Olry A, Rodwell C, Le Cam Y. Rath A, et al. Among authors: rodwell c. Eur J Hum Genet. 2021 Jun;29(6):1034-1035. doi: 10.1038/s41431-020-00764-y. Epub 2020 Dec 1. Eur J Hum Genet. 2021. PMID: 33262444 Free PMC article. No abstract available.
The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources.
DiStefano MT, Goehringer S, Babb L, Alkuraya FS, Amberger J, Amin M, Austin-Tse C, Balzotti M, Berg JS, Birney E, Bocchini C, Bruford EA, Coffey AJ, Collins H, Cunningham F, Daugherty LC, Einhorn Y, Firth HV, Fitzpatrick DR, Foulger RE, Goldstein J, Hamosh A, Hurles MR, Leigh SE, Leong IUS, Maddirevula S, Martin CL, McDonagh EM, Olry A, Puzriakova A, Radtke K, Ramos EM, Rath A, Riggs ER, Roberts AM, Rodwell C, Snow C, Stark Z, Tahiliani J, Tweedie S, Ware JS, Weller P, Williams E, Wright CF, Yates TM, Rehm HL. DiStefano MT, et al. Among authors: rodwell c. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4. Genet Med. 2022. PMID: 35507016 Free PMC article.
An analysis of the concept of empowerment.
Rodwell CM. Rodwell CM. J Adv Nurs. 1996 Feb;23(2):305-13. doi: 10.1111/j.1365-2648.1996.tb02672.x. J Adv Nurs. 1996. PMID: 8708244 Review.
The ELIXIR Core Data Resources: fundamental infrastructure for the life sciences.
Drysdale R, Cook CE, Petryszak R, Baillie-Gerritsen V, Barlow M, Gasteiger E, Gruhl F, Haas J, Lanfear J, Lopez R, Redaschi N, Stockinger H, Teixeira D, Venkatesan A; Elixir Core Data Resource Forum; Blomberg N, Durinx C, McEntyre J. Drysdale R, et al. Bioinformatics. 2020 Apr 15;36(8):2636-2642. doi: 10.1093/bioinformatics/btz959. Bioinformatics. 2020. PMID: 31950984 Free PMC article.
14 results