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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: bruford ea. 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.
The HGNC Database in 2008: a resource for the human genome.
Bruford EA, Lush MJ, Wright MW, Sneddon TP, Povey S, Birney E. Bruford EA, et al. Nucleic Acids Res. 2008 Jan;36(Database issue):D445-8. doi: 10.1093/nar/gkm881. Epub 2007 Nov 4. Nucleic Acids Res. 2008. PMID: 17984084 Free PMC article.
genenames.org: the HGNC resources in 2011.
Seal RL, Gordon SM, Lush MJ, Wright MW, Bruford EA. Seal RL, et al. Among authors: bruford ea. Nucleic Acids Res. 2011 Jan;39(Database issue):D514-9. doi: 10.1093/nar/gkq892. Epub 2010 Oct 6. Nucleic Acids Res. 2011. PMID: 20929869 Free PMC article.
Genenames.org: the HGNC resources in 2013.
Gray KA, Daugherty LC, Gordon SM, Seal RL, Wright MW, Bruford EA. Gray KA, et al. Among authors: bruford ea. Nucleic Acids Res. 2013 Jan;41(Database issue):D545-52. doi: 10.1093/nar/gks1066. Epub 2012 Nov 17. Nucleic Acids Res. 2013. PMID: 23161694 Free PMC article.
Gene family matters: expanding the HGNC resource.
Daugherty LC, Seal RL, Wright MW, Bruford EA. Daugherty LC, et al. Among authors: bruford ea. Hum Genomics. 2012 Jul 5;6(1):4. doi: 10.1186/1479-7364-6-4. Hum Genomics. 2012. PMID: 23245209 Free PMC article. Review.
A review of the new HGNC gene family resource.
Gray KA, Seal RL, Tweedie S, Wright MW, Bruford EA. Gray KA, et al. Among authors: bruford ea. Hum Genomics. 2016 Feb 3;10:6. doi: 10.1186/s40246-016-0062-6. Hum Genomics. 2016. PMID: 26842383 Free PMC article. Review.
Genenames.org: the HGNC and VGNC resources in 2017.
Yates B, Braschi B, Gray KA, Seal RL, Tweedie S, Bruford EA. Yates B, et al. Among authors: bruford ea. Nucleic Acids Res. 2017 Jan 4;45(D1):D619-D625. doi: 10.1093/nar/gkw1033. Epub 2016 Oct 30. Nucleic Acids Res. 2017. PMID: 27799471 Free PMC article.
Genenames.org: the HGNC and VGNC resources in 2019.
Braschi B, Denny P, Gray K, Jones T, Seal R, Tweedie S, Yates B, Bruford E. Braschi B, et al. Nucleic Acids Res. 2019 Jan 8;47(D1):D786-D792. doi: 10.1093/nar/gky930. Nucleic Acids Res. 2019. PMID: 30304474 Free PMC article.
83 results