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Year Number of Results
1995 1
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2000 1
2001 2
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2004 3
2005 4
2006 4
2007 4
2008 4
2009 2
2010 2
2011 3
2012 5
2013 7
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89 results

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Page 1
The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.
Stefanucci L, Collins J, Sims MC, Barrio-Hernandez I, Sun L, Burren OS, Perfetto L, Bender I, Callahan TJ, Fleming K, Guerrero JA, Hermjakob H, Martin MJ, Stephenson J, Paneerselvam K, Petrovski S, Porras P, Robinson PN, Wang Q, Watkins X, Frontini M, Laskowski RA, Beltrao P, Di Angelantonio E, Gomez K, Laffan M, Ouwehand WH, Mumford AD, Freson K, Carss K, Downes K, Gleadall N, Megy K, Bruford E, Vuckovic D. Stefanucci L, et al. Among authors: bruford e. Blood. 2023 Dec 14;142(24):2055-2068. doi: 10.1182/blood.2023020118. Blood. 2023. PMID: 37647632 Free PMC article.
Standardized annotation of translated open reading frames.
Mudge JM, Ruiz-Orera J, Prensner JR, Brunet MA, Calvet F, Jungreis I, Gonzalez JM, Magrane M, Martinez TF, Schulz JF, Yang YT, Albà MM, Aspden JL, Baranov PV, Bazzini AA, Bruford E, Martin MJ, Calviello L, Carvunis AR, Chen J, Couso JP, Deutsch EW, Flicek P, Frankish A, Gerstein M, Hubner N, Ingolia NT, Kellis M, Menschaert G, Moritz RL, Ohler U, Roucou X, Saghatelian A, Weissman JS, van Heesch S. Mudge JM, et al. Among authors: bruford e. Nat Biotechnol. 2022 Jul;40(7):994-999. doi: 10.1038/s41587-022-01369-0. Nat Biotechnol. 2022. PMID: 35831657 Free PMC article. No abstract available.
The importance of being the HGNC.
Bruford EA, Braschi B, Haim-Vilmovsky L, Jones TEM, Seal RL, Tweedie S. Bruford EA, et al. Hum Genomics. 2022 Nov 15;16(1):58. doi: 10.1186/s40246-022-00432-w. Hum Genomics. 2022. PMID: 36380364 Free PMC article. Review.
Standardized nomenclature and open science in Human Genomics.
Vasiliou V, Veselkov K, Bruford E, Reichardt JKV. Vasiliou V, et al. Among authors: bruford e. Hum Genomics. 2021 Feb 22;15(1):13. doi: 10.1186/s40246-021-00312-9. Hum Genomics. 2021. PMID: 33612096 Free PMC article. No abstract available.
Selenoprotein Gene Nomenclature.
Gladyshev VN, Arnér ES, Berry MJ, Brigelius-Flohé R, Bruford EA, Burk RF, Carlson BA, Castellano S, Chavatte L, Conrad M, Copeland PR, Diamond AM, Driscoll DM, Ferreiro A, Flohé L, Green FR, Guigó R, Handy DE, Hatfield DL, Hesketh J, Hoffmann PR, Holmgren A, Hondal RJ, Howard MT, Huang K, Kim HY, Kim IY, Köhrle J, Krol A, Kryukov GV, Lee BJ, Lee BC, Lei XG, Liu Q, Lescure A, Lobanov AV, Loscalzo J, Maiorino M, Mariotti M, Sandeep Prabhu K, Rayman MP, Rozovsky S, Salinas G, Schmidt EE, Schomburg L, Schweizer U, Simonović M, Sunde RA, Tsuji PA, Tweedie S, Ursini F, Whanger PD, Zhang Y. Gladyshev VN, et al. Among authors: bruford ea. J Biol Chem. 2016 Nov 11;291(46):24036-24040. doi: 10.1074/jbc.M116.756155. Epub 2016 Sep 19. J Biol Chem. 2016. PMID: 27645994 Free PMC article.
Response to Diaz.
Bögershausen N, Bruford E, Wollnik B. Bögershausen N, et al. Among authors: bruford e. Clin Genet. 2013 Mar;83(3):296. doi: 10.1111/cge.12099. Clin Genet. 2013. PMID: 23414083 No abstract available.
High-quality peptide evidence for annotating non-canonical open reading frames as human proteins.
Deutsch EW, Kok LW, Mudge JM, Ruiz-Orera J, Fierro-Monti I, Sun Z, Abelin JG, Alba MM, Aspden JL, Bazzini AA, Bruford EA, Brunet MA, Calviello L, Carr SA, Carvunis AR, Chothani S, Clauwaert J, Dean K, Faridi P, Frankish A, Hubner N, Ingolia NT, Magrane M, Martin MJ, Martinez TF, Menschaert G, Ohler U, Orchard S, Rackham O, Roucou X, Slavoff SA, Valen E, Wacholder A, Weissman JS, Wu W, Xie Z, Choudhary J, Bassani-Sternberg M, Vizcaíno JA, Ternette N, Moritz RL, Prensner JR, van Heesch S. Deutsch EW, et al. Among authors: bruford ea. bioRxiv [Preprint]. 2024 Sep 9:2024.09.09.612016. doi: 10.1101/2024.09.09.612016. bioRxiv. 2024. PMID: 39314370 Free PMC article. Preprint.
Genenames.org: the HGNC resources in 2023.
Seal RL, Braschi B, Gray K, Jones TEM, Tweedie S, Haim-Vilmovsky L, Bruford EA. Seal RL, et al. Among authors: bruford ea. Nucleic Acids Res. 2023 Jan 6;51(D1):D1003-D1009. doi: 10.1093/nar/gkac888. Nucleic Acids Res. 2023. PMID: 36243972 Free PMC article.
A standardized nomenclature for mammalian histone genes.
Seal RL, Denny P, Bruford EA, Gribkova AK, Landsman D, Marzluff WF, McAndrews M, Panchenko AR, Shaytan AK, Talbert PB. Seal RL, et al. Among authors: bruford ea. Epigenetics Chromatin. 2022 Oct 1;15(1):34. doi: 10.1186/s13072-022-00467-2. Epigenetics Chromatin. 2022. PMID: 36180920 Free PMC article. Review.
89 results