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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. 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. 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.
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. 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. Epigenetics Chromatin. 2022 Oct 1;15(1):34. doi: 10.1186/s13072-022-00467-2. Epigenetics Chromatin. 2022. PMID: 36180920 Free PMC article. Review.
The cytochrome P450 (CYP) superfamily in cnidarians.
Pankov KV, McArthur AG, Gold DA, Nelson DR, Goldstone JV, Wilson JY. Pankov KV, et al. Sci Rep. 2021 May 10;11(1):9834. doi: 10.1038/s41598-021-88700-y. Sci Rep. 2021. PMID: 33972594 Free PMC article.
Guidelines for human gene nomenclature.
Bruford EA, Braschi B, Denny P, Jones TEM, Seal RL, Tweedie S. Bruford EA, et al. Nat Genet. 2020 Aug;52(8):754-758. doi: 10.1038/s41588-020-0669-3. Nat Genet. 2020. PMID: 32747822 Free PMC article.
A guide to naming human non-coding RNA genes.
Seal RL, Chen LL, Griffiths-Jones S, Lowe TM, Mathews MB, O'Reilly D, Pierce AJ, Stadler PF, Ulitsky I, Wolin SL, Bruford EA. Seal RL, et al. EMBO J. 2020 Mar 16;39(6):e103777. doi: 10.15252/embj.2019103777. Epub 2020 Feb 24. EMBO J. 2020. PMID: 32090359 Free PMC article. Review.
Resolving the Rules of Robustness and Resilience in Biology Across Scales.
Crespi E, Burnap R, Chen J, Das M, Gassman N, Rosa E, Simmons R, Wada H, Wang ZQ, Xiao J, Yang B, Yin J, Goldstone JV. Crespi E, et al. Integr Comp Biol. 2022 Feb 5;61(6):2163-2179. doi: 10.1093/icb/icab183. Integr Comp Biol. 2022. PMID: 34427654 Free PMC article.
Genenames.org: the HGNC and VGNC resources in 2021.
Tweedie S, Braschi B, Gray K, Jones TEM, Seal RL, Yates B, Bruford EA. Tweedie S, et al. Nucleic Acids Res. 2021 Jan 8;49(D1):D939-D946. doi: 10.1093/nar/gkaa980. Nucleic Acids Res. 2021. PMID: 33152070 Free PMC article.
37 results