日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Genenames.org: the HGNC and PGNC resources in 2026

Genenames.org:2026 年的 HGNC 和 PGNC 资源

Seal, Ruth L; Braschi, Bryony; Gray, Kristian; McClay, James; Tweedie, Susan; Bruford, Elspeth A

Genenames.org: the HGNC resources in 2023

Genenames.org:2023 年 HGNC 资源

Seal, Ruth L; Braschi, Bryony; Gray, Kristian; Jones, Tamsin E M; Tweedie, Susan; Haim-Vilmovsky, Liora; Bruford, Elspeth A

The VGNC: expanding standardized vertebrate gene nomenclature

VGNC:扩展标准化脊椎动物基因命名法

Jones, Tamsin E M; Yates, Bethan; Braschi, Bryony; Gray, Kristian; Tweedie, Susan; Seal, Ruth L; Bruford, Elspeth A

Genenames.org: the HGNC and VGNC resources in 2021

Genenames.org:2021 年 HGNC 和 VGNC 资源

Tweedie, Susan; Braschi, Bryony; Gray, Kristian; Jones, Tamsin E M; Seal, Ruth L; Yates, Bethan; Bruford, Elspeth A

Genenames.org: the HGNC and VGNC resources in 2017

Genenames.org:2017 年的 HGNC 和 VGNC 资源

Yates, Bethan; Braschi, Bryony; Gray, Kristian A; Seal, Ruth L; Tweedie, Susan; Bruford, Elspeth A

A review of the new HGNC gene family resource

对新的HGNC基因家族资源的回顾

Gray, Kristian A; Seal, Ruth L; Tweedie, Susan; Wright, Mathew W; Bruford, Elspeth A

The BioMart community portal: an innovative alternative to large, centralized data repositories

BioMart社区门户:大型集中式数据存储库的创新替代方案

Smedley, Damian; Haider, Syed; Durinck, Steffen; Pandini, Luca; Provero, Paolo; Allen, James; Arnaiz, Olivier; Awedh, Mohammad Hamza; Baldock, Richard; Barbiera, Giulia; Bardou, Philippe; Beck, Tim; Blake, Andrew; Bonierbale, Merideth; Brookes, Anthony J; Bucci, Gabriele; Buetti, Iwan; Burge, Sarah; Cabau, Cédric; Carlson, Joseph W; Chelala, Claude; Chrysostomou, Charalambos; Cittaro, Davide; Collin, Olivier; Cordova, Raul; Cutts, Rosalind J; Dassi, Erik; Di Genova, Alex; Djari, Anis; Esposito, Anthony; Estrella, Heather; Eyras, Eduardo; Fernandez-Banet, Julio; Forbes, Simon; Free, Robert C; Fujisawa, Takatomo; Gadaleta, Emanuela; Garcia-Manteiga, Jose M; Goodstein, David; Gray, Kristian; Guerra-Assunção, José Afonso; Haggarty, Bernard; Han, Dong-Jin; Han, Byung Woo; Harris, Todd; Harshbarger, Jayson; Hastings, Robert K; Hayes, Richard D; Hoede, Claire; Hu, Shen; Hu, Zhi-Liang; Hutchins, Lucie; Kan, Zhengyan; Kawaji, Hideya; Keliet, Aminah; Kerhornou, Arnaud; Kim, Sunghoon; Kinsella, Rhoda; Klopp, Christophe; Kong, Lei; Lawson, Daniel; Lazarevic, Dejan; Lee, Ji-Hyun; Letellier, Thomas; Li, Chuan-Yun; Lio, Pietro; Liu, Chu-Jun; Luo, Jie; Maass, Alejandro; Mariette, Jerome; Maurel, Thomas; Merella, Stefania; Mohamed, Azza Mostafa; Moreews, Francois; Nabihoudine, Ibounyamine; Ndegwa, Nelson; Noirot, Céline; Perez-Llamas, Cristian; Primig, Michael; Quattrone, Alessandro; Quesneville, Hadi; Rambaldi, Davide; Reecy, James; Riba, Michela; Rosanoff, Steven; Saddiq, Amna Ali; Salas, Elisa; Sallou, Olivier; Shepherd, Rebecca; Simon, Reinhard; Sperling, Linda; Spooner, William; Staines, Daniel M; Steinbach, Delphine; Stone, Kevin; Stupka, Elia; Teague, Jon W; Dayem Ullah, Abu Z; Wang, Jun; Ware, Doreen; Wong-Erasmus, Marie; Youens-Clark, Ken; Zadissa, Amonida; Zhang, Shi-Jian; Kasprzyk, Arek

Vive la différence: naming structural variants in the human reference genome

差异万岁:人类参考基因组结构变异的命名

Seal, Ruth L; Wright, Mathew W; Gray, Kristian A; Bruford, Elspeth A

Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor

编码泛素E3连接酶亚基的CUL4B基因突变会导致一种X连锁智力低下综合征,该综合征伴有攻击性爆发、癫痫发作、相对性巨头畸形、中心性肥胖、性腺功能减退、高弓足和震颤。

Tarpey, Patrick S; Raymond, F Lucy; O'Meara, Sarah; Edkins, Sarah; Teague, Jon; Butler, Adam; Dicks, Ed; Stevens, Claire; Tofts, Calli; Avis, Tim; Barthorpe, Syd; Buck, Gemma; Cole, Jennifer; Gray, Kristian; Halliday, Kelly; Harrison, Rachel; Hills, Katy; Jenkinson, Andrew; Jones, David; Menzies, Andrew; Mironenko, Tatiana; Perry, Janet; Raine, Keiran; Richardson, David; Shepherd, Rebecca; Small, Alexandra; Varian, Jennifer; West, Sofie; Widaa, Sara; Mallya, Uma; Moon, Jenny; Luo, Ying; Holder, Susan; Smithson, Sarah F; Hurst, Jane A; Clayton-Smith, Jill; Kerr, Bronwyn; Boyle, Jackie; Shaw, Marie; Vandeleur, Lucianne; Rodriguez, Jayson; Slaugh, Rachel; Easton, Douglas F; Wooster, Richard; Bobrow, Martin; Srivastava, Anand K; Stevenson, Roger E; Schwartz, Charles E; Turner, Gillian; Gecz, Jozef; Futreal, P Andrew; Stratton, Michael R; Partington, Michael

Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a Marfanoid habitus

ZDHHC9基因的突变(该基因编码NRAS和HRAS的棕榈酰转移酶)会导致X连锁智力低下,并伴有马凡氏体征。

Raymond, F Lucy; Tarpey, Patrick S; Edkins, Sarah; Tofts, Calli; O'Meara, Sarah; Teague, Jon; Butler, Adam; Stevens, Claire; Barthorpe, Syd; Buck, Gemma; Cole, Jennifer; Dicks, Ed; Gray, Kristian; Halliday, Kelly; Hills, Katy; Hinton, Jonathon; Jones, David; Menzies, Andrew; Perry, Janet; Raine, Keiran; Shepherd, Rebecca; Small, Alexandra; Varian, Jennifer; Widaa, Sara; Mallya, Uma; Moon, Jenny; Luo, Ying; Shaw, Marie; Boyle, Jackie; Kerr, Bronwyn; Turner, Gillian; Quarrell, Oliver; Cole, Trevor; Easton, Douglas F; Wooster, Richard; Bobrow, Martin; Schwartz, Charles E; Gecz, Jozef; Stratton, Michael R; Futreal, P Andrew