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

Saturation genome editing of DDX3X clarifies pathogenicity of germline and somatic variation

DDX3X 的饱和基因组编辑阐明了种系和体细胞变异的致病性

Elizabeth J Radford #,Hong-Kee Tan #,Malin H L Andersson,James D Stephenson,Eugene J Gardner,Holly Ironfield,Andrew J Waters,Daniel Gitterman,Sarah Lindsay,Federico Abascal,Iñigo Martincorena,Anna Kolesnik-Taylor,Elise Ng-Cordell,Helen V Firth,Kate Baker,John R B Perry,David J Adams,Sebastian S Gerety,Matthew E Hurles

FIRRM/C1orf112 mediates resolution of homologous recombination intermediates in response to DNA interstrand crosslinks

FIRRM/C1orf112 介导 DNA 链间交联反应中同源重组中间体的分解

Abdelghani Mazouzi, Sarah C Moser, Federico Abascal, Bram van den Broek, Martin Del Castillo Velasco-Herrera, Ingrid van der Heijden, Maarten Hekkelman, Anne Paulien Drenth, Eline van der Burg, Lona J Kroese, Kees Jalink, David J Adams, Jos Jonkers, Thijn R Brummelkamp

The longitudinal dynamics and natural history of clonal haematopoiesis

克隆造血的纵向动态和自然史

Margarete A Fabre #, José Guilherme de Almeida #, Edoardo Fiorillo, Emily Mitchell, Aristi Damaskou, Justyna Rak, Valeria Orrù, Michele Marongiu, Michael Spencer Chapman, M S Vijayabaskar, Joanna Baxter, Claire Hardy, Federico Abascal, Nicholas Williams, Jyoti Nangalia, Iñigo Martincorena, Peter J C

Clonal dynamics of haematopoiesis across the human lifespan

人类生命周期中的造血克隆动态

Emily Mitchell, Michael Spencer Chapman #, Nicholas Williams #, Kevin J Dawson #, Nicole Mende, Emily F Calderbank, Hyunchul Jung, Thomas Mitchell, Tim H H Coorens, David H Spencer, Heather Machado, Henry Lee-Six, Megan Davies, Daniel Hayler, Margarete A Fabre, Krishnaa Mahbubani, Federico Abascal, 

Inherited MUTYH mutations cause elevated somatic mutation rates and distinctive mutational signatures in normal human cells

遗传性 MUTYH 突变会导致正常人类细胞中体细胞突变率升高和独特的突变特征

Philip S Robinson, Laura E Thomas, Federico Abascal, Hyunchul Jung, Luke M R Harvey, Hannah D West, Sigurgeir Olafsson, Bernard C H Lee, Tim H H Coorens, Henry Lee-Six, Laura Butlin, Nicola Lander, Rebekah Truscott, Mathijs A Sanders, Stefanie V Lensing, Simon J A Buczacki, Rogier Ten Hoopen, Nichol

Increased somatic mutation burdens in normal human cells due to defective DNA polymerases

由于 DNA 聚合酶缺陷,正常人体细胞中体细胞突变负担增加

Philip S Robinson #, Tim H H Coorens #, Claire Palles #, Emily Mitchell, Federico Abascal, Sigurgeir Olafsson, Bernard C H Lee, Andrew R J Lawson, Henry Lee-Six, Luiza Moore, Mathijs A Sanders, James Hewinson, Lynn Martin, Claudia M A Pinna, Sara Galavotti, Raheleh Rahbari, Peter J Campbell, Iñigo M

Whole-genome sequencing reveals progressive versus stable myeloma precursor conditions as two distinct entities

全基因组测序揭示了进行性骨髓瘤前体症状与稳定性骨髓瘤前体症状是两种不同的实体

Bénedith Oben #, Guy Froyen #, Kylee H Maclachlan, Daniel Leongamornlert, Federico Abascal, Binbin Zheng-Lin, Venkata Yellapantula, Andriy Derkach, Ellen Geerdens, Benjamin T Diamond, Ingrid Arijs, Brigitte Maes, Kimberly Vanhees, Malin Hultcrantz, Elisabet E Manasanch, Dickran Kazandjian, Alexander

Uganda Genome Resource Enables Insights into Population History and Genomic Discovery in Africa

乌干达基因组资源助力洞察非洲人口历史和基因组发现

Deepti Gurdasani, Tommy Carstensen, Segun Fatumo, Guanjie Chen, Chris S Franklin, Javier Prado-Martinez, Heleen Bouman, Federico Abascal, Marc Haber, Ioanna Tachmazidou, Iain Mathieson, Kenneth Ekoru, Marianne K DeGorter, Rebecca N Nsubuga, Chris Finan, Eleanor Wheeler, Li Chen, David N Cooper, Step

Subfunctionalization via adaptive evolution influenced by genomic context: the case of histone chaperones ASF1a and ASF1b

受基因组背景影响的适应性进化亚功能化:以组蛋白伴侣 ASF1a 和 ASF1b 为例

Federico Abascal, Armelle Corpet, Zachary A Gurard-Levin, David Juan, Françoise Ochsenbein, Daniel Rico, Alfonso Valencia, Geneviève Almouzni

The origin of modern frogs (Neobatrachia) was accompanied by acceleration in mitochondrial and nuclear substitution rates

现代蛙类(新蛙类)的起源伴随着线粒体和核基因替换速率的加快。

Iker Irisarri,Diego San Mauro, Federico Abascal, Annemarie Ohler, Miguel Vences, Rafael Zardoya