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

Updated penetrance estimates for recurrent copy number variants - an improved definition and formula

更新了复发性拷贝数变异的渗透率估计值——改进的定义和公式

Goh, Shuxiang; Dudding-Byth, Tracy; Pinese, Mark; Kirk, Edwin P

Regular use of pharmaceutical opioids and subsequent risk of cancer: a prospective cohort study and Mendelian randomization analysis

长期使用处方类阿片药物与癌症风险:一项前瞻性队列研究和孟德尔随机化分析

Sheikh, Mahdi; Domingues, Allison; Alcala, Karine; Langdon, Ryan; Mariosa, Daniela; Feng, Xiaoshuang; Sarich, Peter; Weber, Marianne F; Viallon, Vivian; Fournier, Agnes; Kamangar, Farin; Malekzadeh, Reza; Gillette, Chris; Vitolins, Mara Z; Adams, Meredith C B; Virani, Shama; Ebrahimi, Elmira; Dudding, Tom; Galesloot, Tessel E; Kiemeney, Lambertus A; Rothman, Nathaniel; Koutros, Stella; Zhou, Jifang; Pearson, Sallie-Anne; Parat, Marie-Odile; Brennan, Paul; Johansson, Mattias; Davey Smith, George; Robbins, Hilary A

An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome

针对 HNRNPK 基因的特异性 DNA 甲基化特征能够解释错义变异,并扩展 Au-Kline 综合征的表型谱。

Choufani, Sanaa; McNiven, Vanda; Cytrynbaum, Cheryl; Jangjoo, Maryam; Adam, Margaret P; Bjornsson, Hans T; Harris, Jacqueline; Dyment, David A; Graham, Gail E; Nezarati, Marjan M; Aul, Ritu B; Castiglioni, Claudia; Breckpot, Jeroen; Devriendt, Koen; Stewart, Helen; Banos-Pinero, Benito; Mehta, Sarju; Sandford, Richard; Dunn, Carolyn; Mathevet, Remi; van Maldergem, Lionel; Piard, Juliette; Brischoux-Boucher, Elise; Vitobello, Antonio; Faivre, Laurence; Bournez, Marie; Tran-Mau, Frederic; Maystadt, Isabelle; Fernández-Jaén, Alberto; Alvarez, Sara; García-Prieto, Irene Díez; Alkuraya, Fowzan S; Alsaif, Hessa S; Rahbeeni, Zuhair; El-Akouri, Karen; Al-Mureikhi, Mariam; Spillmann, Rebecca C; Shashi, Vandana; Sanchez-Lara, Pedro A; Graham, John M Jr; Roberts, Amy; Chorin, Odelia; Evrony, Gilad D; Kraatari-Tiri, Minna; Dudding-Byth, Tracy; Richardson, Anamaria; Hunt, David; Hamilton, Laura; Dyack, Sarah; Mendelsohn, Bryce A; Rodríguez, Nicolás; Sánchez-Martínez, Rosario; Tenorio-Castaño, Jair; Nevado, Julián; Lapunzina, Pablo; Tirado, Pilar; Carminho Amaro Rodrigues, Maria-Teresa; Quteineh, Lina; Innes, A Micheil; Kline, Antonie D; Au, P Y Billie; Weksberg, Rosanna

A highly selective C-H bond fluorination unlocks conformational reporting in a complex natural product derivative

高选择性的CH键氟化反应可揭示复杂天然产物衍生物的构象信息

Ruskin, Jonah; Dekeyser, Roxanne; Garrison, Nathaniel; Williams, Phoebe; Kramer-Johansen, Maya; Majumdar, Ananya; Dudding, Travis; Huczyński, Adam; Lectka, Thomas

Proteogenomic and observational evidence implicate ANGPTL4 as a potential therapeutic target for colorectal cancer prevention

蛋白质基因组学和观察性证据表明,ANGPTL4 可能是预防结直肠癌的潜在治疗靶点

Yarmolinsky, James; Lee, Matthew A; Lau, Evelyn; Moratalla-Navarro, Ferran; Vincent, Emma E; Li-Gao, Ruifang; Rensen, Patrick C N; Willems van Dijk, Ko; Tsilidis, Kostas K; Sangphukieo, Apiwat; Ebrahimi, Elmira; Hampe, Jochen; Le Marchand, Loïc; van Duijnhoven, Franzel J B; Visvanathan, Kala; Woods, Michael O; Guevara, Marcela; Sieri, Sabina; Masala, Giovanna; Papier, Keren; Virani, Shama; Dudding, Tom; Dehghan, Abbas; Smith, Alexander G; Wang, Dennis; Moreno, Victor; Gunter, Marc J; Tzoulaki, Ioanna

Reassessing the link between adiposity and head and neck cancer: a Mendelian randomization study

重新评估肥胖与头颈癌之间的联系:一项孟德尔随机化研究

Morales Berstein, Fernanda; Khouja, Jasmine; Gormley, Mark; Ebrahimi, Elmira; Virani, Shama; McKay, James D; Brennan, Paul; Richardson, Tom G; Relton, Caroline L; Davey Smith, George; Borges, M Carolina; Dudding, Tom; Richmond, Rebecca C

Further phenotypical delineation of DLG3-related neurodevelopmental disorders

DLG3相关神经发育障碍的进一步表型描述

Malbos, Marlène; Gautier, Thierry; Shillington, Amelle; Colin, Estelle; Le Guillou, Xavier; Caluseriu, Oana; Isidor, Bertrand; Cogné, Benjamin; Mignot, Cyril; Keren, Boris; Weber, Sacha; Jacquin, Clémence; Dudding, Tracy; Calame, Daniel; Piard, Juliette; Levy, Jonathan; Latypova, Xenia; Verloes, Alain; Niclass, Tanguy; Jacquette, Aurélia; White, Lori; Moizard, Marie-Pierre; Dollfus, Hélène; Moutton, Sébastien; Delanne, Julian; Racine, Caroline; Thomas, Quentin; Denommé-Pichon, Anne-Sophie; Tran Mau-Them, Frédéric; Bruel, Ange-Line; Safraou, Hana; Philippe, Christophe; Duffourd, Yannis; Thauvin-Robinet, Christel; Govin, Jérôme; Vitobello, Antonio; Faivre, Laurence

Genetic heterogeneity and homogeneity among orofacial cleft subtypes: genome-wide association studies in the cleft collective

唇腭裂亚型间的遗传异质性和同质性:唇腭裂群体的全基因组关联研究

Dack, Kyle; Ludwig, Kerstin U; Stergiakouli, Evie; Sandy, Jonathan; Aryee, Sethlina; Davey Smith, George; Davies, Amy; Wren, Yvonne; Sharp, Gemma C; Humphries, Kerry; Mangold, Elisabeth; Goudswaard, Lucy; Ho, Karen; Dudding, Tom; Lewis, Sarah J

Elucidating Fluorine Steering Effects in Diels-Alder Reactions Interfaced with Charge-Enhanced Reactivity

阐明氟在Diels-Alder反应中的作用及其与电荷增强反应性的关系

Hoford, Sabrina; Jan, Julius; Johnston, Jeffrey N; Dudding, Travis

Research priorities for faecal incontinence in adults: A James Lind Alliance priority setting partnership

成人粪便失禁研究重点:詹姆斯·林德联盟优先事项设定伙伴关系

O'Connor, Alexander; Rose, Sam Alexandra; Carrington, Emma V; Clements, Anna; Cornish, Julie A; Drake, Marcus J; Dunford, Louise J; Grainger, Jennie; Hallett, Douglas; Lough, Kate; Marunda, Tatenda; Sesay, Aziza; Vasant, Dipesh H; Willson, Tara; Dudding, Thomas