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

Metabolic Fingerprinting Links Oncogenic PIK3CA with Enhanced Arachidonic Acid-Derived Eicosanoids

代谢指纹图谱将致癌PIK3CA与增强的花生四烯酸衍生的二十碳酸类物质联系起来

Nikos Koundouros ,Evdoxia Karali ,Aurelien Tripp ,Adamo Valle ,Paolo Inglese ,Nicholas J S Perry ,David J Magee ,Sara Anjomani Virmouni ,George A Elder ,Adam L Tyson ,Maria Luisa Dória ,Antoinette van Weverwijk ,Renata F Soares ,Clare M Isacke ,Jeremy K Nicholson ,Robert C Glen ,Zoltan Takats ,George Poulogiannis

Next-generation sequencing for the diagnosis of MYH9-RD: Predicting pathogenic variants

新一代测序技术在MYH9-RD诊断中的应用:预测致病变异

Bury, Loredana; Megy, Karyn; Stephens, Jonathan C; Grassi, Luigi; Greene, Daniel; Gleadall, Nick; Althaus, Karina; Allsup, David; Bariana, Tadbir K; Bonduel, Mariana; Butta, Nora V; Collins, Peter; Curry, Nicola; Deevi, Sri V V; Downes, Kate; Duarte, Daniel; Elliott, Kim; Falcinelli, Emanuela; Furie, Bruce; Keeling, David; Lambert, Michele P; Linger, Rachel; Mangles, Sarah; Mapeta, Rutendo; Millar, Carolyn M; Penkett, Christopher; Perry, David J; Stirrups, Kathleen E; Turro, Ernest; Westbury, Sarah K; Wu, John; BioResource, Nihr; Gomez, Keith; Freson, Kathleen; Ouwehand, Willem H; Gresele, Paolo; Simeoni, Ilenia

Rare case of hepatocellular carcinoma metastasising to the pituitary and cavernous sinus causing panhypopituitarism and bilateral ophthalmoplegia

罕见的肝细胞癌转移至垂体和海绵窦,导致全垂体功能减退和双侧眼肌麻痹

Ambalavanan, Jayachidambaram; Peravali, Monica; Perry, David J

Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia

GP1BB基因的罕见变异是常染色体显性遗传性巨血小板减少症的病因。

Sivapalaratnam, Suthesh; Westbury, Sarah K; Stephens, Jonathan C; Greene, Daniel; Downes, Kate; Kelly, Anne M; Lentaigne, Claire; Astle, William J; Huizinga, Eric G; Nurden, Paquita; Papadia, Sofia; Peerlinck, Kathelijne; Penkett, Christopher J; Perry, David J; Roughley, Catherine; Simeoni, Ilenia; Stirrups, Kathleen; Hart, Daniel P; Tait, R Campbell; Mumford, Andrew D; Laffan, Michael A; Freson, Kathleen; Ouwehand, Willem H; Kunishima, Shinji; Turro, Ernest

A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders

一种用于诊断遗传性出血、血栓和血小板疾病的高通量测序检测方法

Simeoni, Ilenia; Stephens, Jonathan C; Hu, Fengyuan; Deevi, Sri V V; Megy, Karyn; Bariana, Tadbir K; Lentaigne, Claire; Schulman, Sol; Sivapalaratnam, Suthesh; Vries, Minka J A; Westbury, Sarah K; Greene, Daniel; Papadia, Sofia; Alessi, Marie-Christine; Attwood, Antony P; Ballmaier, Matthias; Baynam, Gareth; Bermejo, Emilse; Bertoli, Marta; Bray, Paul F; Bury, Loredana; Cattaneo, Marco; Collins, Peter; Daugherty, Louise C; Favier, Rémi; French, Deborah L; Furie, Bruce; Gattens, Michael; Germeshausen, Manuela; Ghevaert, Cedric; Goodeve, Anne C; Guerrero, Jose A; Hampshire, Daniel J; Hart, Daniel P; Heemskerk, Johan W M; Henskens, Yvonne M C; Hill, Marian; Hogg, Nancy; Jolley, Jennifer D; Kahr, Walter H; Kelly, Anne M; Kerr, Ron; Kostadima, Myrto; Kunishima, Shinji; Lambert, Michele P; Liesner, Ri; López, José A; Mapeta, Rutendo P; Mathias, Mary; Millar, Carolyn M; Nathwani, Amit; Neerman-Arbez, Marguerite; Nurden, Alan T; Nurden, Paquita; Othman, Maha; Peerlinck, Kathelijne; Perry, David J; Poudel, Pawan; Reitsma, Pieter; Rondina, Matthew T; Smethurst, Peter A; Stevenson, William; Szkotak, Artur; Tuna, Salih; van Geet, Christel; Whitehorn, Deborah; Wilcox, David A; Zhang, Bin; Revel-Vilk, Shoshana; Gresele, Paolo; Bellissimo, Daniel B; Penkett, Christopher J; Laffan, Michael A; Mumford, Andrew D; Rendon, Augusto; Gomez, Keith; Freson, Kathleen; Ouwehand, Willem H; Turro, Ernest

Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders

利用人类表型本体注释和聚类分析,揭示707例不明原因出血和血小板疾病患者的遗传缺陷。

Westbury, Sarah K; Turro, Ernest; Greene, Daniel; Lentaigne, Claire; Kelly, Anne M; Bariana, Tadbir K; Simeoni, Ilenia; Pillois, Xavier; Attwood, Antony; Austin, Steve; Jansen, Sjoert Bg; Bakchoul, Tamam; Crisp-Hihn, Abi; Erber, Wendy N; Favier, Rémi; Foad, Nicola; Gattens, Michael; Jolley, Jennifer D; Liesner, Ri; Meacham, Stuart; Millar, Carolyn M; Nurden, Alan T; Peerlinck, Kathelijne; Perry, David J; Poudel, Pawan; Schulman, Sol; Schulze, Harald; Stephens, Jonathan C; Furie, Bruce; Robinson, Peter N; van Geet, Chris; Rendon, Augusto; Gomez, Keith; Laffan, Michael A; Lambert, Michele P; Nurden, Paquita; Ouwehand, Willem H; Richardson, Sylvia; Mumford, Andrew D; Freson, Kathleen

Plasma IGF-1 and IGFBP-3 may be imprecise surrogates for breast concentrations: an analysis of healthy women

血浆IGF-1和IGFBP-3可能无法准确反映乳腺中的浓度:一项针对健康女性的分析

Llanos, Adana A; Brasky, Theodore M; Dumitrescu, Ramona G; Marian, Catalin; Makambi, Kepher H; Kallakury, Bhaskar V S; Spear, Scott L; Perry, David J; Convit, Rafael J; Platek, Mary E; Adams-Campbell, Lucile L; Freudenheim, Jo L; Shields, Peter G

Adipokines in plasma and breast tissues: associations with breast cancer risk factors.

血浆和乳腺组织中的脂肪因子:与乳腺癌风险因素的关联

Llanos Adana A, Dumitrescu Ramona G, Marian Catalin, Makambi Kepher H, Spear Scott L, Kallakury Bhaskar V S, Perry David J, Convit Rafael J, Platek Mary E, Millen Amy E, Adams-Campbell Lucile L, Freudenheim Jo L, Shields Peter G

Phase 2 trial of linifanib (ABT-869) in patients with advanced renal cell cancer after sunitinib failure

利尼凡尼(ABT-869)治疗舒尼替尼治疗失败的晚期肾细胞癌患者的II期临床试验

Tannir, Nizar M; Wong, Yu-Ning; Kollmannsberger, Christian K; Ernstoff, Marc S; Perry, David J; Appleman, Leonard J; Posadas, Edwin M; Cho, Daniel; Choueiri, Toni K; Coates, Andrew; Gupta, Neeraj; Pradhan, Rajendra; Qian, Jiang; Chen, Jihong; Scappaticci, Frank A; Ricker, Justin L; Carlson, Dawn M; Michaelson, M Dror