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

The impact of ancestral, genetic, and environmental influences on germline de novo mutation rates and spectra

祖先、遗传和环境因素对种系新生突变率和突变谱的影响

Garcia-Salinas, O Isaac; Hwang, Seongwon; Huang, Qin Qin; Sanghvi, Rashesh; Malawsky, Daniel S; Kaplanis, Joanna; Neville, Matthew D C; Day, Felix R; Rahbari, Raheleh; Scally, Aylwyn; Martin, Hilary C

Assessment of the variant prioritization strategy for genomic newborn screening in the Generation Study

Generation 研究中基因组新生儿筛查变异优先排序策略的评估

Kaplanis, Joanna; Deen, Dasha; Sivakumar, Prasanth; de Almeida Gomes, Mafalda; Puzriakova, Arina; Leong, Ivone; Savage, Kevin; Aldam, Gabriel; Skelton, James; Quinn, Paul; Parrish, Andrew; Baple, Emma; To, Meekai; Stone, Katrina; Bick, David; Pichini, Amanda; Tuff-Lacey, Alice; Scott, Richard; Thomas, Ellen; Kasperaviciute, Dalia

Platelets regulate neural and oligodendroglial progenitors when infiltrating the brain parenchyma

血小板浸润脑实质时调节神经元和少突胶质细胞祖细胞。

Dimitriou, Christina; Anesti, Maria; Kaplanis, Stefanos; Mourtzi, Theodora; Dimopoulou, Aggeliki; Dimitrakopoulos, Dimitrios; Katsaitis, Filippos; Nousia, Maria; Mastori, Konstantina; Karassavidou, Kyriaki; Aleiferi, Efthimia; Lagogiannis, Dimitrios; Tahir, Esra; Philp, Amber R; Kouvela, Adamantia; Stathopoulos, Constantinos; Karagogeos, Domna; Franklin, Robin J M; Ghevaert, Cedric; Rivera, Francisco J; Kazanis, Ilias

Mucocutaneous Adverse Events in Patients With Cancer Treated with the Highly Selective RET Kinase Inhibitor Selpercatinib (LOXO-292)

使用高选择性RET激酶抑制剂Selpercatinib(LOXO-292)治疗癌症患者的黏膜皮肤不良事件

Reingold, Rachel E; Parisi, Rose; Harada, Guilherme; Moy, Andrea P; Dranitsaris, George; Francis, Jasmine H; Canestraro, Julia; Lester, Julia A; Kaplanis, Lauren A; Liu, Dazhi; Lacouture, Mario E; Drilon, Alexander

Endoscopic Vacuum Therapy for Anastomotic Leakage After Distal Gastrectomy in a Renal Transplant Patient: A Case Study

肾移植患者远端胃切除术后吻合口漏的内镜真空疗法:病例报告

Prentza, Sofia Konstantina; Kehagias, Dimitrios; Kaplanis, Charalampos; Kitsou, Konstantina Soultana; Thomopoulos, Konstantinos C; Karydis, Nikolaos; Tsachiridi, Maria

Mitigation of TDP-43 toxic phenotype by an RGNEF fragment in amyotrophic lateral sclerosis models

RGNEF片段在肌萎缩侧索硬化症模型中减轻TDP-43毒性表型

Droppelmann, Cristian A; Campos-Melo, Danae; Noches, Veronica; McLellan, Crystal; Szabla, Robert; Lyons, Taylor A; Amzil, Hind; Withers, Benjamin; Kaplanis, Brianna; Sonkar, Kirti S; Simon, Anne; Buratti, Emanuele; Junop, Murray; Kramer, Jamie M; Strong, Michael J

Phase Separation of SARS-CoV-2 Nucleocapsid Protein with TDP-43 Is Dependent on C-Terminus Domains

SARS-CoV-2核衣壳蛋白与TDP-43的相分离依赖于C端结构域

Strong, Michael J; McLellan, Crystal; Kaplanis, Brianna; Droppelmann, Cristian A; Junop, Murray

The impact of the COVID-19 pandemic on the number of patients presenting with appendicitis to the emergency department

新冠肺炎疫情对因阑尾炎到急诊科就诊患者数量的影响

Akrida, Ioanna; Verras, Georgios-Ioannis; Bouchagier, Konstantinos; Kehagias, Dimitrios; Kaplanis, Charalampos; Tasios, Konstantinos; Antzoulas, Andreas; Samaras, Angelos; Benetatos, Nikolaos; Maroulis, Ioannis; Mulita, Francesk

Detection and characterization of copy-number variants from exome sequencing in the DDD study

在 DDD 研究中,通过外显子组测序检测和表征拷贝数变异

Danecek, Petr; Gardner, Eugene J; Fitzgerald, Tomas W; Gallone, Giuseppe; Kaplanis, Joanna; Eberhardt, Ruth Y; Wright, Caroline F; Firth, Helen V; Hurles, Matthew E

Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland

英国和爱尔兰罕见儿科疾病的基因组诊断

Wright, Caroline F; Campbell, Patrick; Eberhardt, Ruth Y; Aitken, Stuart; Perrett, Daniel; Brent, Simon; Danecek, Petr; Gardner, Eugene J; Chundru, V Kartik; Lindsay, Sarah J; Andrews, Katrina; Hampstead, Juliet; Kaplanis, Joanna; Samocha, Kaitlin E; Middleton, Anna; Foreman, Julia; Hobson, Rachel J; Parker, Michael J; Martin, Hilary C; FitzPatrick, David R; Hurles, Matthew E; Firth, Helen V