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

Genome Sequencing of Undiagnosed European Patients Suspected of Hereditary Cancer: Diagnostic Yield and Identification of Candidate Causative Variants

对疑似患有遗传性癌症的未确诊欧洲患者进行基因组测序:诊断率和候选致病变异的鉴定

Martins, Nelson; Terradas, Mariona; Garcia-Pelaez, José; Sommer, Anna K; Demidov, German; Matalonga, Leslie; Ramos-Muntada, Mireia; Te Paske, Iris B A W; Spier, Isabel; Mensenkamp, Arjen; Schuurs-Hoeijmakers, Janneke; Gullo, Irene; São José, Celina; Pedro, Ana Maria; Gouveia Silva, Raquel; Sousa, Ana Berta; Amoroso Canão, Pedro; Fernandes, Susana; Garrido, Luzia; Dupont, Juliette; Maia, Sofia; Sousa, Gabriela; Irmejs, Arvids; Barili, Valeria; Blatnik, Ana; Rofes, Paula; Brunet, Joan; Capellá, Gabriel; Laurie, Steven; Lázaro, Conxi; Hoogerbrugge, Nicoline; de Voer, Richarda M; Aretz, Stefan; Oliveira, Carla; Valle, Laura

Revealing the Intricate Structure of Surface Phases of Methanol on In(2)O(3)(111)

揭示甲醇在In(2)O(3)(111)表面相的复杂结构

Ziegler, Andreas; Wagner, Chiara I; Chen, Hao; Blatnik, Matthias A; Wolfram, Alexander; Brandmeier, Anne; Jakub, Zdeněk; Riva, Michele; Pavelec, Jiri; Schmid, Michael; Diebold, Ulrike; Meyer, Bernd; Wagner, Margareta

Correction: Cosegregation analysis following an excellent response to olaparib in a pancreatic cancer patient carrier of BRCA2:c.7892 T > C variant enables its reclassification from VUS to pathogenic

更正:在一名携带 BRCA2:c.7892 T > C 变异的胰腺癌患者中,对奥拉帕尼治疗反应良好后进行的共分离分析,使得该变异能够从意义未明的变异 (VUS) 重新分类为致病性变异 (pathic mutation)。

Strojnik, Ksenija; Blatnik, Ana; Krajc, Mateja; Novaković, Aleksander; Ignjatović, Marija; Ocvirk, Janja; Stegel, Vida; Škerl, Petra; Klančar, Gašper; Novaković, Srdjan; Šetrajčič Dragoš, Vita

Cosegregation analysis following an excellent response to olaparib in a pancreatic cancer patient carrier of BRCA2:c.7892 T > C variant enables its reclassification from VUS to pathogenic

在一名携带 BRCA2:c.7892 T > C 变异的胰腺癌患者中,奥拉帕尼治疗效果显著,对其进行共分离分析后,可将该变异从意义未明的变异 (VUS) 重新分类为致病性变异 (principal variant)。

Strojnik, Ksenija; Blatnik, Ana; Krajc, Mateja; Novaković, Aleksander; Ignjatović, Marija; Ocvirk, Janja; Stegel, Vida; Škerl, Petra; Klančar, Gašper; Novaković, Srdjan; Šetrajčič Dragoš, Vita

Sm-site containing mRNAs can accept Sm-rings and are downregulated in Spinal Muscular Atrophy.

含有 Sm 位点的 mRNA 可以接受 Sm 环,并且在脊髓性肌萎缩症中表达下调

Blatnik Anton J 3rd, Sanjeev Manu, Slivka Jacob, Pastore Benjamin, Embree Caleb M, Tang Wen, Singh Guramrit, Burghes Arthur H M

Voyage to the Frozen Continent: A Comprehensive GNSS Dataset from a Ship's Expedition to Antarctica

前往冰封大陆的航程:来自南极探险船的综合GNSS数据集

Bertalanič, Blaž; Dimc, Franc; Bažec, Matej; Blatnik, Aljaž

Molecular arrangements in the first monolayer of Cu-phthalocyanine on In(2)O(3)(111)

Cu-酞菁在In(2)O(3)(111)上的第一单层中的分子排列

Blatnik, Matthias A; Calcinelli, Fabio; Jeindl, Andreas; Eder, Moritz; Schmid, Michael; Čechal, Jan; Diebold, Ulrike; Jacobson, Peter; Hofmann, Oliver T; Wagner, Margareta

Real-World Evaluation of Microsatellite Instability Detection via Targeted NGS Panels in Routine Molecular Diagnostics

在常规分子诊断中,通过靶向NGS panel检测微卫星不稳定性进行实际评估

Škerl, Petra; Vogrič, Vesna; Stegel, Vida; Šetrajčič Dragoš, Vita; Blatnik, Olga; Klančar, Gašper; Novaković, Srdjan

A cardiac transcriptional enhancer is repurposed during regeneration to activate an anti-proliferative program

心脏转录增强子在再生过程中被重新利用来激活抗增殖程序

Anupama Rao, Andrew Russell, Jose Segura-Bermudez, Charles Franz, Rejenae Dockery, Anton Blatnik, Jacob Panten, Mateo Zevallos, Carson McNulty, Maciej Pietrzak, Joseph Aaron Goldman

Secondary findings in hereditary cancer genes after germline genetic testing - systematic review of literature

生殖系基因检测后遗传性癌症基因的次要发现——文献系统综述

Avsec, Eva; Blatnik, Ana; Krajc, Mateja