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

Comprehensive detection of germline variants by MSK-IMPACT, a clinical diagnostic platform for solid tumor molecular oncology and concurrent cancer predisposition testing

MSK-IMPACT 是一种用于实体瘤分子肿瘤学和同步癌症易感性检测的临床诊断平台，可全面检测种系变异。

期刊:BMC Medical Genomics
影响因子:2
doi:10.1186/s12920-017-0271-4
Cheng, Donavan T; Prasad, Meera; Chekaluk, Yvonne; Benayed, Ryma; Sadowska, Justyna; Zehir, Ahmet; Syed, Aijazuddin; Wang, Yan Elsa; Somar, Joshua; Li, Yirong; Yelskaya, Zarina; Wong, Donna; Robson, Mark E; Offit, Kenneth; Berger, Michael F; Nafa, Khedoudja; Ladanyi, Marc; Zhang, Liying
肿瘤
肿瘤免疫
多发性硬化症
发表日期：2017
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A shower of second hit events as the cause of multifocal renal cell carcinoma in tuberous sclerosis complex

结节性硬化症中多灶性肾细胞癌的病因是一系列二次打击事件。

期刊:Human Molecular Genetics
影响因子:3.2
doi:10.1093/hmg/ddu597
Tyburczy, Magdalena E; Jozwiak, Sergiusz; Malinowska, Izabela A; Chekaluk, Yvonne; Pugh, Trevor J; Wu, Chin-Lee; Nussbaum, Robert L; Seepo, Sara; Dzik, Tomasz; Kotulska, Katarzyna; Kwiatkowski, David J
肿瘤
肾癌
肿瘤免疫
细胞生物学
发表日期：2015
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BAP1 missense mutation c.2054 A>T (p.E685V) completely disrupts normal splicing through creation of a novel 5' splice site in a human mesothelioma cell line

BAP1错义突变c.2054 A>T (p.E685V)通过在人间皮瘤细胞系中产生一个新的5'剪接位点，完全破坏了正常的剪接过程。

期刊:PLoS One
影响因子:2.6
doi:10.1371/journal.pone.0119224
Morrison, Arianne; Chekaluk, Yvonne; Bacares, Ruben; Ladanyi, Marc; Zhang, Liying
细胞生物学
BAP1
发表日期：2015
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Targeted deletion of Tsc1 causes fatal cardiomyocyte hyperplasia independently of afterload

Tsc1基因的靶向缺失会导致致命的心肌细胞增生，且与后负荷无关。

期刊:Cardiovascular Pathology
影响因子:1.9
doi:10.1016/j.carpath.2014.10.005
Kayyali, Usamah S; Larsen, Christopher G; Bashiruddin, Sarah; Lewandowski, Sara L; Trivedi, Chinmay M; Warburton, Rod R; Parkhitko, Andrey A; Morrison, Tasha A; Henske, Elizabeth P; Chekaluk, Yvonne; Kwiatkowski, David J; Finlay, Geraldine A
细胞生物学
发表日期：2015
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Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional Testing

TSC1/TSC2 中的嵌合突变和内含子突变解释了大多数常规检测未发现突变的 TSC 患者

期刊:PLoS Genetics
影响因子:
doi:10.1371/journal.pgen.1005637
Magdalena E Tyburczy, Kira A Dies, Jennifer Glass, Susana Camposano, Yvonne Chekaluk, Aaron R Thorner, Ling Lin, Darcy Krueger, David N Franz, Elizabeth A Thiele, Mustafa Sahin, David J Kwiatkowski
信号转导
发表日期：2015
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Sun exposure causes somatic second-hit mutations and angiofibroma development in tuberous sclerosis complex

日光照射导致结节性硬化症中的体细胞二次突变和血管纤维瘤发展

期刊:Human Molecular Genetics
影响因子:3.1
doi:10.1093/hmg/ddt597
Magdalena E Tyburczy, Ji-An Wang, Shaowei Li, Rajesh Thangapazham, Yvonne Chekaluk, Joel Moss, David J Kwiatkowski, Thomas N Darling
免疫
细胞生物学
其它细胞
发表日期：2014
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Exonic mutations of TSC2/TSC1 are common but not seen in all sporadic pulmonary lymphangioleiomyomatosis

TSC2/TSC1基因外显子突变很常见，但并非所有散发性肺淋巴管肌瘤病都存在这种突变。

期刊:American Journal of Respiratory and Critical Care Medicine
影响因子:19.4
doi:10.1164/ajrccm.187.6.663
Badri, Kameswara Rao; Gao, Ling; Hyjek, Elizabeth; Schuger, Noa; Schuger, Lucia; Qin, Wei; Chekaluk, Yvonne; Kwiatkowski, David J; Zhe, Xiaoning
发表日期：2013
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TSC1 involvement in bladder cancer: diverse effects and therapeutic implications

TSC1 参与膀胱癌：多种影响和治疗意义

期刊:Journal of Pathology
影响因子:5.6
doi:10.1002/path.4176
Yanan Guo, Yvonne Chekaluk, Jianming Zhang, Jinyan Du, Nathanael S Gray, Chin-Lee Wu, David J Kwiatkowski
肿瘤
膀胱癌
发表日期：2013
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Regulable neural progenitor-specific Tsc1 loss yields giant cells with organellar dysfunction in a model of tuberous sclerosis complex

可调节神经祖细胞特异性 Tsc1 缺失在结节性硬化症模型中产生具有细胞器功能障碍的巨细胞

期刊:Proceedings of the National Academy of Sciences of the United States of America
影响因子:
doi:10.1073/pnas.1106454108
June Goto, Delia M Talos, Peter Klein, Wei Qin, Yvonne I Chekaluk, Stefanie Anderl, Izabela A Malinowska, Alessia Di Nardo, Roderick T Bronson, Jennifer A Chan, Harry V Vinters, Steven G Kernie, Frances E Jensen, Mustafa Sahin, David J Kwiatkowski
免疫
神经
多发性硬化症
其它细胞
WB
发表日期：2011
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