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

Genomic analysis defines clonal relationships of ductal carcinoma in situ and recurrent invasive breast cancer

基因组分析确定了导管原位癌和复发性浸润性乳腺癌的克隆关系

Lips, Esther H; Kumar, Tapsi; Megalios, Anargyros; Visser, Lindy L; Sheinman, Michael; Fortunato, Angelo; Shah, Vandna; Hoogstraat, Marlous; Sei, Emi; Mallo, Diego; Roman-Escorza, Maria; Ahmed, Ahmed A; Xu, Mingchu; van den Belt-Dusebout, Alexandra W; Brugman, Wim; Casasent, Anna K; Clements, Karen; Davies, Helen R; Fu, Liping; Grigoriadis, Anita; Hardman, Timothy M; King, Lorraine M; Krete, Marielle; Kristel, Petra; de Maaker, Michiel; Maley, Carlo C; Marks, Jeffrey R; Menegaz, Brian A; Mulder, Lennart; Nieboer, Frank; Nowinski, Salpie; Pinder, Sarah; Quist, Jelmar; Salinas-Souza, Carolina; Schaapveld, Michael; Schmidt, Marjanka K; Shaaban, Abeer M; Shami, Rana; Sridharan, Mathini; Zhang, John; Stobart, Hilary; Collyar, Deborah; Nik-Zainal, Serena; Wessels, Lodewyk F A; Hwang, E Shelley; Navin, Nicholas E; Futreal, P Andrew; Thompson, Alastair M; Wesseling, Jelle; Sawyer, Elinor J

Spatially resolved transcriptomics of high-grade serous ovarian carcinoma

高级别浆液性卵巢癌的空间分辨转录组学

Stur, Elaine; Corvigno, Sara; Xu, Mingchu; Chen, Ken; Tan, Yukun; Lee, Sanghoon; Liu, Jinsong; Ricco, Emily; Kraushaar, Daniel; Castro, Patricia; Zhang, Jianhua; Sood, Anil K

Atypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytoma

非典型亚历山大病伴肌张力障碍、视网膜病变和类似星形细胞瘤的脑部肿块

Machol, Keren; Jankovic, Joseph; Vijayakumar, Dhanya; Burrage, Lindsay C; Jain, Mahim; Lewis, Richard A; Fuller, Gregory N; Xu, Mingchu; Penas-Prado, Marta; Gule-Monroe, Maria K; Rosenfeld, Jill A; Chen, Rui; Eng, Christine M; Yang, Yaping; Lee, Brendan H; Moretti, Paolo M; Dhar, Shweta U

Investigating the disease association of USH2A p.C759F variant by leveraging large retinitis pigmentosa cohort data

利用大型视网膜色素变性队列数据研究USH2A p.C759F变异与疾病的关联

DuPont, Mariana; Jones, Evan M; Xu, Mingchu; Chen, Rui

A Novel Dominant Mutation in SAG, the Arrestin-1 Gene, Is a Common Cause of Retinitis Pigmentosa in Hispanic Families in the Southwestern United States

SAG(Arrestin-1基因)中的一种新型显性突变是美国西南部西班牙裔家庭视网膜色素变性的常见病因。

Sullivan, Lori S; Bowne, Sara J; Koboldt, Daniel C; Cadena, Elizabeth L; Heckenlively, John R; Branham, Kari E; Wheaton, Dianna H; Jones, Kaylie D; Ruiz, Richard S; Pennesi, Mark E; Yang, Paul; Davis-Boozer, David; Northrup, Hope; Gurevich, Vsevold V; Chen, Rui; Xu, Mingchu; Li, Yumei; Birch, David G; Daiger, Stephen P

The phenotypic variability of HK1-associated retinal dystrophy

HK1相关视网膜营养不良的表型变异性

Yuan, Zhisheng; Li, Baiyu; Xu, Mingchu; Chang, Emmanuel Y; Li, Huajin; Yang, Lizhu; Wu, Shijing; Soens, Zachry T; Li, Yumei; Wong, Lee-Jun C; Lewis, Richard A; Sui, Ruifang; Chen, Rui

CEP78 is mutated in a distinct type of Usher syndrome

CEP78基因突变与一种特殊的Usher综合征有关。

Fu, Qing; Xu, Mingchu; Chen, Xue; Sheng, Xunlun; Yuan, Zhisheng; Liu, Yani; Li, Huajin; Sun, Zixi; Li, Huiping; Yang, Lizhu; Wang, Keqing; Zhang, Fangxia; Li, Yumei; Zhao, Chen; Sui, Ruifang; Chen, Rui

Leveraging splice-affecting variant predictors and a minigene validation system to identify Mendelian disease-causing variants among exon-captured variants of uncertain significance

利用剪接影响变异预测器和微基因验证系统,从外显子捕获的、意义未明的变异中识别孟德尔遗传病致病变异。

Soens, Zachry T; Branch, Justin; Wu, Shijing; Yuan, Zhisheng; Li, Yumei; Li, Hui; Wang, Keqing; Xu, Mingchu; Rajan, Lavan; Motta, Fabiana L; Simões, Renata T; Lopez-Solache, Irma; Ajlan, Radwan; Birch, David G; Zhao, Peiquan; Porto, Fernanda B; Sallum, Juliana; Koenekoop, Robert K; Sui, Ruifang; Chen, Rui

SeqCNV: a novel method for identification of copy number variations in targeted next-generation sequencing data

SeqCNV:一种用于识别靶向二代测序数据中拷贝数变异的新方法

Chen, Yong; Zhao, Li; Wang, Yi; Cao, Ming; Gelowani, Violet; Xu, Mingchu; Agrawal, Smriti A; Li, Yumei; Daiger, Stephen P; Gibbs, Richard; Wang, Fei; Chen, Rui

Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination

由 RCBTB1 基因双等位基因突变引起的孤立性和综合征性视网膜营养不良,RCBTB1 基因与泛素化有关

Coppieters, Frauke; Ascari, Giulia; Dannhausen, Katharina; Nikopoulos, Konstantinos; Peelman, Frank; Karlstetter, Marcus; Xu, Mingchu; Brachet, Cécile; Meunier, Isabelle; Tsilimbaris, Miltiadis K; Tsika, Chrysanthi; Blazaki, Styliani V; Vergult, Sarah; Farinelli, Pietro; Van Laethem, Thalia; Bauwens, Miriam; De Bruyne, Marieke; Chen, Rui; Langmann, Thomas; Sui, Ruifang; Meire, Françoise; Rivolta, Carlo; Hamel, Christian P; Leroy, Bart P; De Baere, Elfride