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

mpMRI-Based Risk Estimation to Optimize Prostate Cancer Patient Selection for Active Surveillance

基于多参数磁共振成像的风险评估以优化前列腺癌患者的主动监测选择

Wallaengen, Veronica; Zacharaki, Evangelia I; Alhusseini, Mohammad; Breto, Adrian L; Kimbel, Isabella M; Soodana-Prakash, Nachiketh; Algohary, Ahmad; Lowry, Noah; Xu, Isaac R L; Freitas, Pedro F; Gaston, Sandra M; Castillo Acosta, Rosa P; Kryvenko, Oleksandr N; Ritch, Chad R; Nahar, Bruno; Gonzalgo, Mark L; Parekh, Dipen J; Pollack, Alan; Punnen, Sanoj; Stoyanova, Radka

A 5' UTR CCG expansion in TBC1D7 causes oculopharyngodistal myopathy

TBC1D7基因中5'UTR CCG扩增导致眼咽远端肌病

Van de Vondel, Liedewei; Curro, Riccardo; Facchini, Stefano; Xu, Isaac R L; De Winter, Jonathan; Quartesan, Ilaria; Monticelli, Alice; Alonso-Jimenez, Alicia; De Ridder, Willem; Bertini, Alessandro; Alves, Gustavo; Pizzuto, Francesca; Ugolini, Hermione; Pellerin, David; De Pooter, Tim; Merve, Ashirwad; Machado, Pedro; Sagath, Lydia; Neveling, Kornelia; Hoischen, Alexander; Hanna, Michael G; Pitceathly, Robert D S; Houlden, Henry; Tucci, Arianna; Bugiardini, Enrico; Brady, Stefen; Roberts, Mark; Danzi, Matt C; Züchner, Stephan; Baets, Jonathan; Cortese, Andrea

A genome-wide approach for the discovery of novel repeat expansion disorders in the Undiagnosed Diseases Network cohort

利用全基因组方法在未确诊疾病网络队列中发现新的重复序列扩增疾病

Fazal, Sarah; Dashnow, Harriet; Dohrn, Maike F; Raposo, Jacquelyn; Hiatt, Laurel; Danzi, Matt C; Xu, Isaac R L; Toro, Camilo; Adams, David R; Usdin, Karen; Hayward, Bruce; Kobren, Shilpa Nadimpalli; Sunyaev, Shamil R; Spillmann, Rebecca C; Shashi, Vandana; Rebelo, Adriana; Bademci, Guney; Tekin, Mustafa; Quinlan, Aaron R; Zuchner, Stephan

Inverse correlation between Lamin A/C and survival in ovarian cancer: implications for predicting responsiveness to taxane-based chemotherapy.

Lamin A/C 与卵巢癌生存率呈负相关:对预测紫杉烷类化疗疗效的意义。

Smith Elizabeth R, Xu Isaac R L, Cai Kathy Qi, George Sophia H L, Schlumbrecht Matthew P, Wang Tian-Li, Shih Ie-Ming, Xu Xiang-Xi

Detailed tandem repeat allele profiling in 1,027 long-read genomes reveals genome-wide patterns of pathogenicity

对 1027 个长读长基因组进行详细的串联重复序列等位基因分析,揭示了全基因组范围内的致病模式

Danzi, Matt C; Xu, Isaac R L; Fazal, Sarah; Dolzhenko, Egor; Pellerin, David; Weisburd, Ben; Reuter, Chloe; Sampson, Jacinda; Folland, Chiara; Wheeler, Matthew; O'Donnell-Luria, Anne; Wuchty, Stefan; Ravenscroft, Gianina; Eberle, Michael A; Zuchner, Stephan

Population-scale Long-read Sequencing in the All of Us Research Program

“我们所有人”研究计划中的群体规模长读长测序

Garimella, Kiran V; Li, Qiuhui; Wertz, Julie; Lee, Samuel K; Cunial, Fabio; Huang, Yongqing; Mostovoy, Yulia; Lorig-Roach, Ryan; English, Adam; Su, Hang; Levy, Shawn; Muzny, Donna M; Berngruber, Chelsea; Danzi, Matt C; Harvey, William T; LaPlante, Emily L; Patterson, Karynne; Rozanski, Allison N; Schwartz, Sophie; Shifaw, Beri; Wang, Yuanyuan; Wong, Isaac; Xu, Isaac R L; Zaheri, Shadi; Zuchner, Stephan; Zheng, Xinchang; Dugan-Perez, Shannon; Izydorczyk, Michal; Mehta, Heer; Gibbs, Richard A; Lichtenstein, Lee; Gupta, Namrata; Lennon, Niall; Gabriel, Stacey; Timp, Winston; Doheny, Kimberly F; Dutka, Tara; Musick, Anjene; Wei, Chia-Lin; Sedlazeck, Fritz J; Schatz, Michael C; Talkowski, Michael E; Eichler, Evan E

A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus.

常见的侧翼变异与 FGF14-SCA27B 重复基因座的稳定性增强有关

Pellerin David, Del Gobbo Giulia F, Couse Madeline, Dolzhenko Egor, Nageshwaran Sathiji K, Cheung Warren A, Xu Isaac R L, Dicaire Marie-Josée, Spurdens Guinevere, Matos-Rodrigues Gabriel, Stevanovski Igor, Scriba Carolin K, Rebelo Adriana, Roth Virginie, Wandzel Marion, Bonnet Céline, Ashton Catherine, Agarwal Aman, Peter Cyril, Hasson Dan, Tsankova Nadejda M, Dewar Ken, Lamont Phillipa J, Laing Nigel G, Renaud Mathilde, Houlden Henry, Synofzik Matthis, Usdin Karen, Nussenzweig Andre, Napierala Marek, Chen Zhao, Jiang Hong, Deveson Ira W, Ravenscroft Gianina, Akbarian Schahram, Eberle Michael A, Boycott Kym M, Pastinen Tomi, Brais Bernard, Zuchner Stephan, Danzi Matt C

Customized antisense oligonucleotide-based therapy for neurofilament-associated Charcot-Marie-Tooth disease.

针对神经丝相关夏科-马里-图斯病的定制化反义寡核苷酸疗法

Medina Jessica, Rebelo Adriana, Danzi Matt C, Jacobs Elizabeth H, Xu Isaac R L, Ahrens Kathleen P, Chen Sitong, Raposo Jacquelyn, Yanick Christopher, Zuchner Stephan, Saporta Mario A

AMH regulates a mosaic population of AMHR2-positive cells in the ovarian surface epithelium.

AMH 调节卵巢表面上皮中 AMHR2 阳性细胞的镶嵌群体

Smith Elizabeth R, Ye Dorcus, Luo Shihua, Xu Isaac R L, Xu Xiang-Xi

A study concept of expeditious clinical enrollment for genetic modifier studies in Charcot-Marie-Tooth neuropathy 1A

一项关于夏科-马里-图斯神经病1A型遗传修饰因子研究快速临床入组的研究概念

Xu, Isaac R L; Danzi, Matt C; Ruiz, Ariel; Raposo, Jacquelyn; De Jesus, Yeisha Arcia; Reilly, Mary M; Cortese, Andrea; Shy, Michael E; Scherer, Steven S; Herrmann, David N; Fridman, Vera; Baets, Jonathan; Saporta, Mario; Seyedsadjadi, Reza; Stojkovic, Tanya; Claeys, Kristl G; Patel, Pooja; Feely, Shawna; Rebelo, Adriana P; Dohrn, Maike F; Züchner, Stephan