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

Improvement of a synthetic live bacterial therapeutic for phenylketonuria with biosensor-enabled enzyme engineering

利用生物传感器酶工程改进苯丙酮尿症合成活菌治疗剂

Kristin J Adolfsen, Isolde Callihan, Catherine E Monahan, Per Jr Greisen, James Spoonamore, Munira Momin, Lauren E Fitch, Mary Joan Castillo, Lindong Weng, Lauren Renaud, Carl J Weile, Jay H Konieczka, Teodelinda Mirabella, Andres Abin-Fuentes, Adam G Lawrence, Vincent M Isabella

Adolescents with congenital heart defects: a patient and parental perspective of genetic information and genetic risk

患有先天性心脏病的青少年:患者和家长对遗传信息和遗传风险的看法

Crawford, Christopher A; Vujakovich, Courtney E; Elmore, Lindsey; Fleming, Emily; Landis, Benjamin J; Spoonamore, Katie G; Ware, Stephanie M

Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel

ACMG/AMP变异分类框架在MYH7相关遗传性心肌病中的适应性和验证:ClinGen遗传性心肌病专家组的建议

Kelly, Melissa A; Caleshu, Colleen; Morales, Ana; Buchan, Jillian; Wolf, Zena; Harrison, Steven M; Cook, Stuart; Dillon, Mitchell W; Garcia, John; Haverfield, Eden; Jongbloed, Jan D H; Macaya, Daniela; Manrai, Arjun; Orland, Kate; Richard, Gabriele; Spoonamore, Katherine; Thomas, Matthew; Thomson, Kate; Vincent, Lisa M; Walsh, Roddy; Watkins, Hugh; Whiffin, Nicola; Ingles, Jodie; van Tintelen, J Peter; Semsarian, Christopher; Ware, James S; Hershberger, Ray; Funke, Birgit

Phosphorylation of the RSRSP stretch is critical for splicing regulation by RNA-Binding Motif Protein 20 (RBM20) through nuclear localization

RSRSP序列的磷酸化对于RNA结合基序蛋白20(RBM20)通过核定位调控剪接至关重要。

Murayama, Rie; Kimura-Asami, Mariko; Togo-Ohno, Marina; Yamasaki-Kato, Yumiko; Naruse, Taeko K; Yamamoto, Takeshi; Hayashi, Takeharu; Ai, Tomohiko; Spoonamore, Katherine G; Kovacs, Richard J; Vatta, Matteo; Iizuka, Mai; Saito, Masumi; Wani, Shotaro; Hiraoka, Yuichi; Kimura, Akinori; Kuroyanagi, Hidehito

Validation and Utilization of a Clinical Next-Generation Sequencing Panel for Selected Cardiovascular Disorders

针对特定心血管疾病的临床二代测序检测板的验证和应用

Celestino-Soper, Patrícia B S; Gao, Hongyu; Lynnes, Ty C; Lin, Hai; Liu, Yunlong; Spoonamore, Katherine G; Chen, Peng-Sheng; Vatta, Matteo

Targeting BRCA1- and BRCA2-deficient cells with RAD52 small molecule inhibitors

使用 RAD52 小分子抑制剂靶向 BRCA1 和 BRCA2 缺陷细胞

Fei Huang, Nadish Goyal, Katherine Sullivan, Kritika Hanamshet, Mikir Patel, Olga M Mazina, Charles X Wang, W Frank An, James Spoonamore, Shailesh Metkar, Kyle A Emmitte, Simon Cocklin, Tomasz Skorski, Alexander V Mazin

A Case for Inclusion of Genetic Counselors in Cardiac Care

有必要将遗传咨询师纳入心脏护理

Arscott, Patricia; Caleshu, Colleen; Kotzer, Katrina; Kreykes, Sarah; Kruisselbrink, Teresa; Orland, Kate; Rigelsky, Christina; Smith, Emily; Spoonamore, Katherine; Larsen Haidle, Joy; Marvin, Monica; Ackerman, Michael J; Hadi, Azam; Mani, Arya; Ommen, Steven; Cherny, Sara

Dysfunction in the βII spectrin-dependent cytoskeleton underlies human arrhythmia

βII 血影蛋白依赖性细胞骨架功能障碍是人类心律失常的根本原因

Smith, Sakima A; Sturm, Amy C; Curran, Jerry; Kline, Crystal F; Little, Sean C; Bonilla, Ingrid M; Long, Victor P; Makara, Michael; Polina, Iuliia; Hughes, Langston D; Webb, Tyler R; Wei, Zhiyi; Wright, Patrick; Voigt, Niels; Bhakta, Deepak; Spoonamore, Katherine G; Zhang, Chuansheng; Weiss, Raul; Binkley, Philip F; Janssen, Paul M; Kilic, Ahmet; Higgins, Robert S; Sun, Mingzhai; Ma, Jianjie; Dobrev, Dobromir; Zhang, Mingjie; Carnes, Cynthia A; Vatta, Matteo; Rasband, Matthew N; Hund, Thomas J; Mohler, Peter J

A small molecule inhibitor of fungal histone acetyltransferase Rtt109

真菌组蛋白乙酰转移酶Rtt109的小分子抑制剂

Lopes da Rosa, Jessica; Bajaj, Vineeta; Spoonamore, James; Kaufman, Paul D

A Potent and Selective Quinoxalinone-Based STK33 Inhibitor Does Not Show Synthetic Lethality in KRAS-Dependent Cells

强效且选择性的喹喔啉酮类 STK33 抑制剂在 KRAS 依赖性细胞中未表现出合成致死性

Michel Weïwer, James Spoonamore, Jingqiang Wei, Boris Guichard, Nathan T Ross, Kristina Masson, Whitney Silkworth, Sivaraman Dandapani, Michelle Palmer, Christina A Scherer, Andrew M Stern, Stuart L Schreiber, Benito Munoz