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

Clustered de novo start-loss variants in GLUL result in a developmental and epileptic encephalopathy via stabilization of glutamine synthetase

GLUL 中聚集的从头启动丢失变异通过稳定谷氨酰胺合成酶导致发育性和癫痫性脑病

期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2024.03.005
Amy G Jones, Matilde Aquilino, Rory J Tinker, Laura Duncan, Zandra Jenkins, Gemma L Carvill, Stephanie J DeWard, Dorothy K Grange, M J Hajianpour, Benjamin J Halliday, Muriel Holder-Espinasse, Judit Horvath, Silvia Maitz, Vincenzo Nigro, Manuela Morleo, Victoria Paul, Careni Spencer, Alina I Esterhu
神经
癫痫
Donkey
IgG
发表日期：2024
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The transcription factor c-Jun inhibits RBM39 to reprogram pre-mRNA splicing during genotoxic stress

转录因子 c-Jun 抑制 RBM39 在基因毒性应激期间重新编程前 mRNA 剪接

期刊:Nucleic Acids Research
影响因子:16.6
doi:10.1093/nar/gkac1130
Florence Lemaitre, Fatima Chakrama, Tina O'Grady, Olivier Peulen, Gilles Rademaker, Adeline Deward, Benoit Chabot, Jacques Piette, Alain Colige, Charles Lambert, Franck Dequiedt, Yvette Habraken
信号转导
发表日期：2022
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Independent Blinded Validation of a Tissue Systems Pathology Test to Predict Progression in Patients With Barrett's Esophagus

组织系统病理学检测预测巴雷特食管患者病情进展的独立盲法验证

期刊:American Journal of Gastroenterology
影响因子:7.6
doi:10.14309/ajg.0000000000000556
Davison, Jon M; Goldblum, John; Grewal, Udhayvir Singh; McGrath, Kevin; Fasanella, Kenneth; Deitrick, Christopher; DeWard, Aaron D; Bossart, Emily A; Hayward, Stephen L; Zhang, Yi; Critchley-Thorne, Rebecca J; Thota, Prashanthi N
发表日期：2020
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A SOX5 gene variant as a possible contributor to short stature

SOX5基因变异可能是导致身材矮小的原因之一

期刊:Endocrinology, Diabetes and Metabolism Case Reports
影响因子:0.7
doi:10.1530/EDM-20-0133
Gkirgkinoudis, Athanasios; Tatsi, Christina; DeWard, Stephanie J; Friedman, Bethany; Faucz, Fabio R; Stratakis, Constantine A
SOX
发表日期：2020
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Triheptanoin versus trioctanoin for long-chain fatty acid oxidation disorders: a double blinded, randomized controlled trial

三庚酸甘油酯与三辛酸甘油酯治疗长链脂肪酸氧化障碍的比较：一项双盲随机对照试验

期刊:Journal of Inherited Metabolic Disease
影响因子:3.8
doi:10.1007/s10545-017-0085-8
Gillingham, Melanie B; Heitner, Stephen B; Martin, Julie; Rose, Sarah; Goldstein, Amy; El-Gharbawy, Areeg Hassan; Deward, Stephanie; Lasarev, Michael R; Pollaro, Jim; DeLany, James P; Burchill, Luke J; Goodpaster, Bret; Shoemaker, James; Matern, Dietrich; Harding, Cary O; Vockley, Jerry
代谢
发表日期：2017
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Expansion of phenotype and genotypic data in CRB2-related syndrome

CRB2相关综合征的表型和基因型数据扩展

期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/ejhg.2016.24
Lamont, Ryan E; Tan, Wen-Hann; Innes, A Micheil; Parboosingh, Jillian S; Schneidman-Duhovny, Dina; Rajkovic, Aleksandar; Pappas, John; Altschwager, Pablo; DeWard, Stephanie; Fulton, Anne; Gray, Kathryn J; Krall, Max; Mehta, Lakshmi; Rodan, Lance H; Saller, Devereux N Jr; Steele, Deanna; Stein, Deborah; Yatsenko, Svetlana A; Bernier, François P; Slavotinek, Anne M
发表日期：2016
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CRB2 mutations produce a phenotype resembling congenital nephrosis, Finnish type, with cerebral ventriculomegaly and raised alpha-fetoprotein

CRB2基因突变产生的表型类似于芬兰型先天性肾病，伴有脑室扩大和甲胎蛋白升高。

期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2014.11.013
Slavotinek, Anne; Kaylor, Julie; Pierce, Heather; Cahr, Michelle; DeWard, Stephanie J; Schneidman-Duhovny, Dina; Alsadah, Adnan; Salem, Fadi; Schmajuk, Gabriela; Mehta, Lakshmi
神经科学
发表日期：2015
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Long-term major clinical outcomes in patients with long chain fatty acid oxidation disorders before and after transition to triheptanoin treatment--A retrospective chart review

长链脂肪酸氧化障碍患者在过渡到三庚酸甘油酯治疗前后长期主要临床结局的回顾性病历分析

期刊:Molecular Genetics and Metabolism
影响因子:3.5
doi:10.1016/j.ymgme.2015.06.006
Vockley, Jerry; Marsden, Deborah; McCracken, Elizabeth; DeWard, Stephanie; Barone, Amanda; Hsu, Kristen; Kakkis, Emil
代谢
发表日期：2015
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Tissue-Specific Effects of Esophageal Extracellular Matrix

食管细胞外基质的组织特异性作用

期刊:Tissue Engineering Part A
影响因子:3.5
doi:10.1089/ten.TEA.2015.0322
Timothy J Keane, Aaron DeWard, Ricardo Londono, Lindsey T Saldin, Arthur A Castleton, Lisa Carey, Alejandro Nieponice, Eric Lagasse, Stephen F Badylak
细胞生物学
其它细胞
发表日期：2015
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Role of the splicing factor SRSF4 in cisplatin-induced modifications of pre-mRNA splicing and apoptosis

剪接因子 SRSF4 在顺铂诱导的 mRNA 前体剪接修饰和细胞凋亡中的作用

期刊:BMC Cancer
影响因子:3.4
doi:10.1186/s12885-015-1259-0
Maude Gabriel, Yves Delforge, Adeline Deward, Yvette Habraken, Benoit Hennuy, Jacques Piette, Roscoe Klinck, Benoit Chabot, Alain Colige, Charles Lambert0
免疫
细胞生物学
其它细胞
Apoptosis
发表日期：2015
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