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

Adeno-Associated Virus Gene Therapy Development: Early Planning and Regulatory Considerations to Advance the Platform Vector Gene Therapy Program

腺相关病毒基因治疗开发：推进平台载体基因治疗项目的早期规划和监管考量

期刊:Human Gene Therapy
影响因子:4
doi:10.1089/hum.2024.230
Lomash, Richa Madan; Dehdashti, Jean; Shchelochkov, Oleg A; Chandler, Randy J; Li, Lina; Manoli, Irini; Sloan, Jennifer L; Terse, Pramod; Xu, Xin; Saade, Dimah; Stan, Rodica; Brooks, Philip J; Lo, Donald C; Bönnemann, Carsten G; Venditti, Charles P; Pariser, Anne R; Ottinger, Elizabeth A
微生物学
基因治疗
发表日期：2025
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Metabolic rerouting of valine and isoleucine oxidation increases survival in zebrafish models of disorders of propionyl-CoA metabolism.

缬氨酸和异亮氨酸氧化的代谢重排可提高丙酰辅酶A代谢紊乱斑马鱼模型的存活率

期刊:Human Molecular Genetics
影响因子:3.2
doi:10.1093/hmg/ddaf100
Hong Sungkook, Pardo Joel, Head PamelaSara E, Ellis Katharine T, Arnold Madeline L, Achilly Nathan P, Carrington Blake, Bishop Kevin, Sood Raman, Kratz Lisa, Sloan Jennifer L, Shchelochkov Oleg A, Venditti Charles P
代谢
Fish
发表日期：2025
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Intellectual disability and autism in propionic acidemia: a biomarker-behavioral investigation implicating dysregulated mitochondrial biology

丙酸血症中的智力障碍和自闭症：一项涉及线粒体生物学失调的生物标志物行为调查

期刊:Molecular Psychiatry
影响因子:9.6
doi:10.1038/s41380-023-02385-5
Oleg A Shchelochkov, Cristan A Farmer, Colby Chlebowski, Dee Adedipe, Susan Ferry, Irini Manoli, Alexandra Pass, Samantha McCoy, Carol Van Ryzin, Jennifer Sloan, Audrey Thurm, Charles P Venditti
神经
自闭症
发表日期：2024
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Successfully Navigating Food and Drug Administration Orphan Drug and Rare Pediatric Disease Designations for AAV9-hPCCA Gene Therapy: The National Institutes of Health Platform Vector Gene Therapy Experience

成功获得美国食品药品监督管理局 (FDA) 孤儿药和罕见儿科疾病认定：AAV9-hPCCA 基因疗法的美国国立卫生研究院平台载体基因疗法经验

期刊:Human Gene Therapy
影响因子:4
doi:10.1089/hum.2022.232
Lomash, Richa Madan; Shchelochkov, Oleg; Chandler, Randy J; Venditti, Charles P; Pariser, Anne R; Ottinger, Elizabeth A
PCCA
发表日期：2023
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Probing the functional consequence and clinical relevance of CD320 p.E88del, a variant in the transcobalamin receptor gene

探讨转钴胺受体基因变体 CD320 p.E88del 的功能后果和临床意义

期刊:American Journal of Medical Genetics Part A
影响因子:1.7
doi:10.1002/ajmg.a.62627
Faith Pangilinan, David Watkins, David Bernard, Yue Chen, Ningzheng Dong, Qingyu Wu, Hatice Ozel-Abaan, Manjit Kaur, Michele Caggana, Mark Morrissey, Marilyn L Browne, James L Mills, Carol Van Ryzin, Oleg Shchelochkov, Jennifer Sloan, Charles P Venditti, Kyriakie Sarafoglou, David S Rosenblatt, Deni
信号转导
发表日期：2022
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1-(13)C-propionate breath testing as a surrogate endpoint to assess efficacy of liver-directed therapies in methylmalonic acidemia (MMA)

1-(13)C-丙酸呼气试验作为评估甲基丙二酸血症 (MMA) 肝脏靶向治疗疗效的替代终点

期刊:Genetics in Medicine
影响因子:6.2
doi:10.1038/s41436-021-01143-8
Manoli, Irini; Pass, Alexandra R; Harrington, Elizabeth A; Sloan, Jennifer L; Gagné, Jack; McCoy, Samantha; Bell, Sarah L; Hattenbach, Jacob D; Leitner, Brooks P; Duckworth, Courtney J; Fletcher, Laura A; Cassimatis, Thomas M; Galarreta, Carolina I; Thurm, Audrey; Snow, Joseph; Van Ryzin, Carol; Ferry, Susan; Mew, Nicholas Ah; Shchelochkov, Oleg A; Chen, Kong Y; Venditti, Charles P
多发性骨髓瘤
发表日期：2021
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Correction to: 1-(13)C-propionate breath testing as a surrogate endpoint to assess efficacy of liver-directed therapies in methylmalonic acidemia (MMA)

更正：1-(13)C-丙酸呼气试验作为评估甲基丙二酸血症 (MMA) 肝脏靶向治疗疗效的替代终点

期刊:Genetics in Medicine
影响因子:6.2
doi:10.1038/s41436-021-01188-9
Manoli, Irini; Pass, Alexandra R; Harrington, Elizabeth A; Sloan, Jennifer L; Gagné, Jack; McCoy, Samantha; Bell, Sarah L; Hattenbach, Jacob D; Leitner, Brooks P; Duckworth, Courtney J; Fletcher, Laura A; Cassimatis, Thomas M; Galarreta, Carolina I; Thurm, Audrey; Snow, Joseph; Van Ryzin, Carol; Ferry, Susan; Mew, Nicholas Ah; Shchelochkov, Oleg A; Chen, Kong Y; Venditti, Charles P
多发性骨髓瘤
发表日期：2021
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Severity modeling of propionic acidemia using clinical and laboratory biomarkers

利用临床和实验室生物标志物对丙酸血症的严重程度进行建模

期刊:Genetics in Medicine
影响因子:6.2
doi:10.1038/s41436-021-01173-2
Shchelochkov, Oleg A; Manoli, Irini; Juneau, Paul; Sloan, Jennifer L; Ferry, Susan; Myles, Jennifer; Schoenfeld, Megan; Pass, Alexandra; McCoy, Samantha; Van Ryzin, Carol; Wenger, Olivia; Levin, Mark; Zein, Wadih; Huryn, Laryssa; Snow, Joseph; Chlebowski, Colby; Thurm, Audrey; Kopp, Jeffrey B; Chen, Kong Y; Venditti, Charles P
发表日期：2021
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Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice

FRAS1相关细胞外基质1 (FREM1) 缺乏会导致人类和小鼠发生先天性膈疝。

期刊:Human Molecular Genetics
影响因子:3.2
doi:10.1093/hmg/ddz307
Beck, Tyler F; Veenma, Danielle; Shchelochkov, Oleg A; Yu, Zhiyin; Kim, Bum Jun; Zaveri, Hitisha P; van Bever, Yolande; Choi, Sunju; Douben, Hannie; Bertin, Terry K; Patel, Pragna I; Lee, Brendan; Tibboel, Dick; de Klein, Annelies; Stockton, David W; Justice, Monica J; Scott, Daryl A
细胞生物学
RAS
发表日期：2020
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Chronic kidney disease in propionic acidemia

丙酸血症合并慢性肾脏病

期刊:Genetics in Medicine
影响因子:6.2
doi:10.1038/s41436-019-0593-z
Shchelochkov, Oleg A; Manoli, Irini; Sloan, Jennifer L; Ferry, Susan; Pass, Alexandra; Van Ryzin, Carol; Myles, Jennifer; Schoenfeld, Megan; McGuire, Peter; Rosing, Douglas R; Levin, Mark D; Kopp, Jeffrey B; Venditti, Charles P
发表日期：2019
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