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

CRTAP-Null Osteoblasts Have Increased Proliferation, Protein Secretion, and Skeletal Morphogenesis Gene Expression with Downregulation of Cellular Adhesion.

CRTAP 缺失的成骨细胞增殖、蛋白质分泌和骨骼形态发生基因表达增加，同时细胞粘附下调

期刊:Cells
影响因子:5.2
doi:10.3390/cells14070518
Barnes Aileen M, Mitra Apratim, Knue Marianne M, Derkyi Alberta, Dang Do An, Dale Ryan K, Marini Joan C
细胞生物学
Adhesion/ECM
发表日期：2025
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MEHMO syndrome: Review and proposed classification as an eIF2-related neuroendocrinopathy

MEHMO综合征：回顾及作为eIF2相关神经内分泌病的分类建议

期刊:Molecular Genetics and Metabolism
影响因子:3.5
doi:10.1016/j.ymgme.2025.109287
Dang Do, An N; Navid, Fatemeh; Young-Baird, Sara K
发表日期：2025
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Six induced pluripotent stem cell lines from fibroblasts of individuals with CLN3-related conditions.

从患有 CLN3 相关疾病的个体的成纤维细胞中诱导出六种多能干细胞系

期刊:Stem Cell Research
影响因子:0.7
doi:10.1016/j.scr.2024.103563
Dwojak Ewelina, O'Mard Danielle, Zou Jizhong, Wassif Christopher A, Burkett Sandra, Eckhaus Michael, Rueda Faucz Fabio, Padilla Cameron, Villasmil Rafael, Zheng Wei, Dang Do An N
发育与干细胞
细胞生物学
发表日期：2024
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Chromosomal microarray analysis supplements exome sequencing to diagnose children with suspected inborn errors of immunity

染色体微阵列分析是对外显子组测序的补充，用于诊断疑似患有先天性免疫缺陷的儿童。

期刊:Frontiers in Immunology
影响因子:5.9
doi:10.3389/fimmu.2023.1172004
Beers, Breanna J; Similuk, Morgan N; Ghosh, Rajarshi; Seifert, Bryce A; Jamal, Leila; Kamen, Michael; Setzer, Michael R; Jodarski, Colleen; Duncan, Rylee; Hunt, Devin; Mixer, Madison; Cao, Wenjia; Bi, Weimin; Veltri, Daniel; Karlins, Eric; Zhang, Lingwen; Li, Zhiwen; Oler, Andrew J; Jevtich, Kathleen; Yu, Yunting; Hullfish, Haley; Bielekova, Bibiana; Frischmeyer-Guerrerio, Pamela; Dang Do, An; Huryn, Laryssa A; Olivier, Kenneth N; Su, Helen C; Lyons, Jonathan J; Zerbe, Christa S; Rao, V Koneti; Keller, Michael D; Freeman, Alexandra F; Holland, Steven M; Franco, Luis M; Walkiewicz, Magdalena A; Yan, Jia
免疫/内分泌
发表日期：2023
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Elevated oxysterol and N-palmitoyl-O-phosphocholineserine levels in congenital disorders of glycosylation

先天性糖基化障碍中氧固醇和N-棕榈酰-O-磷酸胆碱丝氨酸水平升高

期刊:Journal of Inherited Metabolic Disease
影响因子:3.8
doi:10.1002/jimd.12595
Dang Do, An N; Chang, Irene J; Jiang, Xutian; Wolfe, Lynne A; Ng, Bobby G; Lam, Christina; Schnur, Rhonda E; Allis, Katrina; Hansikova, Hana; Ondruskova, Nina; O'Connor, Shawn D; Sanchez-Valle, Amarilis; Vollo, Arve; Wang, Raymond Y; Wolfenson, Zoe; Perreault, John; Ory, Daniel S; Freeze, Hudson H; Merritt, J Lawrence; Porter, Forbes D
发表日期：2023
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Pulmonary function and structure abnormalities in children and young adults with osteogenesis imperfecta point to intrinsic and extrinsic lung abnormalities

成骨不全患儿和青少年的肺功能和结构异常表明存在内在和外在的肺部异常。

期刊:Journal of Medical Genetics
影响因子:3.7
doi:10.1136/jmg-2022-109009
Gochuico, Bernadette R; Hossain, Mahin; Talvacchio, Sara K; Zuo, Mei Xing G; Barton, Mark; Dang Do, An Ngoc; Marini, Joan C
发表日期：2023
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Brain proton MR spectroscopy measurements in CLN3 disease

CLN3 疾病的脑质子磁共振波谱测量

期刊:Molecular Genetics and Metabolism
影响因子:3.5
doi:10.1016/j.ymgme.2023.107584
Dang Do, An N; Baker, Eva H; Farmer, Cristan A; Soldatos, Ariane G; Thurm, Audrey E; Porter, Forbes D
神经科学
发表日期：2023
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Elevated cerebrospinal fluid ubiquitin C-terminal hydrolase-L1 levels correlate with phenotypic severity and therapeutic response in Niemann-Pick disease, type C1

脑脊液中泛素C端水解酶-L1水平升高与尼曼-匹克病C1型的表型严重程度和治疗反应相关

期刊:Molecular Genetics and Metabolism
影响因子:3.5
doi:10.1016/j.ymgme.2023.107656
Cawley, Niamh X; Giddens, Spencer; Farhat, Nicole M; Luke, Rachel A; Scott, Katelin E J; Mohamed, Hibaaq O; Dang Do, An; Berry-Kravis, Elizabeth; Cologna, Stephanie M; Liu, Fang; Porter, Forbes D
神经科学
发表日期：2023
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Elevated amyloid beta peptides and total tau in cerebrospinal fluid in individuals with Creatine transporter deficiency

肌酸转运体缺乏症患者脑脊液中β-淀粉样蛋白肽和总tau蛋白水平升高

期刊:Molecular Genetics and Metabolism Reports
影响因子:1.9
doi:10.1016/j.ymgmr.2023.101001
Rahhal, Samar; Farmer, Cristan; Thurm, Audrey; Wassif, Christopher A; Cawley, Niamh X; Perreault, John; Dang Do, An; Bianconi, Simona; Hannah-Shmouni, Fady; Guthrie, Whitney; Cubit, Laura S; Miller, Judith S; Sutton, V Reid; Koeberl, Dwight; Porter, Forbes D
神经科学
发表日期：2023
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Corrigendum to "Elevated amyloid beta peptides and total tau in cerebrospinal fluid in individuals with Creatine transporter deficiency"

关于“肌酸转运蛋白缺乏症患者脑脊液中淀粉样β肽和总tau蛋白升高”一文的更正

期刊:Molecular Genetics and Metabolism Reports
影响因子:1.9
doi:10.1016/j.ymgmr.2023.101013
Rahhal, Samar; Farmer, Cristan; Thurm, Audrey; Wassif, Christopher A; Cawley, Niamh X; Perreault, John; Dang Do, An; Bianconi, Simona; Hannah-Shmouni, Fady; Guthrie, Whitney; Cubit, Laura S; Miller, Judith S; Sutton, V Reid; Koeberl, Dwight; Porter, Forbes D
神经科学
发表日期：2023
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