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

COASY-Associated Disorders as a Differential Diagnosis in Cases with Newborn Screening Results Suggestive of CPT-I

COASY相关疾病作为新生儿筛查结果提示CPT-I病例的鉴别诊断

期刊:International Journal of Neonatal Screening
影响因子:4
doi:10.3390/ijns12020025
Stander, Zinandré; White, Amy L; Lynch, Matthew; Coman, David; Rosati, Justin; Bailey, Diana; Johnson, Jessica; Lee, Bo Hoon; Fong, ChinTo; Orsini, Joseph; Schultz, Matthew J; Oglesbee, Devin; Gavrilov, Dimitar; Matern, Dietrich; Hall, Patricia L; Tortorelli, Silvia
COASY
发表日期：2026
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Hemoglobin alpha-like subunit mu is expressed during ontogeny and is elevated in alpha thalassemia

血红蛋白α样亚基μ在个体发育过程中表达，并在α地中海贫血中升高。

期刊:
影响因子:
doi:10.1016/j.brci.2025.100043
Garapati, Kishore; Chavan, Sandip; Bellad, Anikha; Venkataraman, Shilpa; Oglesbee, Devin; Chakraborty, Rana; Wick, Myra J; Girard, Sylvie; Pandey, Akhilesh
发育与干细胞
贫血
代谢
发表日期：2026
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Clinical Insights Into Disaccharidase Deficiency: Prevalence, Intestinal Histology, and Outcomes

二糖酶缺乏症的临床见解：患病率、肠道组织学和预后

期刊:Mayo Clinic Proceedings
影响因子:6.7
doi:10.1016/j.mayocp.2025.07.023
Rao, Sameer; Schultz, Matthew; Lesmana, Elvira; Oglesbee, Devin; Absah, Imad; Grover, Madhusudan
发表日期：2025
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The clinical utility in hospital-wide use of growth differentiation factor 15 as a biomarker for mitochondrial DNA-related disorders

生长分化因子15作为线粒体DNA相关疾病生物标志物在全院临床应用中的实用性

期刊:Journal of Inherited Metabolic Disease
影响因子:3.8
doi:10.1002/jimd.12821
Fernández, Andrea Cortés; Estrella, Jane; Oglesbee, Devin; Larson, Austin A; Van Hove, Johan L K
线粒体
发表日期：2025
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Clinical Heterogeneity of Neuronal Ceroid Lipofuscinosis Type 13: A Case Report and Systematic Review of Literature

神经元蜡样脂褐质沉积症13型的临床异质性：病例报告及文献系统综述

期刊:Neurology-Genetics
影响因子:3.7
doi:10.1212/NXG.0000000000200227
Ghayal, Nikhil B; Roemer, Shanu F; Tipton, Philip W; Jiang, Peizhou; Selner, Elizabeth M; Peck, Dawn S; Murakami, Aya; Oglesbee, Devin; Graff-Radford, Neill R; Dickson, Dennis W
神经科学
发表日期：2025
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Case Report of Friedreich's Ataxia and ALG1 -Related Biochemical Abnormalities in a Patient With Progressive Spastic Paraplegia.

弗里德赖希共济失调和ALG1相关生化异常在进行性痉挛性截瘫患者中的病例报告

期刊:American Journal of Medical Genetics Part A
影响因子:1.7
doi:10.1002/ajmg.a.63890
Quinlan Aisling, Rodan Lance, Barkoudah Elizabeth, Tam Amy, Saffari Afshin, Shammas Ibrahim, Ranatunga Wasantha, Morava-Kozicz Eva, Oglesbee Devin, Berry Gerald, Ebrahimi-Fakhari Darius, Srivastava Siddharth
其它
发表日期：2025
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An evaluation of untargeted metabolomics methods to characterize inborn errors of metabolism

对用于表征先天性代谢缺陷的非靶向代谢组学方法进行评估

期刊:Molecular Genetics and Metabolism
影响因子:3.5
doi:10.1016/j.ymgme.2023.108115
Wurth, Rachel; Turgeon, Coleman; Stander, Zinandré; Oglesbee, Devin
代谢
发表日期：2024
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488 From discovery to the clinical laboratory: a methodological appraisal of untargeted metabolomics platforms to characterize inborn errors of metabolism

488 从发现到临床实验室：非靶向代谢组学平台在表征先天性代谢缺陷中的方法学评价

期刊:Current Opinion in Clinical Nutrition and Metabolic Care
影响因子:3.5
doi:10.1097/MCO.0b013e32832f1916
Zivkovic, Angela M; German, J Bruce; Wurth, Rachel; Turgeon, Coleman; Stander, Zinandré; Oglesbee, Devin
代谢
发表日期：2024
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A review of multiple diagnostic approaches in the undiagnosed diseases network to identify inherited metabolic diseases

对未确诊疾病网络中多种诊断方法进行综述，以识别遗传性代谢疾病

期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/s13023-024-03423-3
Furuta, Yutaka; Tinker, Rory J; Hamid, Rizwan; Cogan, Joy D; Ezell, Kimberly M; Oglesbee, Devin; DeBerardinis, Ralph J; Phillips, John A 3rd
代谢
发表日期：2024
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SMN1 c.5C>G (p.Ala2Gly) missense variant, a challenging molecular SMA diagnosis associated with mild disease, preserves SMN nuclear gems in patient-specific fibroblasts

SMN1 c.5C>G (p.Ala2Gly) 错义变异是一种具有挑战性的分子 SMA 诊断方法，与轻度疾病相关，它保留了患者特异性成纤维细胞中的 SMN 核宝石。

期刊:Frontiers in Genetics
影响因子:2.8
doi:10.3389/fgene.2024.1406819
Cook, Sara L; Stout, Christian; Kirkeby, Lindsey; Vidal-Folch, Noemi; Oglesbee, Devin; Hasadsri, Linda; Selcen, Duygu; Milone, Margherita; Anderson, Daniel; Staff, Nathan P
SMN
细胞生物学
SMN1
成纤维细胞
发表日期：2024
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