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Devin Oglesbee

mayo clinic

41H指数
217论文数
5.8K被引数
收录论文 105
发表时间
Analysis of purines and pyrimidines across biospecimens: influence of storage temperature and duration不同生物样本中嘌呤和嘧啶的分析:储存温度和时间的影响
err2026-05-30
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errOAAI
errRachel Wurth; Coleman Turgeon; Jean Lacey; Zinandré Stander; Dimitar Gavrilov; Patricia L. Hall; Dietrich Matern; Matthew Schultz; Silvia Tortorelli; Devin Oglesbee
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COASY-Associated Disorders as a Differential Diagnosis in Cases with Newborn Screening Results Suggestive of CPT-ICOASY相关障碍作为新生儿筛查结果提示CPT-I的鉴别诊断
err2026-04-17
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errOAAI
errZinandré Stander; Amy L. White; Matthew Lynch; David Coman; Justin Rosati; Diana Bailey; Jessica Johnson; Bo Hoon Lee; ChinTo Fong; Joseph Orsini; Matthew J. Schultz; Devin Oglesbee; Dimitar Gavrilov; Dietrich Matern; Patricia L. Hall; Silvia Tortorelli
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Clinically Discordant Siblings with Spinal Muscular Atrophy: Insights from their Patient-Specific iPSC-Derived Motor Neurons and Literature Review临床不一致性脊髓性肌萎缩症同胞:来自其患者特异性iPSC来源运动神经元及文献综述
err2025-12-13
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errOAAI
errSara L. Cook; Tyller Mensa; Henry Noma; Maya Jahnke; Noemi Vidal Folch; Christian Stout; Ron Hrstka; Sybil Hrstka; Lindsey Kirkeby; Devin Oglesbee; Linda Hasadsri; Duygu Selcen; Nathan P. Staff
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Clinical utility of untargeted urine oligosaccharide screening未靶向尿液寡糖筛查的临床应用价值
err2025-10-24
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PREAI
errGisele Bentz Pino; Marie A. Quade; Matthew J. Schultz; Amy L. White; Dawn S. Peck; April L. Studinski Jones; Dimitar K. Gavrilov; Devin Oglesbee; Silvia Tortorelli; Dietrich Matern; Patricia L. Hall
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Reduction of False-Positive Results With Biochemical Second-Tier Testing for Newborn Screening of Pompe Disease通过生化二级检测减少庞贝病新生儿筛查中的假阳性结果
err2025-10-10
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PREAI
errIbrahim T. Khoja; Dawn S. Peck; Dimitar K. Gavrilov; Molly A. McPheron; Devin Oglesbee; Gisele Bentz Pino; Katie L. Sapp; Matthew J. Schultz; April L. Studinski Jones; Amy L. White; Silvia Tortorelli; Dietrich Matern; Patricia L. Hall
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DMD Duplications Identified by Carrier Screening Should NOT Automatically Be Classified as [Likely] Pathogenic: Data from Long-Read Sequencing of 15 Cases通过携带者筛查鉴定的DMD重复变异不应自动归类为[可能]致病性:15例长读长测序数据
err2025-10-01
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errOAAI
errHasadsri, Linda; Ding, Qiliang; Balan, Jagadheshwar; Vidal-Folch, Noemi; Pickart, Angela; Sun, Guangchao; Walsh, Jesse; Majumdar, Ramanath; Klee, Eric; Murphy, Stephen; Oglesbee, Devin; Rowsey, Ross
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Screening and Diagnosis of Lysosomal Disorders: Biochemical and Genomic Approaches溶酶体疾病的筛查与诊断:生化与基因组学方法
err2025-09-25
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PREAI
errMatthew J. Schultz; Patricia L. Hall; Gisele Bentz Pino; Amy L. White; Dawn S. Peck; April L. Studinski; Jenny M. Thies; Dimitar Gavrilov; Devin Oglesbee; Silvia Tortorelli; Dietrich Matern
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Two-tiered newborn screening for Infantile Krabbe disease allows for timely treatment initiation and avoids false positive results两阶段新生儿筛查可实现对婴儿克-亚二氏病的及时治疗启动,并避免假阳性结果。
err2025-08-29
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PREAI
errPatricia L. Hall; Amy L. White; Dawn Peck; Gisele Pino; April Studinski; Dimitar Gavrilov; Devin Oglesbee; Matthew J. Schultz; Silvia Tortorelli; Dietrich Matern
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Rethinking the pathogenicity of intragenic DMD duplications detected by carrier screening: high prevalence of non-tandem duplications revealed by long-read sequencing重新思考通过携带者筛查检测到的基因内DMD重复片段的致病性:长读长测序揭示了非串联重复片段的高发生率
err2025-08-05
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PREAI
errQiliang Ding; Jagadheshwar Balan; Noemi Vidal-Folch; Angela M. Pickart; Guangchao Sun; Jesse R. Walsh; Ramanath Majumdar; Eric W. Klee; Stephen J. Murphy; Devin Oglesbee; Ross A. Rowsey; Linda Hasadsri
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The impact of newborn screening on the age of patients referred for testing and with confirmed diagnoses of Pompe disease and mucopolysaccharidosis type I
err2025-02-01
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PREAI
errKhoja, Ibrahim T.; Peck, Dawn; White, Amy; Studinski, April; Oglesbee, Devin; Matern, Dietrich; Gavrilov, Dimitar; Schultz, Matthew; Tortorelli, Silvia; Hall, Patricia
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Characterizing and validating the small molecule signature of Krabbe disease plasma using untargeted metabolomics analysis
err2025-02-01
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PREAI
errWurth, Rachel; Turgeon, Coleman; Stander, Zinandre; Matern, Dietrich; White, Amy L.; Gavrilov, Dimitar; Hall, Patricia L.; Schult, Matthew; Tortorelli, Silvia; Oglesbee, Devin
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Clinical Heterogeneity of Neuronal Ceroid Lipofuscinosis Type 13
err2025-02-01
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PREAI
errGhayal, 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.
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A review of multiple diagnostic approaches in the undiagnosed diseases network to identify inherited metabolic diseases
err2024-11-14
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errOAAI
errFuruta, Yutaka; Tinker, Rory J.; Hamid, Rizwan; Cogan, Joy D.; Ezell, Kimberly M.; Oglesbee, Devin; DeBerardinis, Ralph J.; Phillips, John A.
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Clinical Insights Into Disaccharidase Deficiency: Prevalence, Intestinal Histology, and Outcomes at a Tertiary Care Center
err2024-10-01
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PREAI
errRao, Sameer; Schultz, Matthew; Lesmana, Elvira; Oglesbee, Devin; Absah, Imad; Grover, Madhusudan
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Sensitivity of transferrin isoform analysis for PMM2-CDG转铁蛋白异构体分析对PMM2-CDG的敏感性
err2024-09-01
err2
PREAI
errHall, Patrica L.; Liedke, Kris; Turgeon, Coleman; White, Amy; Pino, Gesele Bentz; Peck, Dawn; Studinski, April; Gavrilov, Dimitar; Tortorelli, Silvia; Oglesbee, Devin; Matern, Dietrich; Raymond, Kimiyo; Schultz, Matthew J.
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Development of a Multiplexed Sphingolipids Method for Diagnosis of Inborn Errors of Ceramide Metabolism开发用于诊断神经酰胺代谢的先天性错误的多重鞘脂方法
err2024-08-29
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errOAAI
errByeon, Seul Kee; Kim, Jinyong; Wegwerth, Peter Jared; Zenka, Roman; George, John P.; Pinto e Vairo, Filippo; Oglesbee, Devin; Schultz, Matthew J.; Matern, Dietrich; Pandey, Akhilesh
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SLC6A8 creatine transporter deficiency can be detected by plasma creatine and creatinine concentrations
err2024-05-01
err2
PREAI
errSanders, Karen; Peck, Dawn; Pino, Gisele Bentz; Jones, April Studinski; White, Amy; Gavrilov, Dimitar; Matern, Dietrich; Oglesbee, Devin; Schultz, Matthew; Tortorelli, Silvia; Hall, Patricia L.
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