Helby相关文献与解析，生知库 | 链接生命科学的每一步

Juhl, Anne Rudbeck; Glenthøj, Andreas; Nordestgaard, Børge Grønne; Petersen, Jesper; Pham, Michael Huy Cuong; Kofoed, Klaus Fuglsang; Kühl, Jørgen Tobias; Fuchs, Andreas; Sigvardsen, Per Ejlstrup; Kristensen, Thomas Skårup; Bojesen, Stig Egil; Rønnemoes, Rasmus; Helby, Jens

肿瘤

肿瘤免疫

发表日期：2026

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C282Y Homozygosity Increases Erythrocyte Turnover and Decreases HbA1c-A Population-Based Study

C282Y纯合子增加红细胞周转率并降低HbA1c——一项基于人群的研究

期刊:International Journal of Molecular Sciences

影响因子:4.9

doi:10.3390/ijms27052410

Hillingsø, Rebekka; Kjaergaard, Alisa Devedzic; Larsen, Morten Kranker; Mandrup-Poulsen, Thomas; Poulsen, Henrik Enghusen; Mottelson, Mathis; Petersen, Jesper Brix; Nordestgaard, Børge Grønne; Hasselbalch, Hans Carl; Bojesen, Stig Egil; Helby, Jens; Glenthøj, Andreas; Ellervik, Christina

Accurate diagnosis of hemoglobinopathies with machine learning based on high-throughput proteomics

基于高通量蛋白质组学的机器学习在血红蛋白病精准诊断中的应用

期刊:Hemasphere

影响因子:14.6

doi:10.1002/hem3.70227

Wei, Shaodong; Nielsen, Annelaura Bach; Helby, Jens; Drici, Lylia; Rasmussen, Christine; Wang, Juanjuan; Mann, Matthias; Petersen, Jesper; Wewer Albrechtsen, Nicolai J; Glenthøj, Andreas

发表日期：2025

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Unexpected absence of fetal hemoglobin induction by lenalidomide in a patient with sickle cell anemia with concurrent multiple myeloma

镰状细胞贫血合并多发性骨髓瘤患者接受来那度胺治疗后，意外未出现胎儿血红蛋白诱导作用

期刊:Orphanet Journal of Rare Diseases

影响因子:3.5

doi:10.1186/s13023-025-04052-0

Rønnemoes, Rasmus; Helby, Jens; Nardo-Marino, Amina; Dziegiel, Morten Hanefeld; Petersen, Jesper; Szabo, Agoston Gyula; Toft, Nina; Glenthøj, Andreas

Machine Learning-Based Detection of HbS and HbC Carriers in the UK General Population

基于机器学习的英国普通人群中HbS和HbC携带者检测

期刊:eJHaem

影响因子:1.2

doi:10.1002/jha2.70170

Christensen, Frederik; Kenan Kılıç, Deniz; Fuglkjær, Alexander Djupnes; Petersen, Jesper; El-Galaly, Tarec Christoffer; Glenthøj, Andreas; Helby, Jens; Nielsen, Izabela Ewa

发表日期：2025

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Mortality and risk of diabetes, liver disease, and heart disease in individuals with haemochromatosis HFE C282Y homozygosity and normal concentrations of iron, transferrin saturation, or ferritin: prospective cohort study

血色素沉着症HFE C282Y纯合子且铁、转铁蛋白饱和度或铁蛋白浓度正常的个体发生死亡率及糖尿病、肝病和心脏病的风险：前瞻性队列研究

期刊:Bmj-British Medical Journal

影响因子:42.7

doi:10.1136/bmj-2023-079147

Mottelson, Mathis; Helby, Jens; Nordestgaard, Børge Grønne; Ellervik, Christina; Mandrup-Poulsen, Thomas; Petersen, Jesper; Bojesen, Stig Egil; Glenthøj, Andreas

Causal discovery and epidemiology: a potential for synergy

因果发现与流行病学：潜在的协同作用

期刊:American Journal of Epidemiology

影响因子:4.8

doi:10.1093/aje/kwae101

Petersen, Anne Helby; Ekstrøm, Claus Thorn; Spirtes, Peter; Osler, Merete

发表日期：2024

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DAHEAN: A Danish nationwide study ensuring quality assurance through real-world data for suspected hereditary anemia patients

DAHEAN：一项丹麦全国性研究，旨在通过真实世界数据确保疑似遗传性贫血患者的医疗质量。

期刊:Orphanet Journal of Rare Diseases

影响因子:3.5

doi:10.1186/s13023-024-03298-4

Glenthøj, Andreas; Rasmussen, Andreas Ørslev; Bendtsen, Selma Kofoed; Hasle, Henrik; Hoffmann, Marianne; Rieneck, Klaus; Dziegiel, Morten Hanefeld; Sjö, Lene Dissing; Frederiksen, Henrik; Hansen, Dennis Lund; Fassi, Daniel El; Rathe, Mathias; Jensen, Peter-Diedrich Matthias; Winther-Larsen, Anne; Nielsen, Christian; Olsen, Marianne; Toft, Nina; Lorenzen, Mads Okkels Birk; Jensen, Lise Heilmann; Gudbrandsdottir, Sif; Helby, Jens; Rossing, Maria; van Wijk, Richard; Petersen, Jesper

Designing a single-arm phase 2 clinical trial of mitapivat for adult patients with erythrocyte membranopathies (SATISFY): a framework for interventional trials in rare anaemias - pilot study protocol

设计一项针对成人红细胞膜病患者的单臂 II 期临床试验（SATISFY）：罕见贫血干预性试验框架——试点研究方案

期刊:BMJ Open

影响因子:2.3

doi:10.1136/bmjopen-2023-083691

Glenthøj, Andreas; van Beers, Eduard J; van Wijk, Richard; Rab, Minke A E; Groot, Evelyn; Vejlstrup, Niels; Toft, Nina; Bendtsen, Selma Kofoed; Petersen, Jesper; Helby, Jens; Chermat, Fatiha; Fenaux, Pierre; Kuo, Kevin H M

Constructing Causal Life-Course Models: Comparative Study of Data-Driven and Theory-Driven Approaches

构建因果生命历程模型：数据驱动方法与理论驱动方法的比较研究

期刊:American Journal of Epidemiology

影响因子:4.8

doi:10.1093/aje/kwad144

Petersen, Anne Helby; Ekstrøm, Claus Thorn; Spirtes, Peter; Osler, Merete

发表日期：2023

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Incidentally Detected Splenomegaly and Risk of Hematologic Cancer and Liver Disease

偶然发现的脾肿大与血液系统癌症和肝病风险

C282Y Homozygosity Increases Erythrocyte Turnover and Decreases HbA1c-A Population-Based Study

C282Y纯合子增加红细胞周转率并降低HbA1c——一项基于人群的研究

Accurate diagnosis of hemoglobinopathies with machine learning based on high-throughput proteomics

基于高通量蛋白质组学的机器学习在血红蛋白病精准诊断中的应用

Unexpected absence of fetal hemoglobin induction by lenalidomide in a patient with sickle cell anemia with concurrent multiple myeloma

镰状细胞贫血合并多发性骨髓瘤患者接受来那度胺治疗后，意外未出现胎儿血红蛋白诱导作用

Machine Learning-Based Detection of HbS and HbC Carriers in the UK General Population

基于机器学习的英国普通人群中HbS和HbC携带者检测

Mortality and risk of diabetes, liver disease, and heart disease in individuals with haemochromatosis HFE C282Y homozygosity and normal concentrations of iron, transferrin saturation, or ferritin: prospective cohort study

血色素沉着症HFE C282Y纯合子且铁、转铁蛋白饱和度或铁蛋白浓度正常的个体发生死亡率及糖尿病、肝病和心脏病的风险：前瞻性队列研究

Causal discovery and epidemiology: a potential for synergy

因果发现与流行病学：潜在的协同作用

DAHEAN: A Danish nationwide study ensuring quality assurance through real-world data for suspected hereditary anemia patients

DAHEAN：一项丹麦全国性研究，旨在通过真实世界数据确保疑似遗传性贫血患者的医疗质量。

Designing a single-arm phase 2 clinical trial of mitapivat for adult patients with erythrocyte membranopathies (SATISFY): a framework for interventional trials in rare anaemias - pilot study protocol

设计一项针对成人红细胞膜病患者的单臂 II 期临床试验（SATISFY）：罕见贫血干预性试验框架——试点研究方案

Constructing Causal Life-Course Models: Comparative Study of Data-Driven and Theory-Driven Approaches

构建因果生命历程模型：数据驱动方法与理论驱动方法的比较研究