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

An ontology-based rare disease common data model harmonising international registries, FHIR, and Phenopackets

基于本体的罕见病通用数据模型，协调国际注册库、FHIR 和 Phenopackets。

期刊:Scientific Data
影响因子:6.9
doi:10.1038/s41597-025-04558-z
Graefe, Adam S L; Hübner, Miriam R; Rehburg, Filip; Sander, Steffen; Klopfenstein, Sophie A I; Alkarkoukly, Samer; Grönke, Ana; Weyersberg, Annic; Danis, Daniel; Zschüntzsch, Jana; Nyoungui, Elisabeth F; Wiegand, Susanna; Kühnen, Peter; Robinson, Peter N; Beyan, Oya; Thun, Sylvia
发表日期：2025
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RareLink: scalable REDCap-based framework for rare disease interoperability linking international registries to FHIR and Phenopackets

RareLink：基于 REDCap 的可扩展罕见病互操作性框架，可将国际注册库与 FHIR 和 Phenopackets 连接起来。

期刊:npj Genomic Medicine
影响因子:4.8
doi:10.1038/s41525-025-00534-z
Graefe, Adam S L; Rehburg, Filip; Alkarkoukly, Samer; Danis, Daniel; Grönke, Ana; Hübner, Miriam R; Bartschke, Alexander; Debertshäuser, Thomas; Klopfenstein, Sophie A I; Saß, Julian; Fleck, Julia; Rehberg, Mirko; Zschüntzsch, Jana; Nyoungui, Elisabeth F; Kalashnikova, Tatiana; Murguía-Favela, Luis; Derfalvi, Beata; Wright, Nicola A M; Moosa, Shahida; Ogishima, Soichi; Semler, Oliver; Wiegand, Susanna; Kühnen, Peter; Mungall, Christopher J; Haendel, Melissa A; Robinson, Peter N; Thun, Sylvia; Beyan, Oya
RED
发表日期：2025
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Resistance to Thyroid Hormone in Crohn's Disease: A Clinical Challenge of Refractory Thyroid Stimulating Hormone Elevation and Therapeutic Dilemmas

克罗恩病中的甲状腺激素抵抗：难治性促甲状腺激素升高和治疗困境的临床挑战

期刊:Clinical Case Reports
影响因子:0.6
doi:10.1002/ccr3.71015
Al-Bitar, Ahmad; Al-Masalma, Dana; Alkarkoukly, Moumen; Al-Hawasli, Mohammad
克罗恩病
免疫/内分泌
发表日期：2025
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Linking international registries to FHIR and Phenopackets with RareLink: a scalable REDCap-based framework for rare disease data interoperability

利用 RareLink 将国际注册库与 FHIR 和 Phenopackets 连接起来：一个基于 REDCap 的可扩展罕见病数据互操作性框架

期刊:
影响因子:
doi:10.1101/2025.05.09.25327342
Graefe, Adam S L; Rehburg, Filip; Alkarkoukly, Samer; Danis, Daniel; Grönke, Ana; Hübner, Miriam R; Bartschke, Alexander; Debertshäuser, Thomas; Klopfenstein, Sophie A I; Saß, Julian; Fleck, Julia; Rehberg, Mirko; Zschüntzsch, Jana; Nyoungui, Elisabeth F; Kalashnikova, Tatiana; Murguía-Favela, Luis; Derfalvi, Beata; Wright, Nicola A M; Moosa, Shahida; Ogishima, Soichi; Semler, Oliver; Wiegand, Susanna; Kühnen, Peter; Mungall, Christopher J; Haendel, Melissa A; Robinson, Peter N; Thun, Sylvia; Beyan, Oya
RED
发表日期：2025
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Seeing the primary tumor because of all the trees: Cancer type prediction on low-dimensional data

利用树木信息发现原发肿瘤：基于低维数据的癌症类型预测

期刊:Frontiers in Medicine
影响因子:3
doi:10.3389/fmed.2024.1396459
Gehrmann, Julia; Soenarto, Devina Johanna; Hidayat, Kevin; Beyer, Maria; Quakulinski, Lars; Alkarkoukly, Samer; Berressem, Scarlett; Gundert, Anna; Butler, Michael; Grönke, Ana; Lennartz, Simon; Persigehl, Thorsten; Zander, Thomas; Beyan, Oya
肿瘤
肿瘤免疫
发表日期：2024
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Knowledge bases and software support for variant interpretation in precision oncology

精准肿瘤学中变异解读的知识库和软件支持

期刊:Briefings in Bioinformatics
影响因子:7.7
doi:10.1093/bib/bbab134
Borchert, Florian; Mock, Andreas; Tomczak, Aurelie; Hügel, Jonas; Alkarkoukly, Samer; Knurr, Alexander; Volckmar, Anna-Lena; Stenzinger, Albrecht; Schirmacher, Peter; Debus, Jürgen; Jäger, Dirk; Longerich, Thomas; Fröhling, Stefan; Eils, Roland; Bougatf, Nina; Sax, Ulrich; Schapranow, Matthieu-P
肿瘤
肿瘤免疫
发表日期：2021
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