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

GA4GH phenopacket-driven characterization of genotype-phenotype correlations in Mendelian disorders

GA4GH表型包驱动的孟德尔遗传病基因型-表型相关性表征

Rekerle, Lauren; Danis, Daniel; Rehburg, Filip; Graefe, Adam S L; Bily, Viktor; Caballero-Oteyza, Andrés; Cacheiro, Pilar; Chimirri, Leonardo; Chong, Jessica X; Connelly, Evan; de Vries, Bert B A; Dingemans, Alexander J M; Duyzend, Michael H; Freiberger, Tomas; Gehle, Petra; Groza, Tudor; Hansen, Peter; Jacobsen, Julius O B; Klocperk, Adam; Ladewig, Markus S; Love, Michael I; Marcello, Allison J; Mordhorst, Alexander; Munoz-Torres, Monica C; Reese, Justin; Schuetz, Catharina; Smedley, Damian; Strauss, Timmy; Vladyka, Ondrej; Zocche, David; Thun, Sylvia; Mungall, Christopher J; Haendel, Melissa A; Robinson, Peter N

Proof-of-principle: nanopore adaptive sampling enables full blood group genome analysis and resolution of hybrid alleles

原理验证:纳米孔自适应取样可实现全血型基因组分析和杂交等位基因的解析

Gueuning, Morgan; Thun, Gian Andri; Koller, Samuel; Sigurdardottir, Sonja; Trost, Nadine; Wagner, Lukas; Mayer, Beate; Engström, Charlotte; Mattle-Greminger, Maja Patricia; Meyer, Stefan

No Differences in Outcomes Between Operative and Non-Operative Approaches for High-Grade Acromioclavicular Joint Injuries: A Systematic Review and Meta-analysis

高等级肩锁关节损伤手术治疗与非手术治疗结果无差异:系统评价和荟萃分析

Poovarodom, Noppanat; Kashemsri Na Ayudhaya, Natabhorn; Sanitwaja, Thanong; Itthipanichpong, Thun; Limskul, Danaithep; Tanpowpong, Thanathep; Kuptniratsaikul, Somsak; Thamrongskulsiri, Napatpong

Machine Listening for OSA Diagnosis: A Bayesian Meta-Analysis

利用机器监听诊断阻塞性睡眠呼吸暂停:贝叶斯荟萃分析

Tan, Benjamin Kye Jyn; Gao, Esther Yanxin; Tan, Nicole Kye Wen; Yeo, Brian Sheng Yep; Tan, Claire Jing-Wen; Ng, Adele Chin Wei; Leong, Zhou Hao; Phua, Chu Qin; Uataya, Maythad; Goh, Liang Chye; Ong, Thun How; Leow, Leong Chai; Huang, Guang-Bin; Toh, Song Tar

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。

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

Exchange of Quantitative Computed Tomography Assessed Body Composition Data Using Fast Healthcare Interoperability Resources as a Necessary Step Toward Interoperable Integration of Opportunistic Screening Into Clinical Practice: Methodological Development Study

利用快速医疗互操作性资源交换定量计算机断层扫描评估的身体成分数据,是实现机会性筛查与临床实践互操作整合的必要步骤:方法学开发研究

Wen, Yutong; Choo, Vin Yeang; Eil, Jan Horst; Thun, Sylvia; Pinto Dos Santos, Daniel; Kast, Johannes; Sigle, Stefan; Prokosch, Hans-Ulrich; Ovelgönne, Diana Lizzhaid; Borys, Katarzyna; Kohnke, Judith; Arzideh, Kamyar; Winnekens, Philipp; Baldini, Giulia; Schmidt, Cynthia Sabrina; Haubold, Johannes; Nensa, Felix; Pelka, Obioma; Hosch, René

Genomics on FHIR - a feasibility study to support a National Strategy for Genomic Medicine

基于FHIR的基因组学——一项支持国家基因组医学战略的可行性研究

Haffer, Nina; Stellmach, Caroline; Sass, Julian; Muzoora, Michael R; Graefe, Adam S L; Thun, Sylvia; Vorisek, Carina N

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。

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

Projectile weapon injuries in the Riparo Tagliente burial (Veneto, Italy) provide early evidence of Late Upper Paleolithic intergroup conflict

意大利威尼托大区里帕罗·塔格利恩特墓葬中发现的投射武器伤痕,为旧石器时代晚期群体间冲突提供了早期证据。

Sparacello, Vitale Stefano; Thun Hohenstein, Ursula; Boschin, Francesco; Crezzini, Jacopo; Guerreschi, Antonio; Fontana, Federica

Toward Interoperable Digital Medication Records on Fast Healthcare Interoperability Resources: Development and Technical Validation of a Minimal Core Dataset

基于快速医疗互操作性资源的可互操作数字药物记录:最小核心数据集的开发和技术验证

Salgado-Baez, Eduardo; Heidepriem, Raphael; Delucchi Danhier, Renate; Rinaldi, Eugenia; Ravi, Vishnu; Poncette, Akira-Sebastian; Dahlhaus, Iris; Fürstenau, Daniel; Balzer, Felix; Thun, Sylvia; Sass, Julian