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

A biallelic MRPL42 variant causes a combined oxidative phosphorylation deficiency syndrome revealed by multi-omics.

多组学研究揭示,MRPL42 双等位基因变异会导致联合氧化磷酸化缺乏综合征。

Boschann Felix, Kopp Johannes, Römer Susanne, Küchler Oliver, Lyubenova Hristiana, von Kügelgen Nicolai, Hertstein Erik, Hagelstein Lea, Becker Christian, Becker Kerstin, Brachs Sebastian, Mai Knut, Meierhofer David, Seelow Dominik, Mundlos Stefan, Horn Denise, Schuelke Markus, Fischer-Zirnsak Björn

DNAvi: integration, statistics, and visualization of cell-free DNA fragment traces

DNAvi:无细胞DNA片段轨迹的整合、统计和可视化

Hess, Anja; Seelow, Dominik; Kretzmer, Helene

Consistent performance of large language models in rare disease diagnosis across ten languages and 4917 cases

大型语言模型在十种语言和 4917 个病例的罕见病诊断中表现出一致的性能

Chimirri, Leonardo; Caufield, J Harry; Bridges, Yasemin; Matentzoglu, Nicolas; Gargano, Michael; Cazalla, Mario; Chen, Shihan; Danis, Daniel; Dingemans, Alexander J M; Gehle, Klara; Gehle, Petra; Graefe, Adam S L; Gu, Weihong; Ladewig, Markus S; Lapunzina, Pablo; Nevado, Julián; Niyonkuru, Enock; Ogishima, Soichi; Seelow, Dominik; Tenorio Castaño, Jair A; Turnovec, Marek; de Vries, Bert B A; Wang, Kai; Wissink, Kyran; Yüksel, Zafer; Zucca, Gabriele; Haendel, Melissa A; Mungall, Christopher J; Reese, Justin; Robinson, Peter N

COL4A5-p.Gly624Asp is the Predominant Variant in Europe Associated With a Mild Alport Syndrome Phenotype

COL4A5-p.Gly624Asp 是欧洲与轻度阿尔波特综合征表型相关的最主要变异体

Krüger, Bastian M; Jens, Annika; Neuhaus, Anna; Ćomić, Jasmina; Berutti, Riccardo; de Fallois, Jonathan; Petzold, Friederike; Münch, Johannes; Kowald, Jan; Lindner, Tom H; Budde, Klemens; Brüning, Klara K; Thumfart, Julia; Haas, Jacob; Brigl, Carolin B; Amann, Kerstin; Tasic, Velibor; Abazi-Emini, Nora; Nushi-Stavileci, Valbona; Putnik, Jovana; Stajić, Nataša; Seelow, Evelyn; Hammett, Charlotte; Eckardt, Kai-Uwe; Riedhammer, Korbinian M; Schrezenmeier, Eva V; Hoefele, Julia; Halbritter, Jan

Donor-derived cell-free DNA monitoring for early diagnosis of antibody-mediated rejection after kidney transplantation: a randomized trial

利用供体来源的游离DNA监测早期诊断肾移植后抗体介导的排斥反应:一项随机试验

Akifova, Aylin; Budde, Klemens; Amann, Kerstin; Buettner-Herold, Maike; Choi, Mira; Oellerich, Michael; Beck, Julia; Bornemann-Kolatzki, Kirsten; Schütz, Ekkehard; Bachmann, Friederike; Halleck, Fabian; von Hoerschelmann, Ellen; Koch, Nadine; Schrezenmeier, Eva; Seelow, Evelyn; Waiser, Johannes; Zukunft, Bianca; Eckardt, Kai-Uwe; Halbritter, Jan; Kettritz, Ralph; Del Moral, Covadonga López; Lachmann, Nils; Stauch, Diana; Niemann, Matthias; Schmidt, Danilo; Halloran, Philip F; Osmanodja, Bilgin

Association of Blood Donor-derived Cell-free DNA Levels With Banff Scores and Histopathological Lesions in Kidney Allograft Biopsies: Results From an Observational Study

血液供体来源的游离DNA水平与肾移植活检中Banff评分和组织病理学病变的相关性:一项观察性研究的结果

Akifova, Aylin; Budde, Klemens; Choi, Mira; Amann, Kerstin; Buettner-Herold, Maike; Oellerich, Michael; Beck, Julia; Bornemann-Kolatzki, Kirsten; Schütz, Ekkehard; Bachmann, Friederike; Halleck, Fabian; Schrezenmeier, Eva V; Seelow, Evelyn; Zukunft, Bianca; Hammett, Charlotte; Pohl, Nathan A; Mordà, Benedetta; Kowald, Jan; Lachmann, Nils; Stauch, Diana; Osmanodja, Bilgin

Consistent Performance of GPT-4o in Rare Disease Diagnosis Across Nine Languages and 4967 Cases

GPT-4o 在九种语言和 4967 例罕见病诊断中表现稳定

Chimirri, Leonardo; Caufield, J Harry; Bridges, Yasemin; Matentzoglu, Nicolas; Gargano, Michael; Cazalla, Mario; Chen, Shihan; Danis, Daniel; Dingemans, Alexander Jm; Gehle, Petra; Graefe, Adam S L; Gu, Weihong; Ladewig, Markus S; Lapunzina, Pablo; Nevado, Julián; Niyonkuru, Enock; Ogishima, Soichi; Seelow, Dominik; Castaño, Jair A Tenorio; Turnovec, Marek; de Vries, Bert Ba; Wang, Kai; Wissink, Kyran; Yüksel, Zafer; Zucca, Gabriele; Haendel, Melissa A; Mungall, Christopher J; Reese, Justin; Robinson, Peter N

Drawing human pedigree charts with DrawPed

使用 DrawPed 绘制人类谱系图

Schönberger, Janina; Steinhaus, Robin; Seelow, Dominik

REEV: review, evaluate and explain variants

REEV:审查、评估和解释变异

Hramyka, Dzmitry; Sczakiel, Henrike Lisa; Zhao, Max Xiaohang; Stolpe, Oliver; Nieminen, Mikko; Adam, Ronja; Danyel, Magdalena; Einicke, Lara; Hägerling, René; Knaus, Alexej; Mundlos, Stefan; Schwartzmann, Sarina; Seelow, Dominik; Ehmke, Nadja; Mensah, Martin Atta; Boschann, Felix; Beule, Dieter; Holtgrewe, Manuel

The Human Phenotype Ontology in 2024: phenotypes around the world

2024 年人类表型本体论:世界各地的表型

Gargano, Michael A; Matentzoglu, Nicolas; Coleman, Ben; Addo-Lartey, Eunice B; Anagnostopoulos, Anna V; Anderton, Joel; Avillach, Paul; Bagley, Anita M; Bakštein, Eduard; Balhoff, James P; Baynam, Gareth; Bello, Susan M; Berk, Michael; Bertram, Holli; Bishop, Somer; Blau, Hannah; Bodenstein, David F; Botas, Pablo; Boztug, Kaan; Čady, Jolana; Callahan, Tiffany J; Cameron, Rhiannon; Carbon, Seth J; Castellanos, Francisco; Caufield, J Harry; Chan, Lauren E; Chute, Christopher G; Cruz-Rojo, Jaime; Dahan-Oliel, Noémi; Davids, Jon R; de Dieuleveult, Maud; de Souza, Vinicius; de Vries, Bert B A; de Vries, Esther; DePaulo, J Raymond; Derfalvi, Beata; Dhombres, Ferdinand; Diaz-Byrd, Claudia; Dingemans, Alexander J M; Donadille, Bruno; Duyzend, Michael; Elfeky, Reem; Essaid, Shahim; Fabrizzi, Carolina; Fico, Giovanna; Firth, Helen V; Freudenberg-Hua, Yun; Fullerton, Janice M; Gabriel, Davera L; Gilmour, Kimberly; Giordano, Jessica; Goes, Fernando S; Moses, Rachel Gore; Green, Ian; Griese, Matthias; Groza, Tudor; Gu, Weihong; Guthrie, Julia; Gyori, Benjamin; Hamosh, Ada; Hanauer, Marc; Hanušová, Kateřina; He, Yongqun Oliver; Hegde, Harshad; Helbig, Ingo; Holasová, Kateřina; Hoyt, Charles Tapley; Huang, Shangzhi; Hurwitz, Eric; Jacobsen, Julius O B; Jiang, Xiaofeng; Joseph, Lisa; Keramatian, Kamyar; King, Bryan; Knoflach, Katrin; Koolen, David A; Kraus, Megan L; Kroll, Carlo; Kusters, Maaike; Ladewig, Markus S; Lagorce, David; Lai, Meng-Chuan; Lapunzina, Pablo; Laraway, Bryan; Lewis-Smith, David; Li, Xiarong; Lucano, Caterina; Majd, Marzieh; Marazita, Mary L; Martinez-Glez, Victor; McHenry, Toby H; McInnis, Melvin G; McMurry, Julie A; Mihulová, Michaela; Millett, Caitlin E; Mitchell, Philip B; Moslerová, Veronika; Narutomi, Kenji; Nematollahi, Shahrzad; Nevado, Julian; Nierenberg, Andrew A; Čajbiková, Nikola Novák; Nurnberger, John I Jr; Ogishima, Soichi; Olson, Daniel; Ortiz, Abigail; Pachajoa, Harry; Perez de Nanclares, Guiomar; Peters, Amy; Putman, Tim; Rapp, Christina K; Rath, Ana; Reese, Justin; Rekerle, Lauren; Roberts, Angharad M; Roy, Suzy; Sanders, Stephan J; Schuetz, Catharina; Schulte, Eva C; Schulze, Thomas G; Schwarz, Martin; Scott, Katie; Seelow, Dominik; Seitz, Berthold; Shen, Yiping; Similuk, Morgan N; Simon, Eric S; Singh, Balwinder; Smedley, Damian; Smith, Cynthia L; Smolinsky, Jake T; Sperry, Sarah; Stafford, Elizabeth; Stefancsik, Ray; Steinhaus, Robin; Strawbridge, Rebecca; Sundaramurthi, Jagadish Chandrabose; Talapova, Polina; Tenorio Castano, Jair A; Tesner, Pavel; Thomas, Rhys H; Thurm, Audrey; Turnovec, Marek; van Gijn, Marielle E; Vasilevsky, Nicole A; Vlčková, Markéta; Walden, Anita; Wang, Kai; Wapner, Ron; Ware, James S; Wiafe, Addo A; Wiafe, Samuel A; Wiggins, Lisa D; Williams, Andrew E; Wu, Chen; Wyrwoll, Margot J; Xiong, Hui; Yalin, Nefize; Yamamoto, Yasunori; Yatham, Lakshmi N; Yocum, Anastasia K; Young, Allan H; Yüksel, Zafer; Zandi, Peter P; Zankl, Andreas; Zarante, Ignacio; Zvolský, Miroslav; Toro, Sabrina; Carmody, Leigh C; Harris, Nomi L; Munoz-Torres, Monica C; Danis, Daniel; Mungall, Christopher J; Köhler, Sebastian; Haendel, Melissa A; Robinson, Peter N