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

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

Normal Values for the fT3/fT4 Ratio: Centile Charts (0-29 Years) and Their Application for the Differential Diagnosis of Children with Developmental Delay

游离T3/游离T4比值的正常值:百分位图(0-29岁)及其在发育迟缓儿童鉴别诊断中的应用

Wilpert, Nina-Maria; Thamm, Roma; Thamm, Michael; Kratzsch, Jürgen; Seelow, Dominik; Vogel, Mandy; Krude, Heiko; Schuelke, Markus

Alternative splicing is coupled to gene expression in a subset of variably expressed genes

可变剪接与一部分表达可变的基因的基因表达相关。

Karlebach, Guy; Steinhaus, Robin; Danis, Daniel; Devoucoux, Maeva; Anczuków, Olga; Sheynkman, Gloria; Seelow, Dominik; Robinson, Peter N

NFS-03. MEDULLOBLASTOMA IN CHILDREN WITH FANCONI ANEMIA: ASSOCIATION WITH FA-D1/FA-N, SHH TYPE AND POOR SURVIVAL INDEPENDENT OF TREATMENT STRATEGIES

NFS-03. 范可尼贫血患儿髓母细胞瘤:与 FA-D1/FA-N、SHH 型及与治疗策略无关的低生存率相关

Chukwu, Wolu; Lee, Siyun; Crane, Alexander; Zhang, Shu; Webster, Sophie; Mittra, Ipsa; Imielinski, Marcin; Beroukhim, Rameen; Dubois, Frank; Dalin, Simona; Seelow, Dominik; Öz, Elif; Hardt, Annika; Kortmann, Rolf-Dieter; Schwarz, Rudolf; Timmermann, Beate; Bison, Brigitte; Warmuth-Metz, Monika; von Hoff, Katja; von Bueren, André O; Gerber, Nicolas U; Fleischhack, Gudrun; Pietsch, Torsten; Pfister, Stefan M; Sturm, Dominik; Mynarek, Martin; Rutkowski, Stefan; Obrecht-Sturm, Denise; Faria Andrade*, Augusto; Sigaud*, Romain; Puligandla*, Evan; Liu, Bridget; Karimi, Elham; Schmid, Simone; Selt, Florian; Driever, Pablo Hernáiz; Koch, Arend; Sahm, Felix; Sievers, Philipp; Pfister, Stefan M; Witt, Olaf; Jones, David T W; Capper, David; Walsh*, Logan; Jabado*, Nada; Milde*, Till; Ghasemi, David R; von Hoff, Katja; Obrecht-Sturm, Denise; Wenning, Janna; Mynarek, Martin; Gerber, Nicolas U; Benesch, Martin; Juhnke, Björn O; Bison, Brigitte; Warmuth-Metz, Monika; Timmermann, Beate; Faldum, Andreas; Fleischhack, Gudrun; Grotzer, Michael; Driever, Pablo Hernáiz; Beilken, Andreas; Ebinger, Martin; Graf, Norbert; Frühwald, Michael; Schmid, Irene; Koch, Arend; Bergmann, Markus; Hagel, Christian; Coras, Roland; Blümcke, Ingmar; Reifenberger, Guido; Felsberg, Jörg; Keyvani, Kathy; Harter, Patrick N; Prinz, Marco; Staszewski, Ori; Acker, Till; Brück, Wolfgang; Hartmann, Christian; von Deimling, Andreas; Sommer, Clemens; Hasselblatt, Martin; Riemenschneider, Markus J; Monoranu, Camelia-Maria; Rushing, Elisabeth; Kool, Marcel; Pfister, Stefan M; Schüller, Ulrich; Pietsch, Torsten; Kortmann, Rolf D; Kwiecien, Robert; Witt, Hendrik; Pajtler, Kristian W; Rutkowski, Stefan; Fruehwald, Michael C; Boros, Matej; Dahlum, Sonja; Bens, Susanne; Johann, Pascal D; Kachanov, Denis; Hauser, Peter; Kratz, Christian P; Hernaiz-Driever, Pablo; Eyrich, Matthias; Sumerauer, David; Milde, Till; Reinhard, Harald; van de Wetering, Marianne; Gil-da-Costa, Maria Joao; Elisabetta, Schiavello; Kerl, Kornelius; Furtwaengler, Rhoikos; Kordes, Uwe; Gerss, Joachim; Hasselblatt, Martin; Nysom, Karsten; Nemes, Karolina; Kline, Cassie; Waanders, Angela J; Ziegler, David S; Kilburn, Lindsay B; Nysom, Karsten; van der Lugt, Jasper; Hassall, Timothy E; Gerber, Nicolas U; Segal, Devorah; Larouche, Valérie; Khuong-Quang, Dong-Anh; Hansford, Jordan R; Leary, Sarah E S; Driever, Pablo Hernáiz; Bailey, Simon; Perreault, Sébastien; McCowage, Geoffrey; Witt, Olaf; Baxter, Patricia A; Kang, Hyoung Jin; Han, Jung Woo; Hargrave, Darren; Franson, Andrea T; Oren, Michal Yalon; Toledano, Helen; Abdelbaki, Mohamed S; Jabado, Nada; Gottardo, Nicholas G; Whipple, Nicholas S; Chi, Susan N; Oren, Liat; Tan, Enrica E K; Mueller, Sabine; Wright, Karen D; Blackman, Samuel C; Qiu, Jiaheng; Podesta, Dolores; Walter, Ashley; Da Costa, Daniel; Manley, Peter; McLeod, Lisa; Landi, Daniel B; Geisemeyer, Neal; Federico, Aniello; Sill, Martin; Rosenblum, Marc; Bale, Tejus; Mauermann, Monika; Schrimpf, Daniel; Johann, Pascal; Pickles, Jessica; Aldape, Kenneth; Tauziède-Espariat, Arnault; Hasselblatt, Martin; Sturm, Dominik; Tietze, Anna; von Deimling, Andreas; Sievers, Philipp; Sahm, Felix; Gojo, Johannes; von Hoff, Katja; Pfister, Stefan M; Kool, Marcel; Keck, Michaela-Kristina; Tietze, Anna; Sievers, Philipp; Bison, Brigitte; Avula, Shivaram; Brandner, Sebastian; Cheesman, Edmund; Faure-Conter, Cécile; Fenouil, Tanguy; Figarella-Branger, Dominique; Gauchotte, Guillaume; Goebell, Einar; Gojo, Johannes; Haberler, Christine; Hakumäki, Juhana; Hayden, James T; Jabado, Nada; Korhonen, Laura S; Korshunov, Andrey; Koscielniak, Ewa; Kramm, Christof M; Kranendonk, Mariëtte E G; Lavarino, Cinzia; Lequin, Maarten; Loiseau, Hugues; Ludlow, Louise E; Maher, Ossama; Meyronet, David; Nyman, Per; Øra, Ingrid; Perwein, Thomas; Pesola, Jouni; Rauramaa, Tuomas; Reddingius, Roel; Samuel, David; Schouten-van Meeteren, Antoinette Y N; Schüller, Ulrich; Sexton-Oates, Alexandra; Solomon, David; Varlet, Pascale; Vasiljevic, Alexandre; von Kalle, Thekla; Wefers, Annika K; Wesseling, Pieter; White, Christine; Zamecnik, Josef; Zapotocky, Michal; von Hoff*, Katja; Jones*, David T W; Stepien, Natalia; Senfter, Daniel; Freund, Julia; Machreich, Sarah; Bruckner, Katharina; Mager, Leah; Laemmerer, Anna; Jaunecker, Carola; Pirker, Christine; Lötsch-Gojo, Daniela; Mayr, Lisa; Hedrich, Cora; Lippolis, Maria Aliotti; Schned, Hannah; Köller, Clara; Kiesel, Barbara; Dorfer, Christian; Azizi, Amedeo A; Peyrl, Andreas; Schmook, Maria T; Euskirchen, Philipp; Pagès-Gallego, Marc; Vermeulen, Carlo; Tops, Bastiaan; Haberler, Christine; Müllauer, Leonhard; Madlener, Sibylle; Gojo, Johannes; Schned, Hannah; Haberler, Christine; Peyrl, Andreas; Azizi, Amedeo; Mayr, Lisa; Aistleitner, Barbara; von Hoff, Katja; Kool, Marcel; Kjaersgaard, Mimi; Trkova, Katerina; Andre, Nicolas; Lippolis, Maria Aliotti; Hedrich, Cora; Köller, Clara; Stepien, Natalia; Slavc, Irene; Gojo, Johannes; Traunwieser, Thomas; Loos, Elena; Ottensmeier, Holger; Mynarek, Martin; Bison, Brigitte; Kandels, Daniela; Rossius, Anne; Lüttich, Peggy; Baust, Katja; Faulstich-Ritter, Kristin; John, Rainer; Kreisch, Andrea; Landmann, Judyta; Manteufel, Eva; Nest, Alexandra; Prüfe, Jenny; Schubert, Lisa; Stamm, Walther; Timmermann, Beate; Gerss, Joachim; Rutkowski, Stefan; Schlegel, Paul-Gerhardt; Eyrich, Matthias; Gnekow, Astrid K; Frühwald, Michael C; Sönksen, Marthe; Obrecht-Sturm, Denise; Driever, Pablo Hernáiz; Sauerbrey, Axel; Graf, Norbert; Kontny, Udo; Reimann, Christian; Kordes, Uwe; Schwarz, Rudolf; Obser, Tobias; Boschann, Felix; Schüller, Ulrich; Altendorf, Lea; Goschzik, Tobias; Pietsch, Torsten; Mynarek, Martin; Rutkowski, Stefan