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Papers共 52 篇Author StatisticsCo-AuthorSimilar Experts

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Consistent Performance of GPT-4o in Rare Disease Diagnosis Across Nine Languages and 4967 Cases
Leonardo Chimirri,J Harry Caufield,Yasemin Bridges,Nicolas Matentzoglu, Michael Gargano, Mario Cazalla, Shihan Chen,Daniel Danis, Alexander Jm Dingemans, Petra Gehle, Adam S L Graefe,Weihong Gu,Markus S Ladewig,Pablo Lapunzina,Julián Nevado, Enock Niyonkuru,Soichi Ogishima,Dominik Seelow, Jair A Tenorio Castaño,Marek Turnovec, Bert Ba de Vries,Kai Wang, Kyran Wissink, Zafer Yüksel, Gabriele Zucca,Melissa A Haendel,Christopher J Mungall, Justin Reese,Peter N Robinson
medRxiv the preprint server for health sciences (2025)
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Genomic Reanalysis of a Pan-European Rare-Disease Resource Yields New Diagnoses
Steven Laurie,Wouter Steyaert,Elke de Boer,Kiran Polavarapu,Nika Schuermans,Anna K. Sommer,German Demidov,Kornelia Ellwanger,Ida Paramonov,Coline Thomas,Stefan Aretz,Jonathan Baets,Elisa Benetti,Gemma Bullich,Patrick F. Chinnery,Jill Clayton-Smith,Enzo Cohen,Daniel Danis,Jean-Madeleine de Sainte Agathe,Anne-Sophie Denommé-Pichon,Jordi Diaz-Manera,Stephanie Efthymiou,Laurence Faivre,Marcos Fernandez-Callejo, Mallory Freeberg,José Garcia-Pelaez,Lena Guillot-Noel,Tobias B. Haack, Mike Hanna,Holger Hengel,Rita Horvath,Henry Houlden,Adam Jackson,Lennart Johansson,Mridul Johari,Erik-Jan Kamsteeg,Melanie Kellner,Tjitske Kleefstra,Didier Lacombe,Hanns Lochmüller,Estrella López-Martín,Alfons Macaya,Anna Marcé-Grau,Aleš Maver,Heba Morsy,Francesco Muntoni,Francesco Musacchia,Isabelle Nelson,Vincenzo Nigro,Catarina Olimpio,Carla Oliveira,Jaroslava Paulasová Schwabová,Martje G. Pauly,Borut Peterlin,Sophia Peters,Rolph Pfundt,Giulio Piluso,Davide Piscia,Manuel Posada,Selina Reich,Alessandra Renieri,Lukas Ryba,Karolis Šablauskas,Marco Savarese,Ludger Schöls,Leon Schütz,Verena Steinke-Lange,Giovanni Stevanin,Volker Straub,Marc Sturm,Morris A. Swertz,Marco Tartaglia,Iris B. A. W. te Paske,Rachel Thompson,Annalaura Torella,Christina Trainor,Bjarne Udd,Liedewei Van de Vondel,Bart van de Warrenburg,Jeroen van Reeuwijk,Jana Vandrovcova,Antonio Vitobello,Janet Vos,Emílie Vyhnálková,Robin Wijngaard,Carlo Wilke,Doreen William,Jishu Xu,Burcu Yaldiz, Luca Zalatnai,Birte Zurek,Anthony J. Brookes,Teresinha Evangelista,Christian Gilissen,Holm Graessner,Nicoline Hoogerbrugge,Stephan Ossowski,Olaf Riess,Rebecca Schüle,Matthis Synofzik,Alain Verloes,Leslie Matalonga,Han G. Brunner,Katja Lohmann,Richarda M. de Voer,Ana Töpf,Lisenka E.L.M. Vissers,Sergi Beltran,Alexander Hoischen
Nature Medicinepp.1-12, (2025)
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Linking International Registries to FHIR and Phenopackets with RareLink: a Scalable REDCap-based Framework for Rare Disease Data Interoperability
Adam S L Graefe, Filip Rehburg, Samer Alkarkoukly,Daniel Danis, Ana Grönke, Miriam R Hübner,Alexander Bartschke, Thomas Debertshäuser, Sophie A I Klopfenstein,Julian Saß, Julia Fleck, Mirko Rehberg, Jana Zschüntzsch, Elisabeth F Nyoungui,Tatiana Kalashnikova,Luis Murguía-Favela,Beata Derfalvi, Nicola A M Wright,Shahida Moosa,Soichi Ogishima, Oliver Semler, Susanna Wiegand, Peter Kühnen, Christopher J Mungall,Melissa A Haendel, Peter N Robinson,Sylvia Thun,Oya Beyan
medRxiv the preprint server for health sciences (2025)
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An Ontology-Based Rare Disease Common Data Model Harmonising International Registries, FHIR, and Phenopackets
Adam S. L. Graefe, Miriam R. Huebner, Filip Rehburg, Steffen Sander,Sophie A. I. Klopfenstein,Samer Alkarkoukly, Ana Groenke, Annic Weyersberg,Daniel Danis,Jana Zschuentzsch, Elisabeth F. Nyoungui, Susanna Wiegand, Peter Kuehnen,Peter N. Robinson,Oya Beyan,Sylvia Thun
SCIENTIFIC DATA（2025）
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GA4GH Phenopacket-Driven Characterization of Genotype-Phenotype Correlations in Mendelian Disorders
Lauren Rekerle,Daniel Danis, Filip Rehburg, Adam Sl Graefe, Viktor Bily,Andrés Caballero-Oteyza,Pilar Cacheiro, Leonardo Chimirri,Jessica X Chong, Evan Connelly, Bert Ba de Vries,Alexander Jm Dingemans,Michael H Duyzend,Tomas Freiberger, Petra Gehle,Tudor Groza, Peter Hansen,Julius O B Jacobsen,Adam Klocperk,Markus S Ladewig,Michael I Love, Allison J Marcello,Alexander Mordhorst,Monica C Munoz-Torres, Justin Reese, Catharina Schütz,Damian Smedley,Timmy Strauss, Ondrej Vladyka,David Zocche,Sylvia Thun,Christopher J Mungall,Melissa A Haendel,Peter N Robinson
medRxiv the preprint server for health sciences (2025)
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Author Statistics

#Papers: 52

#Citation: 1948

H-Index: 14

G-Index: 33

Sociability: 7

Diversity: 3

Activity: 17

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