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Papers共 121 篇Author StatisticsCo-AuthorSimilar Experts

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Publisher Correction: 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, Solve-RD DITF-GENTURIS, Solve-RD DITF-ITHACA, Solve-RD DITF-EURO-NMD, Solve-RD DITF-RND, Solve-RD consortium, 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 medicine (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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Clinical Genome Sequencing in Patients with Hereditary Breast and Ovarian Cancer: Concept, Implementation and Benefits
Dennis Witt,Marc Sturm, Antje Stäbler, Benita Menden, Lisa Ruisinger, Kristin Bosse,Ines Gruber,Andreas Hartkopf, Silja Gauß, German Demidov,Nicolas Casadei, Elena Buena Atienza, Kira Mehnert, Janna Witt,Caspar Gross, Leon Schütz,Christopher Schroeder,Stephan Ossowski,Andreas Dufke,Tobias B Haack,Olaf Riess, Ulrike Faust
Breast (Edinburgh, Scotland) (2025): 104505-104505
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Long-Read Sequencing Identifies Mosaic Sequence Variations in Friedreich’s Ataxia-GAA Repeats
Joohyun Park,Claudia Dufke, Zofia Fleszar, Michael Schlotterbek, Elena Buena-Atienza, Lara G Stühn,Caspar Gross,Marc Sturm,Stephan Ossowski,Ludger Schöls,Olaf Riess,Tobias B Haack
International journal of molecular sciencesno. 11 (2025)
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Author Statistics

#Papers: 120

#Citation: 4678

H-Index: 28

G-Index: 68

Sociability: 7

Diversity: 3

Activity: 27

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