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Papers共 33 篇Author StatisticsCo-AuthorSimilar Experts

By YearBy Citation主题筛选期刊级别筛选合作者筛选合作机构筛选
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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)
Cited0Views0WOSNATUREBibtex
0
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Next-generation Phenotyping Integrated in a National Framework for Patients with Ultrarare Disorders Improves Genetic Diagnostics and Yields New Molecular Findings
Axel Schmidt,Magdalena Danyel,Kathrin Grundmann,Theresa Brunet,Hannah Klinkhammer,Tzung-Chien Hsieh,Hartmut Engels,Sophia Peters,Alexej Knaus,Shahida Moosa,Luisa Averdunk,Felix Boschann,Henrike Lisa Sczakiel,Sarina Schwartzmann,Martin Atta Mensah,Jean Tori Pantel,Manuel Holtgrewe, Annemarie Bösch,Claudia Weiß,Natalie Weinhold, Aude-Annick Suter,Corinna Stoltenburg,Julia Neugebauer, Tillmann Kallinich,Angela M Kaindl,Susanne Holzhauer,Christoph Bührer,Philip Bufler,Uwe Kornak,Claus-Eric Ott,Markus Schülke,Hoa Huu Phuc Nguyen,Sabine Hoffjan,Corinna Grasemann,Tobias Rothoeft,Folke Brinkmann,Nora Matar,Sugirthan Sivalingam,Claudia Perne,Elisabeth Mangold,Martina Kreiss,Kirsten Cremer,Regina C Betz,Martin Mücke,Lorenz Grigull,Thomas Klockgether,Isabel Spier,André Heimbach,Tim Bender,Fabian Brand,Christiane Stieber, Alexandra Marzena Morawiec,Pantelis Karakostas,Valentin S Schäfer,Sarah Bernsen,Patrick Weydt,Sergio Castro-Gomez,Ahmad Aziz,Marcus Grobe-Einsler,Okka Kimmich,Xenia Kobeleva,Demet Önder,Hellen Lesmann,Sheetal Kumar,Pawel Tacik, Meghna Ahuja Basin,Pietro Incardona,Min Ae Lee-Kirsch,Reinhard Berner,Catharina Schuetz,Julia Körholz,Tanita Kretschmer,Nataliya Di Donato,Evelin Schröck,André Heinen,Ulrike Reuner, Amalia-Mihaela Hanßke,Frank J Kaiser,Eva Manka,Martin Munteanu,Alma Kuechler,Kiewert Cordula,Raphael Hirtz,Elena Schlapakow,Christian Schlein,Jasmin Lisfeld,Christian Kubisch,Theresia Herget,Maja Hempel,Christina Weiler-Normann,Kurt Ullrich,Christoph Schramm,Cornelia Rudolph,Franziska Rillig, Maximilian Groffmann,Ania Muntau, Alexandra Tibelius,Eva M C Schwaibold,Christian P Schaaf,Michal Zawada,Lilian Kaufmann,Katrin Hinderhofer, Pamela M Okun,Urania Kotzaeridou,Georg F Hoffmann,Daniela Choukair,Markus Bettendorf,Malte Spielmann,Annekatrin Ripke,Martje Pauly,Alexander Münchau,Katja Lohmann,Irina Hüning,Britta Hanker,Tobias Bäumer,Rebecca Herzog,Yorck Hellenbroich,Dominik S Westphal,Tim Strom,Reka Kovacs,Korbinian M Riedhammer,Katharina Mayerhanser,Elisabeth Graf,Melanie Brugger,Julia Hoefele,Konrad Oexle,Nazanin Mirza-Schreiber,Riccardo Berutti,Ulrich Schatz,Martin Krenn,Christine Makowski,Heike Weigand,Sebastian Schröder,Meino Rohlfs,Katharina Vill,Fabian Hauck,Ingo Borggraefe,Wolfgang Müller-Felber,Ingo Kurth,Miriam Elbracht,Cordula Knopp,Matthias Begemann,Florian Kraft,Johannes R Lemke,Julia Hentschel,Konrad Platzer,Vincent Strehlow,Rami Abou Jamra,Martin Kehrer,German Demidov,Stefanie Beck-Wödl,Holm Graessner,Marc Sturm,Lena Zeltner, Ludger J Schöls,Janine Magg,Andrea Bevot,Christiane Kehrer,Nadja Kaiser,Ernest Turro,Denise Horn,Annette Grüters-Kieslich,Christoph Klein,Stefan Mundlos,Markus Nöthen,Olaf Riess,Thomas Meitinger,Heiko Krude,Peter M Krawitz,Tobias Haack,Nadja Ehmke,Matias Wagner
Nature Geneticsno. 8 (2024): 1644-1653
Cited1Views0WOSNATUREBibtex
1
0
Next-generation Phenotyping Integrated in a National Framework for Patients with Ultra-Rare Disorders Improves Genetic Diagnostics and Yields New Molecular Findings
Axel Schmidt,Magdalena Danyel,Kathrin Grundmann,Theresa Brunet,Hannah Klinkhammer,Tzung-Chien Hsieh,Hartmut Engels,Sophia Peters,Alexej Knaus,Shahida Moosa,Luisa Averdunk,Felix Boschann,Henrike Sczakiel,Sarina Schwartzmann,Martin Atta Mensah,Jean Tori Pantel,Manuel Holtgrewe, Annemarie Bösch,Claudia Weiß,Natalie Weinhold, Aude-Annick Suter,Corinna Stoltenburg,Julia Neugebauer, Tillmann Kallinich,Angela M. Kaindl,Susanne Holzhauer,Christoph Bührer,Philip Bufler,Uwe Kornak,Claus-Eric Ott,Markus Schülke,Hoa Huu Phuc Nguyen,Sabine Hoffjan,Corinna Grasemann,Tobias Rothoeft,Folke Brinkmann,Nora Matar,Sugirthan Sivalingam,Claudia Perne,Elisabeth Mangold,Martina Kreiss,Kirsten Cremer,Regina C. Betz,Tim Bender,Martin Mücke,Lorenz Grigull,Thomas Klockgether,Spier Isabel,Heimbach André,Bender Tim,Fabian Brand,Christiane Stieber, Alexandra Marzena Morawiec,Pantelis Karakostas,Valentin S. Schäfer,Sarah Bernsen,Patrick Weydt,Sergio Castro-Gomez,Ahmad Aziz,Marcus Grobe-Einsler,Okka Kimmich,Xenia Kobeleva,Demet Önder,Hellen Lesmann,Sheetal Kumar,Pawel Tacik,Min Ae Lee-Kirsch,Reinhard Berner,Catharina Schuetz,Julia Körholz,Tanita Kretschmer,Nataliya Di Donato,Evelin Schröck,André Heinen,Ulrike Reuner, Amalia-Mihaela Hanßke,Frank J. Kaiser,Eva Manka,Martin Munteanu,Alma Kuechler,Kiewert Cordula,Raphael Hirtz,Elena Schlapakow,Christian Schlein,Jasmin Lisfeld,Christian Kubisch,Theresia Herget,Maja Hempel,Christina Weiler-Normann,Kurt Ullrich,Christoph Schramm,Cornelia Rudolph,Franziska Rillig, Maximilian Groffmann,Ania Muntau, Alexandra Tibelius,Eva M. C. Schwaibold,Christian P. Schaaf,Michal Zawada,Lilian Kaufmann,Katrin Hinderhofer, Pamela M. Okun,Urania Kotzaeridou,Georg F. Hoffmann,Daniela Choukair,Markus Bettendorf,Malte Spielmann,Annekatrin Ripke,Martje Pauly,Alexander Münchau,Katja Lohmann,Irina Hüning,Britta Hanker,Tobias Bäumer,Rebecca Herzog,Yorck Hellenbroich,Dominik S. Westphal,Tim Strom,Reka Kovacs,Korbinian M. Riedhammer,Katharina Mayerhanser,Elisabeth Graf,Melanie Brugger,Julia Hoefele,Konrad Oexle,Nazanin Mirza-Schreiber,Riccardo Berutti,Ulrich Schatz,Martin Krenn,Christine Makowski,Heike Weigand,Sebastian Schröder,Meino Rohlfs,Vill Katharina,Fabian Hauck,Ingo Borggraefe,Wolfgang Müller-Felber,Ingo Kurth,Miriam Elbracht,Cordula Knopp,Matthias Begemann,Florian Kraft,Johannes R. Lemke,Julia Hentschel,Konrad Platzer,Vincent Strehlow,Rami Abou Jamra,Martin Kehrer,German Demidov,Stefanie Beck-Wödl,Holm Graessner,Marc Sturm,Lena Zeltner, Ludger J. Schöls,Janine Magg,Andrea Bevot,Christiane Kehrer,Nadja Kaiser,Denise Horn,Annette Grüters-Kieslich,Christoph Klein,Stefan Mundlos,Markus Nöthen,Olaf Riess,Thomas Meitinger,Heiko Krude,Peter M. Krawitz,Tobias Haack,Nadja Ehmke,Matias Wagner
openalex（2023）
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Author Statistics

#Papers: 33

#Citation: 636

H-Index: 9

G-Index: 22

Sociability: 6

Diversity: 2

Activity: 10

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