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Papers共 47 篇Author StatisticsCo-AuthorSimilar Experts

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Combined Genomics and Proteomics Unveils Elusive Variants and Vast Aetiologic Heterogeneity in Dystonia
Michael Zech,Ivana Dzinovic,Matej Skorvanek,Philip Harrer,Jan Necpal,Robert Kopajtich,Volker Kittke,Erik Tilch, Chen Zhao,Eugenia Tsoma, Ugo Sorrentino,Elisabetta Indelicato, Antonia Stehr, Alice Saparov,Lucia Abela,Miriam Adamovicova,Alexandra Afenjar,Birgit Assmann,Janette Baloghova, Matthias Baumann,Riccardo Berutti, Zuzana Brezna,Melanie Brugger,Theresa Brunet,Benjamin Cogne,Isabel Colangelo,Erin Conboy, Felix Distelmaier,Matthias Eckenweiler,Barbara Garavaglia,Arie Geerlof,Elisabeth Graf,Annette Hackenberg, Denisa Harvanova,Bernhard Haslinger,Petra Havrankova,Georg F Hoffmann,Wibke G Janzarik,Boris Keren,Miriam Kolnikova,Konstantinos Kolokotronis, Zuzana Kosutzka,Anne Koy,Martin Krenn,Magdalena Krygier, Katarina Kusikova, Oliver Maier,Thomas Meitinger,Christian Mertes,Ivan Milenkovic,Edoardo Monfrini, Andre Santos Dias Mourao,Thomas Musacchio,Mathilde Nizon,Miriam Ostrozovicova, Martin Pavlov,Iva Prihodova,Irena Rektorova,Luigi M Romito, Barbora Rybanska,Ariane Sadr-Nabavi, Susanne Schwenger,Ali Shoeibi,Alexandra Sitzberger,Dmitrii Smirnov,Jana Svantnerova, Raushana Tautanova,Sandra P Toelle,Olga Ulmanova,Francesco Vetrini,Katharina Vill, Matias Wagner,David Weise,Giovanna Zorzi,Alessio Di Fonzo,Konrad Oexle, Steffen Berweck,Volker Mall,Sylvia Boesch,Barbara Schormair,Holger Prokisch,Robert Jech,Juliane Winkelmann
Brain a journal of neurology (2025)
Cited0Views0WOSBibtex
0
0
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
Exome Sequencing of 20,979 Individuals with Epilepsy Reveals Shared and Distinct Ultra-Rare Genetic Risk Across Disorder Subtypes
Siwei Chen,Bassel W. Abou-Khalil,Zaid Afawi,Quratulain Zulfiqar Ali,Elisabetta Amadori, Alison Anderson, Joe Anderson,Danielle M. Andrade,Grazia Annesi,Mutluay Arslan,Pauls Auce,Melanie Bahlo, Mark D. Baker,Ganna Balagura,Simona Balestrini,Eric Banks,Carmen Barba, Karen Barboza,Fabrice Bartolomei,Nick Bass,Larry W. Baum, Tobias H. Baumgartner,Betuel Baykan,Nerses Bebek, Felicitas Becker,Caitlin A. Bennett, Ahmad Beydoun,Claudia Bianchini,Francesca Bisulli,Douglas Blackwood,Ilan Blatt,Ingo Borggraefe,Christian Bosselmann,Vera Braatz,Harrison Brand, Knut Brockmann,Russell J. Buono,Robyn M. Busch,S. Hande Caglayan,Laura Canafoglia,Christina Canavati,Barbara Castellotti,Gianpiero L. Cavalleri,Felecia Cerrato,Francine Chassoux,Christina Cherian, Stacey S. Cherny,Ching-Lung Cheung,I-Jun Chou,Seo-Kyung Chung,Claire Churchhouse,Valentina Ciullo,Peggy O. Clark, Andrew J. Cole,Mahgenn Cosico,Patrick Cossette,Chris Cotsapas,Caroline Cusick,Mark J. Daly,Lea K. Davis, Peter De Jonghe,Norman Delanty,Dieter Dennig,Chantal Depondt, Philippe Derambure,Orrin Devinsky,Lidia Di Vito,Faith Dickerson,Dennis J. Dlugos,Viola Doccini,Colin P. Doherty,Hany El-Naggar, Colin A. Ellis,Leon Epstein, Meghan Evans,Annika Faucon,Yen-Chen Anne Feng,Lisa Ferguson, Thomas N. Ferraro, Izabela Ferreira Da Silva,Lorenzo Ferri, Martha Feucht,Madeline C. Fields,Mark Fitzgerald,Beata Fonferko-Shadrach,Francesco Fortunato, Silvana Franceschetti, Jacqueline A. French,Elena Freri,Jack M. Fu,Stacey Gabriel,Monica Gagliardi,Antonio Gambardella,Laura Gauthier,Tania Giangregorio,Tommaso Gili, Tracy A. Glauser,Ethan Goldberg,Alica Goldman,David B. Goldstein,Tiziana Granata,Riley Grant, David A. Greenberg,Renzo Guerrini,Asli Gundogdu-Eken,Namrata Gupta,Kevin Haas,Hakon Hakonarson,Garen Haryanyan,Martin Haeusler,Manu Hegde,Erin L. Heinzen,Ingo Helbig,Christian Hengsbach,Henrike Heyne, Shinichi Hirose,Edouard Hirsch,Chen-Jui Ho, Olivia Hoeper,Daniel P. Howrigan,Donald Hucks, Po-Chen Hung,Michele Iacomino, Yushi Inoue,Luciana Midori Inuzuka, Atsushi Ishii, Lara Jehi, Michael R. Johnson,Mandy Johnstone,Reetta Kalviainen,Moien Kanaan,Bulent Kara,Symon M. Kariuki,Josua Kegele,Yesim Kesim,Nathalie Khoueiry-Zgheib,Jean Khoury,Chontelle King,Karl Martin Klein, Gerhard Kluger,Susanne Knake, Fernando Kok, Amos D. Korczyn,Rudolf Korinthenberg,Andreas Koupparis,Ioanna Kousiappa,Roland Krause,Martin Krenn,Heinz Krestel,Ilona Krey, Wolfram S. Kunz,Gerhard Kurlemann,Ruben I. Kuzniecky,Patrick Kwan,Maite La Vega-Talbott,Angelo Labate,Austin Lacey,Dennis Lal,Petra Lassuthova,Stephan Lauxmann,Charlotte Lawthom, Stephanie L. Leech,Anna-Elina Lehesjoki,Johannes R. Lemke,Holger Lerche,Gaetan Lesca,Costin Leu,Naomi Lewin,David Lewis-Smith,Gloria Hoi-Yee Li,Calwing Liao,Laura Licchetta,Chih-Hsiang Lin, Lin,Tarja Linnankivi, Warren Lo,Daniel H. Lowenstein,Chelsea Lowther,Laura Lubbers,Colin H. T. Lui,Lucia Ines Macedo-Souza,Rene Madeleyn,Francesca Madia,Stefania Magri,Louis Maillard,Lara Marcuse,Paula Marques,Anthony G. Marson,Abigail G. Matthews,Patrick May,Thomas Mayer,Wendy McArdle, Steven M. McCarroll,Patricia McGoldrick,Christopher M. McGraw,Andrew McIntosh, Andrew McQuillan,Kimford J. Meador,Davide Mei, Veronique Michel, John J. Millichap,Raffaella Minardi,Martino Montomoli,Barbara Mostacci,Lorenzo Muccioli, Hiltrud Muhle,Karen Mueller-Schlueter,Imad M. Najm,Wassim Nasreddine,Samuel Neaves, Bernd A. Neubauer,Charles R. J. C. Newton, Jeffrey L. Noebels, Kate Northstone,Sam Novod, Terence J. O'Brien, Seth Owusu-Agyei, Cigdem Ozkara, Aarno Palotie,Savvas S. Papacostas,Elena Parrini,Carlos Pato,Michele Pato,Manuela Pendziwiat, Page B. Pennell,Slave Petrovski,William O. Pickrell,Rebecca Pinsky, Dalila Pinto,Tommaso Pippucci,Fabrizio Piras,Federica Piras, Annapurna Poduri,Federica Pondrelli,Danielle Posthuma, Robert H. W. Powell,Michael Privitera,Annika Rademacher,Francesca Ragona, Byron Ramirez-Hamouz,Sarah Rau, Hillary R. Raynes,Mark I. Rees,Brigid M. Regan,Andreas Reif,Eva Reinthaler, Sylvain Rheims,Susan M. Ring,Antonella Riva, Enrique Rojas,Felix Rosenow,Philippe Ryvlin,Anni Saarela,Lynette G. Sadleir,Baris Salman,Andrea Salmon, Vincenzo Salpietro,Ilaria Sammarra, Marcello Scala,Steven Schachter, Andre Schaller,Christoph J. Schankin,Ingrid E. Scheffer,Natascha Schneider, Susanne Schubert-Bast, Andreas Schulze-Bonhage,Paolo Scudieri,Lucie Sedlackova,Catherine Shain, Pak C. Sham,Beth R. Shiedley, S. Anthony Siena,Graeme J. Sills,Sanjay M. Sisodiya, Jordan W. Smoller,Matthew Solomonson,Gianfranco Spalletta, Kathryn R. Sparks,Michael R. Sperling,Hannah Stamberger, Bernhard J. Steinhoff, Ulrich Stephani,Katalin Sterbova, William C. Stewart,Carlotta Stipa,Pasquale Striano,Adam Strzelczyk,Rainer Surges, Toshimitsu Suzuki,Mariagrazia Talarico,Michael E. Talkowski, Randip S. Taneja,George A. Tanteles, Oskari Timonen,Nicholas John Timpson,Paolo Tinuper,Marian Todaro,Pinar Topaloglu,Meng-Han Tsai,Birute Tumiene,Dilsad Turkdogan,Sibel Ugur-Iseri, Algirdas Utkus,Priya Vaidiswaran,Luc Valton,Andreas van Baalen,Maria Stella Vari,Annalisa Vetro,Marketa Vlckova,Sophie von Brauchitsch,Sarah von Spiczak, Ryan G. Wagner,Nick Watts, Yvonne G. Weber,Sarah Weckhuysen,Peter Widdess-Walsh,Samuel Wiebe,Steven M. Wolf, Markus Wolff,Stefan Wolking,Isaac Wong,Randi von Wrede, David Wu, Kazuhiro Yamakawa,Zuhal Yapici,Uluc Yis, Robert Yolken,Emrah Yucesan,Sara Zagaglia,Felix Zahnert,Federico Zara, Fritz Zimprich, Milena Zizovic,Gabor Zsurka,Benjamin M. Neale,Samuel F. Berkovic
NATURE NEUROSCIENCE（2024）
Cited6Views0WOSBibtex
6
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）
Cited9Views0Bibtex
9
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Author Statistics

#Papers: 47

#Citation: 919

H-Index: 14

G-Index: 29

Sociability: 7

Diversity: 3

Activity: 24

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