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论文共 54 篇作者统计合作学者相似作者

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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
引用0浏览0WOSNATURE引用
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Whole Exome Sequencing Identifies a Heterozygous TRPC3 Missense Variant in a Patient with Adult Onset Spinocerebellar Ataxia
Tim Bender, Axel Schmidt,Kirsten Cremer,Claudia Perne,Hartmut Engels,Stefanie Heilmann-Heimbach, Pietro Incardona, Sophia Peters
EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 198-199
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Case Report of a Hemizygous Intragenic Deletion of WDR13-Further Evidence for the Role of WDR13 in X-linked Intellectual Disability
Kirsten Cremer, Tim Bender,Hartmut Engels,Stefanie Heilmann-Heimbach, Hela Hundertmark, Pietro Incardona,Claudia Perne, Axel Schmidt, Jessica Trautmann, Sophia Peters
EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 180-180
引用0浏览0引用
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BRAT1–related Disorders: Phenotypic Spectrum and Phenotype-Genotype Correlations from 97 Patients
Camille Engel,Stéphanie Valence,Geoffroy Delplancq,Reza Maroofian,Andrea Accogli,Emanuele Agolini,Fowzan S. Alkuraya,Valentina Baglioni,Irene Bagnasco,Mathilde Becmeur-Lefebvre,Enrico Bertini,Ingo Borggraefe,Elise Brischoux-Boucher,Ange-Line Bruel,Alfredo Brusco,Dalal K. Bubshait,Christelle Cabrol,Maria Roberta Cilio,Marie-Coralie Cornet,Christine Coubes,Olivier Danhaive,Valérie Delague,Anne-Sophie Denommé-Pichon,Marilena Carmela Di Giacomo,Martine Doco-Fenzy,Hartmut Engels,Kirsten Cremer,Marion Gérard,Joseph G. Gleeson,Delphine Heron,Joanna Goffeney,Anne Guimier,Frederike L. Harms,Henry Houlden,Michele Iacomino,Rauan Kaiyrzhanov,Benjamin Kamien,Ehsan Ghayoor Karimiani,Dror Kraus,Paul Kuentz,Kerstin Kutsche,Damien Lederer,Lauren Massingham,Cyril Mignot,Déborah Morris-Rosendahl,Lakshmi Nagarajan,Sylvie Odent,Clothilde Ormières, Jennifer Neil Partlow,Laurent Pasquier,Lynette Penney,Christophe Philippe,Gianluca Piccolo,Cathryn Poulton,Audrey Putoux,Marlène Rio,Christelle Rougeot,Vincenzo Salpietro,Ingrid Scheffer,Amy Schneider,Siddharth Srivastava,Rachel Straussberg,Pasquale Striano,Enza Maria Valente,Perrine Venot,Laurent Villard,Antonio Vitobello,Johanna Wagner,Matias Wagner,Maha S. Zaki,Federizo Zara,Gaetan Lesca,Vahid Reza Yassaee,Mohammad Miryounesi,Farzad Hashemi-Gorji, Mehran Beiraghi,Farah Ashrafzadeh,Hamid Galehdari,Christopher Walsh,Antonio Novelli,Moritz Tacke,Dinara Sadykova,Yerdan Maidyrov, Kairgali Koneev,Chingiz Shashkin,Valeria Capra,Mina Zamani,Lionel Van Maldergem,Lydie Burglen,Juliette Piard
European Journal of Human Genetics (2023)
引用2浏览0WOSNATURE引用
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Unexpected Array CGH result in a patient with leading symptom ocular coloboma
Kirsten Cremer,Hela Hundertmark, Nuria Ortega Ibanez,Elisabeth Mangold, Jelena Maric-Biresev,Hartmut Engels,Jessica Trautmann
EUROPEAN JOURNAL OF HUMAN GENETICS (2023): 109-110
引用0浏览0引用
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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 Boesch,Claudia Weiss,Natalie Weinhold, Aude-Annick Suter,Corinna Stoltenburg,Julia Neugebauer, Tillmann Kallinich,Angela M. Kaindl,Susanne Holzhauer,Christoph Buehrer,Philip Bufler,Uwe Kornak,Claus-Eric Ott,Markus Schuelke,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 Muecke,Lorenz Grigull,Thomas Klockgether,Spier Isabel,Andre Heimbach,Bender Tim,Fabian Brand,Christiane Stieber, Alexandra Marzena Morawiec,Pantelis Karakostas, Valentin S. Schaefer,Sarah Bernsen,Patrick Weydt,Sergio Castro-Gomez,Ahmad Aziz,Marcus Grobe-Einsler,Okka Kimmich,Xenia Kobeleva,Demet oender,Hellen Lesmann,Sheetal Kumar,Pawel Tacik,Min Ae Lee-Kirsch,Reinhard Berner,Catharina Schuetz,Julia Koerholz,Tanita Kretschmer,Nataliya Di Donato,Evelin Schroeck,Andre 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 Muenchau,Katja Lohmann,Irina Huening,Britta Hanker,Tobias Baeumer,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 Schroeder,Meino Rohlfs,Vill Katharina,Fabian Hauck,Ingo Borggraefe,Wolfgang Mueller-Felber,Ingo Kurth,Miriam Elbracht,Cordula Knopp,Matthias Begemann,Florian Kraft,Johannes Lemke,Julia Hentschel,Konrad Platzer,Vincent Strehlow,Rami Abou Jamra,Martin Kehrer,German Demidov,Stefanie Beck-Woedl,Holm Graessner,Marc Sturm,Lena Zeltner, Ludger J. Schoels,Janine Magg,Andrea Bevot,Christiane Kehrer,Nadja Kaiser,Denise Horn,Annette Grueters-Kieslich,Christoph Klein,Stefan Mundlos,Markus Noethen,Olaf Riess,Thomas Meitinger,Heiko Krude,Peter M. Krawitz,Tobias Haack,Nadja Ehmke,Matias Wagner
medRxiv (Cold Spring Harbor Laboratory) (2023)
引用3浏览0引用
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作者统计

#Papers: 54

#Citation: 2767

H-Index: 23

G-Index: 37

Sociability: 7

Diversity: 2

Activity: 18

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