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Axel Schmidt
University Bonn and University Hospital Bonn
22H指数
88论文数
1.6K被引数
收录论文 34
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A homozygous lamin B receptor variant resulting in Pelger–Huët anomaly without skeletal dysplasia纯合子层粘连蛋白B受体变异导致无骨骼发育不良的Pelger–Huët异常.png)
Nucleus.png)
2026-08-20
0
OAAI
Katrin Hoffmann; Amparo Vayá; José M. Ricart Vayá; Oliver Küchler; Axel Schmidt; Nicolai von Kügelgen; Björn Fischer-Zirnsak; Karl Sperling
NucleusIF4.5
2026-08-200OAAIKatrin Hoffmann; Amparo Vayá; José M. Ricart Vayá; Oliver Küchler; Axel Schmidt; Nicolai von Kügelgen; Björn Fischer-Zirnsak; Karl Sperling.png){kind=icon}
分享.png){kind=icon}
收藏Host control of persistent Epstein–Barr virus infection宿主对持续性EB病毒感染的调控Nature2026-02-190Axel Schmidt; T. Madhusankha Alawathurage; Friederike S. David; Yosuke Ogawa; Leonard Frach; Sylvia Richter; Merle Schaefer; Carina M. Mathey; Sabrina K. Henne; Andreas J. Forstner; Alexander T. Dilthey; Anne-Katrin Pröbstel; Kaan Boztug; Markus M. Nöthen; Ho Namkoong; Yukinori Okada; Eva C. Beins; Kerstin U. Ludwig
NatureIF48.5
2026-02-190PREAI
Axel Schmidt; T. Madhusankha Alawathurage; Friederike S. David; Yosuke Ogawa; Leonard Frach; Sylvia Richter; Merle Schaefer; Carina M. Mathey; Sabrina K. Henne; Andreas J. Forstner; Alexander T. Dilthey; Anne-Katrin Pröbstel; Kaan Boztug; Markus M. Nöthen; Ho Namkoong; Yukinori Okada; Eva C. Beins; Kerstin U. Ludwig分享收藏Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxiaCAPN1激活因子CD99L2的功能缺失变异导致X连锁痉挛性共济失调Nature Communications2026-02-140
OAAIBenita Menden; Rana D. Incebacak Eltemur; German Demidov; Marc Sturm; Joohyun Park; Chrisovalantou Huridou; Florian Fath; Astrid Nümann; Alexander Baumann; Illja J. Diets; Claudia Dufke; Martin Regensburger; Maria Rönnefarth; Vera Wilke; Nienke van Os; Stefan Vielhaber; Tim W. Rattay; Zacharias Kohl; Susana Peralta; Priscila Pereira Sena; Melanie Kellner; Nadine Weissert; Andreas Traschütz; Lena Zeltner; Kai Boelmans; Natalie Deininger; Leon Schütz; Caspar Gross; Ana Beatriz Hinojosa Amaya; Katrin Raupach; Holger Hengel; Florian Harmuth; Jakob Admard; Ingrid Bader; Sarah Baumann; Friedemann Bender; Andrea Bevot; Almut Bischoff; Felix Boschann; Rebecca Buchert; Daniel Buchzik; Nicolas Casadei; Claudia B. Catarino; Isabell Cordts; Kirsten Cremer; Marion Doebler-Neumann; Nadja Ehmke; Miriam Elbracht; Ruth J. Falb; Thomas Feindt; Zofia Fleszar; Lea Gerstner; Dieter Gläser; Ute Grasshoff; Sarah Grosch; Kathrin Grundmann; Alexander Gutschalk; Manja Haaga; Stefanie Hayer; Ute Hehr; Yorck Hellenbroich; Wolfram Henn; Barbara Herr; Rebecca Herzog; Veronka Horber; Jonas Deppe; Nadja Kaiser; Christiane Kehrer; Martin Kehrer; Jan Kern; Christoph Keßler; Katharina Khuller; Hannah Klinkhammer; Urania Kotzaeridou; Peter Krawitz; Martina Kreiss; Hanna Küpper; Alice Kuster; Lucia Laugwitz; Anne Lesemann; Nadine Lichey; Tobias Linden; Boris Macek; Janine Magg; Elisabeth Mangold; Eva Manka; Iris Marquardt; Karl Mehnert; David Mengel; Susanne Morlot; Barbara Oehl-Jaschkowitz; Martje G. Pauly; Melanie Philipp; Florentine Radelfahr; Maren Rautenberg; Angelika Riess; Carsten Saft; Beate Schlotter-Weigel; Axel Schmidt; Eva M. C. Schwaibold; Veronika Spahlinger; Stephanie Spranger; Katharina Marie Steiner; Claudia Stendel; Andreas Thieme; Andreas Tzschach; Ana Velic; Sarah Wiethoff; Carlo Wilke; Stephan Züchner; Simone Zittel; Ralf A. Husain; Marcus Deschauer; Felix Distelmaier; Andreas Dufke; Holm Graessner; Bernhard Hemmer; Heike Jacobi; Thomas Klockgether; Thomas Klopstock; Xenia Kobeleva; Georg-Christoph Korenke; Alma Kuechler; Gregor Kuhlenbäumer; Ingo Kurth; Huu Phuc Nguyen; Gilbert Wunderlich; Kirsten E. Zeuner; Stephan Klebe; Michaela Auer-Grumbach; Michaela Butryn; Jürgen Winkler; Dagmar Timmann; Matthis Synofzik; Bart van de Warrenburg; Rebecca Schüle; Ludger Schöls; Stephan Ossowski; Olaf Riess; Jonasz J. Weber; Tobias B. Haack
Nature CommunicationsIF15.7
2026-02-140OAAIBenita Menden; Rana D. Incebacak Eltemur; German Demidov; Marc Sturm; Joohyun Park; Chrisovalantou Huridou; Florian Fath; Astrid Nümann; Alexander Baumann; Illja J. Diets; Claudia Dufke; Martin Regensburger; Maria Rönnefarth; Vera Wilke; Nienke van Os; Stefan Vielhaber; Tim W. Rattay; Zacharias Kohl; Susana Peralta; Priscila Pereira Sena; Melanie Kellner; Nadine Weissert; Andreas Traschütz; Lena Zeltner; Kai Boelmans; Natalie Deininger; Leon Schütz; Caspar Gross; Ana Beatriz Hinojosa Amaya; Katrin Raupach; Holger Hengel; Florian Harmuth; Jakob Admard; Ingrid Bader; Sarah Baumann; Friedemann Bender; Andrea Bevot; Almut Bischoff; Felix Boschann; Rebecca Buchert; Daniel Buchzik; Nicolas Casadei; Claudia B. Catarino; Isabell Cordts; Kirsten Cremer; Marion Doebler-Neumann; Nadja Ehmke; Miriam Elbracht; Ruth J. Falb; Thomas Feindt; Zofia Fleszar; Lea Gerstner; Dieter Gläser; Ute Grasshoff; Sarah Grosch; Kathrin Grundmann; Alexander Gutschalk; Manja Haaga; Stefanie Hayer; Ute Hehr; Yorck Hellenbroich; Wolfram Henn; Barbara Herr; Rebecca Herzog; Veronka Horber; Jonas Deppe; Nadja Kaiser; Christiane Kehrer; Martin Kehrer; Jan Kern; Christoph Keßler; Katharina Khuller; Hannah Klinkhammer; Urania Kotzaeridou; Peter Krawitz; Martina Kreiss; Hanna Küpper; Alice Kuster; Lucia Laugwitz; Anne Lesemann; Nadine Lichey; Tobias Linden; Boris Macek; Janine Magg; Elisabeth Mangold; Eva Manka; Iris Marquardt; Karl Mehnert; David Mengel; Susanne Morlot; Barbara Oehl-Jaschkowitz; Martje G. Pauly; Melanie Philipp; Florentine Radelfahr; Maren Rautenberg; Angelika Riess; Carsten Saft; Beate Schlotter-Weigel; Axel Schmidt; Eva M. C. Schwaibold; Veronika Spahlinger; Stephanie Spranger; Katharina Marie Steiner; Claudia Stendel; Andreas Thieme; Andreas Tzschach; Ana Velic; Sarah Wiethoff; Carlo Wilke; Stephan Züchner; Simone Zittel; Ralf A. Husain; Marcus Deschauer; Felix Distelmaier; Andreas Dufke; Holm Graessner; Bernhard Hemmer; Heike Jacobi; Thomas Klockgether; Thomas Klopstock; Xenia Kobeleva; Georg-Christoph Korenke; Alma Kuechler; Gregor Kuhlenbäumer; Ingo Kurth; Huu Phuc Nguyen; Gilbert Wunderlich; Kirsten E. Zeuner; Stephan Klebe; Michaela Auer-Grumbach; Michaela Butryn; Jürgen Winkler; Dagmar Timmann; Matthis Synofzik; Bart van de Warrenburg; Rebecca Schüle; Ludger Schöls; Stephan Ossowski; Olaf Riess; Jonasz J. Weber; Tobias B. Haack分享收藏KLHL13 functional defects cause neurodevelopmental disorder in humans that can be rescued via inhibition of AURKB in cellular and animal modelsKLHL13功能缺陷会导致人类神经发育障碍，该障碍可通过抑制AURKB在细胞和动物模型中得到挽救。Genetics in Medicine2025-10-250Tehmeena Akhter; Zubair M. Ahmed; Yaping Ji; Axel Schmidt; Meron Azage; Maria Palomares; Kirsten Cremer; Hartmut Engels; Jennifer O. Murphy; Sophia Peters; Elisabeth Mangold; Gomez-Cano MLÁ; Rodney J. Taylor; Sheikh Riazuddin; Saima Riazuddin
Genetics in MedicineIF6.2
2025-10-250PREAI
Tehmeena Akhter; Zubair M. Ahmed; Yaping Ji; Axel Schmidt; Meron Azage; Maria Palomares; Kirsten Cremer; Hartmut Engels; Jennifer O. Murphy; Sophia Peters; Elisabeth Mangold; Gomez-Cano MLÁ; Rodney J. Taylor; Sheikh Riazuddin; Saima Riazuddin分享收藏AlphaMissense prediction for the evaluation of missense variants in the diagnostic setting of neuromuscular disordersAlphaMissense预测在神经肌肉疾病诊断中对错义变异的评估2025-09-050OAAIMartin Krenn; Axel Schmidt; Matias Wagner; Margot Ernst; Elisabeth Graf; Gudrun Zulehner; Hakan Cetin; Fritz Zimprich; Jakob Rath
2025-09-050OAAIMartin Krenn; Axel Schmidt; Matias Wagner; Margot Ernst; Elisabeth Graf; Gudrun Zulehner; Hakan Cetin; Fritz Zimprich; Jakob Rath分享收藏The rs10191329 Risk Allele Is Associated With Pronounced Retinal Layer Atrophy in Multiple Sclerosisrs10191329风险等位基因与多发性硬化中明显的视网膜层萎缩相关。2025-08-040OAAIGabriel Bsteh; Ruchi Tanavade; Nik Krajnc; Fabian Föttinger; Theresa König; Martin Krenn; Lukas Haider; Barbara Kornek; Fritz Leutmezer; Kerstin U. Ludwig; Stefan Macher; Tobias Monschein; Markus Ponleitner; Paulus Rommer; Christiane Schmied; Karin Zebenholzer; Tobias Zrzavy; Gudrun Zulehner; Franziska Di Pauli; Axel Schmidt; Harald Hegen; Berthold Pemp; Thomas Berger
2025-08-040OAAIGabriel Bsteh; Ruchi Tanavade; Nik Krajnc; Fabian Föttinger; Theresa König; Martin Krenn; Lukas Haider; Barbara Kornek; Fritz Leutmezer; Kerstin U. Ludwig; Stefan Macher; Tobias Monschein; Markus Ponleitner; Paulus Rommer; Christiane Schmied; Karin Zebenholzer; Tobias Zrzavy; Gudrun Zulehner; Franziska Di Pauli; Axel Schmidt; Harald Hegen; Berthold Pemp; Thomas Berger分享收藏Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings作者更正: 将下一代表型整合到超早期疾病患者的国家框架中，可改善遗传诊断并产生新的分子发现2025-06-240OAAIAxel 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 Bhasin; 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
2025-06-240OAAIAxel 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 Bhasin; 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分享收藏Systematic assessment of COVID-19 host genetics using whole genome sequencing data使用全基因组测序数据对新型冠状病毒肺炎宿主遗传学进行系统评估PLOS PATHOGENS2024-12-230OAAISchmidt, Axel; Casadei, Nicolas; Brand, Fabian; Demidov, German; Vojgani, Elaheh; Abolhassani, Ayda; Aldisi, Rana; Butler-Laporte, Guillaume; Alawathurage, T. Madhusankha; Augustin, Max; Bals, Robert; Bellinghausen, Carla; Berger, Marc Moritz; Bitzer, Michael; Bode, Christian; Boos, Jannik; Brenner, Thorsten; Cornely, Oliver A.; Eggermann, Thomas; Erber, Johanna; Feldt, Torsten; Fuchsberger, Christian; Gagneur, Julien; Goepel, Siri; Haack, Tobias; Haeberle, Helene; Hanses, Frank; Heggemann, Julia; Hehr, Ute; Hellmuth, Johannes C.; Herr, Christian; Hinney, Anke; Hoffmann, Per; Illig, Thomas; Jensen, Bjoern-Erik Ole; Keitel, Verena; Kim-Hellmuth, Sarah; Koehler, Philipp; Kurth, Ingo; Lanz, Anna-Lisa; Latz, Eicke; Lehmann, Clara; Luedde, Tom; Maj, Carlo; Mian, Michael; Miller, Abigail; Muenchhoff, Maximilian; Pink, Isabell; Protzer, Ulrike; Rohn, Hana; Rybniker, Jan; Scaggiante, Federica; Schaffeldt, Anna; Scherer, Clemens; Schieck, Maximilian; Schmidt, Susanne V.; Schommers, Philipp; Spinner, Christoph D.; Vehreschild, Maria J. G. T.; Velavan, Thirumalaisamy P.; Volland, Sonja; Wilfling, Sibylle; Winter, Christof; Richards, J. Brent; Heimbach, Andre; Becker, Kerstin; Ossowski, Stephan; Schultze, Joachim L.; Nuernberg, Peter; Noethen, Markus M.; Motameny, Susanne; Nothnagel, Michael; Riess, Olaf; Schulte, Eva C.; Ludwig, Kerstin U.
PLOS PATHOGENSIF4.9
2024-12-230OAAISchmidt, Axel; Casadei, Nicolas; Brand, Fabian; Demidov, German; Vojgani, Elaheh; Abolhassani, Ayda; Aldisi, Rana; Butler-Laporte, Guillaume; Alawathurage, T. Madhusankha; Augustin, Max; Bals, Robert; Bellinghausen, Carla; Berger, Marc Moritz; Bitzer, Michael; Bode, Christian; Boos, Jannik; Brenner, Thorsten; Cornely, Oliver A.; Eggermann, Thomas; Erber, Johanna; Feldt, Torsten; Fuchsberger, Christian; Gagneur, Julien; Goepel, Siri; Haack, Tobias; Haeberle, Helene; Hanses, Frank; Heggemann, Julia; Hehr, Ute; Hellmuth, Johannes C.; Herr, Christian; Hinney, Anke; Hoffmann, Per; Illig, Thomas; Jensen, Bjoern-Erik Ole; Keitel, Verena; Kim-Hellmuth, Sarah; Koehler, Philipp; Kurth, Ingo; Lanz, Anna-Lisa; Latz, Eicke; Lehmann, Clara; Luedde, Tom; Maj, Carlo; Mian, Michael; Miller, Abigail; Muenchhoff, Maximilian; Pink, Isabell; Protzer, Ulrike; Rohn, Hana; Rybniker, Jan; Scaggiante, Federica; Schaffeldt, Anna; Scherer, Clemens; Schieck, Maximilian; Schmidt, Susanne V.; Schommers, Philipp; Spinner, Christoph D.; Vehreschild, Maria J. G. T.; Velavan, Thirumalaisamy P.; Volland, Sonja; Wilfling, Sibylle; Winter, Christof; Richards, J. Brent; Heimbach, Andre; Becker, Kerstin; Ossowski, Stephan; Schultze, Joachim L.; Nuernberg, Peter; Noethen, Markus M.; Motameny, Susanne; Nothnagel, Michael; Riess, Olaf; Schulte, Eva C.; Ludwig, Kerstin U.分享收藏Further delineation of the SCAF4-associated neurodevelopmental disorder2024-12-120OAAISchmid, Cosima M.; Gregor, Anne; Ruiz, Anna; Manso Bazus, Carmen; Herman, Isabella; Ammouri, Farah; Kotzaeridou, Urania; Mcniven, Vanda; Dupuis, Lucie; Steindl, Katharina; Begemann, Anais; Rauch, Anita; Suter, Aude-Annick; Isidor, Bertrand; Mercier, Sandra; Nizon, Mathilde; Cogne, Benjamin; Deb, Wallid; Besnard, Thomas; Haack, Tobias B.; Falb, Ruth J.; Mueller, Amelie J.; Linden, Tobias; Haldeman-Englert, Chad R.; Ockeloen, Charlotte W.; Mattioli, Francesca; Reymond, Alexandre; Ibrahim, Nazia; Naz, Shagufta; Lacaze, Elodie; Bassetti, Jennifer A.; Hoefele, Julia; Brunet, Theresa; Riedhammer, Korbinian M.; Elloumi, Houda Z.; Person, Richard; Zou, Fanggeng; Kahle, Juliette J.; Cremer, Kirsten; Schmidt, Axel; Delrue, Marie-Ange; Almeida, Pedro M.; Ramos, Fabiana; Srivastava, Siddharth; Quinlan, Aisling; Robertson, Stephen; Manka, Eva; Kuechler, Alma; Spranger, Stephanie; Nowaczyk, Malgorzata J. M.; Elshafie, Reem M.; Alsharhan, Hind; Hillman, Paul R.; Dunnington, Leslie A.; Braakman, Hilde M. H.; Mckee, Shane; Moresco, Angelica; Ignat, Andrea-Diana; Newbury-Ecob, Ruth; Banneau, Guillaume; Patat, Olivier; Kuerbitz, Jeffrey; Rzucidlo, Susan; Sell, Susan S.; Gordon, Patricia; Schuhmann, Sarah; Reis, Andre; Halleb, Yosra; Stoeva, Radka; Keren, Boris; Al Masseri, Zainab; Tuemer, Zeynep; Hammer-Hansen, Sophia; Krueger Solyst, Sofus; Steigerwald, Connolly G.; Abreu, Nicolas J.; Faust, Helene; Mueller-Nedebock, Amica; Tran Mau-Them, Frederic; Sticht, Heinrich; Zweier, Christiane
2024-12-120OAAISchmid, Cosima M.; Gregor, Anne; Ruiz, Anna; Manso Bazus, Carmen; Herman, Isabella; Ammouri, Farah; Kotzaeridou, Urania; Mcniven, Vanda; Dupuis, Lucie; Steindl, Katharina; Begemann, Anais; Rauch, Anita; Suter, Aude-Annick; Isidor, Bertrand; Mercier, Sandra; Nizon, Mathilde; Cogne, Benjamin; Deb, Wallid; Besnard, Thomas; Haack, Tobias B.; Falb, Ruth J.; Mueller, Amelie J.; Linden, Tobias; Haldeman-Englert, Chad R.; Ockeloen, Charlotte W.; Mattioli, Francesca; Reymond, Alexandre; Ibrahim, Nazia; Naz, Shagufta; Lacaze, Elodie; Bassetti, Jennifer A.; Hoefele, Julia; Brunet, Theresa; Riedhammer, Korbinian M.; Elloumi, Houda Z.; Person, Richard; Zou, Fanggeng; Kahle, Juliette J.; Cremer, Kirsten; Schmidt, Axel; Delrue, Marie-Ange; Almeida, Pedro M.; Ramos, Fabiana; Srivastava, Siddharth; Quinlan, Aisling; Robertson, Stephen; Manka, Eva; Kuechler, Alma; Spranger, Stephanie; Nowaczyk, Malgorzata J. M.; Elshafie, Reem M.; Alsharhan, Hind; Hillman, Paul R.; Dunnington, Leslie A.; Braakman, Hilde M. H.; Mckee, Shane; Moresco, Angelica; Ignat, Andrea-Diana; Newbury-Ecob, Ruth; Banneau, Guillaume; Patat, Olivier; Kuerbitz, Jeffrey; Rzucidlo, Susan; Sell, Susan S.; Gordon, Patricia; Schuhmann, Sarah; Reis, Andre; Halleb, Yosra; Stoeva, Radka; Keren, Boris; Al Masseri, Zainab; Tuemer, Zeynep; Hammer-Hansen, Sophia; Krueger Solyst, Sofus; Steigerwald, Connolly G.; Abreu, Nicolas J.; Faust, Helene; Mueller-Nedebock, Amica; Tran Mau-Them, Frederic; Sticht, Heinrich; Zweier, Christiane分享收藏A conserved peptide- binding pocket in HyNaC/ASIC ion channels2024-10-040OAAIOrtega-Ramirez, Audrey Magdalena; Albani, Simone; Bachmann, Michele; Schmidt, Axel; Pinoe, Manuela; Assmann, Marc; Augustinowski, Katrin; Rossetti, Giulia; Gruender, Stefan
2024-10-040OAAIOrtega-Ramirez, Audrey Magdalena; Albani, Simone; Bachmann, Michele; Schmidt, Axel; Pinoe, Manuela; Assmann, Marc; Augustinowski, Katrin; Rossetti, Giulia; Gruender, Stefan分享收藏De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset strokeRNF213的De novo变异与从Leigh综合征到早发性中风的临床范围相关GENETICS IN MEDICINE2024-02-015Brunet, Theresa; Zott, Benedikt; Lieftuchter, Victoria; Lenz, Dominic; Schmidt, Axel; Peters, Philipp; Kopajtich, Robert; Zaddach, Malin; Zimmermann, Hanna; Huning, Irina; Ballhausen, Diana; Staufner, Christian; Bianzano, Alyssa; Hughes, Joanne; Taylor, Robert W.; McFarland, Robert; Devlin, Anita; MihaljeviC, Mihaela; Barisic, Nina; Rohlfs, Meino; Wilfling, Sibylle; Sondheimer, Neal; Hewson, Stacy; Marinakis, Nikolaos M.; Kosma, Konstantina; Traeger-Synodinos, Joanne; Elbracht, Miriam; Begemann, Matthias; Trepels-Kottek, Sonja; Hasan, Dimah; Scala, Marcello; Capra, Valeria; Zara, Federico; van der Ven, Amelie T.; Driemeyer, Joenna; Apitz, Christian; Kramer, Johannes; Strong, Alanna; Hakonarson, Hakon; Watson, Deborah; Mayr, Johannes A.; Prokisch, Holger; Meitinger, Thomas; Borggraefe, Ingo; Spiegler, Juliane; Baric, Ivo; Paolini, Marco; Gerstl, Lucia; Wagner, Matias
GENETICS IN MEDICINEIF6.2
2024-02-015PREAI
Brunet, Theresa; Zott, Benedikt; Lieftuchter, Victoria; Lenz, Dominic; Schmidt, Axel; Peters, Philipp; Kopajtich, Robert; Zaddach, Malin; Zimmermann, Hanna; Huning, Irina; Ballhausen, Diana; Staufner, Christian; Bianzano, Alyssa; Hughes, Joanne; Taylor, Robert W.; McFarland, Robert; Devlin, Anita; MihaljeviC, Mihaela; Barisic, Nina; Rohlfs, Meino; Wilfling, Sibylle; Sondheimer, Neal; Hewson, Stacy; Marinakis, Nikolaos M.; Kosma, Konstantina; Traeger-Synodinos, Joanne; Elbracht, Miriam; Begemann, Matthias; Trepels-Kottek, Sonja; Hasan, Dimah; Scala, Marcello; Capra, Valeria; Zara, Federico; van der Ven, Amelie T.; Driemeyer, Joenna; Apitz, Christian; Kramer, Johannes; Strong, Alanna; Hakonarson, Hakon; Watson, Deborah; Mayr, Johannes A.; Prokisch, Holger; Meitinger, Thomas; Borggraefe, Ingo; Spiegler, Juliane; Baric, Ivo; Paolini, Marco; Gerstl, Lucia; Wagner, Matias分享收藏Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features蛋白磷酸酶1调节亚基3F (PPP1R3F) 的半合子变体与以发育迟缓，智力障碍和自闭症特征为特征的神经发育障碍有关2023-08-023OAAILiu, Zhigang; Xin, Baozhong; Smith, Iris N.; Sency, Valerie; Szekely, Julia; Alkelai, Anna; Shuldiner, Alan; Efthymiou, Stephanie; Rajabi, Farrah; Coury, Stephanie; Brownstein, Catherine A.; Rudnik-Schoeneborn, Sabine; Bruel, Ange-Line; Thevenon, Julien; Zeidler, Shimriet; Jayakar, Parul; Schmidt, Axel; Cremer, Kirsten; Engels, Hartmut; Peters, Sophia O.; Zaki, Maha S.; Duan, Ruizhi; Zhu, Changlian; Xu, Yiran; Gao, Chao; Sepulveda-Morales, Tania; Maroofian, Reza; Alkhawaja, Issam A.; Khawaja, Mariam; Alhalasah, Hunaida; Houlden, Henry; Madden, Jill A.; Turchetti, Valentina; Marafi, Dana; Agrawal, Pankaj B.; Schatz, Ulrich; Rotenberg, Ari; Rotenberg, Joshua; Mancini, Grazia M. S.; Bakhtiari, Somayeh; Kruer, Michael; Thiffault, Isabelle; Hirsch, Steffen; Hempel, Maja; Stuehn, Lara G.; Haack, Tobias B.; Posey, Jennifer E.; Lupski, James R.; Lee, Hyunpil; Sarn, Nicholas B.; Eng, Charis; Gonzaga-Jauregui, Claudia; Zhang, Bin; Wang, Heng
2023-08-023OAAILiu, Zhigang; Xin, Baozhong; Smith, Iris N.; Sency, Valerie; Szekely, Julia; Alkelai, Anna; Shuldiner, Alan; Efthymiou, Stephanie; Rajabi, Farrah; Coury, Stephanie; Brownstein, Catherine A.; Rudnik-Schoeneborn, Sabine; Bruel, Ange-Line; Thevenon, Julien; Zeidler, Shimriet; Jayakar, Parul; Schmidt, Axel; Cremer, Kirsten; Engels, Hartmut; Peters, Sophia O.; Zaki, Maha S.; Duan, Ruizhi; Zhu, Changlian; Xu, Yiran; Gao, Chao; Sepulveda-Morales, Tania; Maroofian, Reza; Alkhawaja, Issam A.; Khawaja, Mariam; Alhalasah, Hunaida; Houlden, Henry; Madden, Jill A.; Turchetti, Valentina; Marafi, Dana; Agrawal, Pankaj B.; Schatz, Ulrich; Rotenberg, Ari; Rotenberg, Joshua; Mancini, Grazia M. S.; Bakhtiari, Somayeh; Kruer, Michael; Thiffault, Isabelle; Hirsch, Steffen; Hempel, Maja; Stuehn, Lara G.; Haack, Tobias B.; Posey, Jennifer E.; Lupski, James R.; Lee, Hyunpil; Sarn, Nicholas B.; Eng, Charis; Gonzaga-Jauregui, Claudia; Zhang, Bin; Wang, Heng分享收藏Physiologically relevant acid-sensing ion channel (ASIC) 2a/3 heteromers have a 1:2 stoichiometry2023-07-082OAAIFischer, Leon; Schmidt, Axel; Dopychai, Anke; Joussen, Sylvia; Joeres, Niko; Oslender-Bujotzek, Adrienne; Schmalzing, Guenther; Gruender, Stefan
2023-07-082OAAIFischer, Leon; Schmidt, Axel; Dopychai, Anke; Joussen, Sylvia; Joeres, Niko; Oslender-Bujotzek, Adrienne; Schmalzing, Guenther; Gruender, Stefan分享收藏Episignature analysis of moderate effects and mosaics中等效应和镶嵌的epi签名分析2023-06-2612OAAIOexle, Konrad; Zech, Michael; Stuehn, Lara G.; Siegert, Sandy; Brunet, Theresa; Schmidt, Wolfgang M.; Wagner, Matias; Schmidt, Axel; Engels, Hartmut; Tilch, Erik; Monestier, Olivier; Destree, Anne; Hanker, Britta; Boesch, Sylvia; Jech, Robert; Berutti, Riccardo; Kaiser, Frank; Haslinger, Bernhard; Haack, Tobias B.; Garavaglia, Barbara; Krawitz, Peter; Winkelmann, Juliane; Mirza-Schreiber, Nazanin
2023-06-2612OAAIOexle, Konrad; Zech, Michael; Stuehn, Lara G.; Siegert, Sandy; Brunet, Theresa; Schmidt, Wolfgang M.; Wagner, Matias; Schmidt, Axel; Engels, Hartmut; Tilch, Erik; Monestier, Olivier; Destree, Anne; Hanker, Britta; Boesch, Sylvia; Jech, Robert; Berutti, Riccardo; Kaiser, Frank; Haslinger, Bernhard; Haack, Tobias B.; Garavaglia, Barbara; Krawitz, Peter; Winkelmann, Juliane; Mirza-Schreiber, Nazanin分享收藏Genomic analyses of hair from Ludwig van BeethovenCURRENT BIOLOGY2023-04-0130OAAIBegg, Tristan James Alexander; Schmidt, Axel; Kocher, Arthur; Larmuseau, Maarten H. D.; Runfeldt, Goran; Maier, Paul Andrew; Wilson, John D.; Barquera, Rodrigo; Maj, Carlo; Szolek, Andras; Sager, Michael; Clayton, Stephen; Peltzer, Alexander; Hui, Ruoyun; Ronge, Julia; Reiter, Ella; Freund, Caecilia; Burri, Marta; Aron, Franziska; Tiliakou, Anthi; Osborn, Joanna; Behar, Doron M.; Boecker, Malte; Brandt, Guido; Cleynen, Isabelle; Strassburg, Christian; Pruefer, Kay; Kuehnert, Denise; Meredith, William Rhea; Noethen, Markus M.; Attenborough, Robert David; Kivisild, Toomas; Krause, Johannes
CURRENT BIOLOGYIF7.5
2023-04-0130OAAIBegg, Tristan James Alexander; Schmidt, Axel; Kocher, Arthur; Larmuseau, Maarten H. D.; Runfeldt, Goran; Maier, Paul Andrew; Wilson, John D.; Barquera, Rodrigo; Maj, Carlo; Szolek, Andras; Sager, Michael; Clayton, Stephen; Peltzer, Alexander; Hui, Ruoyun; Ronge, Julia; Reiter, Ella; Freund, Caecilia; Burri, Marta; Aron, Franziska; Tiliakou, Anthi; Osborn, Joanna; Behar, Doron M.; Boecker, Malte; Brandt, Guido; Cleynen, Isabelle; Strassburg, Christian; Pruefer, Kay; Kuehnert, Denise; Meredith, William Rhea; Noethen, Markus M.; Attenborough, Robert David; Kivisild, Toomas; Krause, Johannes分享收藏Prioritization of non-coding elements involved in non-syndromic cleft lip with/without cleft palate through genome-wide analysis of de novo mutations2023-01-014OAAIZieger, Hanna K.; Weinhold, Leonie; Schmidt, Axel; Holtgrewe, Manuel; Juranek, Stefan A.; Siewert, Anna; Scheer, Annika B.; Thieme, Frederic; Mangold, Elisabeth; Ishorst, Nina; Brand, Fabian U.; Welzenbach, Julia; Beule, Dieter; Paeschke, Katrin; Krawitz, Peter M.; Ludwig, Kerstin U.
2023-01-014OAAIZieger, Hanna K.; Weinhold, Leonie; Schmidt, Axel; Holtgrewe, Manuel; Juranek, Stefan A.; Siewert, Anna; Scheer, Annika B.; Thieme, Frederic; Mangold, Elisabeth; Ishorst, Nina; Brand, Fabian U.; Welzenbach, Julia; Beule, Dieter; Paeschke, Katrin; Krawitz, Peter M.; Ludwig, Kerstin U.分享收藏Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative全外显子组关联研究，以确定影响新型冠状病毒肺炎结果的罕见变异: 来自宿主遗传学倡议的结果PLOS GENETICS2022-11-0331OAAIButler-Laporte, Guillaume; Povysil, Gundula; Kosmicki, Jack A.; Cirulli, Elizabeth T.; Drivas, Theodore; Furini, Simone; Saad, Chadi; Schmidt, Axel; Olszewski, Pawel; Korotko, Urszula; Quinodoz, Mathieu; Celik, Elifnaz; Kundu, Kousik; Walter, Klaudia; Jung, Junghyun; Stockwell, Amy D.; Sloofman, Laura G.; Jordan, Daniel M.; Thompson, Ryan C.; Del Valle, Diane; Simons, Nicole; Cheng, Esther; Sebra, Robert; Schadt, Eric E.; Kim-Schulze, Seunghee; Gnjatic, Sacha; Merad, Miriam; Buxbaum, Joseph D.; Beckmann, Noam D.; Charney, Alexander W.; Przychodzen, Bartlomiej; Chang, Timothy; Pottinger, Tess D.; Shang, Ning; Brand, Fabian; Fava, Francesca; Mari, Francesca; Chwialkowska, Karolina; Niemira, Magdalena; Pula, Szymon; Baillie, J. Kenneth; Stuckey, Alex; Salas, Antonio; Bello, Xabier; Pardo-Seco, Jacobo; Gomez-Carballa, Alberto; Rivero-Calle, Irene; Martinon-Torres, Federico; Ganna, Andrea; Karczewski, Konrad J.; Veerapen, Kumar; Bourgey, Mathieu; Bourque, Guillaume; Eveleigh, Robert Jm; Forgetta, Vincenzo; Morrison, David; Langlais, David; Lathrop, Mark; Mooser, Vincent; Nakanishi, Tomoko; Frithiof, Robert; Hultstrom, Michael; Lipcsey, Miklos; Marincevic-Zuniga, Yanara; Nordlund, Jessica; Barrett, Kelly M. Schiabor; Lee, William; Bolze, Alexandre; White, Simon; Riffle, Stephen; Tanudjaja, Francisco; Sandoval, Efren; Neveux, Iva; Dabe, Shaun; Casadei, Nicolas; Motameny, Susanne; Alaamery, Manal; Massadeh, Salam; Aljawini, Nora; Almutairi, Mansour S.; Arabi, Yaseen M.; Alqahtani, Saleh A.; Al Harthi, Fawz S.; Almutairi, Amal; Alqubaishi, Fatima; Alotaibi, Sarah; Binowayn, Albandari; Alsolm, Ebtehal A.; El Bardisy, Hadeel; Fawzy, Mohammad; Cai, Fang; Soranzo, Nicole; Butterworth, Adam; Geschwind, Daniel H.; Arteaga, Stephanie; Stephens, Alexis; Butte, Manish J.; Boutros, Paul C.; Yamaguchi, Takafumi N.; Tao, Shu; Eng, Stefan; Sanders, Timothy; Tung, Paul J.; Broudy, Michael E.; Pan, Yu; Gonzalez, Alfredo; Chavan, Nikhil; Johnson, Ruth; Pasaniuc, Bogdan; Yaspan, Brian; Smieszek, Sandra; Rivolta, Carlo; Bibert, Stephanie; Bochud, Pierre-Yves; Dabrowski, Maciej; Zawadzki, Pawel; Sypniewski, Mateusz; Kaja, Elzbieta; Chariyavilaskul, Pajaree; Nilaratanakul, Voraphoj; Hirankarn, Nattiya; Shotelersuk, Vorasuk; Pongpanich, Monnat; Phokaew, Chureerat; Chetruengchai, Wanna; Tokunaga, Katsushi; Sugiyama, Masaya; Kawai, Yosuke; Hasegawa, Takanori; Naito, Tatsuhiko; Namkoong, Ho; Edahiro, Ryuya; Kimura, Akinori; Ogawa, Seishi; Kanai, Takanori; Fukunaga, Koichi; Okada, Yukinori; Imoto, Seiya; Miyano, Satoru; Mangul, Serghei; Abedalthagafi, Malak S.; Zeberg, Hugo; Grzymski, Joseph J.; Washington, Nicole L.; Ossowski, Stephan; Ludwig, Kerstin U.; Schulte, Eva C.; Riess, Olaf; Moniuszko, Marcin; Kwasniewski, Miroslaw; Mbarek, Hamdi; Ismail, Said I.; Verma, Anurag; Goldstein, David B.; Kiryluk, Krzysztof; Renieri, Alessandra; Ferreira, Manuel A. R.; Richards, J. Brent
PLOS GENETICSIF3.7
2022-11-0331OAAIButler-Laporte, Guillaume; Povysil, Gundula; Kosmicki, Jack A.; Cirulli, Elizabeth T.; Drivas, Theodore; Furini, Simone; Saad, Chadi; Schmidt, Axel; Olszewski, Pawel; Korotko, Urszula; Quinodoz, Mathieu; Celik, Elifnaz; Kundu, Kousik; Walter, Klaudia; Jung, Junghyun; Stockwell, Amy D.; Sloofman, Laura G.; Jordan, Daniel M.; Thompson, Ryan C.; Del Valle, Diane; Simons, Nicole; Cheng, Esther; Sebra, Robert; Schadt, Eric E.; Kim-Schulze, Seunghee; Gnjatic, Sacha; Merad, Miriam; Buxbaum, Joseph D.; Beckmann, Noam D.; Charney, Alexander W.; Przychodzen, Bartlomiej; Chang, Timothy; Pottinger, Tess D.; Shang, Ning; Brand, Fabian; Fava, Francesca; Mari, Francesca; Chwialkowska, Karolina; Niemira, Magdalena; Pula, Szymon; Baillie, J. Kenneth; Stuckey, Alex; Salas, Antonio; Bello, Xabier; Pardo-Seco, Jacobo; Gomez-Carballa, Alberto; Rivero-Calle, Irene; Martinon-Torres, Federico; Ganna, Andrea; Karczewski, Konrad J.; Veerapen, Kumar; Bourgey, Mathieu; Bourque, Guillaume; Eveleigh, Robert Jm; Forgetta, Vincenzo; Morrison, David; Langlais, David; Lathrop, Mark; Mooser, Vincent; Nakanishi, Tomoko; Frithiof, Robert; Hultstrom, Michael; Lipcsey, Miklos; Marincevic-Zuniga, Yanara; Nordlund, Jessica; Barrett, Kelly M. Schiabor; Lee, William; Bolze, Alexandre; White, Simon; Riffle, Stephen; Tanudjaja, Francisco; Sandoval, Efren; Neveux, Iva; Dabe, Shaun; Casadei, Nicolas; Motameny, Susanne; Alaamery, Manal; Massadeh, Salam; Aljawini, Nora; Almutairi, Mansour S.; Arabi, Yaseen M.; Alqahtani, Saleh A.; Al Harthi, Fawz S.; Almutairi, Amal; Alqubaishi, Fatima; Alotaibi, Sarah; Binowayn, Albandari; Alsolm, Ebtehal A.; El Bardisy, Hadeel; Fawzy, Mohammad; Cai, Fang; Soranzo, Nicole; Butterworth, Adam; Geschwind, Daniel H.; Arteaga, Stephanie; Stephens, Alexis; Butte, Manish J.; Boutros, Paul C.; Yamaguchi, Takafumi N.; Tao, Shu; Eng, Stefan; Sanders, Timothy; Tung, Paul J.; Broudy, Michael E.; Pan, Yu; Gonzalez, Alfredo; Chavan, Nikhil; Johnson, Ruth; Pasaniuc, Bogdan; Yaspan, Brian; Smieszek, Sandra; Rivolta, Carlo; Bibert, Stephanie; Bochud, Pierre-Yves; Dabrowski, Maciej; Zawadzki, Pawel; Sypniewski, Mateusz; Kaja, Elzbieta; Chariyavilaskul, Pajaree; Nilaratanakul, Voraphoj; Hirankarn, Nattiya; Shotelersuk, Vorasuk; Pongpanich, Monnat; Phokaew, Chureerat; Chetruengchai, Wanna; Tokunaga, Katsushi; Sugiyama, Masaya; Kawai, Yosuke; Hasegawa, Takanori; Naito, Tatsuhiko; Namkoong, Ho; Edahiro, Ryuya; Kimura, Akinori; Ogawa, Seishi; Kanai, Takanori; Fukunaga, Koichi; Okada, Yukinori; Imoto, Seiya; Miyano, Satoru; Mangul, Serghei; Abedalthagafi, Malak S.; Zeberg, Hugo; Grzymski, Joseph J.; Washington, Nicole L.; Ossowski, Stephan; Ludwig, Kerstin U.; Schulte, Eva C.; Riess, Olaf; Moniuszko, Marcin; Kwasniewski, Miroslaw; Mbarek, Hamdi; Ismail, Said I.; Verma, Anurag; Goldstein, David B.; Kiryluk, Krzysztof; Renieri, Alessandra; Ferreira, Manuel A. R.; Richards, J. Brent分享收藏Next-generation phenotyping contributing to the identification of a 4.7 kb deletion in KANSL1 causing Koolen-de Vries syndrome下一代表型有助于鉴定导致koolen-de Vries综合征的KANSL1中4.7 kb缺失HUMAN MUTATION2022-10-026OAAIBrand, Fabian; Vijayananth, Aswinkumar; Hsieh, Tzung-Chien; Schmidt, Axel; Peters, Sophia; Mangold, Elisabeth; Cremer, Kirsten; Bender, Tim; Sivalingam, Sugirthan; Hundertmark, Hela; Knaus, Alexej; Engels, Hartmut; Krawitz, Peter M.; Perne, Claudia
HUMAN MUTATIONIF3.7
2022-10-026OAAIBrand, Fabian; Vijayananth, Aswinkumar; Hsieh, Tzung-Chien; Schmidt, Axel; Peters, Sophia; Mangold, Elisabeth; Cremer, Kirsten; Bender, Tim; Sivalingam, Sugirthan; Hundertmark, Hela; Knaus, Alexej; Engels, Hartmut; Krawitz, Peter M.; Perne, Claudia分享收藏Detailed stratified GWAS analysis for severe COVID-19 in four European populations对四个欧洲人群的严重新型冠状病毒肺炎进行详细的分层gis分析2022-07-1548OAAIDegenhardt, Frauke; Ellinghaus, David; Juzenas, Simonas; Lerga-Jaso, Jon; Wendorff, Mareike; Maya-Miles, Douglas; Uellendahl-Werth, Florian; ElAbd, Hesham; Ruehlemann, Malte C.; Arora, Jatin; Oezer, Onur; Lenning, Ole Bernt; Myhre, Ronny; Vadla, May Sissel; Wacker, Eike M.; Wienbrandt, Lars; Blandino Ortiz, Aaron; de Salazar, Adolfo; Garrido Chercoles, Adolfo; Palom, Adriana; Ruiz, Agustin; Garcia-Fernandez, Alba-Estela; Blanco-Grau, Albert; Mantovani, Alberto; Zanella, Alberto; Holten, Aleksander Rygh; Mayer, Alena; Bandera, Alessandra; Cherubini, Alessandro; Protti, Alessandro; Aghemo, Alessio; Gerussi, Alessio; Ramirez, Alfredo; Braun, Alice; Nebel, Almut; Barreira, Ana; Lleo, Ana; Teles, Ana; Kildal, Anders Benjamin; Biondi, Andrea; Caballero-Garralda, Andrea; Ganna, Andrea; Gori, Andrea; Glueck, Andreas; Lind, Andreas; Tanck, Anja; Hinney, Anke; Carreras Nolla, Anna; Fracanzani, Anna Ludovica; Peschuck, Anna; Cavallero, Annalisa; Dyrhol-Riise, Anne Ma; Ruello, Antonella; Julia, Antonio; Muscatello, Antonio; Pesenti, Antonio; Voza, Antonio; Rando-Segura, Ariadna; Solier, Aurora; Schmidt, Axel; Cortes, Beatriz; Mateos, Beatriz; Nafria-Jimenez, Beatriz; Schaefer, Benedikt; Jensen, Bjoern; Bellinghausen, Carla; Maj, Carlo; Ferrando, Carlos; de la Horra, Carmen; Quereda, Carmen; Skurk, Carsten; Thibeault, Charlotte; Scollo, Chiara; Herr, Christian; Spinner, Christoph D.; Gassner, Christoph; Lange, Christoph; Hu, Cinzia; Paccapelo, Cinzia; Lehmann, Clara; Angelini, Claudio; Cappadona, Claudio; Azuure, Clinton; Bianco, Cristiana; Cea, Cristina; Sancho, Cristina; Hoff, Dag Arne Lihaug; Galimberti, Daniela; Prati, Daniele; Haschka, David; Jimenez, David; Pestana, David; Toapanta, David; Muniz-Diaz, Eduardo; Azzolini, Elena; Sandoval, Elena; Binatti, Eleonora; Scarpini, Elio; Helbig, Elisa T.; Casalone, Elisabetta; Urrechaga, Eloisa; Paraboschi, Elvezia Maria; Pontali, Emanuele; Reverter, Enric; Calderon, Enrique J.; Navas, Enrique; Solligard, Erik; Contro, Ernesto; Arana-Arri, Eunate; Aziz, Fatima; Garcia, Federico; Garcia Sanchez, Felix; Ceriotti, Ferruccio; Martinelli-Boneschi, Filippo; Peyvandi, Flora; Kurth, Florian; Blasi, Francesco; Malvestiti, Francesco; Medrano, Francisco J.; Mesonero, Francisco; Rodriguez-Frias, Francisco; Hanses, Frank; Mueller, Fredrik; Hemmrich-Stanisak, Georg; Bellani, Giacomo; Grasselli, Giacomo; Pezzoli, Gianni; Costantino, Giorgio; Albano, Giovanni; Cardamone, Giulia; Bellelli, Giuseppe; Citerio, Giuseppe; Foti, Giuseppe; Lamorte, Giuseppe; Matullo, Giuseppe; Baselli, Guido; Kurihara, Hayato; Neb, Holger; My, Ilaria; Kurth, Ingo; Hernandez, Isabel; Pink, Isabell; de Rojas, Itziar; Galvan-Femenia, Ivan; Holter, Jan Cato; Afset, Jan Egil; Heyckendorf, Jan; Kaessens, Jan; Damas, Jan Kristian; Rybniker, Jan; Altmueller, Janine; Ampuero, Javier; Martin, Javier; Erdmann, Jeanette; Banales, Jesus M.; Badia, Joan Ramon; Dopazo, Joaquin; Schneider, Jochen; Bergan, Jonas; Barretina, Jordi; Walter, Joern; Hernandez Quero, Jose; Goikoetxea, Josune; Delgado, Juan; Guerrero, Juan M.; Fazaal, Julia; Kraft, Julia; Schroeder, Julia; Risnes, Kari; Banasik, Karina; Mueller, Karl Erik; Gaede, Karoline I.; Garcia-Etxebarria, Koldo; Tonby, Kristian; Heggelund, Lars; Izquierdo-Sanchez, Laura; Bettini, Laura Rachele; Sumoy, Lauro; Sander, Leif Erik; Lippert, Lena J.; Terranova, Leonardo; Nkambule, Lindokuhle; Knopp, Lisa; Gustad, Lise Tuset; Garbarino, Lucia; Santoro, Luigi; Tellez, Luis; Roade, Luisa; Ostadreza, Mahnoosh; Intxausti, Maider; Kogevinas, Manolis; Riveiro-Barciela, Mar; Berger, Marc M.; Schaefer, Marco; Niemi, Mari E. K.; Gutierrez-Stampa, Maria A.; Carrabba, Maria; Figuera Basso, Maria E.; Valsecchi, Maria Grazia; Hernandez-Tejero, Maria; Vehreschild, Maria J. G. T.; Manunta, Maria; Acosta-Herrera, Marialbert; D'Angio, Mariella; Baldini, Marina; Cazzaniga, Marina; Grimsrud, Marit M.; Cornberg, Markus; Noethen, Markus M.; Marquie, Marta; Castoldi, Massimo; Cordioli, Mattia; Cecconi, Maurizio; D'Amato, Mauro; Augustin, Max; Tomasi, Melissa; Boada, Merce; Dreher, Michael; Seilmaier, Michael J.; Joannidis, Michael; Wittig, Michael; Mazzocco, Michela; Ciccarelli, Michele; Rodriguez-Gandia, Miguel; Bocciolone, Monica; Miozzo, Monica; Imaz Ayo, Natale; Blay, Natalia; Chueca, Natalia; Montano, Nicola; Braun, Nicole; Ludwig, Nicole; Marx, Nikolaus; Martinez, Nilda; Cornely, Oliver A.; Witzke, Oliver; Palmieri, Orazio; Faverio, Paola; Preatoni, Paoletta; Bonfanti, Paolo; Omodei, Paolo; Tentorio, Paolo; Castro, Pedro; Rodrigues, Pedro M.; Espana, Pedro Pablo; Hoffmann, Per; Rosenstiel, Philip; Schommers, Philipp; Suwalski, Phillip; de Pablo, Raul; Ferrer, Ricard; Bals, Robert; Gualtierotti, Roberta; Gallego-Duran, Rocio; Nieto, Rosa; Carpani, Rossana; Morilla, Ruben; Badalamenti, Salvatore; Haider, Sammra; Ciesek, Sandra; May, Sandra; Bombace, Sara; Marsal, Sara; Pigazzini, Sara; Klein, Sebastian; Pelusi, Serena; Wilfling, Sibylle; Bosari, Silvano; Volland, Sonja; Brunak, Soren; Raychaudhuri, Soumya; Schreiber, Stefan; Heilmann-Heimbach, Stefanie; Aliberti, Stefano; Ripke, Stephan; Dudman, Susanne; Wesse, Tanja; Zheng, Tenghao; Bahmer, Thomas; Eggermann, Thomas; Illig, Thomas; Brenner, Thorsten; Pumarola, Tomas; Feldt, Torsten; Folseraas, Trine; Gonzalez Cejudo, Trinidad; Landmesser, Ulf; Protzer, Ulrike; Hehr, Ute; Rimoldi, Valeria; Monzani, Valter; Skogen, Vegard; Keitel, Verena; Kopfnagel, Verena; Friaza, Vicente; Andrade, Victor; Moreno, Victor; Albrecht, Wolfgang; Peter, Wolfgang; Poller, Wolfgang; Farre, Xavier; Yi, Xiaoli; Wang, Xiaomin; Khodamoradi, Yascha; Karadeniz, Zehra; Latiano, Anna; Goerg, Siegfried; Bacher, Petra; Koehler, Philipp; Tran, Florian; Zoller, Heinz; Schulte, Eva C.; Heidecker, Bettina; Ludwig, Kerstin U.; Fernandez, Javier; Romero-Gomez, Manuel; Albillos, Agustin; Invernizzi, Pietro; Buti, Maria; Duga, Stefano; Bujanda, Luis; Hov, Johannes R.; Lenz, Tobias L.; Asselta, Rosanna; de Cid, Rafael; Valenti, Luca; Karlsen, Tom H.; Caceres, Mario; Franke, Andre
2022-07-1548OAAIDegenhardt, Frauke; Ellinghaus, David; Juzenas, Simonas; Lerga-Jaso, Jon; Wendorff, Mareike; Maya-Miles, Douglas; Uellendahl-Werth, Florian; ElAbd, Hesham; Ruehlemann, Malte C.; Arora, Jatin; Oezer, Onur; Lenning, Ole Bernt; Myhre, Ronny; Vadla, May Sissel; Wacker, Eike M.; Wienbrandt, Lars; Blandino Ortiz, Aaron; de Salazar, Adolfo; Garrido Chercoles, Adolfo; Palom, Adriana; Ruiz, Agustin; Garcia-Fernandez, Alba-Estela; Blanco-Grau, Albert; Mantovani, Alberto; Zanella, Alberto; Holten, Aleksander Rygh; Mayer, Alena; Bandera, Alessandra; Cherubini, Alessandro; Protti, Alessandro; Aghemo, Alessio; Gerussi, Alessio; Ramirez, Alfredo; Braun, Alice; Nebel, Almut; Barreira, Ana; Lleo, Ana; Teles, Ana; Kildal, Anders Benjamin; Biondi, Andrea; Caballero-Garralda, Andrea; Ganna, Andrea; Gori, Andrea; Glueck, Andreas; Lind, Andreas; Tanck, Anja; Hinney, Anke; Carreras Nolla, Anna; Fracanzani, Anna Ludovica; Peschuck, Anna; Cavallero, Annalisa; Dyrhol-Riise, Anne Ma; Ruello, Antonella; Julia, Antonio; Muscatello, Antonio; Pesenti, Antonio; Voza, Antonio; Rando-Segura, Ariadna; Solier, Aurora; Schmidt, Axel; Cortes, Beatriz; Mateos, Beatriz; Nafria-Jimenez, Beatriz; Schaefer, Benedikt; Jensen, Bjoern; Bellinghausen, Carla; Maj, Carlo; Ferrando, Carlos; de la Horra, Carmen; Quereda, Carmen; Skurk, Carsten; Thibeault, Charlotte; Scollo, Chiara; Herr, Christian; Spinner, Christoph D.; Gassner, Christoph; Lange, Christoph; Hu, Cinzia; Paccapelo, Cinzia; Lehmann, Clara; Angelini, Claudio; Cappadona, Claudio; Azuure, Clinton; Bianco, Cristiana; Cea, Cristina; Sancho, Cristina; Hoff, Dag Arne Lihaug; Galimberti, Daniela; Prati, Daniele; Haschka, David; Jimenez, David; Pestana, David; Toapanta, David; Muniz-Diaz, Eduardo; Azzolini, Elena; Sandoval, Elena; Binatti, Eleonora; Scarpini, Elio; Helbig, Elisa T.; Casalone, Elisabetta; Urrechaga, Eloisa; Paraboschi, Elvezia Maria; Pontali, Emanuele; Reverter, Enric; Calderon, Enrique J.; Navas, Enrique; Solligard, Erik; Contro, Ernesto; Arana-Arri, Eunate; Aziz, Fatima; Garcia, Federico; Garcia Sanchez, Felix; Ceriotti, Ferruccio; Martinelli-Boneschi, Filippo; Peyvandi, Flora; Kurth, Florian; Blasi, Francesco; Malvestiti, Francesco; Medrano, Francisco J.; Mesonero, Francisco; Rodriguez-Frias, Francisco; Hanses, Frank; Mueller, Fredrik; Hemmrich-Stanisak, Georg; Bellani, Giacomo; Grasselli, Giacomo; Pezzoli, Gianni; Costantino, Giorgio; Albano, Giovanni; Cardamone, Giulia; Bellelli, Giuseppe; Citerio, Giuseppe; Foti, Giuseppe; Lamorte, Giuseppe; Matullo, Giuseppe; Baselli, Guido; Kurihara, Hayato; Neb, Holger; My, Ilaria; Kurth, Ingo; Hernandez, Isabel; Pink, Isabell; de Rojas, Itziar; Galvan-Femenia, Ivan; Holter, Jan Cato; Afset, Jan Egil; Heyckendorf, Jan; Kaessens, Jan; Damas, Jan Kristian; Rybniker, Jan; Altmueller, Janine; Ampuero, Javier; Martin, Javier; Erdmann, Jeanette; Banales, Jesus M.; Badia, Joan Ramon; Dopazo, Joaquin; Schneider, Jochen; Bergan, Jonas; Barretina, Jordi; Walter, Joern; Hernandez Quero, Jose; Goikoetxea, Josune; Delgado, Juan; Guerrero, Juan M.; Fazaal, Julia; Kraft, Julia; Schroeder, Julia; Risnes, Kari; Banasik, Karina; Mueller, Karl Erik; Gaede, Karoline I.; Garcia-Etxebarria, Koldo; Tonby, Kristian; Heggelund, Lars; Izquierdo-Sanchez, Laura; Bettini, Laura Rachele; Sumoy, Lauro; Sander, Leif Erik; Lippert, Lena J.; Terranova, Leonardo; Nkambule, Lindokuhle; Knopp, Lisa; Gustad, Lise Tuset; Garbarino, Lucia; Santoro, Luigi; Tellez, Luis; Roade, Luisa; Ostadreza, Mahnoosh; Intxausti, Maider; Kogevinas, Manolis; Riveiro-Barciela, Mar; Berger, Marc M.; Schaefer, Marco; Niemi, Mari E. K.; Gutierrez-Stampa, Maria A.; Carrabba, Maria; Figuera Basso, Maria E.; Valsecchi, Maria Grazia; Hernandez-Tejero, Maria; Vehreschild, Maria J. G. T.; Manunta, Maria; Acosta-Herrera, Marialbert; D'Angio, Mariella; Baldini, Marina; Cazzaniga, Marina; Grimsrud, Marit M.; Cornberg, Markus; Noethen, Markus M.; Marquie, Marta; Castoldi, Massimo; Cordioli, Mattia; Cecconi, Maurizio; D'Amato, Mauro; Augustin, Max; Tomasi, Melissa; Boada, Merce; Dreher, Michael; Seilmaier, Michael J.; Joannidis, Michael; Wittig, Michael; Mazzocco, Michela; Ciccarelli, Michele; Rodriguez-Gandia, Miguel; Bocciolone, Monica; Miozzo, Monica; Imaz Ayo, Natale; Blay, Natalia; Chueca, Natalia; Montano, Nicola; Braun, Nicole; Ludwig, Nicole; Marx, Nikolaus; Martinez, Nilda; Cornely, Oliver A.; Witzke, Oliver; Palmieri, Orazio; Faverio, Paola; Preatoni, Paoletta; Bonfanti, Paolo; Omodei, Paolo; Tentorio, Paolo; Castro, Pedro; Rodrigues, Pedro M.; Espana, Pedro Pablo; Hoffmann, Per; Rosenstiel, Philip; Schommers, Philipp; Suwalski, Phillip; de Pablo, Raul; Ferrer, Ricard; Bals, Robert; Gualtierotti, Roberta; Gallego-Duran, Rocio; Nieto, Rosa; Carpani, Rossana; Morilla, Ruben; Badalamenti, Salvatore; Haider, Sammra; Ciesek, Sandra; May, Sandra; Bombace, Sara; Marsal, Sara; Pigazzini, Sara; Klein, Sebastian; Pelusi, Serena; Wilfling, Sibylle; Bosari, Silvano; Volland, Sonja; Brunak, Soren; Raychaudhuri, Soumya; Schreiber, Stefan; Heilmann-Heimbach, Stefanie; Aliberti, Stefano; Ripke, Stephan; Dudman, Susanne; Wesse, Tanja; Zheng, Tenghao; Bahmer, Thomas; Eggermann, Thomas; Illig, Thomas; Brenner, Thorsten; Pumarola, Tomas; Feldt, Torsten; Folseraas, Trine; Gonzalez Cejudo, Trinidad; Landmesser, Ulf; Protzer, Ulrike; Hehr, Ute; Rimoldi, Valeria; Monzani, Valter; Skogen, Vegard; Keitel, Verena; Kopfnagel, Verena; Friaza, Vicente; Andrade, Victor; Moreno, Victor; Albrecht, Wolfgang; Peter, Wolfgang; Poller, Wolfgang; Farre, Xavier; Yi, Xiaoli; Wang, Xiaomin; Khodamoradi, Yascha; Karadeniz, Zehra; Latiano, Anna; Goerg, Siegfried; Bacher, Petra; Koehler, Philipp; Tran, Florian; Zoller, Heinz; Schulte, Eva C.; Heidecker, Bettina; Ludwig, Kerstin U.; Fernandez, Javier; Romero-Gomez, Manuel; Albillos, Agustin; Invernizzi, Pietro; Buti, Maria; Duga, Stefano; Bujanda, Luis; Hov, Johannes R.; Lenz, Tobias L.; Asselta, Rosanna; de Cid, Rafael; Valenti, Luca; Karlsen, Tom H.; Caceres, Mario; Franke, Andre分享收藏Adult-Onset Neurodegeneration in Nucleotide Excision Repair Disorders (NERDND): Time to Move Beyond the Skin核苷酸切除修复疾病 (NERDND) 中的成人发作神经变性: 时间超越皮肤MOVEMENT DISORDERS2022-06-1411OAAICordts, Isabell; Oender, Demet; Traschuetz, Andreas; Kobeleva, Xenia; Karin, Ivan; Minnerop, Martina; Koertvelyessy, Peter; Biskup, Saskia; Forchhammer, Stephan; Binder, Johannes; Tzschach, Andreas; Meiss, Frank; Schmidt, Axel; Kreiss, Martina; Cremer, Kirsten; Mensah, Martin A.; Park, Joohyun; Rautenberg, Maren; Deininger, Natalie; Sturm, Marc; Lingor, Paul; Klopstock, Thomas; Weiler, Markus; Marxreiter, Franz; Synofzik, Matthis; Posch, Christian; Sirokay, Judith; Klockgether, Thomas; Haack, Tobias B.; Deschauer, Marcus
MOVEMENT DISORDERSIF7.6
2022-06-1411OAAICordts, Isabell; Oender, Demet; Traschuetz, Andreas; Kobeleva, Xenia; Karin, Ivan; Minnerop, Martina; Koertvelyessy, Peter; Biskup, Saskia; Forchhammer, Stephan; Binder, Johannes; Tzschach, Andreas; Meiss, Frank; Schmidt, Axel; Kreiss, Martina; Cremer, Kirsten; Mensah, Martin A.; Park, Joohyun; Rautenberg, Maren; Deininger, Natalie; Sturm, Marc; Lingor, Paul; Klopstock, Thomas; Weiler, Markus; Marxreiter, Franz; Synofzik, Matthis; Posch, Christian; Sirokay, Judith; Klockgether, Thomas; Haack, Tobias B.; Deschauer, Marcus分享收藏