换一批Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
第一作者：
Axel,Schmidt
第一单位：
Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.
作者：
Axel,Schmidt [1]
;
Magdalena,Danyel [2]
;
Kathrin,Grundmann [3]
;
Theresa,Brunet [4]
;
Hannah,Klinkhammer [5]
;
Tzung-Chien,Hsieh [6]
;
Hartmut,Engels [1]
;
Sophia,Peters [1]
;
Alexej,Knaus [6]
;
Shahida,Moosa [7]
;
Luisa,Averdunk [8]
;
Felix,Boschann [2]
;
Henrike Lisa,Sczakiel [2]
;
Sarina,Schwartzmann [9]
;
Martin Atta,Mensah [2]
;
Jean Tori,Pantel [10]
;
Manuel,Holtgrewe [11]
;
Annemarie,Bösch [12]
;
Claudia,Weiß [12]
;
Natalie,Weinhold [12]
;
Aude-Annick,Suter [12]
;
Corinna,Stoltenburg [12]
;
Julia,Neugebauer [12]
;
Tillmann,Kallinich [12]
;
Angela M,Kaindl [13]
;
Susanne,Holzhauer [12]
;
Christoph,Bührer [12]
;
Philip,Bufler [12]
;
Uwe,Kornak [9]
;
Claus-Eric,Ott [9]
;
Markus,Schülke [9]
;
Hoa Huu Phuc,Nguyen [14]
;
Sabine,Hoffjan [14]
;
Corinna,Grasemann [15]
;
Tobias,Rothoeft [15]
;
Folke,Brinkmann [15]
;
Nora,Matar [15]
;
Sugirthan,Sivalingam [1]
;
Claudia,Perne [1]
;
Elisabeth,Mangold [1]
;
Martina,Kreiss [1]
;
Kirsten,Cremer [1]
;
Regina C,Betz [1]
;
Martin,Mücke [16]
;
Lorenz,Grigull [16]
;
Thomas,Klockgether [17]
;
Isabel,Spier [1]
;
André,Heimbach [1]
;
Tim,Bender [16]
;
Fabian,Brand [6]
;
Christiane,Stieber [16]
;
Alexandra Marzena,Morawiec [16]
;
Pantelis,Karakostas [18]
;
Valentin S,Schäfer [18]
;
Sarah,Bernsen [16]
;
Patrick,Weydt [17]
;
Sergio,Castro-Gomez [17]
;
Ahmad,Aziz [17]
;
Marcus,Grobe-Einsler [17]
;
Okka,Kimmich [17]
;
Xenia,Kobeleva [17]
;
Demet,Önder [17]
;
Hellen,Lesmann [1]
;
Sheetal,Kumar [1]
;
Pawel,Tacik [17]
;
Meghna Ahuja,Bhasin [6]
;
Pietro,Incardona [6]
;
Min Ae,Lee-Kirsch [19]
;
Reinhard,Berner [19]
;
Catharina,Schuetz [19]
;
Julia,Körholz [19]
;
Tanita,Kretschmer [19]
;
Nataliya,Di Donato [20]
;
Evelin,Schröck [20]
;
André,Heinen [19]
;
Ulrike,Reuner [21]
;
Amalia-Mihaela,Hanßke [22]
;
Frank J,Kaiser [23]
;
Eva,Manka [24]
;
Martin,Munteanu [23]
;
Alma,Kuechler [23]
;
Kiewert,Cordula [24]
;
Raphael,Hirtz [24]
;
Elena,Schlapakow [25]
;
Christian,Schlein [26]
;
Jasmin,Lisfeld [26]
;
Christian,Kubisch [27]
;
Theresia,Herget [26]
;
Maja,Hempel [28]
;
Christina,Weiler-Normann [29]
;
Kurt,Ullrich [30]
;
Christoph,Schramm [29]
;
Cornelia,Rudolph [30]
;
Franziska,Rillig [30]
;
Maximilian,Groffmann [30]
;
Ania,Muntau [31]
;
Alexandra,Tibelius [32]
;
Eva M C,Schwaibold [32]
;
Christian P,Schaaf [32]
;
Michal,Zawada [32]
;
Lilian,Kaufmann [32]
;
Katrin,Hinderhofer [32]
;
Pamela M,Okun [33]
;
Urania,Kotzaeridou [33]
;
Georg F,Hoffmann [33]
;
Daniela,Choukair [33]
;
Markus,Bettendorf [33]
;
Malte,Spielmann [34]
;
Annekatrin,Ripke [35]
;
Martje,Pauly [36]
;
Alexander,Münchau [37]
;
Katja,Lohmann [38]
;
Irina,Hüning [34]
;
Britta,Hanker [39]
;
Tobias,Bäumer [37]
;
Rebecca,Herzog [40]
;
Yorck,Hellenbroich [41]
;
Dominik S,Westphal [4]
;
Tim,Strom [4]
;
Reka,Kovacs [4]
;
Korbinian M,Riedhammer [42]
;
Katharina,Mayerhanser [4]
;
Elisabeth,Graf [4]
;
Melanie,Brugger [4]
;
Julia,Hoefele [4]
;
Konrad,Oexle [43]
;
Nazanin,Mirza-Schreiber [43]
;
Riccardo,Berutti [43]
;
Ulrich,Schatz [4]
;
Martin,Krenn [44]
;
Christine,Makowski [45]
;
Heike,Weigand [46]
;
Sebastian,Schröder [46]
;
Meino,Rohlfs [46]
;
Katharina,Vill [46]
;
Fabian,Hauck [46]
;
Ingo,Borggraefe [46]
;
Wolfgang,Müller-Felber [46]
;
Ingo,Kurth [47]
;
Miriam,Elbracht [47]
;
Cordula,Knopp [47]
;
Matthias,Begemann [47]
;
Florian,Kraft [47]
;
Johannes R,Lemke [48]
;
Julia,Hentschel [49]
;
Konrad,Platzer [49]
;
Vincent,Strehlow [49]
;
Rami,Abou Jamra [49]
;
Martin,Kehrer [3]
;
German,Demidov [3]
;
Stefanie,Beck-Wödl [3]
;
Holm,Graessner [50]
;
Marc,Sturm [3]
;
Lena,Zeltner [50]
;
Ludger J,Schöls [51]
;
Janine,Magg [50]
;
Andrea,Bevot [52]
;
Christiane,Kehrer [52]
;
Nadja,Kaiser [52]
;
Ernest,Turro [53]
;
Denise,Horn [9]
;
Annette,Grüters-Kieslich [54]
;
Christoph,Klein [46]
;
Stefan,Mundlos [9]
;
Markus,Nöthen [1]
;
Olaf,Riess [3]
;
Thomas,Meitinger [4]
;
Heiko,Krude [54]
;
Peter M,Krawitz [55]
;
Tobias,Haack [3]
;
Nadja,Ehmke [2]
;
Matias,Wagner [56]
作者单位：
Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.
[1]
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.;BIH Charité Clinician Scientist Program, Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany.
[2]
Institute for Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
[3]
Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany.
[4]
Institute for Genomic Statistics and Bioinformatics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.;Institut für Medizinische Biometrie, Informatik und Epidemiologie, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.
[5]
Institute for Genomic Statistics and Bioinformatics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.
[6]
Institute for Medical Genetics, Stellenbosch University, Cape Town, South Africa.
[7]
Department of Pediatrics, University Hospital Düsseldorf, Düsseldorf, Germany.
[8]
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.
[9]
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.;Institute for Human Genetics and Genomic Medicine, Medical Faculty, Uniklinik RWTH Aachen University, Aachen, Germany.
[10]
Core Uni Bioinformatics, Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany.
[11]
Department of Pediatrics, Charité - Universitätsmedizin Berlin, Berlin, Germany.
[12]
Department of Pediatric Neurology, Charité - Universitätsmedizin Berlin, Berlin, Germany.;Center for Chronically Sick Children, Charité - Universitätsmedizin Berlin, Berlin, Germany.;Institute of Cell and Neurobiology, Charité - Universitätsmedizin Berlin, Berlin, Germany.
[13]
Department of Human Genetics, Ruhr University Bochum, Bochum, Germany.
[14]
Department of Pediatrics Bochum and CeSER, Ruhr University Bochum, Bochum, Germany.
[15]
Center for Rare Diseases, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.
[16]
Department of Neurology, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.
[17]
Clinic for Internal Medicine III, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.
[18]
University Center for Rare Diseases, University Hospital Carl Gustav Carus, Dresden, Germany.;Department of Pediatrics, University Hospital Carl Gustav Carus, Dresden, Germany.
[19]
University Center for Rare Diseases, University Hospital Carl Gustav Carus, Dresden, Germany.;Institute for Clinical Genetics, University Hospital Carl Gustav Carus, Dresden, Germany.
[20]
University Center for Rare Diseases, University Hospital Carl Gustav Carus, Dresden, Germany.;Department of Neurology, University Hospital Carl Gustav Carus, Dresden, Germany.
[21]
University Center for Rare Diseases, University Hospital Carl Gustav Carus, Dresden, Germany.
[22]
Institute of Human Genetics, University Hospital Essen, Essen, Germany.
[23]
Department of Pediatrics II, University Hospital Essen, Essen, Germany.
[24]
Department of Neurology, University Hospital Halle, Halle, Germany.
[25]
Institute of Human Genetics, University Hospital Hamburg-Eppendorf, Hamburg, Germany.
[26]
Institute of Human Genetics, University Hospital Hamburg-Eppendorf, Hamburg, Germany.;Martin Zeitz Center for Rare Diseases, University Hospital Hamburg-Eppendorf, Hamburg, Germany.
[27]
Institute of Human Genetics, University Hospital Hamburg-Eppendorf, Hamburg, Germany.;Martin Zeitz Center for Rare Diseases, University Hospital Hamburg-Eppendorf, Hamburg, Germany.;Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.
[28]
Martin Zeitz Center for Rare Diseases, University Hospital Hamburg-Eppendorf, Hamburg, Germany.;I. Department of Medicine, University Hospital Hamburg-Eppendorf, Hamburg, Germany.
[29]
Martin Zeitz Center for Rare Diseases, University Hospital Hamburg-Eppendorf, Hamburg, Germany.
[30]
Department of Pediatrics, University Hospital Hamburg-Eppendorf, Hamburg, Germany.
[31]
Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.
[32]
Center for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
[33]
Institute of Human Genetics, University Hospital Schleswig-Holstein, Lübeck, Germany.
[34]
Center for Rare Diseases, University Hospital Schleswig-Holstein, Lübeck, Germany.
[35]
Department of Neurology, University Hospital Schleswig-Holstein, Lübeck, Germany.;Institute for Neurogenetics, University Hospital Schleswig-Holstein, Lübeck, Germany.
[36]
Center for Rare Diseases, University Hospital Schleswig-Holstein, Lübeck, Germany.;Institute of Systems Motor Science, University of Lübeck, Lübeck, Germany.
[37]
Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
[38]
Institute of Human Genetics, University of Lübeck, Lübeck, Germany.
[39]
Center for Rare Diseases, University Hospital Schleswig-Holstein, Lübeck, Germany.;Department of Neurology, University Hospital Schleswig-Holstein, Lübeck, Germany.
[40]
Department of Human Genetics, University Hospital Schleswig-Holstein, Lübeck, Germany.
[41]
Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany.;Department of Nephrology, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany.
[42]
Institute of Neurogenomics, Helmholtz Zentrum München, München, Germany.
[43]
Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany.;Department of Neurology, Medical University of Vienna, Wien, Austria.
[44]
Department of Paediatrics, Adolescent Medicine and Neonatology, München, Germany.
[45]
Dr. von Hauner Children's Hospital, University Hospital Munich, München, Germany.
[46]
Institute for Human Genetics and Genomic Medicine, Medical Faculty, Uniklinik RWTH Aachen University, Aachen, Germany.
[47]
Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.;Center for Rare Diseases, University of Leipzig Medical Center, Leipzig, Germany.
[48]
Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
[49]
Center for Rare Diseases, University of Tübingen, Tübingen, Germany.
[50]
Department of Neurology, University of Tübingen, Tübingen, Germany.
[51]
Department of Pediatric Neurology and Developmental Medicine, University of Tübingen, Tübingen, Germany.
[52]
Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
[53]
Berlin Centre for Rare Diseases, Charité - Universitätsmedizin Berlin, Berlin, Germany.
[54]
Institute for Genomic Statistics and Bioinformatics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany. pkrawitz@uni-bonn.de.
[55]
Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany.;Institute of Neurogenomics, Helmholtz Zentrum München, München, Germany.;Dr. von Hauner Children's Hospital, University Hospital Munich, München, Germany.
[56]
DOI
10.1038/s41588-025-02271-6
PMID
40555819
发布时间
2025-07-25
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Nature genetics
Nature genetics
1790-1791页
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