Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings

Axel Schmidt^#¹, Magdalena Danyel^#^{2

3}, Kathrin Grundmann^#⁴, Theresa Brunet^#⁵, Hannah Klinkhammer^{6

7}, Tzung-Chien Hsieh⁶, Hartmut Engels¹, Sophia Peters¹, Alexej Knaus⁶, Shahida Moosa⁸, Luisa Averdunk⁹, Felix Boschann^{2

3}, Henrike Lisa Sczakiel^{2

3}, Sarina Schwartzmann², Martin Atta Mensah^{2

3}, Jean Tori Pantel^{2

10}, Manuel Holtgrewe¹¹, Annemarie Bösch¹², Claudia Weiß¹², Natalie Weinhold¹², Aude-Annick Suter¹², Corinna Stoltenburg¹², Julia Neugebauer¹², Tillmann Kallinich¹², Angela M Kaindl^{13

14

15}, Susanne Holzhauer¹², Christoph Bührer¹², Philip Bufler¹², Uwe Kornak², Claus-Eric Ott², Markus Schülke², Hoa Huu Phuc Nguyen¹⁶, Sabine Hoffjan¹⁶, Corinna Grasemann¹⁷, Tobias Rothoeft¹⁷, Folke Brinkmann¹⁷, Nora Matar¹⁷, Sugirthan Sivalingam¹, Claudia Perne¹, Elisabeth Mangold¹, Martina Kreiss¹, Kirsten Cremer¹, Regina C Betz¹, Martin Mücke¹⁸, Lorenz Grigull¹⁸, Thomas Klockgether¹⁹, Isabel Spier¹, André Heimbach¹, Tim Bender¹⁸, Fabian Brand⁶, Christiane Stieber¹⁸, Alexandra Marzena Morawiec¹⁸, Pantelis Karakostas²⁰, Valentin S Schäfer²⁰, Sarah Bernsen¹⁸, Patrick Weydt¹⁹, Sergio Castro-Gomez¹⁹, Ahmad Aziz¹⁹, Marcus Grobe-Einsler¹⁹, Okka Kimmich¹⁹, Xenia Kobeleva¹⁹, Demet Önder¹⁹, Hellen Lesmann¹, Sheetal Kumar¹, Pawel Tacik¹⁹, Meghna Ahuja Bhasin⁶, Pietro Incardona⁶, Min Ae Lee-Kirsch^{21

22}, Reinhard Berner^{21

22}, Catharina Schuetz^{21

22}, Julia Körholz^{21

22}, Tanita Kretschmer^{21

22}, Nataliya Di Donato^{21

23}, Evelin Schröck^{21

23}, André Heinen^{21

22}, Ulrike Reuner^{21

24}, Amalia-Mihaela Hanßke²¹, Frank J Kaiser²⁵, Eva Manka²⁶, Martin Munteanu²⁵, Alma Kuechler²⁵, Kiewert Cordula²⁶, Raphael Hirtz²⁶, Elena Schlapakow²⁷, Christian Schlein²⁸, Jasmin Lisfeld²⁸, Christian Kubisch^{28

29}, Theresia Herget²⁸, Maja Hempel^{28

29

30}, Christina Weiler-Normann^{29

31}, Kurt Ullrich²⁹, Christoph Schramm^{29

31}, Cornelia Rudolph²⁹, Franziska Rillig²⁹, Maximilian Groffmann²⁹, Ania Muntau³², Alexandra Tibelius³⁰, Eva M C Schwaibold³⁰, Christian P Schaaf³⁰, Michal Zawada³⁰, Lilian Kaufmann³⁰, Katrin Hinderhofer³⁰, Pamela M Okun³³, Urania Kotzaeridou³³, Georg F Hoffmann³³, Daniela Choukair³³, Markus Bettendorf³³, Malte Spielmann³⁴, Annekatrin Ripke³⁵, Martje Pauly^{36

37}, Alexander Münchau^{35

38}, Katja Lohmann³⁹, Irina Hüning³⁴, Britta Hanker⁴⁰, Tobias Bäumer^{35

38}, Rebecca Herzog^{35

36}, Yorck Hellenbroich⁴¹, Dominik S Westphal⁵, Tim Strom⁵, Reka Kovacs⁵, Korbinian M Riedhammer^{5

42}, Katharina Mayerhanser⁵, Elisabeth Graf⁵, Melanie Brugger⁵, Julia Hoefele⁵, Konrad Oexle⁴³, Nazanin Mirza-Schreiber⁴³, Riccardo Berutti⁴³, Ulrich Schatz⁵, Martin Krenn^{5

44}, Christine Makowski⁴⁵, Heike Weigand⁴⁶, Sebastian Schröder⁴⁶, Meino Rohlfs⁴⁶, Katharina Vill⁴⁶, Fabian Hauck⁴⁶, Ingo Borggraefe⁴⁶, Wolfgang Müller-Felber⁴⁶, Ingo Kurth¹⁰, Miriam Elbracht¹⁰, Cordula Knopp¹⁰, Matthias Begemann¹⁰, Florian Kraft¹⁰, Johannes R Lemke^{47

48}, Julia Hentschel⁴⁷, Konrad Platzer⁴⁷, Vincent Strehlow⁴⁷, Rami Abou Jamra⁴⁷, Martin Kehrer⁴, German Demidov⁴, Stefanie Beck-Wödl⁴, Holm Graessner⁴⁹, Marc Sturm⁴, Lena Zeltner⁴⁹, Ludger J Schöls⁵⁰, Janine Magg⁴⁹, Andrea Bevot⁵¹, Christiane Kehrer⁵¹, Nadja Kaiser⁵¹, Ernest Turro⁵², Denise Horn², Annette Grüters-Kieslich⁵³, Christoph Klein⁴⁶, Stefan Mundlos², Markus Nöthen¹, Olaf Riess⁴, Thomas Meitinger⁵, Heiko Krude⁵³, Peter M Krawitz⁵⁴, Tobias Haack⁴, Nadja Ehmke^{2

3}, Matias Wagner^{5

43

46}

Affiliations

¹ Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.
² Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.
³ BIH Charité Clinician Scientist Program, Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany.
⁴ Institute for Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
⁵ Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany.
⁶ Institute for Genomic Statistics and Bioinformatics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.
⁷ Institut für Medizinische Biometrie, Informatik und Epidemiologie, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.
⁸ Institute for Medical Genetics, Stellenbosch University, Cape Town, South Africa.
⁹ Department of Pediatrics, University Hospital Düsseldorf, Düsseldorf, Germany.
¹⁰ Institute for Human Genetics and Genomic Medicine, Medical Faculty, Uniklinik RWTH Aachen University, Aachen, Germany.
¹¹ Core Uni Bioinformatics, Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany.
¹² Department of Pediatrics, Charité - Universitätsmedizin Berlin, Berlin, Germany.
¹³ Department of Pediatric Neurology, Charité - Universitätsmedizin Berlin, Berlin, Germany.
¹⁴ Center for Chronically Sick Children, Charité - Universitätsmedizin Berlin, Berlin, Germany.
¹⁵ Institute of Cell and Neurobiology, Charité - Universitätsmedizin Berlin, Berlin, Germany.
¹⁶ Department of Human Genetics, Ruhr University Bochum, Bochum, Germany.
¹⁷ Department of Pediatrics Bochum and CeSER, Ruhr University Bochum, Bochum, Germany.
¹⁸ Center for Rare Diseases, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.
¹⁹ Department of Neurology, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.
²⁰ Clinic for Internal Medicine III, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.
²¹ University Center for Rare Diseases, University Hospital Carl Gustav Carus, Dresden, Germany.
²² Department of Pediatrics, University Hospital Carl Gustav Carus, Dresden, Germany.
²³ Institute for Clinical Genetics, University Hospital Carl Gustav Carus, Dresden, Germany.
²⁴ Department of Neurology, University Hospital Carl Gustav Carus, Dresden, Germany.
²⁵ Institute of Human Genetics, University Hospital Essen, Essen, Germany.
²⁶ Department of Pediatrics II, University Hospital Essen, Essen, Germany.
²⁷ Department of Neurology, University Hospital Halle, Halle, Germany.
²⁸ Institute of Human Genetics, University Hospital Hamburg-Eppendorf, Hamburg, Germany.
²⁹ Martin Zeitz Center for Rare Diseases, University Hospital Hamburg-Eppendorf, Hamburg, Germany.
³⁰ Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.
³¹ I. Department of Medicine, University Hospital Hamburg-Eppendorf, Hamburg, Germany.
³² Department of Pediatrics, University Hospital Hamburg-Eppendorf, Hamburg, Germany.
³³ Center for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
³⁴ Institute of Human Genetics, University Hospital Schleswig-Holstein, Lübeck, Germany.
³⁵ Center for Rare Diseases, University Hospital Schleswig-Holstein, Lübeck, Germany.
³⁶ Department of Neurology, University Hospital Schleswig-Holstein, Lübeck, Germany.
³⁷ Institute for Neurogenetics, University Hospital Schleswig-Holstein, Lübeck, Germany.
³⁸ Institute of Systems Motor Science, University of Lübeck, Lübeck, Germany.
³⁹ Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
⁴⁰ Institute of Human Genetics, University of Lübeck, Lübeck, Germany.
⁴¹ Department of Human Genetics, University Hospital Schleswig-Holstein, Lübeck, Germany.
⁴² Department of Nephrology, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany.
⁴³ Institute of Neurogenomics, Helmholtz Zentrum München, München, Germany.
⁴⁴ Department of Neurology, Medical University of Vienna, Wien, Austria.
⁴⁵ Department of Paediatrics, Adolescent Medicine and Neonatology, München, Germany.
⁴⁶ Dr. von Hauner Children's Hospital, University Hospital Munich, München, Germany.
⁴⁷ Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
⁴⁸ Center for Rare Diseases, 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.

^# Contributed equally.

PMID: 40555819
PMCID: PMC12283349
DOI: 10.1038/s41588-025-02271-6

Published Erratum

Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings

Axel Schmidt et al. Nat Genet. 2025 Jul.

. 2025 Jul;57(7):1790-1791.

doi: 10.1038/s41588-025-02271-6.

Authors

Affiliations

¹ Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.
² Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.
³ BIH Charité Clinician Scientist Program, Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany.
⁴ Institute for Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
⁵ Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany.
⁶ Institute for Genomic Statistics and Bioinformatics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.
⁷ Institut für Medizinische Biometrie, Informatik und Epidemiologie, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.
⁸ Institute for Medical Genetics, Stellenbosch University, Cape Town, South Africa.
⁹ Department of Pediatrics, University Hospital Düsseldorf, Düsseldorf, Germany.
¹⁰ Institute for Human Genetics and Genomic Medicine, Medical Faculty, Uniklinik RWTH Aachen University, Aachen, Germany.
¹¹ Core Uni Bioinformatics, Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany.
¹² Department of Pediatrics, Charité - Universitätsmedizin Berlin, Berlin, Germany.
¹³ Department of Pediatric Neurology, Charité - Universitätsmedizin Berlin, Berlin, Germany.
¹⁴ Center for Chronically Sick Children, Charité - Universitätsmedizin Berlin, Berlin, Germany.
¹⁵ Institute of Cell and Neurobiology, Charité - Universitätsmedizin Berlin, Berlin, Germany.
¹⁶ Department of Human Genetics, Ruhr University Bochum, Bochum, Germany.
¹⁷ Department of Pediatrics Bochum and CeSER, Ruhr University Bochum, Bochum, Germany.
¹⁸ Center for Rare Diseases, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.
¹⁹ Department of Neurology, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.
²⁰ Clinic for Internal Medicine III, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.
²¹ University Center for Rare Diseases, University Hospital Carl Gustav Carus, Dresden, Germany.
²² Department of Pediatrics, University Hospital Carl Gustav Carus, Dresden, Germany.
²³ Institute for Clinical Genetics, University Hospital Carl Gustav Carus, Dresden, Germany.
²⁴ Department of Neurology, University Hospital Carl Gustav Carus, Dresden, Germany.
²⁵ Institute of Human Genetics, University Hospital Essen, Essen, Germany.
²⁶ Department of Pediatrics II, University Hospital Essen, Essen, Germany.
²⁷ Department of Neurology, University Hospital Halle, Halle, Germany.
²⁸ Institute of Human Genetics, University Hospital Hamburg-Eppendorf, Hamburg, Germany.
²⁹ Martin Zeitz Center for Rare Diseases, University Hospital Hamburg-Eppendorf, Hamburg, Germany.
³⁰ Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.
³¹ I. Department of Medicine, University Hospital Hamburg-Eppendorf, Hamburg, Germany.
³² Department of Pediatrics, University Hospital Hamburg-Eppendorf, Hamburg, Germany.
³³ Center for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
³⁴ Institute of Human Genetics, University Hospital Schleswig-Holstein, Lübeck, Germany.
³⁵ Center for Rare Diseases, University Hospital Schleswig-Holstein, Lübeck, Germany.
³⁶ Department of Neurology, University Hospital Schleswig-Holstein, Lübeck, Germany.
³⁷ Institute for Neurogenetics, University Hospital Schleswig-Holstein, Lübeck, Germany.
³⁸ Institute of Systems Motor Science, University of Lübeck, Lübeck, Germany.
³⁹ Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
⁴⁰ Institute of Human Genetics, University of Lübeck, Lübeck, Germany.
⁴¹ Department of Human Genetics, University Hospital Schleswig-Holstein, Lübeck, Germany.
⁴² Department of Nephrology, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany.
⁴³ Institute of Neurogenomics, Helmholtz Zentrum München, München, Germany.
⁴⁴ Department of Neurology, Medical University of Vienna, Wien, Austria.
⁴⁵ Department of Paediatrics, Adolescent Medicine and Neonatology, München, Germany.
⁴⁶ Dr. von Hauner Children's Hospital, University Hospital Munich, München, Germany.
⁴⁷ Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
⁴⁸ Center for Rare Diseases, 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.

^# Contributed equally.

PMID: 40555819
PMCID: PMC12283349
DOI: 10.1038/s41588-025-02271-6

No abstract available

PubMed Disclaimer

Erratum for

Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Schmidt A, Danyel M, Grundmann K, Brunet T, Klinkhammer H, Hsieh TC, Engels H, Peters S, Knaus A, Moosa S, Averdunk L, Boschann F, Sczakiel HL, Schwartzmann S, Mensah MA, Pantel JT, Holtgrewe M, Bösch A, Weiß C, Weinhold N, Suter AA, Stoltenburg C, Neugebauer J, Kallinich T, Kaindl AM, Holzhauer S, Bührer C, Bufler P, Kornak U, Ott CE, Schülke M, Nguyen HHP, Hoffjan S, Grasemann C, Rothoeft T, Brinkmann F, Matar N, Sivalingam S, Perne C, Mangold E, Kreiss M, Cremer K, Betz RC, Mücke M, Grigull L, Klockgether T, Spier I, Heimbach A, Bender T, Brand F, Stieber C, Morawiec AM, Karakostas P, Schäfer VS, Bernsen S, Weydt P, Castro-Gomez S, Aziz A, Grobe-Einsler M, Kimmich O, Kobeleva X, Önder D, Lesmann H, Kumar S, Tacik P, Bhasin MA, Incardona P, Lee-Kirsch MA, Berner R, Schuetz C, Körholz J, Kretschmer T, Di Donato N, Schröck E, Heinen A, Reuner U, Hanßke AM, Kaiser FJ, Manka E, Munteanu M, Kuechler A, Cordula K, Hirtz R, Schlapakow E, Schlein C, Lisfeld J, Kubisch C, Herget T, Hempel M, Weiler-Normann C, Ullrich K, Schramm C, Rudolph C, Rillig F, Groffmann M, Muntau A, Tibelius A, Schwaibold EMC, Schaaf CP, Zawada M, Kaufmann L, Hinderhofer K, Okun PM, Kotzaeridou U, Hoffmann GF, Ch… See abstract for full author list ➔ Schmidt A, et al. Nat Genet. 2024 Aug;56(8):1644-1653. doi: 10.1038/s41588-024-01836-1. Epub 2024 Jul 22. Nat Genet. 2024. PMID: 39039281 Free PMC article.

Publication types

Actions

LinkOut - more resources

Full Text Sources
- Nature Publishing Group
- PubMed Central

Save citation to file

Email citation

Add to Collections

Add to My Bibliography

Your saved search

Create a file for external citation management software

Your RSS Feed

Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings

Affiliations

Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings

Authors

Affiliations

Erratum for

Publication types

LinkOut - more resources

Full Text Sources