Publisher Correction: Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses

Steven Laurie, Wouter Steyaert, Elke de Boer, Kiran Polavarapu, Nika Schuermans, Anna K. Sommer, German Demidov, Kornelia Ellwanger, Ida Paramonov, Coline Thomas, Stefan Aretz, Jonathan Baets, Elisa Benetti, Gemma Bullich, Patrick F. Chinnery, Jill Clayton-Smith, Enzo Cohen, Daniel Danis, Jean-Madeleine de Sainte Agathe, Anne-Sophie Denommé-Pichon, Jordi Diaz-Manera, Stephanie Efthymiou, Laurence Faivre, Marcos Fernandez-Callejo, Mallory Freeberg, José Garcia-Pelaez, Lena Guillot-Noel, Tobias B. Haack, Mike Hanna, Holger Hengel, Rita Horvath, Henry Houlden, Adam Jackson, Lennart Johansson, Mridul Johari, Erik-Jan Kamsteeg, Melanie Kellner, Tjitske Kleefstra, Didier Lacombe, Hanns Lochmüller, Estrella López-Martín, Alfons Macaya, Anna Marcé-Grau, Aleš Maver, Heba Morsy, Francesco Muntoni, Francesco Musacchia, Isabelle Nelson, Vincenzo Nigro, Catarina Olimpio, Carla Oliveira, Jaroslava Paulasová Schwabová, Martje G. Pauly, Borut Peterlin, Sophia Peters, Rolph Pfundt, Giulio Piluso, Davide Piscia, Manuel Posada, Selina Reich, Alessandra Renieri, Lukas Ryba, Karolis Šablauskas, Marco Savarese, Ludger Schöls, Leon Schütz, Verena Steinke-Lange, Giovanni Stevanin, Volker Straub, Marc Sturm, Morris A. Swertz, Marco Tartaglia, Iris B. A. W. te Paske, Rachel Thompson, Annalaura Torella, Christina Trainor, Bjarne Udd, Liedewei Van de Vondel, Bart van de Warrenburg, Jeroen van Reeuwijk, Jana Vandrovcova, Antonio Vitobello, Janet Vos, Emílie Vyhnálková, Robin Wijngaard, Carlo Wilke, Doreen William, Jishu Xu, Burcu Yaldiz, Luca Zalatnai, Birte Zurek, , Stefan Aretz, Richarda M. de Voer, José Garcia-Pelaez, Nicoline Hoogerbrugge, Carla Oliveira, Sophia Peters, Anna K. Sommer, Verena Steinke-Lange, Iris B. A. W. te Paske, Doreen William, , Elke de Boer, Jill Clayton-Smith, Jean-Madeleine de Sainte Agathe, Anne-Sophie Denommé-Pichon, Laurence Faivre, Tobias B. Haack, Adam Jackson, Tjitske Kleefstra, Didier Lacombe, Estrella López-Martín, Vincenzo Nigro, Manuel Posada, Alessandra Renieri, Olaf Riess, Lukas Ryba, Annalaura Torella, Alain Verloes, Lisenka E.L.M. Vissers, Antonio Vitobello, , Jonathan Baets, Patrick F. Chinnery, Enzo Cohen, Teresinha Evangelista, Rita Horvath, Henry Houlden, Mridul Johari, Hanns Lochmüller, Francesco Muntoni, Francesco Musacchia, Isabelle Nelson, Vincenzo Nigro, Catarina Olimpio, Giulio Piluso, Kiran Polavarapu, Marco Savarese, Rachel Thompson, Ana Töpf, Annalaura Torella, Bjarne Udd, Liedewei Van de Vondel, Jana Vandrovcova, , Jonathan Baets, Patrick F. Chinnery, Stephanie Efthymiou, Holm Graessner, Lena Guillot-Noel, Tobias B. Haack, Mike Hanna, Holger Hengel, Rita Horvath, Henry Houlden, Erik-Jan Kamsteeg, Melanie Kellner, Katja Lohmann, Alfons Macaya, Anna Marcé-Grau, Aleš Maver, Heba Morsy, Martje G. Pauly, Borut Peterlin, Selina Reich, Olaf Riess, Ludger Schöls, Rebecca Schüle, Nika Schuermans, Giovanni Stevanin, Matthis Synofzik, Nicoline Hoogerbrugge, Bart van de Warrenburg, Jana Vandrovcova, Carlo Wilke, Jishu Xu, , Stefan Aretz, Jonathan Baets, Sergi Beltran, Elisa Benetti, Christian Gilissen, Anthony J. Brookes, Han G. Brunner, Gemma Bullich, Patrick F. Chinnery, Jill Clayton-Smith, Enzo Cohen, Daniel Danis, Holm Graessner, German Demidov, Anne-Sophie Denommé-Pichon, Jordi Diaz-Manera, Stephanie Efthymiou, Kornelia Ellwanger, Teresinha Evangelista, Laurence Faivre, Marcos Fernandez-Callejo, Mallory Freeberg, José Garcia-Pelaez, Christian Gilissen, Holm Graessner, Lena Guillot-Noel, Tobias B. Haack, Mike Hanna, Holger Hengel, Alexander Hoischen
Nature Medicine. 2025-06-19; 31(8): 2819-2820
DOI: 10.1038/s41591-025-03754-z

1. Nat Med. 2025 Aug;31(8):2819-2820. doi: 10.1038/s41591-025-03754-z.

Publisher Correction: Genomic reanalysis of a pan-European rare-disease resource
yields new diagnoses.

Laurie S(#)(1)(2), Steyaert W(#)(3)(4), de Boer E(#)(3)(5), Polavarapu K(#)(6),
Schuermans N(#)(7)(8)(9), Sommer AK(#)(10), Demidov G(11), Ellwanger K(11),
Paramonov I(1)(2), Thomas C(12), Aretz S(10)(13), Baets J(14)(15)(16), Benetti
E(17)(18), Bullich G(1)(2), Chinnery PF(19)(20), Clayton-Smith J(21)(22), Cohen
E(23), Danis D(24), de Sainte Agathe JM(25), Denommé-Pichon AS(26)(27),
Diaz-Manera J(28), Efthymiou S(29), Faivre L(26)(30)(31)(32)(33),
Fernandez-Callejo M(1)(2), Freeberg M(12), Garcia-Pelaez J(34)(35)(36),
Guillot-Noel L(37), Haack TB(11), Hanna M(38), Hengel H(39)(40), Horvath R(19),
Houlden H(29), Jackson A(21)(22), Johansson L(41), Johari M(42), Kamsteeg EJ(3),
Kellner M(39)(40), Kleefstra T(3)(5)(43)(44), Lacombe D(45)(46), Lochmüller
H(1)(6)(47)(48)(49), López-Martín E(50), Macaya A(51), Marcé-Grau A(51), Maver
A(52), Morsy H(29)(53), Muntoni F(54)(55), Musacchia F(56)(57), Nelson I(23),
Nigro V(56)(57), Olimpio C(19)(58), Oliveira C(35)(36)(37), Paulasová Schwabová
J(59), Pauly MG(60)(61)(62), Peterlin B(52), Peters S(10), Pfundt R(3)(5),
Piluso G(56), Piscia D(1)(2), Posada M(50), Reich S(39)(40), Renieri
A(17)(18)(63), Ryba L(64), Šablauskas K(3)(65), Savarese M(42), Schöls
L(39)(40), Schütz L(11), Steinke-Lange V(66)(67), Stevanin G(37), Straub V(28),
Sturm M(11), Swertz MA(41), Tartaglia M(68), Te Paske IBAW(3)(4), Thompson R(6),
Torella A(56)(57), Trainor C(28), Udd B(42)(69)(70), Van de Vondel
L(14)(15)(71), van de Warrenburg B(5)(72), van Reeuwijk J(3)(5), Vandrovcova
J(29), Vitobello A(26)(27), Vos J(3)(4), Vyhnálková E(64), Wijngaard R(3)(4),
Wilke C(39)(40), William D(73)(74), Xu J(11)(39)(40), Yaldiz B(3), Zalatnai
L(1)(2), Zurek B(11); Solve-RD DITF-GENTURIS; Solve-RD DITF-ITHACA; Solve-RD
DITF-EURO-NMD; Solve-RD DITF-RND; Solve-RD consortium; Brookes AJ(75),
Evangelista T(23), Gilissen C(3)(4), Graessner H(11)(76), Hoogerbrugge N(3)(4),
Ossowski S(11)(77), Riess O(11)(76), Schüle R(39)(40), Synofzik M(39)(40),
Verloes A(78)(79), Matalonga L(1)(2), Brunner HG(3)(5)(80), Lohmann K(61), de
Voer RM(3)(4), Töpf A(28), Vissers LELM(3)(5), Beltran S(81)(82), Hoischen
A(83)(84)(85).

Collaborators: Aretz S, de Voer RM, Garcia-Pelaez J, Hoogerbrugge N, Oliveira C,
Peters S, Sommer AK, Steinke-Lange V, Te Paske IBAW, William D, de Boer E,
Clayton-Smith J, de Sainte Agathe JM, Denommé-Pichon AS, Faivre L, Haack TB,
Jackson A, Kleefstra T, Lacombe D, López-Martín E, Nigro V, Posada M, Renieri A,
Riess O, Ryba L, Torella A, Verloes A, Vissers LELM, Vitobello A, Baets J,
Chinnery PF, Cohen E, Evangelista T, Horvath R, Houlden H, Johari M, Lochmüller
H, Muntoni F, Musacchia F, Nelson I, Nigro V, Olimpio C, Piluso G, Polavarapu K,
Savarese M, Thompson R, Töpf A, Torella A, Udd B, Van de Vondel L, Vandrovcova
J, Baets J, Chinnery PF, Efthymiou S, Graessner H, Guillot-Noel L, Haack TB,
Hanna M, Hengel H, Horvath R, Houlden H, Kamsteeg EJ, Kellner M, Lohmann K,
Macaya A, Marcé-Grau A, Maver A, Morsy H, Pauly MG, Peterlin B, Reich S, Riess
O, Schöls L, Schüle R, Schuermans N, Stevanin G, Synofzik M, Hoogerbrugge N, van
de Warrenburg B, Vandrovcova J, Wilke C, Xu J, Aretz S, Baets J, Beltran S,
Benetti E, Gilissen C, Brookes AJ, Brunner HG, Bullich G, Chinnery PF,
Clayton-Smith J, Cohen E, Danis D, Graessner H, Demidov G, Denommé-Pichon AS,
Diaz-Manera J, Efthymiou S, Ellwanger K, Evangelista T, Faivre L,
Fernandez-Callejo M, Freeberg M, Garcia-Pelaez J, Gilissen C, Graessner H,
Guillot-Noel L, Haack TB, Hanna M, Hengel H, Hoischen A, Hoogerbrugge N, Horvath
R, Houlden H, Jackson A, Johansson L, Johari M, Kamsteeg EJ, Kellner M,
Kleefstra T, Lacombe D, Laurie S, Lochmüller H, Lohmann K, López-Martín E,
Macaya A, Marcé-Grau A, Matalonga L, Maver A, Morsy H, Muntoni F, Musacchia F,
Nelson I, Nigro V, Oliveira C, Ossowski S, Paramonov I, Pauly MG, Peterlin B,
Peters S, Piluso G, Piscia D, Polavarapu K, Posada M, Renieri A, Riess O,
Šablauskas K, Savarese M, Schöls L, Schüle R, Schuermans N, Sommer AK,
Steinke-Lange V, Stevanin G, Steyaert W, Straub V, Sturm M, Swertz MA, Synofzik
M, Tartaglia M, Evangelista T, Thomas C, Thompson R, Töpf A, Torella A, Udd B,
Hoogerbrugge N, Ossowski S, Vandrovcova J, Verloes A, Töpf A, Vitobello A,
Brookes AJ, Wilke C, Xu J, Yaldiz B, Zurek B.

Author information:
(1)Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.
(2)Universitat de Barcelona (UB), Barcelona, Spain.
(3)Department of Human Genetics, Radboud University Medical Center, Nijmegen,
the Netherlands.
(4)Radboud Institute for Medical Innovation, Nijmegen, the Netherlands.
(5)Donders Institute for Brain, Cognition and Behaviour, Radboud University
Medical Center, Nijmegen, the Netherlands.
(6)Children’s Hospital of Eastern Ontario Research Institute, University of
Ottawa, Ottawa, Ontario, Canada.
(7)Program for Undiagnosed Rare Diseases (UD-PrOZA), Ghent University Hospital,
Ghent, Belgium.
(8)Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences,
Ghent University, Ghent, Belgium.
(9)Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
(10)Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn,
Germany.
(11)Institute of Medical Genetics and Applied Genomics, University of Tübingen,
Tübingen, Germany.
(12)European Bioinformatics Institute, European Molecular Biology Laboratory,
Cambridge, UK.
(13)Center for Hereditary Tumor Syndromes, University Hospital Bonn, Bonn,
Germany.
(14)Translational Neurosciences, Faculty of Medicine and Health Sciences,
University of Antwerp, Antwerp, Belgium.
(15)Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of
Antwerp, Antwerp, Belgium.
(16)Neuromuscular Reference Centre, Department of Neurology, Antwerp University
Hospital, Antwerp, Belgium.
(17)Med Biotech Hub and Competence Center, Department of Medical
Biotechnologies, University of Siena, Siena, Italy.
(18)Medical Genetics, University of Siena, Siena, Italy.
(19)Department of Clinical Neurosciences, University of Cambridge, Cambridge,
UK.
(20)Medical Research Council Mitochondrial Biology Unit, University of
Cambridge, Cambridge, UK.
(21)Division of Evolution, Infection and Genomics, School of Biological
Sciences, Faculty of Biology, Medicine and Health, University of Manchester,
Manchester, UK.
(22)Manchester Centre for Genomic Medicine, St Mary’s Hospital, Manchester
University Hospitals NHS Foundation Trust, Health Innovation Manchester,
Manchester, UK.
(23)Centre de Recherche en Myologie, Sorbonne Université, Inserm, Institut de
Myologie, Paris, France.
(24)Jackson Laboratory for Genomic Medicine, Farmington, CT, USA.
(25)Department of Genetics, Assistance Publique-Hôpitaux de Paris, Sorbonne
Université, Pitié-Salpêtrière University Hospital, Paris, France.
(26)University of Burgundy, Dijon, France.
(27)Functional Unit for Diagnostic Innovation in Rare Diseases, Dijon Bourgogne
University Hospital, Dijon, France.
(28)John Walton Muscular Dystrophy Research Centre, Translational and Clinical
Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation
Trust, Newcastle upon Tyne, UK.
(29)Department of Neuromuscular Diseases, UCL Queen Square Institute of
Neurology, London, UK.
(30)Genetics Department, Dijon University Hospital, Dijon, France.
(31)Centre of Reference for Rare Diseases: Development Disorders and
Malformation Syndromes, Dijon University Hospital, Dijon, France.
(32)University of Burgundy-Franche Comté, Dijon, France.
(33)GIMI institute, Dijon University Hospital, Dijon, France.
(34)Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto,
Portugal.
(35)IPATIMUP – Institute of Molecular Pathology and Immunology of the University
of Porto, Porto, Portugal.
(36)Faculty of Medicine, University of Porto, Porto, Portugal.
(37)Institut du Cerveau, Sorbonne University, Paris, France.
(38)MRC Centre for Neuromuscular Diseases and National Hospital for Neurology
and Neurosurgery, UCL Queen Square Institute of Neurology, London, UK.
(39)Department of Neurodegeneration, Hertie Institute for Clinical Brain
Research (HIH), University of Tübingen, Tübingen, Germany.
(40)German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.
(41)Department of Genetics, Genomics Coordination Center, University Medical
Center Groningen, University of Groningen, Groningen, the Netherlands.
(42)Folkhälsan Research Centre and Medicum, University of Helsinki, Helsinki,
Finland.
(43)Department of Clinical Genetics, Erasmus MC, Rotterdam, the Netherlands.
(44)Center of Excellence for Neuropsychiatry, Vincent van Gogh Institute for
Psychiatry, Venray, the Netherlands.
(45)MRGM, Maladies Rares: Génétique et Métabolisme, INSERM U1211, Université de
Bordeaux, Bordeaux, France.
(46)Service de Génétique Médicale, Centre Hospitalier Universitaire de Bordeaux,
Bordeaux, France.
(47)Department of Neuropediatrics and Muscle Disorders, Medical Center, Faculty
of Medicine, University of Freiburg, Freiburg, Germany.
(48)Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa,
Ontario, Canada.
(49)Brain and Mind Research Institute, University of Ottawa, Ottawa, Ontario,
Canada.
(50)Institute of Rare Diseases Research, Spanish Undiagnosed Rare Diseases Cases
Program (SpainUDP) & Undiagnosed Diseases Network International (UDNI),
Instituto de Salud Carlos III, Madrid, Spain.
(51)Pediatric Neurology Research Group, Vall d’Hebron Research Institute,
Universitat Autònoma de Barcelona, Barcelona, Spain.
(52)Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana,
Ljubljana, Slovenia.
(53)Department of Human Genetics, Medical Research Institute, Alexandria
University, Alexandria, Egypt.
(54)Dubowitz Neuromuscular Centre, UCL Great Ormond Street Hospital, London, UK.
(55)NIHR Great Ormond Street Hospital Biomedical Research Centre, London, UK.
(56)Dipartimento di Medicina di Precisione, Università degli Studi della
Campania « Luigi Vanvitelli », Naples, Italy.
(57)Telethon Institute of Genetics and Medicine, Pozzuoli, Italy.
(58)East Anglian Medical Genetics Service, Cambridge University Hospitals NHS
Foundation Trust, Cambridge, UK.
(59)Centre of Hereditary Ataxia, Department of Neurology, Charles University
Prague-2nd Faculty of Medicine and University Hospital Motol, Prague, Czech
Republic.
(60)Institute of Systems Motor Science, University of Lübeck, Lübeck, Germany.
(61)Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
(62)Department of Neurology, University Hospital Schleswig Holstein, Lübeck,
Germany.
(63)Genetica Medica, Azienda Ospedaliero-Universitaria Senese, Siena, Italy.
(64)Department of Biology and Medical Genetics, Second Faculty of Medicine,
Charles University and Motol University Hospital, Prague, Czech Republic.
(65)Institute of Data Science and Digital Technologies, Vilnius University,
Vilnius, Lithuania.
(66)Medizinische Klinik und Poliklinik IV – Campus Innenstadt, Klinikum der
Universität München, Munich, Germany.
(67)MGZ – Medical Genetics Center, Munich, Germany.
(68)Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino
Gesù, IRCCS, Rome, Italy.
(69)Tampere Neuromuscular Center, Tampere, Finland.
(70)Vasa Central Hospital, Vaasa, Finland.
(71)Peripheral Neuropathy Research Group, University of Antwerp, Antwerp,
Belgium.
(72)Department of Neurology, Radboud University Medical Center, Nijmegen, the
Netherlands.
(73)Institute of Clinical Genetics, University Hospital Carl Gustav Carus,
Technical University Dresden, Dresden, Germany.
(74)National Center for Tumor Diseases (NCT), Dresden, Germany.
(75)Department of Genetics and Genome Biology, University of Leicester,
Leicester, UK.
(76)Centre for Rare Diseases, University of Tübingen, Tübingen, Germany.
(77)NGS Competence Center Tübingen (NCCT), University of Tübingen, Tübingen,
Germany.
(78)Dept of Genetics, Assistance Publique-Hôpitaux de Paris, Université de
Paris, Robert DEBRE University Hospital, Paris, France.
(79)INSERM UMR 1141 « NeuroDiderot », Hôpital Robert DEBRE, Paris, France.
(80)Department of Clinical Genetics, Maastricht University Medical Centre and
GROW School for Development and Oncology, University of Maastricht, Maastricht,
the Netherlands.
(81)Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.
.
(82)Departament de Genètica, Microbiologia i Estadística, Facultat de Biologia,
Universitat de Barcelona (UB), Barcelona, Spain. .
(83)Department of Human Genetics, Radboud University Medical Center, Nijmegen,
the Netherlands. .
(84)Radboud Institute for Medical Innovation, Nijmegen, the Netherlands.
.
(85)Department of Internal Medicine and Radboud Center for Infectious Diseases
(RCI), Radboud University Medical Center, Nijmegen, the Netherlands.
.
(#)Contributed equally