Published Erratum
doi: 10.1038/s41591-025-03754-z.
Publisher Correction: Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses
Steven Laurie #
1
2
, Wouter Steyaert #
3
4
, Elke de Boer #
3
5
, Kiran Polavarapu #
6
, Nika Schuermans #
7
8
9
, Anna K Sommer #
10
, German Demidov
11
, Kornelia Ellwanger
11
, Ida Paramonov
1
2
, Coline Thomas
12
, Stefan Aretz
10
13
, Jonathan Baets
14
15
16
, Elisa Benetti
17
18
, Gemma Bullich
1
2
, Patrick F Chinnery
19
20
, Jill Clayton-Smith
21
22
, Enzo Cohen
23
, Daniel Danis
24
, Jean-Madeleine de Sainte Agathe
25
, Anne-Sophie Denommé-Pichon
26
27
, Jordi Diaz-Manera
28
, Stephanie Efthymiou
29
, Laurence Faivre
26
30
31
32
33
, Marcos Fernandez-Callejo
1
2
, Mallory Freeberg
12
, José Garcia-Pelaez
34
35
36
, Lena Guillot-Noel
37
, Tobias B Haack
11
, Mike Hanna
38
, Holger Hengel
39
40
, Rita Horvath
19
, Henry Houlden
29
, Adam Jackson
21
22
, Lennart Johansson
41
, Mridul Johari
42
, Erik-Jan Kamsteeg
3
, Melanie Kellner
39
40
, Tjitske Kleefstra
3
5
43
44
, Didier Lacombe
45
46
, Hanns Lochmüller
1
6
47
48
49
, Estrella López-Martín
50
, Alfons Macaya
51
, Anna Marcé-Grau
51
, Aleš Maver
52
, Heba Morsy
29
53
, Francesco Muntoni
54
55
, Francesco Musacchia
56
57
, Isabelle Nelson
23
, Vincenzo Nigro
56
57
, Catarina Olimpio
19
58
, Carla Oliveira
35
36
37
, Jaroslava Paulasová Schwabová
59
, Martje G Pauly
60
61
62
, Borut Peterlin
52
, Sophia Peters
10
, Rolph Pfundt
3
5
, Giulio Piluso
56
, Davide Piscia
1
2
, Manuel Posada
50
, Selina Reich
39
40
, Alessandra Renieri
17
18
63
, Lukas Ryba
64
, Karolis Šablauskas
3
65
, Marco Savarese
42
, Ludger Schöls
39
40
, Leon Schütz
11
, Verena Steinke-Lange
66
67
, Giovanni Stevanin
37
, Volker Straub
28
, Marc Sturm
11
, Morris A Swertz
41
, Marco Tartaglia
68
, Iris B A W Te Paske
3
4
, Rachel Thompson
6
, Annalaura Torella
56
57
, Christina Trainor
28
, Bjarne Udd
42
69
70
, Liedewei Van de Vondel
14
15
71
, Bart van de Warrenburg
5
72
, Jeroen van Reeuwijk
3
5
, Jana Vandrovcova
29
, Antonio Vitobello
26
27
, Janet Vos
3
4
, Emílie Vyhnálková
64
, Robin Wijngaard
3
4
, Carlo Wilke
39
40
, Doreen William
73
74
, Jishu Xu
11
39
40
, Burcu Yaldiz
3
, Luca Zalatnai
1
2
, Birte Zurek
11
; Solve-RD DITF-GENTURIS; Solve-RD DITF-ITHACA; Solve-RD DITF-EURO-NMD; Solve-RD DITF-RND; Solve-RD consortium; Anthony J Brookes
75
, Teresinha Evangelista
23
, Christian Gilissen
3
4
, Holm Graessner
11
76
, Nicoline Hoogerbrugge
3
4
, Stephan Ossowski
11
77
, Olaf Riess
11
76
, Rebecca Schüle
39
40
, Matthis Synofzik
39
40
, Alain Verloes
78
79
, Leslie Matalonga
1
2
, Han G Brunner
3
5
80
, Katja Lohmann
61
, Richarda M de Voer
3
4
, Ana Töpf
28
, Lisenka E L M Vissers
3
5
, Sergi Beltran
81
82
, Alexander Hoischen
83
84
85
Collaborators,
Affiliations
Collaborators
- Solve-RD DITF-GENTURIS:
-
Solve-RD DITF-ITHACA:
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
-
Solve-RD DITF-EURO-NMD:
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
-
Solve-RD DITF-RND:
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
-
Solve-RD consortium:
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, Nicoline Hoogerbrugge, Rita Horvath, Henry Houlden, Adam Jackson, Lennart Johansson, Mridul Johari, Erik-Jan Kamsteeg, Melanie Kellner, Tjitske Kleefstra, Didier Lacombe, Steven Laurie, Hanns Lochmüller, Katja Lohmann, Estrella López-Martín, Alfons Macaya, Anna Marcé-Grau, Leslie Matalonga, Aleš Maver, Heba Morsy, Francesco Muntoni, Francesco Musacchia, Isabelle Nelson, Vincenzo Nigro, Carla Oliveira, Stephan Ossowski, Ida Paramonov, Martje G Pauly, Borut Peterlin, Sophia Peters, Giulio Piluso, Davide Piscia, Kiran Polavarapu, Manuel Posada, Alessandra Renieri, Olaf Riess, Karolis Šablauskas, Marco Savarese, Ludger Schöls, Rebecca Schüle, Nika Schuermans, Anna K Sommer, Verena Steinke-Lange, Giovanni Stevanin, Wouter Steyaert, Volker Straub, Marc Sturm, Morris A Swertz, Matthis Synofzik, Marco Tartaglia, Teresinha Evangelista, Coline Thomas, Rachel Thompson, Ana Töpf, Annalaura Torella, Bjarne Udd, Nicoline Hoogerbrugge, Stephan Ossowski, Jana Vandrovcova, Alain Verloes, Ana Töpf, Antonio Vitobello, Anthony J Brookes, Carlo Wilke, Jishu Xu, Burcu Yaldiz, Birte Zurek
Affiliations
- 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. sergi.beltran@cnag.eu.
- 82 Departament de Genètica, Microbiologia i Estadística, Facultat de Biologia, Universitat de Barcelona (UB), Barcelona, Spain. sergi.beltran@cnag.eu.
- 83 Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands. alexander.hoischen@radboudumc.nl.
- 84 Radboud Institute for Medical Innovation, Nijmegen, the Netherlands. alexander.hoischen@radboudumc.nl.
- 85 Department of Internal Medicine and Radboud Center for Infectious Diseases (RCI), Radboud University Medical Center, Nijmegen, the Netherlands. alexander.hoischen@radboudumc.nl.
# Contributed equally.
- PMID: 40537530
- PMCID: PMC12353780
- DOI: 10.1038/s41591-025-03754-z
Item in Clipboard
Published Erratum
Publisher Correction: Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses
Steven Laurie et al.
Nat Med.
2025 Aug.
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Format
doi: 10.1038/s41591-025-03754-z.
Authors
Steven Laurie #
1
2
, Wouter Steyaert #
3
4
, Elke de Boer #
3
5
, Kiran Polavarapu #
6
, Nika Schuermans #
7
8
9
, Anna K Sommer #
10
, German Demidov
11
, Kornelia Ellwanger
11
, Ida Paramonov
1
2
, Coline Thomas
12
, Stefan Aretz
10
13
, Jonathan Baets
14
15
16
, Elisa Benetti
17
18
, Gemma Bullich
1
2
, Patrick F Chinnery
19
20
, Jill Clayton-Smith
21
22
, Enzo Cohen
23
, Daniel Danis
24
, Jean-Madeleine de Sainte Agathe
25
, Anne-Sophie Denommé-Pichon
26
27
, Jordi Diaz-Manera
28
, Stephanie Efthymiou
29
, Laurence Faivre
26
30
31
32
33
, Marcos Fernandez-Callejo
1
2
, Mallory Freeberg
12
, José Garcia-Pelaez
34
35
36
, Lena Guillot-Noel
37
, Tobias B Haack
11
, Mike Hanna
38
, Holger Hengel
39
40
, Rita Horvath
19
, Henry Houlden
29
, Adam Jackson
21
22
, Lennart Johansson
41
, Mridul Johari
42
, Erik-Jan Kamsteeg
3
, Melanie Kellner
39
40
, Tjitske Kleefstra
3
5
43
44
, Didier Lacombe
45
46
, Hanns Lochmüller
1
6
47
48
49
, Estrella López-Martín
50
, Alfons Macaya
51
, Anna Marcé-Grau
51
, Aleš Maver
52
, Heba Morsy
29
53
, Francesco Muntoni
54
55
, Francesco Musacchia
56
57
, Isabelle Nelson
23
, Vincenzo Nigro
56
57
, Catarina Olimpio
19
58
, Carla Oliveira
35
36
37
, Jaroslava Paulasová Schwabová
59
, Martje G Pauly
60
61
62
, Borut Peterlin
52
, Sophia Peters
10
, Rolph Pfundt
3
5
, Giulio Piluso
56
, Davide Piscia
1
2
, Manuel Posada
50
, Selina Reich
39
40
, Alessandra Renieri
17
18
63
, Lukas Ryba
64
, Karolis Šablauskas
3
65
, Marco Savarese
42
, Ludger Schöls
39
40
, Leon Schütz
11
, Verena Steinke-Lange
66
67
, Giovanni Stevanin
37
, Volker Straub
28
, Marc Sturm
11
, Morris A Swertz
41
, Marco Tartaglia
68
, Iris B A W Te Paske
3
4
, Rachel Thompson
6
, Annalaura Torella
56
57
, Christina Trainor
28
, Bjarne Udd
42
69
70
, Liedewei Van de Vondel
14
15
71
, Bart van de Warrenburg
5
72
, Jeroen van Reeuwijk
3
5
, Jana Vandrovcova
29
, Antonio Vitobello
26
27
, Janet Vos
3
4
, Emílie Vyhnálková
64
, Robin Wijngaard
3
4
, Carlo Wilke
39
40
, Doreen William
73
74
, Jishu Xu
11
39
40
, Burcu Yaldiz
3
, Luca Zalatnai
1
2
, Birte Zurek
11
; Solve-RD DITF-GENTURIS; Solve-RD DITF-ITHACA; Solve-RD DITF-EURO-NMD; Solve-RD DITF-RND; Solve-RD consortium; Anthony J Brookes
75
, Teresinha Evangelista
23
, Christian Gilissen
3
4
, Holm Graessner
11
76
, Nicoline Hoogerbrugge
3
4
, Stephan Ossowski
11
77
, Olaf Riess
11
76
, Rebecca Schüle
39
40
, Matthis Synofzik
39
40
, Alain Verloes
78
79
, Leslie Matalonga
1
2
, Han G Brunner
3
5
80
, Katja Lohmann
61
, Richarda M de Voer
3
4
, Ana Töpf
28
, Lisenka E L M Vissers
3
5
, Sergi Beltran
81
82
, Alexander Hoischen
83
84
85
Collaborators
- Solve-RD DITF-GENTURIS:
-
Solve-RD DITF-ITHACA:
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
-
Solve-RD DITF-EURO-NMD:
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
-
Solve-RD DITF-RND:
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
-
Solve-RD consortium:
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, Nicoline Hoogerbrugge, Rita Horvath, Henry Houlden, Adam Jackson, Lennart Johansson, Mridul Johari, Erik-Jan Kamsteeg, Melanie Kellner, Tjitske Kleefstra, Didier Lacombe, Steven Laurie, Hanns Lochmüller, Katja Lohmann, Estrella López-Martín, Alfons Macaya, Anna Marcé-Grau, Leslie Matalonga, Aleš Maver, Heba Morsy, Francesco Muntoni, Francesco Musacchia, Isabelle Nelson, Vincenzo Nigro, Carla Oliveira, Stephan Ossowski, Ida Paramonov, Martje G Pauly, Borut Peterlin, Sophia Peters, Giulio Piluso, Davide Piscia, Kiran Polavarapu, Manuel Posada, Alessandra Renieri, Olaf Riess, Karolis Šablauskas, Marco Savarese, Ludger Schöls, Rebecca Schüle, Nika Schuermans, Anna K Sommer, Verena Steinke-Lange, Giovanni Stevanin, Wouter Steyaert, Volker Straub, Marc Sturm, Morris A Swertz, Matthis Synofzik, Marco Tartaglia, Teresinha Evangelista, Coline Thomas, Rachel Thompson, Ana Töpf, Annalaura Torella, Bjarne Udd, Nicoline Hoogerbrugge, Stephan Ossowski, Jana Vandrovcova, Alain Verloes, Ana Töpf, Antonio Vitobello, Anthony J Brookes, Carlo Wilke, Jishu Xu, Burcu Yaldiz, Birte Zurek
Affiliations
- 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. sergi.beltran@cnag.eu.
- 82 Departament de Genètica, Microbiologia i Estadística, Facultat de Biologia, Universitat de Barcelona (UB), Barcelona, Spain. sergi.beltran@cnag.eu.
- 83 Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands. alexander.hoischen@radboudumc.nl.
- 84 Radboud Institute for Medical Innovation, Nijmegen, the Netherlands. alexander.hoischen@radboudumc.nl.
- 85 Department of Internal Medicine and Radboud Center for Infectious Diseases (RCI), Radboud University Medical Center, Nijmegen, the Netherlands. alexander.hoischen@radboudumc.nl.
# Contributed equally.
- PMID: 40537530
- PMCID: PMC12353780
- DOI: 10.1038/s41591-025-03754-z
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Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.Laurie S, Steyaert W, de Boer E, Polavarapu K, Schuermans N, Sommer AK, Demidov G, Ellwanger K, Paramonov I, Thomas C, Aretz S, Baets J, Benetti E, Bullich G, Chinnery PF, Clayton-Smith J, Cohen E, Danis D, de Sainte Agathe JM, Denommé-Pichon AS, Diaz-Manera J, Efthymiou S, Faivre L, Fernandez-Callejo M, Freeberg M, Garcia-Pelaez J, Guillot-Noel L, Haack TB, Hanna M, Hengel H, Horvath R, Houlden H, Jackson A, Johansson L, Johari M, Kamsteeg EJ, Kellner M, Kleefstra T, Lacombe D, Lochmüller H, López-Martín E, Macaya A, Marcé-Grau A, Maver A, Morsy H, Muntoni F, Musacchia F, Nelson I, Nigro V, Olimpio C, Oliveira C, Paulasová Schwabová J, Pauly MG, Peterlin B, Peters S, Pfundt R, Piluso G, Piscia D, Posada M, Reich S, Renieri A, Ryba L, Šablauskas K, Savarese M, Schöls L, Schütz L, Steinke-Lange V, Stevanin G, Straub V, Sturm M, Swertz MA, Tartaglia M, Te Paske IBAW, Thompson R, Torella A, Trainor C, Udd B, Van de Vondel L, van de Warrenburg B, van Reeuwijk J, Vandrovcova J, Vitobello A, Vos J, Vyhnálková E, Wijngaard R, Wilke C, William D, Xu J, Yaldiz B, Zalatnai L, Zurek B; Solve-RD DITF-GENTURIS; Solve-RD DITF-ITHACA; Solve-RD DITF-EURO-NMD; Solve-RD DITF-RND; Solve-RD consortiu… See abstract for full author list ➔ Laurie S, et al. Nat Med. 2025 Feb;31(2):478-489. doi: 10.1038/s41591-024-03420-w. Epub 2025 Jan 17. Nat Med. 2025. PMID: 39825153 Free PMC article.
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