About the Authors
- Rocio Acuna-Hidalgo
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Contributed equally to this work with: Rocio Acuna-Hidalgo, Pelagia Deriziotis
Affiliation Department of Human Genetics, Radboud Institute of Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands
- Pelagia Deriziotis
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Contributed equally to this work with: Rocio Acuna-Hidalgo, Pelagia Deriziotis
Affiliation Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands
- Marloes Steehouwer
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Affiliation Department of Human Genetics, Radboud Institute of Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands
- Christian Gilissen
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Affiliations Department of Human Genetics, Radboud Institute of Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands, Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, The Netherlands
- Sarah A. Graham
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Affiliation Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands
- Sipko van Dam
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Affiliation University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, the Netherlands
- Julie Hoover-Fong
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Affiliation McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland, United States of America
- Aida B. Telegrafi
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Affiliation GeneDx, Gaithersburg, Maryland, United States of America
- Anne Destree
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Affiliation Institute of Pathology and Genetics (IPG), Gosselies, Belgium
- Robert Smigiel
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Affiliation Department of Pediatrics and Rare Disorders, Medical University, Wroclaw, Poland
- Lindsday A. Lambie
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Affiliation Division of Human Genetics, National Health Laboratory Service and School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa
- Hülya Kayserili
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Affiliation Medical Genetics Department, Koç University School of Medicine (KUSOM), İstanbul, Turkey
- Umut Altunoglu
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Affiliation Medical Genetics Department, İstanbul Medical Faculty, İstanbul University, İstanbul, Turkey
- Elisabetta Lapi
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Affiliation Medical Genetics Unit, Anna Meyer Children's University Hospital, Florence, Italy
- Maria Luisa Uzielli
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Affiliation University of Florence, Genetic Science, Firenze, Italy
- Mariana Aracena
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Affiliation División de Pediatría, Pontificia Universidad Católica de Chile and Unidad de Genética, Hospital Dr. Luis Calvo Mackenna, Santiago Chile
- Banu G. Nur
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Affiliation Department of Pediatric Genetics, Akdeniz University Medical School, Antalya, Turkey
- Ercan Mihci
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Affiliation Department of Pediatric Genetics, Akdeniz University Medical School, Antalya, Turkey
- Lilia M. A. Moreira
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Affiliation Laboratory of Human Genetics, Biology Institute, Federal University of Bahia (UFBA), Bahia, Brazil
- Viviane Borges Ferreira
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Affiliation Hospital Santa Izabel, Salvador-Bahia, Brazil
- Dafne D. G. Horovitz
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Affiliation CERES-Genetica Reference Center and Studies in Medical Genetics and Instituto Fernandes Figueira / Fiocruz, Rio de Janeiro, Brazil
- Katia M. da Rocha
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Affiliation Center for Human Genome Studies, Institute of Biosciences, USP, Sao Paulo, Brazil
- Aleksandra Jezela-Stanek
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Affiliation Department of Medical Genetics, Children’s Memorial Health Institute, Warsaw, Poland
- Alice S. Brooks
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Affiliation Department of Clinical Genetics, Sophia Children's Hospital, Erasmus MC, Rotterdam, The Netherlands
- Heiko Reutter
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Affiliation Institute of Human Genetics, University of Bonn, Bonn, Germany and Department of Neonatology and Pediatric Intensive Care, Children's Hospital, University of Bonn, Bonn, Germany
- Julie S. Cohen
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Affiliation Division of Neurogenetics, Kennedy Krieger Institute, Departments of Neurology and Pediatrics, The Johns Hopkins Hospital, Baltimore, Maryland, United States of America
- Ali Fatemi
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Affiliation Division of Neurogenetics, Kennedy Krieger Institute, Departments of Neurology and Pediatrics, The Johns Hopkins Hospital, Baltimore, Maryland, United States of America
- Martin Smitka
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Affiliation Abteilung Neuropädiatrie, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Germany
- Theresa A. Grebe
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Affiliation Division of Genetics & Metabolism, Phoenix Children’s Hospital, Phoenix, Arizona, United States of America
- Nataliya Di Donato
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Affiliation Institute for Clinical Genetics, TU Dresden, Dresden, Germany
- Charu Deshpande
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Affiliation Department of Genetics, Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom
- Anthony Vandersteen
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Affiliation North West Thames Regional Genetics Unit, Kennedy Galton Centre, North West London Hospitals NHS Trust, Northwick Park & St Marks Hospital, Harrow, Middlesex, United Kingdom
- Charles Marques Lourenço
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Affiliation Neurogenetics Unit, Department of Medical Genetics School of Medicine of Ribeirao Preto, University of Sao Paulo, Sao Paulo, Brazil
- Andreas Dufke
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Affiliation Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany
- Eva Rossier
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Affiliation Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany
- Gwenaelle Andre
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Affiliation Unité de foetopathologie, Hôpital Pellegrin, Place Amélie Raba Léon, Bordeaux, France
- Alessandra Baumer
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Affiliation Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland
- Careni Spencer
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Affiliation Division of Human Genetics, National Health Laboratory Service and School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa
- Julie McGaughran
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Affiliation Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, Queensland and School of Medicine, The University of Queensland, Brisbane, Queensland, Australia
- Lude Franke
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Affiliation University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, the Netherlands
- Joris A. Veltman
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Affiliations Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, The Netherlands, Institute of Genetic Medicine, International Centre for Life, Newcastle University, Newcastle upon Tyne, United Kingdom
- Bert B. A. De Vries
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Affiliations Department of Human Genetics, Radboud Institute of Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands, Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, The Netherlands
- Albert Schinzel
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Affiliation Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland
- Simon E. Fisher
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Affiliations Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands, Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands
- Alexander Hoischen
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* E-mail: Bregje.vanBon@radboudumc.nl (BWvB); Alexander.Hoischen@radboudumc.nl (AH)
¶‡ AH and BWvB also contributed equally to this work.
Affiliations Department of Human Genetics, Radboud Institute of Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands, Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, The Netherlands, Department of Internal Medicine and Radboud Center for Infectious Diseases (RCI), Radboud University Medical Center, Nijmegen, The Netherlands
- Bregje W. van Bon
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* E-mail: Bregje.vanBon@radboudumc.nl (BWvB); Alexander.Hoischen@radboudumc.nl (AH)
¶‡ AH and BWvB also contributed equally to this work.
Affiliation Department of Human Genetics, Radboud Institute of Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands
Competing Interests
The authors have declared that no competing interests exist.
Author Contributions
Conceptualization: RAH PD AH BWvB. Data curation: RAH PD SvD BWvB. Formal analysis: RAH PD CG BWvB. Funding acquisition: RAH LF JAV BBADV SEF. Investigation: RAH PD MSt JHF ABT ADe RS LAL HK UA EL MLU MA BGN EM LMAM VBF DDGH KMdR AJS ASB HR JSC AF MSm TAG NDD CD AV CML ADu ER GA AB CS JM AS BWvB. Methodology: RAH PD SAG BWvB. Project administration: SEF AH BWvB. Resources: MSt SAG JHF ABT ADe RS LAL HK UA EL MLU MA BGN EM LMAM VBF DDGH KMdR AJS ASB HR JSC AF MSm TAG NDD CD AV CML ADu ER GA AB CS JM BBADV AS SEF BWvB. Software: RAH CG SvD. Supervision: PD LF JAV BBADV AS SEF AH BWvB. Validation: RAH PD BWvB. Visualization: RAH BWvB. Writing – original draft: RAH BWvB. Writing – review & editing: RAH PD CG SvD JAV BBADV SEF AH BWvB.