About the Authors

Rocio Acuna-Hidalgo

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

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

Affiliation Department of Human Genetics, Radboud Institute of Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands

Christian Gilissen

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

Affiliation Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands

Sipko van Dam

Affiliation University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, the Netherlands

Julie Hoover-Fong

Affiliation McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland, United States of America

Aida B. Telegrafi

Affiliation GeneDx, Gaithersburg, Maryland, United States of America

Anne Destree

Affiliation Institute of Pathology and Genetics (IPG), Gosselies, Belgium

Robert Smigiel

Affiliation Department of Pediatrics and Rare Disorders, Medical University, Wroclaw, Poland

Lindsday A. Lambie

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

Affiliation Medical Genetics Department, Koç University School of Medicine (KUSOM), İstanbul, Turkey

Umut Altunoglu

Affiliation Medical Genetics Department, İstanbul Medical Faculty, İstanbul University, İstanbul, Turkey

Elisabetta Lapi

Affiliation Medical Genetics Unit, Anna Meyer Children's University Hospital, Florence, Italy

Maria Luisa Uzielli

Affiliation University of Florence, Genetic Science, Firenze, Italy

Mariana Aracena

Affiliation División de Pediatría, Pontificia Universidad Católica de Chile and Unidad de Genética, Hospital Dr. Luis Calvo Mackenna, Santiago Chile

Banu G. Nur

Affiliation Department of Pediatric Genetics, Akdeniz University Medical School, Antalya, Turkey

Ercan Mihci

Affiliation Department of Pediatric Genetics, Akdeniz University Medical School, Antalya, Turkey

Lilia M. A. Moreira

Affiliation Laboratory of Human Genetics, Biology Institute, Federal University of Bahia (UFBA), Bahia, Brazil

Viviane Borges Ferreira

Affiliation Hospital Santa Izabel, Salvador-Bahia, Brazil

Dafne D. G. Horovitz

Affiliation CERES-Genetica Reference Center and Studies in Medical Genetics and Instituto Fernandes Figueira / Fiocruz, Rio de Janeiro, Brazil

Katia M. da Rocha

Affiliation Center for Human Genome Studies, Institute of Biosciences, USP, Sao Paulo, Brazil

Aleksandra Jezela-Stanek

Affiliation Department of Medical Genetics, Children’s Memorial Health Institute, Warsaw, Poland

Alice S. Brooks

Affiliation Department of Clinical Genetics, Sophia Children's Hospital, Erasmus MC, Rotterdam, The Netherlands

Heiko Reutter

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

Affiliation Division of Neurogenetics, Kennedy Krieger Institute, Departments of Neurology and Pediatrics, The Johns Hopkins Hospital, Baltimore, Maryland, United States of America

Ali Fatemi

Affiliation Division of Neurogenetics, Kennedy Krieger Institute, Departments of Neurology and Pediatrics, The Johns Hopkins Hospital, Baltimore, Maryland, United States of America

Martin Smitka

Affiliation Abteilung Neuropädiatrie, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Germany

Theresa A. Grebe

Affiliation Division of Genetics & Metabolism, Phoenix Children’s Hospital, Phoenix, Arizona, United States of America

Nataliya Di Donato

Affiliation Institute for Clinical Genetics, TU Dresden, Dresden, Germany

Charu Deshpande

Affiliation Department of Genetics, Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom

Anthony Vandersteen

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

Affiliation Neurogenetics Unit, Department of Medical Genetics School of Medicine of Ribeirao Preto, University of Sao Paulo, Sao Paulo, Brazil

Andreas Dufke

Affiliation Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany

Eva Rossier

Affiliation Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany

Gwenaelle Andre

Affiliation Unité de foetopathologie, Hôpital Pellegrin, Place Amélie Raba Léon, Bordeaux, France

Alessandra Baumer

Affiliation Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland

Careni Spencer

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

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

Affiliation University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, the Netherlands

Joris A. Veltman

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

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

Affiliation Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland

Simon E. Fisher

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

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

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.