Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, 53127, Germany

Jil D. Stegmann, Jeshurun C. Kalanithy, Gabriel C. Dworschak, Nina Ishorst & Heiko Reutter

Institute of Anatomy and Cell Biology, Medical Faculty, University of Bonn, Bonn, 53115, Germany

Jil D. Stegmann, Enrico Mingardo, Khadija Channab & Benjamin Odermatt

Institute of Neuroanatomy, Medical Faculty, University of Bonn, Bonn, 53115, Germany

Jeshurun C. Kalanithy, Gabriel C. Dworschak, Nina Ishorst, Tobias T. Lindenberg, Öznur Yilmaz & Benjamin Odermatt

Department of Neuropediatrics, University Hospital Bonn, Bonn, 53127, Germany

Gabriel C. Dworschak

Division of Cell Matrix Biology and Regenerative Medicine, School of Biological Sciences, Faculty of Biology Medicine and Health, University of Manchester, Manchester, UK

Filipa M. Lopes, Yee Mang Ho & Adrian S. Woolf

Georg-Speyer-Haus, Institute for Tumor Biology and Experimental Therapy, 60596, Frankfurt am Main, Germany

Phillip Grote

Division of Nephrology, Department of Pediatrics, Boston Children’s Hospital, Harvard Medical School, Boston, MA, USA

Steve Seltzsam, Shirlee Shril & Friedhelm Hildebrandt

Institute of Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany

Felix Boschann

Department of Pediatrics, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany

André Heinen

Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA

Angad Jolly, Mir Reza Bekheirnia, Jennifer E. Posey & James R. Lupski

Medical Scientist Training Program, Baylor College of Medicine, Houston, TX, USA

Angad Jolly

Center for Cardiovascular Research, Nationwide Children’s Hospital, Department of Pediatrics, Ohio State University, Columbus, OH, USA

Katherine Myers & Kim McBride

Department of Pediatrics, Renal Service, Texas Children’s Hospital, Houston, TX, 77030, USA

Mir Reza Bekheirnia & Nasim Bekheirnia

Department of Pediatrics, Baylor College of Medicine, Houston, TX, 77030, USA

Nasim Bekheirnia & James R. Lupski

Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16132, Genoa, Italy

Marcello Scala

U.O.C. Genetica Medica, IRCCS Istituto Giannina Gaslini, 16147, Genoa, Italy

Marcello Scala

Medical Genetics, Department of Precision Medicine, Università degli Studi della Campania ‘Luigi Vanvitelli’, via Luigi De Crecchio 7, 80138, Naples, Italy

Manuela Morleo, Vincenzo Nigro & Annalaura Torella

Telethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italy

Manuela Morleo, Vincenzo Nigro, Annalaura Torella & Michele Pinelli

Department of Molecular Medicine and Medical Biotechnologies, University Federico II, Naples, Italy

Michele Pinelli

Genomics and Clinical Genetics, IRCCS Gaslini, Genoa, Italy

Valeria Capra

Division of Medical Genetics, Department of Specialized Medicine, McGill University, Montreal, QC, Canada

Andrea Accogli

Department of Human Genetics, McGill University, Montreal, QC, Canada

Andrea Accogli

Medical Genetics Service, Oncology Department of Southern Switzerland, Ente Ospedaliero Cantonale, Lugano, Switzerland

Silvia Maitz

MBBM Foundation, Monza, Italy

Alice Spano

Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA

Rory J. Olson, Eric W. Klee & Brendan C. Lanpher

Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA

Eric W. Klee & Brendan C. Lanpher

Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, USA

Eric W. Klee

Department of Pediatrics, Seoul National University College of Medicine, Seoul, Republic of Korea

Se Song Jang & Jong-Hee Chae

Department of Genomics Medicine, Rare Disease Center, Seoul National University Hospital, Seoul, Republic of Korea

Jong-Hee Chae

Division of Neonatology, Pediatric Intensive Care and Neuropediatrics, Comprehensive Center for Pediatrics, Medical University of Vienna, Vienna, Austria

Philipp Steinbauer

Division of Bioinformatics, Medical University of Innsbruck, 6020, Innsbruck, Austria

Dietmar Rieder

Department of Pediatrics I, Medical University of Innsbruck, 6020, Innsbruck, Austria

Andreas R. Janecke

Division of Human Genetics, Medical University of Innsbruck, 6020, Innsbruck, Austria

Andreas R. Janecke

Department of Pediatrics and Adolescent Medicine, Division of Pediatric Pulmonology, Allergology and Endocrinology, Comprehensive Center for Pediatrics, Medical University of Vienna, 1090, Vienna, Austria

Julia Vodopiutz

Department of Clinical Medicine, Aarhus University, Aarhus, Denmark

Ida Vogel

Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark

Ida Vogel & Jenny Blechingberg

Division of Medical Genetics, Department of Pediatrics, Duke University, Durham, NC, USA

Jennifer L. Cohen

Department of Pediatrics, Duke University Medical Center, Durham, NC, USA

Kacie Riley

Pediatric Neurology, Riley Hospital for Children Indiana University Health, Indianapolis, IN, USA

Victoria Klee & Laurence E. Walsh

Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany

Matthias Begemann, Miriam Elbracht & Thomas Eggermann

Division of Neuropediatrics and Social Pediatrics, Department of Pediatrics, Medical Faculty, RWTH Aachen University, 52074, Aachen, Germany

Arzu Stoppe

Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands

Kyra Stuurman, Marjon van Slegtenhorst & Tahsin Stefan Barakat

Department of Neurology, Columbia University Vagelos College of Physicians and Surgeons, New York, NY, USA

Maureen S. Mulhern

Department of Pathology, Columbia University Vagelos College of Physicians and Surgeons, New York, NY, USA

Maureen S. Mulhern

Division of Child Neurology, Department of Neurology, Columbia University Vagelos College of Physicians and Surgeons and NewYork-Presbyterian Morgan Stanley Children’s Hospital, New York, NY, USA

Tristan T. Sands

Department of Pediatrics, Columbia University Vagelos College of Physicians and Surgeons and NewYork-Presbyterian Morgan Stanley Children’s Hospital, New York, NY, USA

Tristan T. Sands

Institute for Genomic Medicine, Columbia University Vagelos College of Physicians and Surgeons, New York, NY, USA

Tristan T. Sands

Department of Genetic Counselling, The Hospital for Sick Children, Toronto, ON, M5G 1X8, Canada

Cheryl Cytrynbaum

Department of Molecular Genetics, University of Toronto, Toronto, ON, M5S 1A1, Canada

Cheryl Cytrynbaum & Rosanna Weksberg

Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, M5G 1X8, Canada

Rosanna Weksberg

U.O. Genetica Medica, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy

Federica Isidori, Tommaso Pippucci, Giulia Severi & Francesca Montanari

Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children’s Hospital, Phoenix, AZ, USA

Michael C. Kruer & Somayeh Bakhtiari

Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine–Phoenix, Phoenix, AZ, USA

Michael C. Kruer & Somayeh Bakhtiari

Neuroscience Research Center, Faculty of Medicine, Golestan University of Medical Sciences, Gorgan, Iran

Hossein Darvish

Division Neonatology and Pediatric Intensive Care, Department of Pediatric and Adolescent Medicine, Friedrich-Alexander University of Erlangen-Nürnberg, Erlangen, Germany

Heiko Reutter

Institute of Human Genetics, Friedrich-Alexander University of Erlangen-Nürnberg, Erlangen, Germany

Heiko Reutter

Institute of Structural Biology, University Hospital Bonn, University of Bonn, Venusberg-Campus 1, 53127, Bonn, Germany

Gregor Hagelueken & Matthias Geyer

Royal Manchester Children’s Hospital, Manchester University NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK

Adrian S. Woolf

Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA

James R. Lupski

Texas Children’s Hospital, Houston, TX, 77030, USA

James R. Lupski

Department of Pediatric and Adolescent Medicine, Friedrich-Alexander University of Erlangen-Nürnberg, Erlangen, 91054, Germany

Alina C. Hilger

Research Center On Rare Kidney Diseases (RECORD), University Hospital Erlangen, 91054, Erlangen, Germany

Alina C. Hilger

Conceptualization: J.D.S., J.C.K., G.C.D., H.R., G.H., M.G., B.O., A.C.H.; Data curation: J.D.S., J.C.K., P.G., E.M., F.M.L., H.R.; Formal analysis: J.D.S., N.I., E.M., F.M.L., G.H.; Investigation: J.D.S., J.C.K., G.C.D., N.I., E.M., F.M.L., Y.M.H., P.G., T.T.L., Ö.Y., K.C., S.Se., S.Sh., F.H., F.B., A.H., A.J., K.My., K.Mc., M.R.B., N.B., M.S., M.M., V.N., A.T., M.P., V.C., A.A., S.M., A.Sp., R.J.O., E.W.K., B.C.L., S.S.J., J.C., P.S., D.R., A.R.J., J.V., I.V., J.B.F., J.L.C., K.R., V.K., L.E.W., M.Be., M.E., T.E., A.St., K.S., M.V.S., T.S.B., M.S.M., T.T.S., C.C., R.W., F.I., T.P., G.S., F.M., M.C.K., S.B., H.D., H.R., G.H., M.G., A.S.W., J.E.P., J.R.L., B.O., A.C.H.; Methodology: J.D.S., G.H., A.S.W., B.O., A.C.H.; Resources: H.R., M.G., A.S.W., J.R.L., B.O.; Visualization: J.D.S., F.M.L., G.H.; Writing - original draft: J.D.S., J.C.K., N.I., H.R., A.S.W, B.O., A.C.H.; Writing - review & editing: J.D.S., J.C.K., B.O., A.C.H.; First authors J.D.S. and J.C.K. as well as last authors B.O. and A.C.H. contributed equally to this work.