Anne-Sophie Denommé-Pichon,Leslie Matalonga,Elke de Boer,Adam Jackson,Elisa Benetti,Siddharth Banka,Ange-Line Bruel,Andrea Ciolfi,Jill Clayton-Smith,Bruno Dallapiccola,Yannis Duffourd,Kornelia Ellwanger,Chiara Fallerini,Christian Gilissen,Holm Graessner,Tobias B Haack,Marketa Havlovicova,Alexander Hoischen,Nolwenn Jean-Marçais,Tjitske Kleefstra,Estrella López-Martín,Milan Macek,Maria Antonietta Mencarelli,Sébastien Moutton,Rolph Pfundt,Simone Pizzi,Manuel Posada,Francesca Clementina Radio,Alessandra Renieri,Caroline Rooryck,Lukas Ryba,Hana Safraou,Martin Schwarz,Marco Tartaglia,Christel Thauvin-Robinet,Julien Thevenon,Frédéric Tran Mau-Them,Aurélien Trimouille,Pavel Votypka,Bert B A de Vries,Marjolein H Willemsen,Birte Zurek,Alain Verloes,Christophe Philippe, , , , ,Antonio Vitobello,Lisenka E L M Vissers,Laurence Faivre
Anne-Sophie Denommé-Pichon
Unité Fonctionnelle d’Innovation diagnostique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD “Génétique des Anomalies du Développement”, FHU-TRANSLAD, Dijon, France. Electronic address: anne-sophie.denomme-pichon@u-bourgogne.fr.
Leslie Matalonga
CNAG CRG, Centre for Genomic Regulation”, The Barcelona Institute of Science and Technology, Barcelona, Spain.
Elke de Boer
Dept of Human Genetics, Radboudumc, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboudumc, Nijmegen, The Netherlands.
Adam Jackson
Manchester Centre for Genomic Medicine, University of Manchester, Manchester, UK.
Elisa Benetti
Med Biotech Hub and Competence Center, Dept of Medical Biotechnologies, University of Siena, Italy.
Siddharth Banka
Manchester Centre for Genomic Medicine, University of Manchester, Manchester, UK.
Ange-Line Bruel
Unité Fonctionnelle d’Innovation diagnostique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD “Génétique des Anomalies du Développement”, FHU-TRANSLAD, Dijon, France.
Andrea Ciolfi
Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.
Jill Clayton-Smith
Manchester Centre for Genomic Medicine, University of Manchester, Manchester, UK.
Bruno Dallapiccola
Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.
Yannis Duffourd
Unité Fonctionnelle d’Innovation diagnostique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD “Génétique des Anomalies du Développement”, FHU-TRANSLAD, Dijon, France.
Kornelia Ellwanger
Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany; Centre for Rare Diseases, University of Tübingen, Tübingen, Germany.
Chiara Fallerini
Med Biotech Hub and Competence Center, Dept of Medical Biotechnologies, University of Siena, Italy; Medical Genetics, University of Siena, Siena, Italy.
Christian Gilissen
Dept of Human Genetics, Radboudumc, Nijmegen, The Netherlands; Radboud Institute for Molecular Life Sciences, Nijmegen, the Netherlands.
Holm Graessner
Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany; Centre for Rare Diseases, University of Tübingen, Tübingen, Germany.
Tobias B Haack
Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany; Centre for Rare Diseases, University of Tübingen, Tübingen, Germany.
Marketa Havlovicova
Dept of Biology and Medical Genetics, Charles University Prague, Prague, Czech Republic.
Alexander Hoischen
Dept of Human Genetics, Radboudumc, Nijmegen, The Netherlands; Radboud Institute for Molecular Life Sciences, Nijmegen, the Netherlands; Dept of Internal Medicine and Radboud Center for Infectious Diseases (RCI), Radboudumc, Nijmegen, the Netherlands.
Nolwenn Jean-Marçais
UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD “Génétique des Anomalies du Développement”, FHU-TRANSLAD, Dijon, France; Dept of Genetics and Reference Center for Development disorders and intellectual disabilities, FHU TRANSLAD and GIMI Institute, CHU Dijon Bourgogne, Dijon, France.
Tjitske Kleefstra
Dept of Human Genetics, Radboudumc, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboudumc, Nijmegen, The Netherlands; Center of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, The Netherlands.
Estrella López-Martín
Institute of Rare Diseases Research, Spanish Undiagnosed Rare Diseases Cases Program (SpainUDP) & Undiagnosed Diseases Network International (UDNI), Instituto de Salud Carlos III, Madrid, Spain.
Milan Macek
Dept of Biology and Medical Genetics, Charles University Prague, Prague, Czech Republic.
Maria Antonietta Mencarelli
Genetica Medica, Azienda Ospedaliero-Universitaria Senese, Siena, Italy.
Sébastien Moutton
UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD “Génétique des Anomalies du Développement”, FHU-TRANSLAD, Dijon, France.
Rolph Pfundt
Dept of Human Genetics, Radboudumc, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboudumc, Nijmegen, The Netherlands.
Simone Pizzi
Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.
Manuel Posada
Institute of Rare Diseases Research, Spanish Undiagnosed Rare Diseases Cases Program (SpainUDP) & Undiagnosed Diseases Network International (UDNI), Instituto de Salud Carlos III, Madrid, Spain.
Francesca Clementina Radio
Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.
Alessandra Renieri
Med Biotech Hub and Competence Center, Dept of Medical Biotechnologies, University of Siena, Italy; Medical Genetics, University of Siena, Siena, Italy; Genetica Medica, Azienda Ospedaliero-Universitaria Senese, Siena, Italy.
Caroline Rooryck
University Bordeaux, MRGM INSERM U1211, CHU de Bordeaux, Service de Génétique Médicale, Bordeaux, France.
Lukas Ryba
Dept of Biology and Medical Genetics, Charles University Prague, Prague, Czech Republic.
Hana Safraou
Unité Fonctionnelle d’Innovation diagnostique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD “Génétique des Anomalies du Développement”, FHU-TRANSLAD, Dijon, France.
Martin Schwarz
Dept of Biology and Medical Genetics, Charles University Prague, Prague, Czech Republic.
Marco Tartaglia
Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.
Christel Thauvin-Robinet
Unité Fonctionnelle d’Innovation diagnostique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD “Génétique des Anomalies du Développement”, FHU-TRANSLAD, Dijon, France; Dept of Genetics and Reference Center for Development disorders and intellectual disabilities, FHU TRANSLAD and GIMI Institute, CHU Dijon Bourgogne, Dijon, France.
Julien Thevenon
UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD “Génétique des Anomalies du Développement”, FHU-TRANSLAD, Dijon, France.
Frédéric Tran Mau-Them
Unité Fonctionnelle d’Innovation diagnostique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD “Génétique des Anomalies du Développement”, FHU-TRANSLAD, Dijon, France.
Aurélien Trimouille
Laboratoire de Génétique Moléculaire, Service de Génétique Médicale, CHU Bordeaux – Hôpital Pellegrin, Bordeaux, France.
Pavel Votypka
Dept of Biology and Medical Genetics, Charles University Prague, Prague, Czech Republic.
Bert B A de Vries
Dept of Human Genetics, Radboudumc, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboudumc, Nijmegen, The Netherlands.
Marjolein H Willemsen
Dept of Human Genetics, Radboudumc, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboudumc, Nijmegen, The Netherlands.
Birte Zurek
Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany; Centre for Rare Diseases, University of Tübingen, Tübingen, Germany.
Alain Verloes
Dept of Genetics, Assistance Publique-Hôpitaux de Paris – Université de Paris, Paris, France; INSERM UMR 1141 “NeuroDiderot”, Hôpital Robert Debré, Paris, France.
Christophe Philippe
Unité Fonctionnelle d’Innovation diagnostique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD “Génétique des Anomalies du Développement”, FHU-TRANSLAD, Dijon, France.
Antonio Vitobello
Unité Fonctionnelle d’Innovation diagnostique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD “Génétique des Anomalies du Développement”, FHU-TRANSLAD, Dijon, France.
Lisenka E L M Vissers
Dept of Human Genetics, Radboudumc, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboudumc, Nijmegen, The Netherlands.
Laurence Faivre
UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD “Génétique des Anomalies du Développement”, FHU-TRANSLAD, Dijon, France; Dept of Genetics and Reference Center for Development disorders and intellectual disabilities, FHU TRANSLAD and GIMI Institute, CHU Dijon Bourgogne, Dijon, France. Electronic address: laurence.faivre@chu-dijon.fr.
