Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND)

Gabriella Vera; Arthur Sorlin; Geoffroy Delplancq; François Lecoquierre; Marie Brasseur-Daudruy; Florence Petit; Thomas Smol; Alban Ziegler; Dominique Bonneau; Estelle Colin; Sandra Mercier; Benjamin Cogné; Stephane Bezieau; Patrick Edery; Gaetan Lesca; Nicolas Chatron; Isabelle Sabatier; Bénédicte Duban-Bedu; Cindy Colson; Amélie Piton; Benjamin Durand; Yline Capri; Laurence Perrin; Antje Wiesener; Christiane Zweier; Reza Maroofian; Christopher Carroll; Hamid Galehdari; Neda Mazaheri; Bert L. Callewaert; Fabienne Giulianno; Khaoula Zaafrane-Khachnaoui; Rebecca Buchert-Lo; Tobias B Haack; Janine Magg; Angelika Riess; Maria Blandfort; Stephan Waldmüller; Veronka Horber; Emanuela Leonardi; Roberta Polli; Licia Turolla; Alessandra Murgia; Thierry Frebourg; Anne Sophie Lebre; Gaël Nicolas; Pascale Saugier-Veber; Anne-Marie Guerrot

doi:10.1016/j.ejmg.2020.104004

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Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND)

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Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND)

Gabriella Vera, Arthur Sorlin, Geoffroy Delplancq, François Lecoquierre, Marie Brasseur-Daudruy, Florence Petit, Thomas Smol, Alban Ziegler, Dominique Bonneau, Estelle Colin, …

European Journal of Medical Genetics

07/2020

DOI: https://doi.org/10.1016/j.ejmg.2020.104004

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Title: Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND)
Creators - without role: Gabriella Vera - Biotherapy of Genetic Diseases, Inflammatory Disorders and Cancers
Arthur Sorlin - Université Bourgogne Franche-Comté
Geoffroy Delplancq - Inserm
François Lecoquierre - Biotherapy of Genetic Diseases, Inflammatory Disorders and Cancers
Marie Brasseur-Daudruy - Université de Rouen Normandie
Florence Petit - Centre Hospitalier Universitaire de Lille
Thomas Smol - Centre Hospitalier Universitaire de Lille
Alban Ziegler - Biologie Neurovasculaire et Mitochondriale Intégrée
Dominique Bonneau - Centre Hospitalier Universitaire d'Angers
Estelle Colin - Université d'Angers
Sandra Mercier - Génétique Médicale & Génomique Fonctionelle
Benjamin Cogné - Centre Hospitalier Universitaire de Nantes
Stephane Bezieau - Laboratoire de Génétique Cellulaire
Patrick Edery - Service de cytogénétique constitutionnelle
Gaetan Lesca - Centre Hospitalier Le Vinatier
Nicolas Chatron - Centre de Recherche en Neurosciences de Lyon
Isabelle Sabatier - Hôpital Lyon Sud
Bénédicte Duban-Bedu - Centre de Génétique Chromosomique [Hôpital Saint Vincent de Paul]
Cindy Colson - Hôpital Georges-Clemenceau
Amélie Piton - Hôpitaux Universitaires de Strasbourg
Benjamin Durand - Université de Montpellier
Yline Capri - Hôpital Robert-Debré
Laurence Perrin - Hôpital Robert-Debré
Antje Wiesener - Friedrich-Alexander-Universität Erlangen-Nürnberg
Christiane Zweier - Institute of Human Genetics
Reza Maroofian - St George's, University of London
Christopher Carroll - St George's, University of London
Hamid Galehdari - Shahid Chamran University of Ahvaz
Neda Mazaheri - Shahid Chamran University of Ahvaz
Bert L. Callewaert - Ghent University Hospital
Fabienne Giulianno - Hôpital l'Archet
Khaoula Zaafrane-Khachnaoui - Hôpital l'Archet
Rebecca Buchert-Lo
Tobias B Haack - Institute of Human Genetics
Janine Magg - University Children's Hospital Tübingen
Angelika Riess
Maria Blandfort - Praxis für Humangenetik
Stephan Waldmüller - Human Genetics
Veronka Horber - University Children's Hospital Tübingen
Emanuela Leonardi - Città della Speranza Foundation
Roberta Polli - Città della Speranza Foundation
Licia Turolla
Alessandra Murgia - Città della Speranza Foundation
Thierry Frebourg - Biotherapy of Genetic Diseases, Inflammatory Disorders and Cancers
Anne Sophie Lebre - Fondation Jean Dausset-CEPH
Gaël Nicolas - Biotherapy of Genetic Diseases, Inflammatory Disorders and Cancers
Pascale Saugier-Veber - Biotherapy of Genetic Diseases, Inflammatory Disorders and Cancers
Anne-Marie Guerrot - Génomique et Médecine Personnalisée du Cancer et des Maladies Neuropsychiatriques
Publication Details: European Journal of Medical Genetics
Identifiers: 9934363009311
Academic Unit: Université de Montpellier
Language: English
Resource Type: Journal article
Local Fields: hal-02904491