Skip to main navigation Skip to search Skip to main content

BRAT1–related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients

  • Camille Engel*
  • , Stéphanie Valence
  • , Geoffroy Delplancq
  • , Reza Maroofian
  • , Andrea Accogli
  • , Emanuele Agolini
  • , Fowzan S. Alkuraya
  • , Valentina Baglioni
  • , Irene Bagnasco
  • , Mathilde Becmeur-Lefebvre
  • , Enrico Bertini
  • , Ingo Borggraefe
  • , Elise Brischoux-Boucher
  • , Ange Line Bruel
  • , Alfredo Brusco
  • , Dalal K. Bubshait
  • , Christelle Cabrol
  • , Maria Roberta Cilio
  • , Marie Coralie Cornet
  • , Christine Coubes
    • Olivier Danhaive, Valérie Delague, Anne Sophie Denommé-Pichon, Marilena Carmela Di Giacomo, Martine Doco-Fenzy, Hartmut Engels, Kirsten Cremer, Marion Gérard, Joseph G. Gleeson, Delphine Heron, Joanna Goffeney, Anne Guimier, Frederike L. Harms, Henry Houlden, Michele Iacomino, Rauan Kaiyrzhanov, Benjamin Kamien, Ehsan Ghayoor Karimiani, Dror Kraus, Paul Kuentz, Kerstin Kutsche, Damien Lederer, Lauren Massingham, Cyril Mignot, Déborah Morris-Rosendahl, Lakshmi Nagarajan, Sylvie Odent, Clothilde Ormières, Jennifer Neil Partlow, Laurent Pasquier, Lynette Penney, Christophe Philippe, Gianluca Piccolo, Cathryn Poulton, Audrey Putoux, Marlène Rio, Christelle Rougeot, Vincenzo Salpietro, Ingrid Scheffer, Amy Schneider, Siddharth Srivastava, Rachel Straussberg, Pasquale Striano, Enza Maria Valente, Perrine Venot, Laurent Villard, Antonio Vitobello, Johanna Wagner, Matias Wagner, Maha S. Zaki, Federizo Zara, Gaetan Lesca, Vahid Reza Yassaee, Mohammad Miryounesi, Farzad Hashemi-Gorji, Mehran Beiraghi, Farah Ashrafzadeh, Hamid Galehdari, Christopher Walsh, Antonio Novelli, Moritz Tacke, Dinara Sadykova, Yerdan Maidyrov, Kairgali Koneev, Chingiz Shashkin, Valeria Capra, Mina Zamani, Lionel Van Maldergem, Lydie Burglen, Juliette Piard
*Corresponding author for this work
  • Université de Franche-Comté
  • APHP Sorbonne Université
  • University College London
  • McGill University
  • IRCCS Ospedale pediatrico Bambino Gesù - Roma
  • King Faisal Specialist Hospital and Research Centre
  • University of Rome La Sapienza
  • Martini Hospital
  • CHR d'Orléans
  • Ludwig Maximilian University of Munich
  • Institut national de la santé et de la recherche médicale
  • Université de Bourgogne
  • University of Turin
  • Université catholique de Louvain
  • University of California at San Francisco
  • CHU Montpellier
  • Aix-Marseille Université
  • Ospedale San Carlo, Potenza
  • Service de Génétique
  • University of Nantes
  • UNIV Nantes
  • University of Bonn
  • Côte de Nacre University Hospital Center
  • University of California at San Diego
  • Sorbonne Université
  • Université Paris Cité
  • University of Hamburg
  • IRCCS Istituto Giannina Gaslini - Genova
  • King Edward Memorial Hospital for Women
  • Next Generation Genetic Polyclinic
  • St George's University of London
  • Schneider Childrens Medical Center Israel
  • Tel Aviv University
  • Institute for Pathology and Genetics
  • Hasbro Children’s Hospital
  • Royal Brompton and Harefield NHS Foundation Trust
  • Imperial College London
  • Perth Children’s Hospital
  • University of Western Australia
  • Université de Rennes
  • Boston Children's Hospital
  • Dalhousie University
  • Hospices civils de Lyon
  • Centre de Recherche en Neurosciences de Lyon
  • University of Genoa
  • University of Melbourne
  • Royal Children's Hospital
  • University of Pavia
  • IRCCS Fondazione Istituto Neurologico Casimiro Mondino - Pavia
  • Institut Alix de Champagne
  • Assistance publique - Hôpitaux de Marseille
  • Helmholtz Zentrum München - German Research Center for Environmental Health
  • Technical University of Munich
  • National Research Center
  • Universite Claude Bernard Lyon 1
  • Shahid Beheshti University of Medical Sciences
  • Mashhad University of Medical Sciences
  • Shahid Chamran University of Ahvaz
  • Astana Medical University
  • Kazakh National Medical University
  • The International Institute of Postraduate Education

Research output: Contribution to journal › Article › peer-review

10   Link opens in a new tab Scopus citations

Fingerprint

Dive into the research topics of 'BRAT1–related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients'. Together they form a unique fingerprint.
Sort by

Biochemistry, Genetics and Molecular Biology