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TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions

  • Hashem Almousa
  • , Sara A. Lewis
  • , Somayeh Bakhtiari
  • , Sandra Hinz Nordlie
  • , Alex Pagnozzi
  • , Helen Magee
  • , Stephanie Efthymiou
  • , Jennifer A. Heim
  • , Patricia Cornejo
  • , Maha S. Zaki
  • , Najwa Anwar
  • , Shazia Maqbool
  • , Fatima Rahman
  • , Derek E. Neilson
  • , Anusha Vemuri
  • , Sheng Chih Jin
  • , Xiao Ru Yang
  • , Abolfazl Heidari
  • , Koen Van Gassen
  • , Aurélien Trimouille
    • Christel Thauvin-Robinet, James Liu, Ange Line Bruel, Hoda Tomoum, Mennatallah O. Shata, Mais O. Hashem, Mehran Beiraghi Toosi, Ehsan Ghayoor Karimiani, Gözde Yeşil, Lokesh Lingappa, Debangana Baruah, Farnoosh Ebrahimzadeh, Julien Van-Gils, Laurence Faivre, Mina Zamani, Hamid Galehdari, Saeid Sadeghian, Gholamreza Shariati, Rahema Mohammad, Jasper Van Der Smagt, Alya Qari, John B. Vincent, A. Micheil Innes, Ali Dursun, R. Köksal Özgül, Halil Tuna Akar, Kaya Bilguvar, Cyril Mignot, Boris Keren, Claudia Raveli, Lydie Burglen, Alexandra Afenjar, Laura Donker Kaat, Marjon Van Slegtenhorst, Fowzan Alkuraya, Henry Houlden, Sergio Padilla-Lopez, Reza Maroofian, Michael Sacher, Michael C. Kruer*
*Corresponding author for this work
  • Concordia University
  • Phoenix Children's Hospital
  • University of Arizona
  • Land and Water Business Unit
  • University College London
  • Mayo Clinic, Scottsdale, AZ
  • National Research Center
  • Armed Forces College of Medicine
  • Children's Hospital Lahore
  • The University of Chicago
  • Washington University School of Medicine in St. Louis
  • Alberta Children’s Hospital Research Institute
  • Qazvin University of Medical Sciences
  • Utrecht University
  • University Hospital of Bordeaux
  • CHU Dijon
  • Université de Bourgogne
  • Ain Shams University
  • King Faisal Specialist Hospital and Research Centre
  • Mashhad University of Medical Sciences
  • City St George's, University of London
  • Istanbul University
  • Rainbow Children Hospital
  • Shahid Chamran University of Ahvaz
  • Narges Medical Genetics and Prenatal Diagnosis Laboratory
  • Ahvaz Jundishapur University of Medical Sciences
  • Centre for Addiction and Mental Health (Toronto)
  • Hacettepe University
  • Acibadem Mehmet Ali Aydinlar Universitesi
  • Yale University
  • Sorbonne Université
  • Centre de Référence Déficiences Intellectuelles de Causes Rares
  • AP-HP
  • McGill University

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

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Biochemistry, Genetics and Molecular Biology