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neurodevelopmental disorder

  • 16p13.11 microduplication in 45 new patients: refined clinical significance and genotype–phenotype correlations
    Laïla Allach El Khattabi, Solveig Heide, Jean-Hubert Caberg, Joris Andrieux, Martine Doco Fenzy, Caroline Vincent-Delorme, Patrick Callier, Sandra Chantot-Bastaraud, Alexandra Afenjar, Odile Boute-Benejean, Marie Pierre Cordier, Laurence Faivre, Christine Francannet, Marion Gerard, Alice Goldenberg, Alice Masurel-Paulet, Anne-Laure Mosca-Boidron, Nathalie Marle, Anne Moncla, Nathalie Le Meur, Michèle Mathieu-Dramard, Ghislaine Plessis, Gaetan Lesca, Massimiliano Rossi, Patrick Edery, Andrée Delahaye-Duriez, Loïc De Pontual, Anne Claude Tabet, Aziza Lebbar, Lesley Suiro, Christine Ioos, Abdelhafid Natiq, Siham Chafai Elalaoui, Chantal Missirian, Aline Receveur, Caroline François-Fiquet, Pascal Garnier, Catherine Yardin, Cécile Laroche, Philippe Vago, Damien Sanlaville, Jean Michel Dupont, Brigitte Benzacken, Eva Pipiras
    Journal of Medical Genetics May 2020, 57 (5) 301-307; DOI: 10.1136/jmedgenet-2018-105389
  • Bi-allelic mutations in TRAPPC2L result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts
    Miroslav P Milev, Claudio Graziano, Daniela Karall, Willemijn F E Kuper, Noraldin Al-Deri, Duccio Maria Cordelli, Tobias B Haack, Katharina Danhauser, Arcangela Iuso, Flavia Palombo, Tommaso Pippucci, Holger Prokisch, Djenann Saint-Dic, Marco Seri, Daniela Stanga, Giovanna Cenacchi, Koen L I van Gassen, Johannes Zschocke, Christine Fauth, Johannes A Mayr, Michael Sacher, Peter M van Hasselt
    Journal of Medical Genetics Nov 2018, 55 (11) 753-764; DOI: 10.1136/jmedgenet-2018-105441