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Cecilia Barbosa Buck

As seen in: The American Journal of Human Genetics
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Articles

Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability

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By Christelle Etard, Levon Halabelian, Élise Schaefer, Sophie Scheidecker, Véronique Geoffroy, Megana Prasad, Amandine Girard, Hong Zeng, Fengling Li, Damien Plassard, Céline Keime, Francesca Mattioli, Amélie Piton, Atsushi Fujita, Naomichi Matsumoto, Lyse Ruaud, Jonathan Levy, Anne-Claude Tabet, Ingrid M. Wentzensen, Teresa Santiago-Sim, Roman Yusupov, Kristian Tveten, Ebba Alkhunaizi, Chumei Li, Saskia B. Wortmann, René G. Feichtinger, Johannes A. Mayr, Xiaodong Wang, Jia Wang, Tatjana Bierhals, Lev Grinstein, Anna Ruiz, Elisabeth Gabau, Antje Kampmeier, Alma Kuechler, Konrad Platzer, Rami Abou Jamra, Audrey C. Woerner, Franco Laccone, Borut Peterlin, Goran Cuturilo, Velibor Tasic, Caroline M Kolvenbach, Friedhelm Hildebrandt, Luiza Ramos, Fernando Kok, Elifcan Taşdelen, Abdullah Sezer, Afife Büke, Thomas Courtin, Delphine Héron, Boris Keren, Sandra Whalen, Yanzhong Yang, Mariette Hoffer, Arie van Haeringen, Hossein Najmabadi, Cheryl H Arrowsmith, Hélène Dollfus, Jean S. Muller, Jean Pierre Müller, Ariane Kröll-Hermi, Corinne Stoetzel, Kimia Kahrizi, Jamali Payman, Cathy Obringer, Laurie Ruch, Claire Feger, Kim Chong Ae, Blandine Dozières, Marie Falkenberg Smeland, Gina Cowing, Herman Gonorazky, Gan Jing, Theresia Herget, Olivier Kassel, Michaela Idleburg, Susanne Gerit Kircher, Barbara Golob, Cecilia Barbosa Buck, Zehra Yavuz, Selim Selçuk Çomoğlu, Carrie Costin, Elodie Lacaze, Joelle Roume, Uwe Strähle
| The American Journal of Human Genetics Verified
Keywords PRMT9 intellectual disability whole-exome sequencing primary cilium zebrafish neurodevelopmental disorder Introduction Affecting at least 1% of the population worldwide, intellectual disability is a major healthcare problem.1,2 Defined as a substantive limitation in intellectual functioning and adaptive behavior with an age of onset before 18 years, it is clinically and genetically highly heterogeneous.3 Sequencing efforts such as trio whole-exome sequencing (WES) or whole-genome...
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