Table of contents

August 2016 - Volume 53 - 8

Neurogenetics

Cognitive and behavioural genetics

  • Original article: Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy
    Cyril Mignot, Celina von Stülpnagel, Caroline Nava, Dorothée Ville, Damien Sanlaville, Gaetan Lesca, Agnès Rastetter, Benoit Gachet, Yannick Marie, G Christoph Korenke, Ingo Borggraefe, Dorota Hoffmann-Zacharska, Elżbieta Szczepanik, Mariola Rudzka-Dybała, Uluç Yiş, Hande Çağlayan, Arnaud Isapof, Isabelle Marey, Eleni Panagiotakaki, Christian Korff, Eva Rossier, Angelika Riess, Stefanie Beck-Woedl, Anita Rauch, Christiane Zweier, Juliane Hoyer, André Reis, Mikhail Mironov, Maria Bobylova, Konstantin Mukhin, Laura Hernandez-Hernandez, Bridget Maher, Sanjay Sisodiya, Marius Kuhn, Dieter Glaeser, Sarah Weckhuysen, Candace T Myers, Heather C Mefford, Konstanze Hörtnagel, Saskia Biskup, EuroEPINOMICS-RES MAE working group, Johannes R Lemke, Delphine Héron, Gerhard Kluger, Christel Depienne

Phenotypes

Copy-number variation

Cancer genetics

  • Original article: Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples
    James D Fackenthal, Toshio Yoshimatsu, Bifeng Zhang, Gorka R de Garibay, Mara Colombo, Giovanna De Vecchi, Samantha C Ayoub, Kumar Lal, Olufunmilayo I Olopade, Ana Vega, Marta Santamariña, Ana Blanco, Barbara Wappenschmidt, Alexandra Becker, Claude Houdayer, Logan C Walker, Irene López-Perolio, Mads Thomassen, Michael Parsons, Phillip Whiley, Marinus J Blok, Rita D Brandão, Demis Tserpelis, Diana Baralle, Gemma Montalban, Sara Gutiérrez-Enríquez, Orland Díez, Conxi Lazaro, kConFaB Investigators, Amanda B Spurdle, Paolo Radice, Miguel de la Hoya

New loci