Table of contents

April 2012 - Volume 49 - 4

New loci

Phenotypes

Somatic mosaicism

  • Short report: Keratinocytic epidermal nevi are associated with mosaic RAS mutations (12 April, 2012)
    Christian Hafner, Agusti Toll, Susanne Gantner, Andreas Mauerer, Irene Lurkin, Francesco Acquadro, Alejandro Fernández-Casado, Ellen C Zwarthoff, Wolfgang Dietmaier, Eulalia Baselga, Elisabet Parera, Asunción Vicente, Ariel Casanova, Juan Cigudosa, Thomas Mentzel, Ramon M Pujol, Michael Landthaler, Francisco X Real

Complex traits

Cancer genetics

Copy-number variation

Diagnostics

  • Original article: Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing (12 April, 2012)
    Tobias B Haack, Birgit Haberberger, Eva-Maria Frisch, Thomas Wieland, Arcangela Iuso, Matteo Gorza, Valentina Strecker, Elisabeth Graf, Johannes A Mayr, Ulrike Herberg, Julia B Hennermann, Thomas Klopstock, Klaus A Kuhn, Uwe Ahting, Wolfgang Sperl, Ekkehard Wilichowski, Georg F Hoffmann, Marketa Tesarova, Hana Hansikova, Jiri Zeman, Barbara Plecko, Massimo Zeviani, Ilka Wittig, Tim M Strom, Markus Schuelke, Peter Freisinger, Thomas Meitinger, Holger Prokisch

Conference report