Table of contents

June 2014 - Volume 51 - 6

Cancer genetics

Copy-number variation

New loci

Complex traits

Phenotypes

  • Short report: A familial disorder of altered DNA-methylation (10 April, 2014)
    Almuth Caliebe, Julia Richter, Ole Ammerpohl, Deniz Kanber, Jasmin Beygo, Susanne Bens, Andrea Haake, Eva Jüttner, Bernhard Korn, Deborah J G Mackay, José I Martin-Subero, Inga Nagel, Neil J Sebire, Larissa Seidmann, Inga Vater, Constantin Sylvius von Kaisenberg, I Karen Temple, Bernhard Horsthemke, Karin Buiting, Reiner Siebert
  • Original article: Pathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephaly (17 April, 2014)
    Kelly A Bear, Benjamin D Solomon, Sonir Antonini, Ivo J P Arnhold, Marcela M França, Erica H Gerkes, Dorothy K Grange, Donald W Hadley, Jarmo Jääskeläinen, Sabrina S Paulo, Patrick Rump, Constantine A Stratakis, Elizabeth M Thompson, Mary Willis, Thomas L Winder, Alexander A L Jorge, Erich Roessler, Maximilian Muenke

Methods

  • Original article: A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories (4 April, 2014)
    Chizuru Akimoto, Alexander E Volk, Marka van Blitterswijk, Marleen Van den Broeck, Claire S Leblond, Serge Lumbroso, William Camu, Birgit Neitzel, Osamu Onodera, Wouter van Rheenen, Susana Pinto, Markus Weber, Bradley Smith, Melanie Proven, Kevin Talbot, Pamela Keagle, Alessandra Chesi, Antonia Ratti, Julie van der Zee, Helena Alstermark, Anna Birve, Daniela Calini, Angelica Nordin, Daniela C Tradowsky, Walter Just, Hussein Daoud, Sabrina Angerbauer, Mariely DeJesus-Hernandez, Takuya Konno, Anjali Lloyd-Jani, Mamede de Carvalho, Kevin Mouzat, John E Landers, Jan H Veldink, Vincenzo Silani, Aaron D Gitler, Christopher E Shaw, Guy A Rouleau, Leonard H van den Berg, Christine Van Broeckhoven, Rosa Rademakers, Peter M Andersen, Christian Kubisch

PostScript

Book review