Table of contents

New loci

• Original article:

  OTX2 mutations cause autosomal dominant pattern dystrophy of the retinal pigment epithelium

  (7 October, 2014)

  Ajoy Vincent, Nicole Forster, Jason T Maynes, Tara A Paton, Gail Billingsley, Nicole M Roslin, Arfan Ali, Joanne Sutherland, Tom Wright, Carol A Westall, Andrew D Paterson, Christian R Marshall, FORGE Canada Consortium, Elise Héon
• Original article:

  Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability

  (23 October, 2014)

  David Hunt, Richard J Leventer, Cas Simons, Ryan Taft, Kathryn J Swoboda, Mary Gawne-Cain, the DDD study, Alex C Magee, Peter D Turnpenny, Diana Baralle
• Short report:

  Mutation in PLK4, encoding a master regulator of centriole formation, defines a novel locus for primordial dwarfism

  (15 October, 2014)

  Ranad Shaheen, Saeed Al Tala, Agaadir Almoisheer, Fowzan S Alkuraya