Table of contents

Original articles

• Array comparative genomic hybridisation of 52 subjects with a Smith–Magenis-like phenotype: identification of dosage sensitive loci also associated with schizophrenia, autism, and developmental delay (14 September, 2009)

  Stephen R Williams, Santhosh Girirajan, David Tegay, Norma Nowak, Eli Hatchwell, Sarah H Elsea
• A gain-of-function TBX20 mutation causes congenital atrial septal defects, patent foramen ovale and cardiac valve defects (16 September, 2009)

  Maximilian G Posch, Michael Gramlich, Margaret Sunde, Katharina R Schmitt, Stella H Y Lee, Silke Richter, Andrea Kersten, Andreas Perrot, Anna N Panek, Iman H Al Khatib, Georges Nemer, André Mégarbané, Rainer Dietz, Brigitte Stiller, Felix Berger, Richard P Harvey, Cemil Özcelik
• Clinical and molecular characterisation of Bardet–Biedl syndrome in consanguineous populations: the power of homozygosity mapping (26 October, 2009)

  L Abu Safieh, M A Aldahmesh, H Shamseldin, M Hashem, R Shaheen, H Alkuraya, S A F Al Hazzaa, A Al-Rajhi, F S Alkuraya
• Updating the profile of C-terminal MECP2 deletions in Rett syndrome

  (12 November, 2009)

  A Bebbington, A Percy, J Christodoulou, D Ravine, G Ho, P Jacoby, A Anderson, M Pineda, B Ben Zeev, N Bahi-Buisson, E Smeets, H Leonard
• Phenotypic spectrum of MFN2 mutations in the Spanish population (3 November, 2009)

  C Casasnovas, I Banchs, J Cassereau, N Gueguen, A Chevrollier, J A Martínez-Matos, D Bonneau, V Volpini
• Information for genetic management of mtDNA disease: sampling pathogenic mtDNA mutants in the human germline and in placenta (12 November, 2009) Free

  D Marchington, S Malik, A Banerjee, K Turner, David Samuels, V Macaulay, P Oakeshott, C Fratter, S Kennedy, J Poulton