Table of contents

Copy-number variation

• Original article:

  Chromosome 1p21.3 microdeletions comprising DPYD and MIR137 are associated with intellectual disability

  (15 October, 2011)

  Marjolein H Willemsen, Astrid Vallès, Laurens A M H Kirkels, Mathilde Mastebroek, Nikkie Olde Loohuis, Aron Kos, Willemijn M Wissink-Lindhout, Arjan P M de Brouwer, Willy M Nillesen, Rolph Pfundt, Muriel Holder-Espinasse, Louis Vallée, Joris Andrieux, Marjolein C Coppens-Hofman, Hanneke Rensen, Ben C J Hamel, Hans van Bokhoven, Armaz Aschrafi, Tjitske Kleefstra
• Original article: Sex differences in reproductive fitness contribute to preferential maternal transmission of 22q11.2 deletions (2 November, 2011)

  Gregory Costain, Eva W C Chow, Candice K Silversides, Anne S Bassett
• Original article:

  Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development

  (2 November, 2011)

  Sabina Benko, Christopher T Gordon, Delphine Mallet, Rajini Sreenivasan, Christel Thauvin-Robinet, Atle Brendehaug, Sophie Thomas, Ove Bruland, Michel David, Marc Nicolino, Audrey Labalme, Damien Sanlaville, Patrick Callier, Valerie Malan, Frédéric Huet, Anders Molven, Frédérique Dijoud, Arnold Munnich, Laurence Faivre, Jeanne Amiel, Vincent Harley, Gunnar Houge, Yves Morel, Stanislas Lyonnet
• Original article: Pathogenic aberrations revealed exclusively by single nucleotide polymorphism (SNP) genotyping data in 5000 samples tested by molecular karyotyping (29 October, 2011)

  D L Bruno, S M White, D Ganesamoorthy, T Burgess, K Butler, S Corrie, D Francis, L Hills, K Prabhakara, C Ngo, F Norris, R Oertel, M D Pertile, Z Stark, D J Amor, H R Slater