Table of contents

Original articles

• Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes (7 May, 2010)

  Damien L Bruno, Britt-Marie Anderlid, Anna Lindstrand, Conny van Ravenswaaij-Arts, Devika Ganesamoorthy, Johanna Lundin, Christa Lese Martin, Jessica Douglas, Catherine Nowak, Margaret P Adam, R Frank Kooy, Nathalie Van der Aa, Edwin Reyniers, Geert Vandeweyer, Irene Stolte-Dijkstra, Trijnie Dijkhuizen, Alison Yeung, Martin Delatycki, Birgit Borgström, Lena Thelin, Carlos Cardoso, Bregje van Bon, Rolph Pfundt, Bert B A de Vries, Anders Wallin, David J Amor, Paul A James, Howard R Slater, Jacqueline Schoumans
• Partial 7q11.23 deletions further implicate GTF2I and GTF2IRD1 as the main genes responsible for the Williams–Beuren syndrome neurocognitive profile

  (5 November, 2009)

  A Antonell, M Del Campo, L F Magano, L Kaufmann, J Martínez de la Iglesia, F Gallastegui, R Flores, U Schweigmann, C Fauth, D Kotzot, L A Pérez-Jurado
• Comprehensive genotype–phenotype analysis in 230 patients with tetralogy of Fallot (30 November, 2009)

  Ralf Rauch, Michael Hofbeck, Christiane Zweier, Andreas Koch, Stefan Zink, Udo Trautmann, Juliane Hoyer, Renate Kaulitz, Helmut Singer, Anita Rauch
• Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size (12 November, 2009)

  Marwan Shinawi, Pengfei Liu, Sung-Hae L Kang, Joseph Shen, John W Belmont, Daryl A Scott, Frank J Probst, William J Craigen, Brett H Graham, Amber Pursley, Gary Clark, Jennifer Lee, Monica Proud, Amber Stocco, Diana L Rodriguez, Beth A Kozel, Steven Sparagana, Elizabeth R Roeder, Susan G McGrew, Thaddeus W Kurczynski, Leslie J Allison, Stephen Amato, Sarah Savage, Ankita Patel, Pawel Stankiewicz, Arthur L Beaudet, Sau Wai Cheung, James R Lupski
• Constitutional translocation breakpoint mapping by genome-wide paired-end sequencing identifies HACE1 as a putative Wilms tumour susceptibility gene

  (30 November, 2009)

  I Slade, P Stephens, J Douglas, K Barker, L Stebbings, F Abbaszadeh, K Pritchard-Jones, FACT collaboration, R Cole, B Pizer, C Stiller, G Vujanic, R H Scott, M R Stratton, N Rahman