Table of contents

Original articles

• Current clinical criteria for Lynch syndrome are not sensitive enough to identify MSH6 mutation carriers

  (28 June, 2010)

  Wenche Sjursen, Bjørn Ivar Haukanes, Eli Marie Grindedal, Harald Aarset, Astrid Stormorken, Lars F Engebretsen, Christoffer Jonsrud, Inga Bjørnevoll, Per Arne Andresen, Sarah Ariansen, Liss Anne S Lavik, Bodil Gilde, Inger Marie Bowitz-Lothe, Lovise Mæhle, Pål Møller
• Identification of clinically significant, submicroscopic chromosome alterations and UPD in fetuses with ultrasound anomalies using genome-wide 250k SNP array analysis (24 June, 2010)

  B H W Faas, I van der Burgt, A J A Kooper, R Pfundt, J Y Hehir-Kwa, A P T Smits, N de Leeuw
• STXBP2 mutations in children with familial haemophagocytic lymphohistiocytosis type 5 (26 August, 2010)

  Valentina Cetica, Alessandra Santoro, Kimberly C Gilmour, Elena Sieni, Karin Beutel, Daniela Pende, Stefania Marcenaro, Florian Koch, Samantha Grieve, Rachel Wheeler, Fang Zhao, Udo zur Stadt, Gillian M Griffiths, Maurizio Aricò
• Non-recurrent SEPT9 duplications cause hereditary neuralgic amyotrophy

  (25 November, 2009)

  A M B Collie, M L Landsverk, E Ruzzo, H C Mefford, K Buysse, J R Adkins, D M Knutzen, K Barnett, R H Brown, G J Parry, S W Yum, D A Simpson, R K Olney, P F Chinnery, E E Eichler, P F Chance, M C Hannibal
• Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene

  (20 July, 2010)

  Merel S Ebberink, Barbara Csanyi, Wui K Chong, Simone Denis, Peter Sharp, Petra A W Mooijer, Conny J M Dekker, Claire Spooner, Lock H Ngu, Carlos De Sousa, Ronald J A Wanders, Michael J Fietz, Peter T Clayton, Hans R Waterham, Sacha Ferdinandusse
• Functional evaluation of missense variations in the human MAD1L1 and MAD2L1 genes and their impact on susceptibility to lung cancer

  (1 June, 2010)

  Yongli Guo, Xuemei Zhang, Ming Yang, Xiaoping Miao, Yuankai Shi, Jiarui Yao, Wen Tan, Tong Sun, Dan Zhao, Dianke Yu, Junniao Liu, Dongxin Lin
• Clinical characterisation of 29 neurofibromatosis type-1 patients with molecularly ascertained 1.4 Mb type-1 NF1 deletions

  (12 June, 2010)

  V-F Mautner, L Kluwe, R E Friedrich, A C Roehl, S Bammert, J Högel, H Spöri, D N Cooper, H Kehrer-Sawatzki
• Multiple cutaneous squamous cell carcinomas in a patient with interferon γ receptor 2 (IFNγR2) deficiency (28 June, 2010)

  Hidemi Toyoda, Masaru Ido, Kyoichi Nakanishi, Takashi Nakano, Hitoshi Kamiya, Akihiko Matsumine, Atsumasa Uchida, Hitoshi Mizutani, Ludovic de Beaucoudrey, Guillaume Vogt, Stéphanie Boisson-Dupuis, Jacinta Bustamante, Jean-Laurent Casanova, Yoshihiro Komada