Table of contents

Original articles

• Karyomapping: a universal method for genome wide analysis of genetic disease based on mapping crossovers between parental haplotypes (25 October, 2009)

  Alan H Handyside, Gary L Harton, Brian Mariani, Alan R Thornhill, Nabeel Affara, Marie-Anne Shaw, Darren K Griffin
• MERRF/MELAS overlap syndrome: a double pathogenic mutation in mitochondrial tRNA genes (7 July, 2010)

  M Nakamura, I Yabe, A Sudo, K Hosoki, H Yaguchi, S Saitoh, H Sasaki
• Mutations in PCDH21 cause autosomal recessive cone-rod dystrophy

  (30 August, 2010)

  E Ostergaard, M Batbayli, M Duno, K Vilhelmsen, T Rosenberg
• The severity of phenotype linked to SUCLG1 mutations could be correlated with residual amount of SUCLG1 protein

  (7 August, 2010)

  C Rouzier, S Le Guédard-Méreuze, K Fragaki, V Serre, J Miro, S Tuffery-Giraud, A Chaussenot, S Bannwarth, C Caruba, E Ostergaard, J-F Pellissier, C Richelme, C Espil, B Chabrol, V Paquis-Flucklinger
• Transcobalamin II receptor polymorphisms are associated with increased risk for neural tube defects (24 June, 2010)

  F Pangilinan, A Mitchell, J VanderMeer, A M Molloy, J Troendle, M Conley, P N Kirke, M Sutton, J M Sequeira, E V Quadros, J M Scott, J L Mills, L C Brody
• Germline mutations of the CBL gene define a new genetic syndrome with predisposition to juvenile myelomonocytic leukaemia

  (12 June, 2010)

  B Pérez, F Mechinaud, C Galambrun, N Ben Romdhane, B Isidor, N Philip, J Derain-Court, B Cassinat, J Lachenaud, S Kaltenbach, A Salmon, C Désirée, S Pereira, M L Menot, N Royer, O Fenneteau, A Baruchel, C Chomienne, A Verloes, H Cavé
• Colorectal adenomas and cancer link to chromosome 13q22.1–13q31.3 in a large family with excess colorectal cancer (3 June, 2010)

  Deborah W Neklason, Thérèse M Tuohy, Jeffery Stevens, Brith Otterud, Lisa Baird, Richard A Kerber, Wade S Samowitz, Scott K Kuwada, Mark F Leppert, Randall W Burt