Table of contents

Original articles

• Clinical and cellular characterisation of Hermansky–Pudlak syndrome type 6 (20 October, 2009)

  M Huizing, B Pederson, R A Hess, A Griffin, A Helip-Wooley, W Westbroek, H Dorward, K J O’Brien, G Golas, E Tsilou, J G White, W A Gahl
• Addition of pathology and biomarker information significantly improves the performance of the Manchester scoring system for BRCA1 and BRCA2 testing

  (18 June, 2009)

  D G R Evans, F Lalloo, A Cramer, E A Jones, F Knox, E Amir, A Howell
• Penetrance of marked cognitive impairment in older male carriers of the FMR1 gene premutation

  (18 June, 2009)

  M Sévin, Z Kutalik, S Bergman, M Vercelletto, P Renou, E Lamy, F J Vingerhoets, G Di Virgilio, P Boisseau, S Bezieau, L Pasquier, J-M Rival, J S Beckmann, P Damier, S Jacquemont
• Microdeletions including YWHAE in the Miller–Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment

  (6 July, 2009)

  S C Sreenath Nagamani, F Zhang, O A Shchelochkov, W Bi, Z Ou, F Scaglia, F J Probst, M Shinawi, C Eng, J V Hunter, S Sparagana, E Lagoe, C-T Fong, M Pearson, M Doco-Fenzy, E Landais, M Mozelle, A C Chinault, A Patel, C A Bacino, T Sahoo, S H Kang, S W Cheung, J R Lupski, P Stankiewicz
• Enhancer deletions of the SHOX gene as a frequent cause of short stature: the essential role of a 250 kb downstream regulatory domain

  (2 July, 2009)

  J Chen, G Wildhardt, Z Zhong, R Röth, B Weiss, D Steinberger, J Decker, W F Blum, G Rappold