Table of contents

Original articles

• Duplications of the critical Rubinstein–Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome (14 October, 2009) Free

  Bernard Thienpont, Frédérique Béna, Jeroen Breckpot, Nicole Philip, Björn Menten, Hilde Van Esch, Emmanuel Scalais, Jessica M Salamone, Chin-To Fong, Jennifer L Kussmann, Dorothy K Grange, Jerome L Gorski, Farah Zahir, Siu Li Yong, Michael M Morris, Stefania Gimelli, Jean-Pierre Fryns, Geert Mortier, Jan M Friedman, Laurent Villard, Armand Bottani, Joris R Vermeesch, Sau Wai Cheung, Koen Devriendt
• A cohort study of recurrence patterns among more than 54 000 relatives of oral cleft cases in Denmark: support for the multifactorial threshold model of inheritance (14 September, 2009)

  Dorthe Grosen, Cécile Chevrier, Axel Skytthe, Camilla Bille, Kirsten Mølsted, Åse Sivertsen, Jeffrey C Murray, Kaare Christensen
• Genotype–phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis (20 October, 2009)

  Yvonne J Vos, Hermien E K de Walle, Krista K Bos, Jenneke A Stegeman, Annelies M ten Berge, Martijn Bruining, Merel C van Maarle, Mariet W Elting, Nicolette S den Hollander, Ben Hamel, Ana Maria Fortuna, Lone E M Sunde, Irene Stolte-Dijkstra, Connie T R M Schrander-Stumpel, Robert M W Hofstra
• A novel splice variant of the DNA-PKcs gene is associated with clinical and cellular radiosensitivity in a patient with xeroderma pigmentosum (24 September, 2009)

  Fatemeh Abbaszadeh, Peter H Clingen, Colin F Arlett, Piers N Plowman, Emma C Bourton, Matthew Themis, Evgeny M Makarov, Robert F Newbold, Michael H L Green, Christopher N Parris
• Renal tumour suppressor function of the Birt–Hogg–Dubé syndrome gene product folliculin (19 October, 2009)

  V Hudon, S Sabourin, A B Dydensborg, V Kottis, A Ghazi, M Paquet, K Crosby, V Pomerleau, N Uetani, A Pause
• Mutations of FUS gene in sporadic amyotrophic lateral sclerosis

  (26 October, 2009)

  Lucia Corrado, Roberto Del Bo, Barbara Castellotti, Antonia Ratti, Cristina Cereda, Silvana Penco, Gianni Sorarù, Yari Carlomagno, Serena Ghezzi, Viviana Pensato, Claudia Colombrita, Stella Gagliardi, Lorena Cozzi, Valeria Orsetti, Michelangelo Mancuso, Gabriele Siciliano, Letizia Mazzini, Giacomo Pietro Comi, Cinzia Gellera, Mauro Ceroni, Sandra D'Alfonso, Vincenzo Silani