TABLE OF CONTENTS
Volume 16, Issue 10 (October 2008)
Obituary
Victor McKusick, 1921–2008: the founder of medical genetics as we know it FREE
Giovanni Romeo
Eur J Hum Genet 16: 1161-1163; doi:10.1038/ejhg.2008.166
Review
Gene–environment interactions for complex traits: definitions, methodological requirements and challenges FREE
Astrid Dempfle, André Scherag, Rebecca Hein, Lars Beckmann, Jenny Chang-Claude and Helmut Schäfer
Eur J Hum Genet 16: 1164-1172; advance online publication, June 4, 2008; doi:10.1038/ejhg.2008.106
Letters
Is paternal age playing a role in the changing prevalence of Klinefelter syndrome? FREE
Amy S Herlihy and Jane Halliday
Eur J Hum Genet 16: 1173-1174; advance online publication, May 21, 2008; doi:10.1038/ejhg.2008.96
Reply to Herlihy and Halliday FREE
Joan Morris On behalf of the authors: Joan K Morris, Eva Alberman, Claire Scott, Patricia Jacobs
Eur J Hum Genet 16: 1174; advance online publication, May 21, 2008; doi:10.1038/ejhg.2008.99
Hypotheses in genome-wide association scans FREE
Michael Nothnagel, Timothy T Lu and Michael Krawczak
Eur J Hum Genet 16: 1174-1175; advance online publication, May 14, 2008; doi:10.1038/ejhg.2008.97
Reply to Nothnagel et al FREE
Gert Jan B van Ommen
Eur J Hum Genet 16: 1175; advance online publication, May 14, 2008; doi:10.1038/ejhg.2008.98
Articles
A missense mutation in ALDH18A1, encoding
1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome FREE
Louise S Bicknell, James Pitt, Salim Aftimos, Ram Ramadas, Marion A Maw and Stephen P Robertson
Eur J Hum Genet 16: 1176-1186; advance online publication, May 14, 2008; doi:10.1038/ejhg.2008.91
Position effect leading to haploinsufficiency in a mosaic ring chromosome 14 in a boy with autism FREE
Dries Castermans, Bernard Thienpont, Karolien Volders, An Crepel, Joris R Vermeesch, Connie T Schrander-Stumpel, Wim J M Van de Ven, Jean G Steyaert, John W M Creemers and Koen Devriendt
Eur J Hum Genet 16: 1187-1192; advance online publication, April 16, 2008; doi:10.1038/ejhg.2008.71
Family communication between children and their parents about inherited genetic conditions: a meta-synthesis of the research FREE
Alison Metcalfe, Jane Coad, Gill M Plumridge, Paramjit Gill and Peter Farndon
Eur J Hum Genet 16: 1193-1200; advance online publication, April 23, 2008; doi:10.1038/ejhg.2008.84
Uptake of genetic counselling and predictive DNA testing in hypertrophic cardiomyopathy FREE
Imke Christiaans, Erwin Birnie, Gouke J Bonsel, Arthur A M Wilde and Irene M van Langen
Eur J Hum Genet 16: 1201-1207; advance online publication, May 14, 2008; doi:10.1038/ejhg.2008.92
Regulations and practices of genetic counselling in 38 European countries: the perspective of national representatives FREE
Elina Rantanen, Marja Hietala, Ulf Kristoffersson, Irmgard Nippert, Jörg Schmidtke, Jorge Sequeiros and Helena Kääriäinen
Eur J Hum Genet 16: 1208-1216; advance online publication, May 14, 2008; doi:10.1038/ejhg.2008.93
An Internet-based external quality assessment in cytogenetics that audits a laboratory's analytical and interpretative performance FREE
Rosalind J Hastings, Eddy J Maher, Bettina Quellhorst-Pawley and Rodney T Howell
Eur J Hum Genet 16: 1217-1224; advance online publication, May 21, 2008; doi:10.1038/ejhg.2008.82
The effect of pedigree structure on detection of deletions and other null alleles FREE
Anna M Johansson and Torbjörn Säll
Eur J Hum Genet 16: 1225-1234; advance online publication, April 16, 2008; doi:10.1038/ejhg.2008.75
Frequent mutations in the 3'-untranslated region of IFNGR1 lack functional impairment in microsatellite-unstable colorectal tumours FREE
Jan Willem F Dierssen, Marjo van Puijenbroek, David A Dezentjé, Gert Jan Fleuren, Cees J Cornelisse, Tom van Wezel, Rienk Offringa and Hans Morreau
Eur J Hum Genet 16: 1235-1239; advance online publication, April 16, 2008; doi:10.1038/ejhg.2008.81
Identification of entire LMX1B gene deletions in nail patella syndrome: evidence for haploinsufficiency as the main pathogenic mechanism underlying dominant inheritance in man FREE
Ernie M H F Bongers, Ilse J de Wijs, Carlo Marcelis, Lies H Hoefsloot and Nine V A M Knoers
Eur J Hum Genet 16: 1240-1244; advance online publication, April 16, 2008; doi:10.1038/ejhg.2008.83
A cAMP-specific phosphodiesterase (PDE8B) that is mutated in adrenal hyperplasia is expressed widely in human and mouse tissues: a novel PDE8B isoform in human adrenal cortex FREE
Anelia Horvath, Christoforos Giatzakis, Kitman Tsang, Elizabeth Greene, Paulo Osorio, Sosipatros Boikos, Rossella Libè, Yianna Patronas, Audrey Robinson-White, Elaine Remmers, Jerôme Bertherat, Maria Nesterova and Constantine A Stratakis
Eur J Hum Genet 16: 1245-1253; advance online publication, April 23, 2008; doi:10.1038/ejhg.2008.85
Northwest Siberian Khanty and Mansi in the junction of West and East Eurasian gene pools as revealed by uniparental markers FREE
Ville N Pimenoff, David Comas, Jukka U Palo, Galina Vershubsky, Andrew Kozlov and Antti Sajantila
Eur J Hum Genet 16: 1254-1264; advance online publication, May 28, 2008; doi:10.1038/ejhg.2008.101
A homoplasmic mtDNA variant can influence the phenotype of the pathogenic m.7472Cins MTTS1 mutation: are two mutations better than one? FREE
Helen Swalwell, Emma L Blakely, Ruth Sutton, Kasia Tonska, Matthias Elstner, Langping He, Tanja Taivassalo, Dennis K Burns, Douglass M Turnbull, Ronald G Haller, Mercy M Davidson and Robert W Taylor
Eur J Hum Genet 16: 1265-1274; advance online publication, April 9, 2008; doi:10.1038/ejhg.2008.65
Confirmation of the genetic association between the U2AF homology motif (UHM) kinase 1 (UHMK1) gene and schizophrenia on chromosome 1q23.3 FREE
Vinay Puri, Andrew McQuillin, Susmita Datta, Khalid Choudhury, Jonathan Pimm, Srinivasa Thirumalai, Robert Krasucki, Jacob Lawrence, Digby Quested, Nicholas Bass, Caroline Crombie, Gillian Fraser, Nicholas Walker, Helen Moorey, Manaan Kar Ray, Akeem Sule, David Curtis, David St Clair and Hugh Gurling
Eur J Hum Genet 16: 1275-1282; advance online publication, April 16, 2008; doi:10.1038/ejhg.2008.76
The polymorphisms of protein-tyrosine phosphatase receptor-type delta gene and its association with pediatric asthma in the Taiwanese population FREE
Shyh-Dar Shyur, Jiu-Yao Wang, Cherry Guan-Ju Lin, Ya-Hsin Hsiao, Ya-Huei Liou, Ying-Jye Wu and Lawrence Shih-Hsin Wu
Eur J Hum Genet 16: 1283-1288; advance online publication, April 16, 2008; doi:10.1038/ejhg.2008.79

