TABLE OF CONTENTS

Volume 16, Issue 10 (October 2008)

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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

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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

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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

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Articles

A missense mutation in ALDH18A1, encoding Delta1-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

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