TABLE OF CONTENTS
Volume 16, Issue 1 (January 2008)
News and Commentaries
Popper revisited: GWAS here, last year FREE
Gert-Jan B van Ommen
Eur J Hum Genet 16: 1-2; doi:10.1038/sj.ejhg.5201970
Diagnostic dilemma's: The congenital disorders of glycosylation are clinical chameleons FREE
David J Coman
Eur J Hum Genet 16: 2-4; doi:10.1038/sj.ejhg.5201962
Review
The impact of genetics and genomics on public health FREE
Angela Brand, Helmut Brand and Tobias Schulte in den Bäumen
Eur J Hum Genet 16: 5-13; advance online publication, October 24, 2007; doi:10.1038/sj.ejhg.5201942
Policy
Molecular screening for familial hypercholesterolaemia: consequences for life and disability insurance FREE
Sietske J M Homsma, Roeland Huijgen, Saskia Middeldorp, Eric J G Sijbrands and John J P Kastelein
Eur J Hum Genet 16: 14-17; advance online publication, October 24, 2007; doi:10.1038/sj.ejhg.5201940
Articles
8p23.1 duplication syndrome; a novel genomic condition with unexpected complexity revealed by array CGH FREE
John C K Barber, Viv K Maloney, Shuwen Huang, David J Bunyan, Lara Cresswell, Esther Kinning, Anna Benson, Tim Cheetham, Jonathan Wyllie, Sally Ann Lynch, Simon Zwolinski, Laura Prescott, Yanick Crow, Rob Morgan and Emma Hobson
Eur J Hum Genet 16: 18-27; advance online publication, October 17, 2007; doi:10.1038/sj.ejhg.5201932
Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation FREE
E Morava, D J Lefeber, Z Urban, L de Meirleir, P Meinecke, G Gillessen Kaesbach, J Sykut-Cegielska, M Adamowicz, I Salafsky, J Ranells, E Lemyre, J van Reeuwijk, H G Brunner and R A Wevers
Eur J Hum Genet 16: 28-35; advance online publication, October 31, 2007; doi:10.1038/sj.ejhg.5201947
Abnormal urethra formation in mouse models of Split-hand/split-foot malformation type 1 and type 4 FREE
Kentaro Suzuki, Ryuma Haraguchi, Tsutomu Ogata, Ottavia Barbieri, Olinda Alegria, Maxence Vieux-Rochas, Naomi Nakagata, Masataka Ito, Alea A Mills, Takeshi Kurita, Giovanni Levi and Gen Yamada
Eur J Hum Genet 16: 36-44; advance online publication, September 19, 2007; doi:10.1038/sj.ejhg.5201925
Comprehensive analysis of Wolf–Hirschhorn syndrome using array CGH indicates a high prevalence of translocations FREE
Sarah T South, Heidi Whitby, Agatino Battaglia, John C Carey and Arthur R Brothman
Eur J Hum Genet 16: 45-52; advance online publication, August 29, 2007; doi:10.1038/sj.ejhg.5201915
Simultaneous mutation scanning for gross deletions, duplications and point mutations in the DMD gene FREE
Emma J Ashton, Shu C Yau, Zandra C Deans and Stephen J Abbs
Eur J Hum Genet 16: 53-61; advance online publication, August 29, 2007; doi:10.1038/sj.ejhg.5201916
Homozygous PMS2 germline mutations in two families with early-onset haematological malignancy, brain tumours, HNPCC-associated tumours, and signs of neurofibromatosis type 1 FREE
Stefan Krüger, Miriam Kinzel, Constanze Walldorf, Sven Gottschling, Andrea Bier, Sigrid Tinschert, Arend von Stackelberg, Wolfram Henn, Heike Görgens, Stephanie Boue, Konrad Kölble, Reinhard Büttner and Hans K Schackert
Eur J Hum Genet 16: 62-72; advance online publication, September 12, 2007; doi:10.1038/sj.ejhg.5201923
Allele-specific regulation of primary cilia function by the von Hippel–Lindau tumor suppressor FREE
Martijn P Lolkema, Dorus A Mans, Laurien H Ulfman, Stefano Volpi, Emile E Voest and Rachel H Giles
Eur J Hum Genet 16: 73-78; advance online publication, October 3, 2007; doi:10.1038/sj.ejhg.5201930
Clinical and molecular genetics of patients with the Carney–Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD FREE
Barbara Pasini, Sarah R McWhinney, Thalia Bei, Ludmila Matyakhina, Sotirios Stergiopoulos, Michael Muchow, Sosipatros A Boikos, Barbara Ferrando, Karel Pacak, Guillaume Assie, Eric Baudin, Agnes Chompret, Jay W Ellison, Jean-Jacques Briere, Pierre Rustin, Anne-Paule Gimenez-Roqueplo, Charis Eng, J Aidan Carney and Constantine A Stratakis
Eur J Hum Genet 16: 79-88; advance online publication, August 1, 2007; doi:10.1038/sj.ejhg.5201904
Unexpected genetic heterogeneity in a large consanguineous Brazilian pedigree presenting deafness FREE
Karina Lezirovitz, Eliete Pardono, Maria T B de Mello Auricchio, Fernando L de Carvalho e Silva, Juliana J Lopes, Ronaldo S Abreu-Silva, Jihane Romanos, Ana C Batissoco and Regina C Mingroni-Netto
Eur J Hum Genet 16: 89-96; advance online publication, September 12, 2007; doi:10.1038/sj.ejhg.5201917
Mental deficiency in three families with SPG4 spastic paraplegia FREE
Pascale Ribaï, Christel Depienne, Estelle Fedirko, Anne-Catherine Jothy, Caterine Viveweger, Valérie Hahn-Barma, Alexis Brice and Alexandra Durr
Eur J Hum Genet 16: 97-104; advance online publication, October 24, 2007; doi:10.1038/sj.ejhg.5201922
Identification of a chromosome 8p locus for early-onset coronary heart disease in a French Canadian population FREE
James C Engert, Mathieu Lemire, Janet Faith, Diane Brisson, T Mary Fujiwara, Nicole M Roslin, Carl G Brewer, Alexandre Montpetit, Corinne Darmond-Zwaig, Yannick Renaud, Carole Doré, Swneke D Bailey, Andrei Verner, Gérald Tremblay, Julie St-Pierre, Christine Bétard, Jill Platko, John D Rioux, Kenneth Morgan, Thomas J Hudson and Daniel Gaudet
Eur J Hum Genet 16: 105-114; advance online publication, September 5, 2007; doi:10.1038/sj.ejhg.5201920
Population history and infrequent mutations: how old is a rare mutation? GUCY2D as a worked example FREE
Sylvain Hanein, Isabelle Perrault, Sylvie Gerber, Nathalie Delphin, David Benezra, Stavit Shalev, Rivka Carmi, Josué Feingold, Jean-Louis Dufier, Arnold Munnich, Josseline Kaplan, Jean-Michel Rozet and Marc Jeanpierre
Eur J Hum Genet 16: 115-123; advance online publication, August 8, 2007; doi:10.1038/sj.ejhg.5201905
New genetic evidence supports isolation and drift in the Ladin communities of the South Tyrolean Alps but not an ancient origin in the Middle East FREE
Mark G Thomas, Ian Barnes, Michael E Weale, Abigail L Jones, Peter Forster, Neil Bradman and Peter P Pramstaller
Eur J Hum Genet 16: 124-134; advance online publication, August 22, 2007; doi:10.1038/sj.ejhg.5201906
Short Report
Sex-specific interaction between APOE and APOA5 variants and determination of plasma lipid levels FREE
Jaroslav A Hubacek, V
ra Lánská, Zdena 
kodová, Vra Adámková and Rudolf Poledne
Eur J Hum Genet 16: 135-138; advance online publication, October 24, 2007; doi:10.1038/sj.ejhg.5201941
