European Journal of Human Genetics - Table of Contents alert Volume 20 Issue 11

TABLE OF CONTENTS Volume 20, Issue 11 (November 2012) In this issue News and Commentary Policy Articles Short Reports Book Reviews Also new AOP Advertisement NimbleGen SeqCap EZ Designs Join us for a Webinar, Oct 31 Discover more, sequence less using our designs: Comprehensive Cancer Panel, Neurology Panel, Soy Exome, and more. • Choose from multiple designs for your research • Minimize sequencing costs with our efficient capture • Discover more variants using our 2.1M probe libraries Register Now: Discover SeqCap EZ Designs Sign up for e-alerts Recommend to your library Web feed Subscribe Advertisement ATTENDING ASHG 2012 IN NOVEMBER? Don't forget to drop by Nature Publishing Group's Booth to pick up a free sample copy of the journal or meet and get some advice from Gert-Jan van Ommen, Editor-in-chief of The European Journal of Human Genetics!   News and Commentary Top Can (should) molecular diagnostic labs improve the quality of their services? Jean-Jacques Cassiman Eur J Hum Genet 2012 20: 1103-1104; advance online publication, June 27, 2012; 10.1038/ejhg.2012.126 Full Text Policy Top Toward a roadmap in global biobanking for health Jennifer R Harris, Paul Burton, Bartha Maria Knoppers, Klaus Lindpaintner, Marianna Bledsoe, Anthony J Brookes, Isabelle Budin-Ljøsne, Rex Chisholm, David Cox, Mylène Deschênes, Isabel Fortier, Pierre Hainaut, Robert Hewitt, Jane Kaye, Jan-Eric Litton, Andres Metspalu, Bill Ollier, Lyle J Palmer, Aarno Palotie, Markus Pasterk, Markus Perola, Peter H J Riegman, Gert-Jan van Ommen, Martin Yuille and Kurt Zatloukal Eur J Hum Genet 2012 20: 1105-1111; advance online publication, June 20, 2012; 10.1038/ejhg.2012.96 Abstract | Full Text Articles Top Attitudes of general practitioners and midwives towards ethnicity-based haemoglobinopathy-carrier screening Suze MPJ Jans, Ank de Jonge, Lidewij Henneman, Martina C Cornel and Antoinette LM Lagro-Janssen Eur J Hum Genet 2012 20: 1112-1117; advance online publication, May 2, 2012; 10.1038/ejhg.2012.72 Abstract | Full Text Quality assurance practices in Europe: a survey of molecular genetic testing laboratories Sarah Berwouts, Katrina Fanning, Michael A Morris, David E Barton and Elisabeth Dequeker Eur J Hum Genet 2012 20: 1118-1126; advance online publication, June 27, 2012; 10.1038/ejhg.2012.125 Abstract | Full Text Non-invasive prenatal diagnosis for fetal sex determination: benefits and disadvantages from the service users’ perspective Celine Lewis, Melissa Hill, Heather Skirton and Lyn S Chitty Eur J Hum Genet 2012 20: 1127-1133; advance online publication, March 28, 2012; 10.1038/ejhg.2012.50 Abstract | Full Text A novel homozygous p.Arg527Leu LMNA mutation in two unrelated Egyptian families causes overlapping mandibuloacral dysplasia and progeria syndrome Mohammad Al-Haggar, Agnieszka Madej-Pilarczyk, Lukasz Kozlowski, Janusz M Bujnicki, Sohier Yahia, Dina Abdel-Hadi, Amany Shams, Nermin Ahmad, Sahar Hamed and Monika Puzianowska-Kuznicka Eur J Hum Genet 2012 20: 1134-1140; advance online publication, May 2, 2012; 10.1038/ejhg.2012.77 Abstract | Full Text CNVs leading to fusion transcripts in individuals with autism spectrum disorder Richard Holt, Nuala H Sykes, Inês C Conceição, Jean-Baptiste Cazier, Richard JL Anney, Guiomar Oliveira, Louise Gallagher, Astrid Vicente, Anthony P Monaco and Alistair T Pagnamenta Eur J Hum Genet 2012 20: 1141-1147; advance online publication, May 2, 2012; 10.1038/ejhg.2012.73 Abstract | Full Text Mini-haplotypes as lineage informative SNPs and ancestry inference SNPs Andrew J Pakstis, Rixun Fang, Manohar R Furtado, Judith R Kidd and Kenneth K Kidd Eur J Hum Genet 2012 20: 1148-1154; advance online publication, April 25, 2012; 10.1038/ejhg.2012.69 Abstract | Full Text Genome-wide scan with nearly 700 000 SNPs in two Sardinian sub-populations suggests some regions as candidate targets for positive selection Ignazio Stefano Piras, Antonella De Montis, Carla Maria Calò, Monica Marini, Manuela Atzori, Laura Corrias, Marco Sazzini, Alessio Boattini, Giuseppe Vona and Licinio Contu Eur J Hum Genet 2012 20: 1155-1161; advance online publication, April 25, 2012; 10.1038/ejhg.2012.65 Abstract | Full Text Community of protein complexes impacts disease association Qianghu Wang, Weisha Liu, Shangwei Ning, Jingrun Ye, Teng Huang, Yan Li, Peng Wang, Hongbo Shi and Xia Li Eur J Hum Genet 2012 20: 1162-1167; advance online publication, May 2, 2012; 10.1038/ejhg.2012.74 Abstract | Full Text Pathway-based genome-wide association analysis of coronary heart disease identifies biologically important gene sets Lisa de las Fuentes, Wei Yang, Victor G Dávila-Román and C Charles Gu Eur J Hum Genet 2012 20: 1168-1173; advance online publication, April 18, 2012; 10.1038/ejhg.2012.66 Abstract | Full Text Meta-analysis of genetic association studies under heterogeneity Binod Neupane, Mark Loeb, Sonia S Anand and Joseph Beyene Eur J Hum Genet 2012 20: 1174-1181; advance online publication, May 30, 2012; 10.1038/ejhg.2012.75 Abstract | Full Text Symptom dimensions as alternative phenotypes to address genetic heterogeneity in schizophrenia and bipolar disorder Aurélie Labbe, Alexandre Bureau, Isabel Moreau, Marc-André Roy, Yvon Chagnon, Michel Maziade and Chantal Merette Eur J Hum Genet 2012 20: 1182-1188; advance online publication, April 25, 2012; 10.1038/ejhg.2012.67 Abstract | Full Text Short Reports Top Concomitant Brugada-like and short QT electrocardiogram linked to SCN5A mutation Kui Hong, Jinzhu Hu, Jianhua Yu and Ramon Brugada Eur J Hum Genet 2012 20: 1189-1192; advance online publication, April 11, 2012; 10.1038/ejhg.2012.63 Abstract | Full Text Autosomal dominant late-onset spinal motor neuronopathy is linked to a new locus on chromosome 22q11.2-q13.2 Sini Penttilä, Manu Jokela, Peter Hackman, Anna Maija Saukkonen, Jari Toivanen and Bjarne Udd Eur J Hum Genet 2012 20: 1193-1196; advance online publication, April 25, 2012; 10.1038/ejhg.2012.76 Abstract | Full Text De novo microduplication of the FMR1 gene in a patient with developmental delay, epilepsy and hyperactivity Jaime Vengoechea, Aditi S Parikh, Shulin Zhang and Flora Tassone Eur J Hum Genet 2012 20: 1197-1200; advance online publication, May 2, 2012; 10.1038/ejhg.2012.78 Abstract | Full Text Book Reviews Top Authors muscle in on history: The History of a Genetic Disease Duchenne Muscular Dystrophy or Meryon's disease Usha Kini and Deirdre Cilliers Eur J Hum Genet 2012 20: 1201; 10.1038/ejhg.2012.111 Full Text Deeper than the skin: Genetic Skin Disorders Vadakke Kanakath Ajith Kumar Eur J Hum Genet 2012 20: 1201; 10.1038/ejhg.2012.120 Full Text Black Swans and Bell Curves Barbara A Jennings Eur J Hum Genet 2012 20: 1202; 10.1038/ejhg.2012.118 Full Text Advertisement The European Journal of Human Genetics' most downloaded article in September Disease gene identification strategies for exome sequencing In this review, Christian Gilissen et al. discuss the current strategies for Mendelian disease gene identification by exome resequencing and conclude that exome strategies are successful and identify new Mendelian disease genes in approximately 60% of the projects. 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