European Journal of Human Genetics - Table of Contents alert Volume 20 Issue 1

TABLE OF CONTENTS Volume 20, Issue 1 (January 2012) In this issue Letters Articles Short Reports Clinical Utility Gene Cards Also new AOP Advertisement Accelerate Your Next-Generation Sequencing Sample QC. The new Agilent 2200 TapeStation system offers researchers a new level of confidence in their sample and library quality control. Designed for scalability, speed and simplicity, the system provides results in approximately one minute per sample, even for 96 samples. Learn more and download your free information kit. Sign up for e-alerts Recommend to your library Web feed Subscribe Advertisement   Letters Top No evidence of association between complement factor I genetic variant rs10033900 and age-related macular degeneration Valentina Cipriani, Baljinder K Matharu, Jane C Khan, Humma Shahid, Caroline Hayward, Alan F Wright, Ana Maria Armbrecht, Baljean Dhillon, Simon P Harding, Paul N Bishop, Catey Bunce, David G Clayton, Anthony T Moore and John RW Yates Eur J Hum Genet 2012 20: 1-2; advance online publication, October 12, 2011; 10.1038/ejhg.2011.118 Full Text Reply to Cipriani et al Jesen A Fagerness, Yi Yu, Julian B Maller, Benjamin M Neale, Robyn C Reynolds, Mark J Daly and Johanna M Seddon Eur J Hum Genet 2012 20: 3; advance online publication, October 12, 2011; 10.1038/ejhg.2011.177 Full Text Articles Top Attitudes to reproductive genetic testing in women who had a positive BRCA test before having children: a qualitative analysis Elizabeth Ormondroyd, Louise Donnelly, Clare Moynihan, Cornelie Savona, Elizabeth Bancroft, D Gareth Evans, Rosalind Eeles, Stuart Lavery and Maggie Watson Eur J Hum Genet 2012 20: 4-10; advance online publication, August 3, 2011; 10.1038/ejhg.2011.146 Abstract | Full Text EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta Fleur S van Dijk, Peter H Byers, Raymond Dalgleish, Fransiska Malfait, Alessandra Maugeri, Marianne Rohrbach, Sofie Symoens, Erik A Sistermans and Gerard Pals Eur J Hum Genet 2012 20: 11-19; advance online publication, August 10, 2011; 10.1038/ejhg.2011.141 Abstract | Full Text Discrepancies in reporting the CAG repeat lengths for Huntington's disease Oliver W Quarrell, Olivia Handley, Kirsty O'Donovan, Christine Dumoulin, Maria Ramos-Arroyo, Ida Biunno, Peter Bauer, Margaret Kline and G Bernhard Landwehrmeyer on behalf of the European Huntington's Disease Network Eur J Hum Genet 2012 20: 20-26; advance online publication, August 3, 2011; 10.1038/ejhg.2011.136 Abstract | Full Text Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72 400 specimens Elaine A Sugarman, Narasimhan Nagan, Hui Zhu, Viatcheslav R Akmaev, Zhaoqing Zhou, Elizabeth M Rohlfs, Kerry Flynn, Brant C Hendrickson, Thomas Scholl, Deborah Alexa Sirko-Osadsa and Bernice A Allitto Eur J Hum Genet 2012 20: 27-32; advance online publication, August 3, 2011; 10.1038/ejhg.2011.134 Abstract | Full Text Fine-grained facial phenotype–genotype analysis in Wolf–Hirschhorn syndrome Peter Hammond, Femke Hannes, Michael Suttie, Koen Devriendt, Joris Robert Vermeesch, Francesca Faravelli, Francesca Forzano, Susan Parekh, Steve Williams, Dominic McMullan, Sarah T South, John C Carey and Oliver Quarrell Eur J Hum Genet 2012 20: 33-40; advance online publication, July 27, 2011; 10.1038/ejhg.2011.135 Abstract | Full Text Unexpanded and intermediate CAG polymorphisms at the SCA2 locus (ATXN2) in the Cuban population: evidence about the origin of expanded SCA2 alleles José Miguel Laffita-Mesa, Luis C Velázquez-Pérez, Nieves Santos Falcón, Tania Cruz-Mariño, Yanetza González Zaldívar, Yaimee Vázquez Mojena, Dennis Almaguer-Gotay, Luis Enrique Almaguer Mederos and Roberto Rodríguez Labrada Eur J Hum Genet 2012 20: 41-49; advance online publication, September 21, 2011; 10.1038/ejhg.2011.154 Abstract | Full Text Advances in Alport syndrome diagnosis using next-generation sequencing Rosangela Artuso, Chiara Fallerini, Laura Dosa, Francesca Scionti, Maurizio Clementi, Guido Garosi, Laura Massella, Maria Carmela Epistolato, Roberta Mancini, Francesca Mari, Ilaria Longo, Francesca Ariani, Alessandra Renieri and Mirella Bruttini Eur J Hum Genet 2012 20: 50-57; advance online publication, September 7, 2011; 10.1038/ejhg.2011.164 Abstract | Full Text A mild form of Mucopolysaccharidosis IIIB diagnosed with targeted next-generation sequencing of linked genomic regions Kaja K Selmer, Gregor D Gilfillan, Petter Strømme, Robert Lyle, Timothy Hughes, Hanne S Hjorthaug, Kristin Brandal, Sigve Nakken, Doriana Misceo, Thore Egeland, Ludvig A Munthe, Sigrun K Braekken and Dag E Undlien Eur J Hum Genet 2012 20: 58-63; advance online publication, June 29, 2011; 10.1038/ejhg.2011.126 Abstract | Full Text C1q enhances cone photoreceptor survival in a mouse model of autosomal recessive retinitis pigmentosa Marian M Humphries, Paul F Kenna, Matthew Campbell, Lawrence C S Tam, Anh T H Nguyen, G Jane Farrar, Marina Botto, Anna Sophia Kiang and Peter Humphries Eur J Hum Genet 2012 20: 64-68; advance online publication, August 24, 2011; 10.1038/ejhg.2011.151 Abstract | Full Text Transgenic complementation of MeCP2 deficiency: phenotypic rescue of Mecp2-null mice by isoform-specific transgenes Bredford Kerr, Jessica Soto C, Mauricio Saez, Alexander Abrams, Katherina Walz and Juan I Young Eur J Hum Genet 2012 20: 69-76; advance online publication, August 10, 2011; 10.1038/ejhg.2011.145 Abstract | Full Text Sequencing of high-complexity DNA pools for identification of nucleotide and structural variants in regions associated with complex traits Ghazal Zaboli, Adam Ameur, Wilmar Igl, Åsa Johansson, Caroline Hayward, Veronique Vitart, Susan Campbell, Lina Zgaga, Ozren Polasek, Gerd Schmitz, Cornelia van Duijn, Ben Oostra, Peter Pramstaller, Andrew Hicks, Tomas Meitinger, Igor Rudan, Alan Wright, James F Wilson, Harry Campbell and Ulf Gyllensten for the EUROSPAN Consortium Eur J Hum Genet 2012 20: 77-83; advance online publication, August 3, 2011; 10.1038/ejhg.2011.138 Abstract | Full Text A genome-wide study of panic disorder suggests the amiloride-sensitive cation channel 1 as a candidate gene Noomi Gregersen, Hans A Dahl, Henriette N Buttenschøn, Mette Nyegaard, Anne Hedemand, Thomas D Als, August G Wang, Sofus Joensen, David PD Woldbye, Pernille Koefoed, Ann S Kristensen, Torben A Kruse, Anders D Børglum and Ole Mors Eur J Hum Genet 2012 20: 84-90; advance online publication, August 3, 2011; 10.1038/ejhg.2011.148 Abstract | Full Text Evidence of linkage to chromosomes 10p15.3–p15.1, 14q24.3–q31.1 and 9q33.3–q34.3 in non-syndromic colorectal cancer families Ian W Saunders, Jason Ross, Finlay Macrae, Graeme P Young, Ignacio Blanco, Jesper Brohede, Glenn Brown, Diana Brookes, Trevor Lockett, Peter L Molloy, Victor Moreno, Gabriel Capella and Garry N Hannan Eur J Hum Genet 2012 20: 91-96; advance online publication, August 10, 2011; 10.1038/ejhg.2011.149 Abstract | Full Text A systematic eQTL study of cis–trans epistasis in 210 HapMap individuals Jessica Becker, Jens R Wendland, Britta Haenisch, Markus M Nöthen and Johannes Schumacher Eur J Hum Genet 2012 20: 97-101; advance online publication, August 17, 2011; 10.1038/ejhg.2011.156 Abstract | Full Text Natural positive selection and north–south genetic diversity in East Asia Chen Suo, Haiyan Xu, Chiea-Chuen Khor, Rick TH Ong, Xueling Sim, Jieming Chen, Wan-Ting Tay, Kar-Seng Sim, Yi-Xin Zeng, Xuejun Zhang, Jianjun Liu, E-Shyong Tai, Tien-Yin Wong, Kee-Seng Chia and Yik-Ying Teo Eur J Hum Genet 2012 20: 102-110; advance online publication, July 27, 2011; 10.1038/ejhg.2011.139 Abstract | Full Text Brazilian urban population genetic structure reveals a high degree of admixture Suely R Giolo, Júlia M P Soler, Steven C Greenway, Marcio A A Almeida, Mariza de Andrade, J G Seidman, Christine E Seidman, José E Krieger and Alexandre C Pereira Eur J Hum Genet 2012 20: 111-116; advance online publication, August 24, 2011; 10.1038/ejhg.2011.144 Abstract | Full Text Short Reports Top Coronary artery disease in Alström syndrome Kumar Jatti, Richard Paisey and Ranjit More Eur J Hum Genet 2012 20: 117-118; advance online publication, September 7, 2011; 10.1038/ejhg.2011.168 Abstract | Full Text No evidence for pathogenic variants or maternal effect of ZFP57 as the cause of Beckwith–Wiedemann Syndrome Susanne E Boonen, Johanne M D Hahnemann, Deborah Mackay, Niels Tommerup, Karen Brøndum-Nielsen, Zeynep Tümer and Karen Grønskov Eur J Hum Genet 2012 20: 119-121; advance online publication, August 24, 2011; 10.1038/ejhg.2011.140 Abstract | Full Text Serpentine fibula polycystic kidney syndrome is part of the phenotypic spectrum of Hajdu–Cheney syndrome Mary J Gray, Chong Ae Kim, Debora Romeo Bertola, Paula Ricci Arantes, Helen Stewart, Michael A Simpson, Melita D Irving and Stephen P Robertson Eur J Hum Genet 2012 20: 122-124; advance online publication, June 29, 2011; 10.1038/ejhg.2011.125 Abstract | Full Text Identification of the first PAR1 deletion encompassing upstream SHOX enhancers in a family with idiopathic short stature Sara Benito-Sanz, Miriam Aza-Carmona, Amaya Rodríguez-Estevez, Ixaso Rica-Etxebarria, Ricardo Gracia, Ángel Campos-Barros and Karen E Heath Eur J Hum Genet 2012 20: 125-127; advance online publication, November 9, 2011; 10.1038/ejhg.2011.210 Abstract | Full Text Clinical Utility Gene Cards Top Clinical utility gene card for: Alveolar rhabdomyosarcoma Zhongxin Yu, Anna Kelsey, Rita Alaggio and David Parham Eur J Hum Genet 2012 20: ; advance online publication, August 10, 2011; 10.1038/ejhg.2011.147 Full Text Clinical utility gene card for: Mucopolysaccharidosis type II Michael Beck, Frits A Wijburg and Andreas Gal Eur J Hum Genet 2012 20: ; advance online publication, August 24, 2011; 10.1038/ejhg.2011.143 Full Text Clinical utility gene card for: multiple endocrine neoplasia type 2 Friedhelm Raue, Susanne Rondot, Egbert Schulze, Sylwia Szpak-Ulczok, Barbara Jarzab and Karin Frank-Raue Eur J Hum Genet 2012 20: ; advance online publication, August 24, 2011; 10.1038/ejhg.2011.142 Full Text Advertisement Free for everyone: Clinical Utility Gene Cards Bringing together information regarding a specific disease and providing clinicians with guidance on genetic testing for hereditary conditions in real settings of clinical genetic services. Read the series for FREE.   Natureevents is a fully searchable, multi-disciplinary database designed to maximise exposure for events organisers. The contents of the Natureevents Directory are now live. The digital version is available here. Find the latest scientific conferences, courses, meetings and symposia on natureevents.com. For event advertising opportunities across the Nature Publishing Group portfolio please contact natureevents@nature.com More Nature Events Please note that you need to be a subscriber or site-licence holder to enjoy full-text access to European Journal of Human Genetics. In order to do so, please purchase a subscription. You have been sent this Table of Contents Alert because you have opted in to receive it. You can change or discontinue your e-mail alerts at any time, by modifying your preferences on your nature.com account at: www.nature.com/nams/svc/myaccount (You will need to log in to be recognised as a nature.com registrant). For further technical assistance, please contact our registration department. For print subscription enquiries, please contact our subscription department. For other enquiries, please contact our customer feedback department. Nature Publishing Group | 75 Varick Street, 9th Floor | New York | NY 10013-1917 | USA Nature Publishing Group's worldwide offices: London - Paris - Munich - New Delhi - Tokyo - Melbourne San Diego - San Francisco - Washington - New York - Boston Macmillan Publishers Limited is a company incorporated in England and Wales under company number 785998 and whose registered office is located at Brunel Road, Houndmills, Basingstoke, Hampshire RG21 6XS. © 2011 Nature Publishing Group, a division of Macmillan Publishers Limited. All Rights Reserved.