European Journal of Human Genetics - Table of Contents alert Volume 20 Issue 3

TABLE OF CONTENTS Volume 20, Issue 3 (March 2012) In this issue Practical Genetics Policy Articles Short Reports Clinical Utility Gene Cards Corrigendum 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. Read about our special introductory offer and download free information kit now. Advertisement Take a look at this recent article published in Cancer Gene Therapy:  The antitumor effects of adenoviral-mediated, intratumoral delivery of interleukin 23 require endogenous IL-12 FREE J Reay , A Gambotto & P D Robbins Cancer Gene Therapy ¦ doi:10.1038/cgt.2011.78     Practical Genetics Top Alagille syndrome: pathogenesis, diagnosis and management Peter D Turnpenny and Sian Ellard Eur J Hum Genet 2012 20: 251-257; advance online publication, September 21, 2011; 10.1038/ejhg.2011.181 Abstract | Full Text Policy Top Researchers’ opinions towards the communication of results of biobank research: a survey study Tineke M Meulenkamp, Sjef JK Gevers, Jasper A Bovenberg and Ellen MA Smets Eur J Hum Genet 2012 20: 258-262; advance online publication, November 30, 2011; 10.1038/ejhg.2011.216 Abstract | Full Text Articles Top Novel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndrome Bob Glaudemans, Helger G Yntema, Pedro San-Cristobal, Jeroen Schoots, Rolph Pfundt, Erik-J Kamsteeg, René J Bindels, Nine VAM Knoers, Joost G Hoenderop and Lies H Hoefsloot Eur J Hum Genet 2012 20: 263-270; advance online publication, October 19, 2011; 10.1038/ejhg.2011.189 Abstract | Full Text Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction Diana Braunholz, Melanie Hullings, María Concepcion Gil-Rodríguez, Christopher T Fincher, Mark B Mallozzi, Elizabeth Loy, Melanie Albrecht, Maninder Kaur, Janusz Limon, Abhinav Rampuria, Dinah Clark, Antonie Kline, Andreas Dalski, Juliane Eckhold, Andreas Tzschach, Raoul Hennekam, Gabriele Gillessen-Kaesbach, Jolanta Wierzba, Ian D Krantz, Matthew A Deardorff and Frank J Kaiser Eur J Hum Genet 2012 20: 271-276; advance online publication, September 21, 2011; 10.1038/ejhg.2011.175 Abstract | Full Text First description of ABCB4 gene deletions in familial low phospholipid-associated cholelithiasis and oral contraceptives-induced cholestasis Eric Pasmant, Philippe Goussard, Laetitia Baranes, Ingrid Laurendeau, Samuel Quentin, Philippe Ponsot, Yann Consigny, Olivier Farges, Bertrand Condat, Dominique Vidaud, Michel Vidaud, Jian-Min Chen and Béatrice Parfait Eur J Hum Genet 2012 20: 277-282; advance online publication, October 12, 2011; 10.1038/ejhg.2011.186 Abstract | Full Text Unique and atypical deletions in Prader–Willi syndrome reveal distinct phenotypes Soo-Jeong Kim, Jennifer L Miller, Paul J Kuipers, Jennifer Ruth German, Arthur L Beaudet, Trilochan Sahoo and Daniel J Driscoll Eur J Hum Genet 2012 20: 283-290; advance online publication, November 2, 2011; 10.1038/ejhg.2011.187 Abstract | Full Text ALK germline mutations in patients with neuroblastoma: a rare and weakly penetrant syndrome Franck Bourdeaut, Sandrine Ferrand, Laurence Brugières, Marjorie Hilbert, Agnès Ribeiro, Ludovic Lacroix, Jean Bénard, Valérie Combaret, Jean Michon, Dominique Valteau-Couanet, Bertrand Isidor, Xavier Rialland, Maryline Poirée, Anne-Sophie Defachelles, Michel Peuchmaur, Gudrun Schleiermacher, Gaëlle Pierron, Marion Gauthier-Villars, Isabelle Janoueix-Lerosey and Olivier Delattre on behalf of the Comité Neuroblastome of the Société Francaise de Cancérologie de l’Enfant Eur J Hum Genet 2012 20: 291-297; advance online publication, November 9, 2011; 10.1038/ejhg.2011.195 Abstract | Full Text Copy number detection in discordant monozygotic twins of Congenital Diaphragmatic Hernia (CDH) and Esophageal Atresia (EA) cohorts Danielle Veenma, Erwin Brosens, Elisabeth de Jong, Cees van de Ven, Connie Meeussen, Titia Cohen-Overbeek, Marjan Boter, Hubertus Eussen, Hannie Douben, Dick Tibboel and Annelies de Klein Eur J Hum Genet 2012 20: 298-304; advance online publication, November 9, 2011; 10.1038/ejhg.2011.194 Abstract | Full Text Underexpression and abnormal localization of ATM products in ataxia telangiectasia patients bearing ATM missense mutations Virginie Jacquemin, Guillaume Rieunier, Sandrine Jacob, Dorine Bellanger, Catherine Dubois d'Enghien, Anthony Laugé, Dominique Stoppa-Lyonnet and Marc-Henri Stern Eur J Hum Genet 2012 20: 305-312; advance online publication, November 9, 2011; 10.1038/ejhg.2011.196 Abstract | Full Text Neolithic patrilineal signals indicate that the Armenian plateau was repopulated by agriculturalists Kristian J Herrera, Robert K Lowery, Laura Hadden, Silvia Calderon, Carolina Chiou, Levon Yepiskoposyan, Maria Regueiro, Peter A Underhill and Rene J Herrera Eur J Hum Genet 2012 20: 313-320; advance online publication, November 16, 2011; 10.1038/ejhg.2011.192 Abstract | Full Text Determination of the real effect of genes identified in GWAS: the example of IL2RA in multiple sclerosis Marie-Claude Babron, Hervé Perdry, Adam E Handel, Sreeram V Ramagopalan, Vincent Damotte, Bertrand Fontaine, Bertram Müller-Myhsok, George C Ebers and Françoise Clerget-Darpoux Eur J Hum Genet 2012 20: 321-325; advance online publication, November 16, 2011; 10.1038/ejhg.2011.197 Abstract | Full Text Genome-wide pooling approach identifies SPATA5 as a new susceptibility locus for alopecia areata Lina M Forstbauer, Felix F Brockschmidt, Valentina Moskvina, Christine Herold, Silke Redler, Alexandra Herzog, Axel M Hillmer, Christian Meesters, Stefanie Heilmann, Florian Albert, Margrieta Alblas, Sandra Hanneken, Sibylle Eigelshoven, Kathrin A Giehl, Dagny Jagielska, Ulrike Blume-Peytavi, Natalie Garcia Bartels, Jennifer Kuhn, Hans Christian Hennies, Matthias Goebeler, Andreas Jung, Wiebke K Peitsch, Anne-Katrin Kortüm, Ingrid Moll, Roland Kruse, Gerhard Lutz, Hans Wolff, Bettina Blaumeiser, Markus Böhm, George Kirov, Tim Becker, Markus M Nöthen and Regina C Betz Eur J Hum Genet 2012 20: 326-332; advance online publication, October 26, 2011; 10.1038/ejhg.2011.185 Abstract | Full Text Genome-wide association study of coronary artery disease in the Japanese Fumihiko Takeuchi, Mitsuhiro Yokota, Ken Yamamoto, Eitaro Nakashima, Tomohiro Katsuya, Hiroyuki Asano, Masato Isono, Toru Nabika, Takao Sugiyama, Akihiro Fujioka, Nobuhisa Awata, Keizo Ohnaka, Masahiro Nakatochi, Hidetoshi Kitajima, Hiromi Rakugi, Jiro Nakamura, Takayoshi Ohkubo, Yutaka Imai, Kazuaki Shimamoto, Yukio Yamori, Shuhei Yamaguchi, Shotai Kobayashi, Ryoichi Takayanagi, Toshio Ogihara and Norihiro Kato Eur J Hum Genet 2012 20: 333-340; advance online publication, October 5, 2011; 10.1038/ejhg.2011.184 Abstract | Full Text Evolutionary conserved longevity genes and human cognitive abilities in elderly cohorts Lorna M Lopez, Sarah E Harris, Michelle Luciano, Dave Liewald, Gail Davies, Alan J Gow, Albert Tenesa, Antony Payton, Xiayi Ke, Lawrence J Whalley, Helen Fox, Paul Haggerty, William Ollier, Andrew Pickles, David J Porteous, Michael A Horan, Neil Pendleton, John M Starr and Ian J Deary Eur J Hum Genet 2012 20: 341-347; advance online publication, November 2, 2011; 10.1038/ejhg.2011.201 Abstract | Full Text Short Reports Top A multi-exon deletion within WWOX is associated with a 46,XY disorder of sex development Stefan White, Jacqueline Hewitt, Erin Turbitt, Yvonne van der Zwan, Remko Hersmus, Stenvert Drop, Peter Koopman, Vincent Harley, Martine Cools, Leendert Looijenga and Andrew Sinclair Eur J Hum Genet 2012 20: 348-351; advance online publication, November 9, 2011; 10.1038/ejhg.2011.204 Abstract | Full Text Intellectual disability associated with retinal dystrophy in the Xp11.3 deletion syndrome: ZNF674 on trial. Guilty or innocent? Nathalie Delphin, Sylvain Hanein, Lucas Fares Taie, Xavier Zanlonghi, Dominique Bonneau, Jean-Paul Moisan, Christine Boyle, Patrick Nitschke, Solenn Pruvost, Jean-Paul Bonnefont, Arnold Munnich, Olivier Roche, Josseline Kaplan and Jean-Michel Rozet Eur J Hum Genet 2012 20: 352-356; advance online publication, November 30, 2011; 10.1038/ejhg.2011.217 Abstract | Full Text The novel mitochondrial tRNAAsn gene mutation m.5709T>C produces ophthalmoparesis and respiratory impairment Dario Ronchi, Monica Sciacco, Andreina Bordoni, Monika Raimondi, Michela Ripolone, Elisa Fassone, Alessio Di Fonzo, Mafalda Rizzuti, Patrizia Ciscato, Alessandra Cosi, Maura Servida, Maurizio Moggio, Stefania Corti, Nereo Bresolin and Giacomo P Comi Eur J Hum Genet 2012 20: 357-360; advance online publication, December 21, 2011; 10.1038/ejhg.2011.238 Abstract | Full Text Skewed X inactivation and survival: a 13-year follow-up study of elderly twins and singletons Jonas Mengel-From, Mikael Thinggaard, Lene Christiansen, James W Vaupel, Karen Helene Ørstavik and Kaare Christensen Eur J Hum Genet 2012 20: 361-364; advance online publication, December 7, 2011; 10.1038/ejhg.2011.215 Abstract | Full Text Clinical Utility Gene Cards Top Clinical utility gene card for: Adrenoleukodystrophy Ernst Krasemann, Stephan Kemp and Andreas Gal Eur J Hum Genet 2012 20: ; advance online publication, November 9, 2011; 10.1038/ejhg.2011.193 Full Text Clinical utility gene card for: Trimethylaminuria Elizabeth A Shephard, Eileen P Treacy and Ian R Phillips Eur J Hum Genet 2012 20: ; advance online publication, November 30, 2011; 10.1038/ejhg.2011.214 Full Text Clinical utility gene card for: acrodermatitis enteropathica Sébastien Küry, Monia Kharfi, Sébastien Schmitt and Stéphane Bézieau Eur J Hum Genet 2012 20: ; advance online publication, December 14, 2011; 10.1038/ejhg.2011.227 Full Text Corrigendum Top Isolated NIPBL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction Diana Braunholz, Melanie Hullings, María Concepcion Gil-Rodríguez, Christopher T Fincher, Mark B Mallozzi, Elizabeth Loy, Melanie Albrecht, Maninder Kaur, Janusz Limon, Abhinav Rampuria, Dinah Clark, Antonie Kline, Andreas Dalski, Juliane Eckhold, Andreas Tzschach, Raoul Hennekam, Gabriele Gillessen-Kaesbach, Jolanta Wierzba, Ian D Krantz, Matthew A Deardorff and Frank J Kaiser Eur J Hum Genet 2012 20: 366; 10.1038/ejhg.2011.209 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. © 2012 Nature Publishing Group, a division of Macmillan Publishers Limited. All Rights Reserved.