European Journal of Human Genetics - Table of Contents alert Volume 21 Issue 1

TABLE OF CONTENTS Volume 21, Issue 1 (January 2013) In this issue Editorial Policy Practical Genetics Articles Short Reports Clinical Utility Gene Cards Update Book Review Corrigendum Also new AOP Sign up for e-alerts Recommend to your library Web feed Subscribe Advertisement Check out The EJHG’s most download paper of 2012  Disease gene identification strategies for exome sequencing Christian Gilissen, Alexander Hoischen, Han G Brunner and Joris A Veltman   In this review, the authors discuss the current strategies for Mendelian disease gene identification by exome resequencing.    Editorial Top The EuroGentest Clinical Utility Gene Cards continued Anna Dierking, Jörg Schmidtke, Gert Matthijs and Jean-Jacques Cassiman Eur J Hum Genet 2013 21: 1; 10.1038/ejhg.2012.161 Full Text Policy Top Developing a policy for paediatric biobanks: principles for good practiceEJHGOpen Kristien Hens, Carla E Van El, Pascal Borry, Anne Cambon-Thomsen, Martina C Cornel, Francesca Forzano, Anneke Lucassen, Christine Patch, Lisbeth Tranebjaerg, Eric Vermeulen, Elena Salvaterra, Aad Tibben and Kris Dierickx on behalf of the PPPC of the European Society of Human Genetics Eur J Hum Genet 2013 21: 2-7; advance online publication, June 20, 2012; 10.1038/ejhg.2012.99 Abstract | Full Text Practical Genetics Top Bardet–Biedl syndrome Elizabeth Forsythe and Philip L Beales Eur J Hum Genet 2013 21: 8-13; advance online publication, June 20, 2012; 10.1038/ejhg.2012.115 Abstract | Full Text Articles Top Publics and biobanks: Pan-European diversity and the challenge of responsible innovation George Gaskell, Herbert Gottweis, Johannes Starkbaum, Monica M Gerber, Jacqueline Broerse, Ursula Gottweis, Abbi Hobbs, Ilpo Helén, Maria Paschou, Karoliina Snell and Alexandra Soulier Eur J Hum Genet 2013 21: 14-20; advance online publication, June 6, 2012; 10.1038/ejhg.2012.104 Abstract | Full Text An urgent need for a change in policy revealed by a study on prenatal testing for Duchenne muscular dystrophyEJHGOpen Apollonia T J M Helderman-van den Enden, Kamlesh Madan, Martijn H Breuning, Annemieke H van der Hout, Egbert Bakker, Christine E M de Die-Smulders and Hendrika B Ginjaar Eur J Hum Genet 2013 21: 21-26; advance online publication, June 6, 2012; 10.1038/ejhg.2012.101 Abstract | Full Text Twenty-year trends in the prevalence of Down syndrome and other trisomies in Europe: impact of maternal age and prenatal screening Maria Loane, Joan K Morris, Marie-Claude Addor, Larraitz Arriola, Judith Budd, Berenice Doray, Ester Garne, Miriam Gatt, Martin Haeusler, Babak Khoshnood, Kari Klungsøyr Melve, Anna Latos-Bielenska, Bob McDonnell, Carmel Mullaney, Mary O'Mahony, Annette Queißer-Wahrendorf, Judith Rankin, Anke Rissmann, Catherine Rounding, Joaquin Salvador, David Tucker, Diana Wellesley, Lyubov Yevtushok and Helen Dolk Eur J Hum Genet 2013 21: 27-33; advance online publication, June 20, 2012; 10.1038/ejhg.2012.94 Abstract | Full Text Expanded spectrum of Pelizaeus–Merzbacher-like disease: literature revision and description of a novel GJC2 mutation in an unusually severe form Roberta Biancheri, Camillo Rosano, Laura Denegri, Eleonora Lamantea, Francesca Pinto, Federica Lanza, Mariasavina Severino and Mirella Filocamo Eur J Hum Genet 2013 21: 34-39; advance online publication, June 6, 2012; 10.1038/ejhg.2012.93 Abstract | Full Text Variable imprinting of the MEST gene in human preimplantation embryos John D Huntriss, Karen E Hemmings, Matthew Hinkins, Anthony J Rutherford, Roger G Sturmey, Kay Elder and Helen M Picton Eur J Hum Genet 2013 21: 40-47; advance online publication, July 4, 2012; 10.1038/ejhg.2012.102 Abstract | Full Text Impact of common regulatory single-nucleotide variants on gene expression profiles in whole blood Divya Mehta, Katharina Heim, Christian Herder, Maren Carstensen, Gertrud Eckstein, Claudia Schurmann, Georg Homuth, Matthias Nauck, Uwe Völker, Michael Roden, Thomas Illig, Christian Gieger, Thomas Meitinger and Holger Prokisch Eur J Hum Genet 2013 21: 48-54; advance online publication, June 13, 2012; 10.1038/ejhg.2012.106 Abstract | Full Text Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome Annette F Baas, Michael Gabbett, Milan Rimac, Minttu Kansikas, Martine Raphael, Rutger AJ Nievelstein, Wayne Nicholls, Johan Offerhaus, Danielle Bodmer, Annekatrin Wernstedt, Birgit Krabichler, Ulrich Strasser, Minna Nyström, Johannes Zschocke, Stephen P Robertson, Mieke M van Haelst and Katharina Wimmer Eur J Hum Genet 2013 21: 55-61; advance online publication, June 13, 2012; 10.1038/ejhg.2012.117 Abstract | Full Text Intravitreal delivery of AAV-NDI1 provides functional benefit in a murine model of Leber hereditary optic neuropathyEJHGOpen Naomi Chadderton, Arpad Palfi, Sophia Millington-Ward, Oliverio Gobbo, Nora Overlack, Matthew Carrigan, Mary O'Reilly, Matthew Campbell, Carsten Ehrhardt, Uwe Wolfrum, Peter Humphries, Paul F Kenna and G Jane Farrar Eur J Hum Genet 2013 21: 62-68; advance online publication, June 6, 2012; 10.1038/ejhg.2012.112 Abstract | Full Text A variant in the carboxyl-terminus of connexin 40 alters GAP junctions and increases risk for tetralogy of Fallot Valentina Guida, Rosangela Ferese, Marcella Rocchetti, Monica Bonetti, Anna Sarkozy, Serena Cecchetti, Vania Gelmetti, Francesca Lepri, Massimiliano Copetti, Giuseppe Lamorte, Maria Cristina Digilio, Bruno Marino, Antonio Zaza, Jeroen den Hertog, Bruno Dallapiccola and Alessandro De Luca Eur J Hum Genet 2013 21: 69-75; advance online publication, June 20, 2012; 10.1038/ejhg.2012.109 Abstract | Full Text Association between the 2-bp deletion polymorphism in the duplicated version of the alpha7 nicotinic receptor gene and P50 sensory gating Rachel H Flomen, Madiha Shaikh, Muriel Walshe, Katja Schulze, Mei-Hua Hall, Marco Picchioni, Fruhling Rijsdijk, Timothea Toulopoulou, Eugenia Kravariti, Robin M Murray, Philip Asherson, Andrew J Makoff and Elvira Bramon Eur J Hum Genet 2013 21: 76-81; advance online publication, May 16, 2012; 10.1038/ejhg.2012.81 Abstract | Full Text 12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech Julien Thevenon, Patrick Callier, Joris Andrieux, Bruno Delobel, Albert David, Sylvie Sukno, Delphine Minot, Laure Mosca Anne, Nathalie Marle, Damien Sanlaville, Marlène Bonnet, Alice Masurel-Paulet, Fabienne Levy, Lorraine Gaunt, Sandra Farrell, Cédric Le Caignec, Annick Toutain, Virginie Carmignac, Francine Mugneret, Jill Clayton-Smith, Christel Thauvin-Robinet and Laurence Faivre Eur J Hum Genet 2013 21: 82-88; advance online publication, June 20, 2012; 10.1038/ejhg.2012.116 Abstract | Full Text Small effective population size and genetic homogeneity in the Val Borbera isolate Vincenza Colonna, Giorgio Pistis, Lorenzo Bomba, Stefano Mona, Giuseppe Matullo, Rosa Boano, Cinzia Sala, Fiammetta Viganò, Antonio Torroni, Alessandro Achilli, Baharak Hooshiar Kashani, Giovanni Malerba, Giovanni Gambaro, Nicole Soranzo and Daniela Toniolo Eur J Hum Genet 2013 21: 89-94; advance online publication, June 20, 2012; 10.1038/ejhg.2012.113 Abstract | Full Text Hierarchical clustering analysis of blood plasma lipidomics profiles from mono- and dizygotic twin families Harmen HM Draisma, Theo H Reijmers, Jacqueline J Meulman, Jan van der Greef, Thomas Hankemeier and Dorret I Boomsma Eur J Hum Genet 2013 21: 95-101; advance online publication, June 20, 2012; 10.1038/ejhg.2012.110 Abstract | Full Text The C9ORF72 expansion mutation is a common cause of ALS+/−FTD in Europe and has a single founder Bradley N Smith, Stephen Newhouse, Aleksey Shatunov, Caroline Vance, Simon Topp, Lauren Johnson, Jack Miller, Younbok Lee, Claire Troakes, Kirsten M Scott, Ashley Jones, Ian Gray, Jamie Wright, Tibor Hortobágyi, Safa Al-Sarraj, Boris Rogelj, John Powell, Michelle Lupton, Simon Lovestone, Peter C Sapp, Markus Weber, Peter J Nestor, Helenius J Schelhaas, Anneloor ALM ten Asbroek, Vincenzo Silani, Cinzia Gellera, Franco Taroni, Nicola Ticozzi, Leonard Van den Berg, Jan Veldink, Phillip Van Damme, Wim Robberecht, Pamela J Shaw, Janine Kirby, Hardev Pall, Karen E Morrison, Alex Morris, Jacqueline de Belleroche, J M B Vianney de Jong, Frank Baas, Peter M Andersen, John Landers, Robert H Brown, Jr, Michael E Weale, Ammar Al-Chalabi and Christopher E Shaw Eur J Hum Genet 2013 21: 102-108; advance online publication, June 13, 2012; 10.1038/ejhg.2012.98 Abstract | Full Text Short Reports Top REGENT: a risk assessment and classification algorithm for genetic and environmental factors Daniel JM Crouch, Graham HM Goddard and Cathryn M Lewis Eur J Hum Genet 2013 21: 109-111; advance online publication, June 6, 2012; 10.1038/ejhg.2012.107 Abstract | Full Text Partial deletion of GLRB and GRIA2 in a patient with intellectual disability Karl Hackmann, Sarah Matko, Eva-Maria Gerlach, Maja von der Hagen, Barbara Klink, Evelin Schrock, Andreas Rump and Nataliya Di Donato Eur J Hum Genet 2013 21: 112-114; advance online publication, June 6, 2012; 10.1038/ejhg.2012.97 Abstract | Full Text A germline or de novo mutation in two families with Gaucher disease: implications for recessive disorders Hamid Saranjam, Sameer S Chopra, Harvey Levy, Barbara K Stubblefield, Emerson Maniwang, Ian J Cohen, Hagit Baris, Ellen Sidransky and Nahid Tayebi Eur J Hum Genet 2013 21: 115-117; advance online publication, June 20, 2012; 10.1038/ejhg.2012.105 Abstract | Full Text Clinical Utility Gene Cards Update Top Clinical utility gene card for: Lynch syndrome (MLH1, MSH2, MSH6, PMS2, EPCAM) - update 2012 Nils Rahner, Verena Steinke, Brigitte Schlegelberger, Francois Eisinger, Pierre Hutter and Sylviane Olschwang Eur J Hum Genet 2013 21: ; advance online publication, August 15, 2012; 10.1038/ejhg.2012.164 Full Text Clinical utility gene card for: MUTYH-associated polyposis (MAP), Autosomal recessive colorectal adenomatous polyposis, Multiple colorectal adenomas, Multiple adenomatous polyps (MAP) - update 2012 Stefan Aretz, Maurizio Genuardi and Frederik J Hes Eur J Hum Genet 2013 21: ; advance online publication, August 8, 2012; 10.1038/ejhg.2012.163 Full Text Clinical utility gene card for: Ehlers–Danlos syndrome types I–VII and variants - update 2012 Karin Mayer, Ingo Kennerknecht and Beat Steinmann Eur J Hum Genet 2013 21: ; advance online publication, August 15, 2012; 10.1038/ejhg.2012.162 Full Text Book Review Top A guide to cancer genetics in clinical practice Dominique Stoppa-Lyonnet Eur J Hum Genet 2013 21: 120; 10.1038/ejhg.2011.69 Full Text Corrigendum Top Publics and biobanks: Pan-European diversity and the challenge of responsible innovation George Gaskell, Herbert Gottweis, Johannes Starkbaum, Monica M Gerber, Jacqueline Broerse, Ursula Gottweis, Abbi Hobbs, Ilpo Helén, Maria Pashou, Karoliina Snell and Alexandra Soulier Eur J Hum Genet 2013 21: 121; 10.1038/ejhg.2012.236 Full Text Advertisement Benefits of publishing the European Journal of Human Genetics - Online submission - reducing publication times - Comprehensive peer review by renowned editorial team - Open access publication option - Inclusion in the leading abstracting and indexing services - High visibility for your research  Submit your research using our online submission site    Natureevents is a fully searchable, multi-disciplinary database designed to maximise exposure for events organisers. 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