European Journal of Human Genetics - Table of Contents alert Volume 21 Issue 5

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Long amplicon sequencing of 700-800 bp reads and beyond on the GS FLX+ System See what’s possible TABLE OF CONTENTS Volume 21, Issue 5 (May 2013) In this issue Editorial Policy Articles Short Reports Corrigendum Also new AOP Sign up for e-alerts Recommend to your library Web feed Subscribe Editorial Top EJHG to follow variation nomenclature and stimulate data reporting GertJan B van Ommen Eur J Hum Genet 2013 21: 479; 10.1038/ejhg.2013.54 Full Text Policy Top EMQN/CMGS best practice guidelines for the molecular genetic testing of Huntington diseaseEJHGOpen Monique Losekoot, Martine J van Belzen, Sara Seneca, Peter Bauer, Susan A R Stenhouse and David E Barton on behalf of the European Molecular Genetic Quality Network (EMQN) Eur J Hum Genet 2013 21: 480-486; advance online publication, September 19, 2012; 10.1038/ejhg.2012.200 Abstract | Full Text Articles Top Incomplete segregation of MYH11 variants with thoracic aortic aneurysms and dissections and patent ductus arteriosus Magdalena Harakalova, Jasper van der Smagt, Carolien G F de Kovel, Ruben van't Slot, Martin Poot, Isaac J Nijman, Jelena Medic, Irene Joziasse, Jaap Deckers, Jolien W Roos-Hesselink, Marja W Wessels, Hubert F Baars, Marjan M Weiss, Gerard Pals, Lisa Golmard, Xavier Jeunemaitre, Dick Lindhout, Edwin Cuppen and Annette F Baas Eur J Hum Genet 2013 21: 487-493; advance online publication, September 12, 2012; 10.1038/ejhg.2012.206 Abstract | Full Text Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A Eyal Reinstein, Sophia Frentz, Tim Morgan, Sixto García-Miñaúr, Richard J Leventer, George McGillivray, Mitchel Pariani, Anthony van der Steen, Michael Pope, Muriel Holder-Espinasse, Richard Scott, Elizabeth M Thompson, Terry Robertson, Brian Coppin, Robert Siegel, Montserrat Bret Zurita, Jose I Rodríguez, Carmen Morales, Yuri Rodrigues, Joaquín Arcas, Anand Saggar, Margaret Horton, Elaine Zackai, John M Graham, David L Rimoin and Stephen P Robertson Eur J Hum Genet 2013 21: 494-502; advance online publication, October 3, 2012; 10.1038/ejhg.2012.209 Abstract | Full Text Molecular alterations and expression of succinate dehydrogenase complex in wild-type KIT/PDGFRA/BRAF gastrointestinal stromal tumors Ricardo Celestino, Jorge Lima, Alexandra Faustino, João Vinagre, Valdemar Máximo, António Gouveia, Paula Soares and José Manuel Lopes Eur J Hum Genet 2013 21: 503-510; advance online publication, September 5, 2012; 10.1038/ejhg.2012.205 Abstract | Full Text Genetic variant in the telomerase gene modifies cancer risk in Lynch syndrome Fernando Bellido, Elisabet Guinó, Shantie Jagmohan-Changur, Nuria Seguí, Marta Pineda, Matilde Navarro, Conxi Lázaro, Ignacio Blanco, Hans FA Vasen, Victor Moreno, Gabriel Capellá, Juul T Wijnen and Laura Valle Eur J Hum Genet 2013 21: 511-516; advance online publication, September 5, 2012; 10.1038/ejhg.2012.204 Abstract | Full Text A rare variant in the osteoarthritis-associated locus GDF5 is functional and reveals a site that can be manipulated to modulate GDF5 expressionEJHGOpen Andrew W Dodd, Catherine M Syddall and John Loughlin Eur J Hum Genet 2013 21: 517-521; advance online publication, August 29, 2012; 10.1038/ejhg.2012.197 Abstract | Full Text 14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype Carolyn J Ellaway, Gladys Ho, Elisa Bettella, Alisa Knapman, Felicity Collins, Anna Hackett, Fiona McKenzie, Artur Darmanian, Gregory B Peters, Kerry Fagan and John Christodoulou Eur J Hum Genet 2013 21: 522-527; advance online publication, September 12, 2012; 10.1038/ejhg.2012.208 Abstract | Full Text Refractory epilepsy and mitochondrial dysfunction due to GM3 synthase deficiency Konstantina Fragaki, Samira Ait-El-Mkadem, Annabelle Chaussenot, Catherine Gire, Raymond Mengual, Laurent Bonesso, Marie Bénéteau, Jean-Ehrland Ricci, Valérie Desquiret-Dumas, Vincent Procaccio, Agnès Rötig and Véronique Paquis-Flucklinger Eur J Hum Genet 2013 21: 528-534; advance online publication, September 19, 2012; 10.1038/ejhg.2012.202 Abstract | Full Text Increased rate of missense/in-frame mutations in individuals with NF1-related pulmonary stenosis: a novel genotype–phenotype correlation Shay Ben-Shachar, Shlomi Constantini, Hen Hallevi, Emma K Sach, Meena Upadhyaya, Gareth D Evans and Susan M Huson Eur J Hum Genet 2013 21: 535-539; advance online publication, October 10, 2012; 10.1038/ejhg.2012.221 Abstract | Full Text Expanding the MTM1 mutational spectrum: novel variants including the first multi-exonic duplication and development of a locus-specific database Jorge Oliveira, Márcia E Oliveira, Wolfram Kress, Ricardo Taipa, Manuel Melo Pires, Pascale Hilbert, Peter Baxter, Manuela Santos, Henk Buermans, Johan T den Dunnen and Rosário Santos Eur J Hum Genet 2013 21: 540-549; advance online publication, September 12, 2012; 10.1038/ejhg.2012.201 Abstract | Full Text Stronger signal of recent selection for lactase persistence in Maasai than in Europeans Carina M Schlebusch, Per Sjödin, Pontus Skoglund and Mattias Jakobsson Eur J Hum Genet 2013 21: 550-553; advance online publication, September 5, 2012; 10.1038/ejhg.2012.199 Abstract | Full Text Genetic ancestry inference using support vector machines, and the active emergence of a unique American population Ryan J Haasl, Catherine A McCarty and Bret A Payseur Eur J Hum Genet 2013 21: 554-562; advance online publication, December 5, 2012; 10.1038/ejhg.2012.258 Abstract | Full Text Low-density lipoprotein receptor mutations generate synthetic genome-wide associations Daniëlla M Oosterveer, Jorie Versmissen, Joep C Defesche, Suthesh Sivapalaratnam, Mojgan Yazdanpanah, Monique Mulder, Leonie van der Zee, André G Uitterlinden, Cornelia M van Duijn, Albert Hofman, John J P Kastelein, Yurii S Aulchenko and Eric J G Sijbrands Eur J Hum Genet 2013 21: 563-566; advance online publication, September 12, 2012; 10.1038/ejhg.2012.207 Abstract | Full Text Short Reports Top Public support and consent preference for biomedical research and biobanking in Jordan Mamoun Ahram, Areej Othman and Manal Shahrouri Eur J Hum Genet 2013 21: 567-570; advance online publication, September 12, 2012; 10.1038/ejhg.2012.213 Abstract | Full Text A novel mitochondrial tRNA Arg mutation resulting in an anticodon swap in a patient with mitochondrial encephalomyopathy Sara Roos, Niklas Darin, Gittan Kollberg, Marita Andersson Grönlund, Mar Tulinius, Elisabeth Holme, Ali-Reza Moslemi and Anders Oldfors Eur J Hum Genet 2013 21: 571-573; advance online publication, July 11, 2012; 10.1038/ejhg.2012.153 Abstract | Full Text AKT1 fails to replicate as a longevity-associated gene in Danish and German nonagenarians and centenarians Marianne Nygaard, Mette Soerensen, Friederike Flachsbart, Jonas Mengel-From, Qihua Tan, Stefan Schreiber, Almut Nebel, Kaare Christensen and Lene Christiansen Eur J Hum Genet 2013 21: 574-577; advance online publication, August 29, 2012; 10.1038/ejhg.2012.196 Abstract | Full Text Corrigendum Top Genetic ancestry inference using support vector machines, and the active emergence of a unique American population Ryan J Haasl, Catherine A McCarty and Bret A Payseur Eur J Hum Genet 2013 21: 578; 10.1038/ejhg.2013.35 Full Text Natureevents is a fully searchable, multi-disciplinary database designed to maximise exposure for events organisers. 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