European Journal of Human Genetics - Table of Contents alert Volume 21 Issue 11

Advertisement The easiest NGS Library preparation you will ever find! Accurate library prep from picograms Simple 3-step protocol Perfect compatibility with ChIP samples down to 10,000 cells Automatable with the IP-Star Automation System Learn more about Diagenode's MicroChIP and MicroPlex system. TABLE OF CONTENTS Volume 21, Issue 11 (November 2013) In this issue Viewpoint Articles Short Reports Clinical Utility Gene Cards Updates Meeting Report Book Review Also new AOP Advertisement Circulation: Cardiovascular Genetics is the #1 journal dedicated to cardiovascular genetics, genomics, and systems biology. Join an esteemed roster of your peers - submit your manuscript for publication in Circulation: Cardiovascular Genetics today. Visit the journal's Information for Authors to learn about preferred article types and how to submit. Sign up for e-alerts Recommend to your library Web feed Subscribe 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  Viewpoint Top Controlling complexity: the clinical relevance of mouse complex genetics Klaus Schughart, Claude Libert, SYSGENET consortium and Martien J Kas Eur J Hum Genet 2013 21: 1191-1196; advance online publication, May 1, 2013; 10.1038/ejhg.2013.79 Abstract | Full Text Articles Top Citizens' perspectives on personalized medicine: a qualitative public deliberation study Yvonne Bombard, Julia Abelson, Dorina Simeonov and Francois-Pierre Gauvin Eur J Hum Genet 2013 21: 1197-1201; advance online publication, January 23, 2013; 10.1038/ejhg.2012.300 Abstract | Full Text Eliciting preferences for priority setting in genetic testing: a pilot study comparing best-worst scaling and discrete-choice experiments Franziska Severin, Jörg Schmidtke, Axel Mühlbacher and Wolf H Rogowski Eur J Hum Genet 2013 21: 1202-1208; advance online publication, March 13, 2013; 10.1038/ejhg.2013.36 Abstract | Full Text Understanding the impact of genetic testing for inherited retinal dystrophy Ryan Combs, Marion McAllister, Katherine Payne, Jo Lowndes, Sophie Devery, Andrew R Webster, Susan M Downes, Anthony T Moore, Simon Ramsden, Graeme Black and Georgina Hall Eur J Hum Genet 2013 21: 1209-1213; advance online publication, February 13, 2013; 10.1038/ejhg.2013.19 Abstract | Full Text Mutations in phospholipase DDHD2 cause autosomal recessive hereditary spastic paraplegia (SPG54) Michael Gonzalez, Sheela Nampoothiri, Cornelia Kornblum, Andrés Caballero Oteyza, Jochen Walter, Ioanna Konidari, William Hulme, Fiorella Speziani, Ludger Schöls, Stephan Züchner and Rebecca Schüle Eur J Hum Genet 2013 21: 1214-1218; advance online publication, March 13, 2013; 10.1038/ejhg.2013.29 Abstract | Full Text Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects Corry MR Weemaes, Maarten JD van Tol, Jun Wang, Monique M van Ostaijen-ten Dam, Marja CJA van Eggermond, Peter E Thijssen, Caner Aytekin, Nicola Brunetti-Pierri, Mirjam van der Burg, E Graham Davies, Alina Ferster, Dieter Furthner, Giorgio Gimelli, Andy Gennery, Barbara Kloeckener-Gruissem, Stephan Meyn, Cynthia Powell, Ismail Reisli, Catharina Schuetz, Ansgar Schulz, Andrea Shugar, Peter J van den Elsen and Silvère M van der Maarel Eur J Hum Genet 2013 21: 1219-1225; advance online publication, March 13, 2013; 10.1038/ejhg.2013.40 Abstract | Full Text Identification of a PKP2 gene deletion in a family with arrhythmogenic right ventricular cardiomyopathy Ilena Egle Astrid Li Mura, Barbara Bauce, Andrea Nava, Manuela Fanciulli, Giovanni Vazza, Elisa Mazzotti, Ilaria Rigato, Marzia De Bortoli, Giorgia Beffagna, Alessandra Lorenzon, Martina Calore, Emanuela Dazzo, Carlo Nobile, Maria Luisa Mostacciuolo, Domenico Corrado, Cristina Basso, Luciano Daliento, Gaetano Thiene and Alessandra Rampazzo Eur J Hum Genet 2013 21: 1226-1231; advance online publication, March 13, 2013; 10.1038/ejhg.2013.39 Abstract | Full Text Recurrent subacute post-viral onset of ataxia associated with a PRF1 mutation Cristina Dias, Allison McDonald, Murat Sincan, Rosemarie Rupps, Thomas Markello, Ramona Salvarinova, Rui F Santos, Kamal Menghrajani, Chidi Ahaghotu, Darren P Sutherland, Edgardo S Fortuno, III, Tobias R Kollmann, Michelle Demos, Jan M Friedman, David P Speert, William A Gahl and Cornelius F Boerkoel Eur J Hum Genet 2013 21: 1232-1239; advance online publication, February 27, 2013; 10.1038/ejhg.2013.20 Abstract | Full Text Cellular imaging demonstrates genetic mosaicism in heterozygous carriers of an X-linked ciliopathy gene Sung Pyo Park, In Hwan Hong, Stephen H Tsang and Stanley Chang Eur J Hum Genet 2013 21: 1240-1248; advance online publication, February 27, 2013; 10.1038/ejhg.2013.21 Abstract | Full Text Nebulin (NEB) mutations in a childhood onset distal myopathy with rods and cores uncovered by next generation sequencing Mariacristina Scoto, Thomas Cullup, Sebahattin Cirak, Shu Yau, Adnan Y Manzur, Lucy Feng, Thomas S Jacques, Glenn Anderson, Stephen Abbs, Caroline Sewry, Heinz Jungbluth and Francesco Muntoni Eur J Hum Genet 2013 21: 1249-1252; advance online publication, February 27, 2013; 10.1038/ejhg.2013.31 Abstract | Full Text The intellectual disability of trisomy 21: differences in gene expression in a case series of patients with lower and higher IQ André Mégarbané, Florian Noguier, Samantha Stora, Laurent Manchon, Clotilde Mircher, Roman Bruno, Nathalie Dorison, Fabien Pierrat, Marie-Odile Rethoré, Bernadette Trentin, Aimé Ravel, Marine Morent, Gerard Lefranc and David Piquemal Eur J Hum Genet 2013 21: 1253-1259; advance online publication, February 20, 2013; 10.1038/ejhg.2013.24 Abstract | Full Text Novel progranulin mutations with reduced serum-progranulin levels in frontotemporal lobar degeneration Huei-Hsin Chiang, Charlotte Forsell, Lena Lilius, Linn Öijerstedt, Steinunn Thordardottir, Krishnan Shanmugarajan, Marie Westerlund, Inger Nennesmo, Håkan Thonberg and Caroline Graff Eur J Hum Genet 2013 21: 1260-1265; advance online publication, March 6, 2013; 10.1038/ejhg.2013.37 Abstract | Full Text Novel mutations in CRB1 and ABCA4 genes cause Leber congenital amaurosis and Stargardt disease in a Swedish family Frida Jonsson, Marie S Burstedt, Ola Sandgren, Anna Norberg and Irina Golovleva Eur J Hum Genet 2013 21: 1266-1271; advance online publication, February 27, 2013; 10.1038/ejhg.2013.23 Abstract | Full Text Paradoxical effects of repeat interruptions on spinocerebellar ataxia type 10 expansions and repeat instability Karen N McFarland, Jilin Liu, Ivette Landrian, Rui Gao, Partha S Sarkar, Salmo Raskin, Mariana Moscovich, Emilia M Gatto, Hélio A G Teive, Adriana Ochoa, Astrid Rasmussen and Tetsuo Ashizawa Eur J Hum Genet 2013 21: 1272-1276; advance online publication, February 27, 2013; 10.1038/ejhg.2013.32 Abstract | Full Text Population structure, migration, and diversifying selection in the Netherlands Abdel Abdellaoui, Jouke-Jan Hottenga, Peter de Knijff, Michel G Nivard, Xiangjun Xiao, Paul Scheet, Andrew Brooks, Erik A Ehli, Yueshan Hu, Gareth E Davies, James J Hudziak, Patrick F Sullivan, Toos van Beijsterveldt, Gonneke Willemsen, Eco J de Geus, Brenda W J H Penninx and Dorret I Boomsma Eur J Hum Genet 2013 21: 1277-1285; advance online publication, March 27, 2013; 10.1038/ejhg.2013.48 Abstract | Full Text Comparison of genetic variation of breast cancer susceptibility genes in Chinese and German populations David Barzan, Marlon R Veldwijk, Carsten Herskind, Yang Li, Bo Zhang, Elena Sperk, Wei-Dong Du, Xue-Jun Zhang and Frederik Wenz Eur J Hum Genet 2013 21: 1286-1292; advance online publication, March 13, 2013; 10.1038/ejhg.2013.38 Abstract | Full Text Association between a 15q25 gene variant, nicotine-related habits, lung cancer and COPD among 56 307 individuals from the HUNT study in NorwayEJHGOPEN Maiken E Gabrielsen, Pål Romundstad, Arnulf Langhammer, Hans E Krokan and Frank Skorpen Eur J Hum Genet 2013 21: 1293-1299; advance online publication, February 27, 2013; 10.1038/ejhg.2013.26 Abstract | Full Text Short Reports Top MED12 exon 2 mutations in histopathological uterine leiomyoma variants Netta Mäkinen, Pia Vahteristo, Kati Kämpjärvi, Johanna Arola, Ralf Bützow and Lauri A Aaltonen Eur J Hum Genet 2013 21: 1300-1303; advance online publication, February 27, 2013; 10.1038/ejhg.2013.33 Abstract | Full Text Intragenic deletions of the IGF1 receptor gene in five individuals with psychiatric phenotypes and developmental delay Jens Witsch, Przemyslaw Szafranski, Chun-An Chen, LaDonna Immken, Gayle Simpson Patel, Patricia Hixson, Sau Wai Cheung, Pawel Stankiewicz and Christian P Schaaf Eur J Hum Genet 2013 21: 1304-1307; advance online publication, March 13, 2013; 10.1038/ejhg.2013.42 Abstract | Full Text The homozygosity index (HI) approach reveals high allele frequency for Wilson disease in the Sardinian population Alessandro Gialluisi, Simona Incollu, Tommaso Pippucci, Maria Barbara Lepori, Antonietta Zappu, Georgios Loudianos and Giovanni Romeo Eur J Hum Genet 2013 21: 1308-1311; advance online publication, March 13, 2013; 10.1038/ejhg.2013.43 Abstract | Full Text Rapidly deteriorating course in Dutch hereditary spastic paraplegia type 11 patients Susanne T de Bot, Rogier C Burggraaff, Johanna C Herkert, Helenius J Schelhaas, Bart Post, Adinda Diekstra, Reinout O van Vliet, Marjo S van der Knaap, Erik-Jan Kamsteeg, Hans Scheffer, Bart P van de Warrenburg, Corien C Verschuuren-Bemelmans and Hubertus PH Kremer Eur J Hum Genet 2013 21: 1312-1315; advance online publication, February 27, 2013; 10.1038/ejhg.2013.27 Abstract | Full Text Homozygous deletion of DIS3L2 exon 9 due to non-allelic homologous recombination between LINE-1s in a Japanese patient with Perlman syndrome Ken Higashimoto, Toshiyuki Maeda, Junichiro Okada, Yasufumi Ohtsuka, Kensaku Sasaki, Akiko Hirose, Makoto Nomiyama, Toshimitsu Takayanagi, Ryuji Fukuzawa, Hitomi Yatsuki, Kayoko Koide, Kenichi Nishioka, Keiichiro Joh, Yoriko Watanabe, Koh-ichiro Yoshiura and Hidenobu Soejima Eur J Hum Genet 2013 21: 1316-1319; advance online publication, March 13, 2013; 10.1038/ejhg.2013.45 Abstract | Full Text Genetics of eye colours in different rural populations on the Silk Road Sheila Ulivi, Massimo Mezzavilla and Paolo Gasparini Eur J Hum Genet 2013 21: 1320-1323; advance online publication, March 13, 2013; 10.1038/ejhg.2013.41 Abstract | Full Text Clinical Utility Gene Cards Updates Top Clinical utility gene card for: Achromatopsia - update 2013 Susanne Kohl and Christian Hamel Eur J Hum Genet 2013 21: ; advance online publication, March 13, 2013; 10.1038/ejhg.2013.44 Full Text Clinical utility gene card for: Alström Syndrome - update 2013 Jan D Marshall, Pietro Maffei, Sebastian Beck, Timothy G Barrett, Richard Paisey and Jürgen K Naggert Eur J Hum Genet 2013 21: ; advance online publication, April 24, 2013; 10.1038/ejhg.2013.61 Full Text Meeting Report Top EMQN Best Practice guidelines for diagnostic testing of mutations causing non-syndromic hearing impairment at the DFNB1 locusEJHGOPEN Lies H Hoefsloot, Anne-Françoise Roux and Maria Bitner-Glindzicz on behalf of the contributors to the EMQN DFNB1 best practice meeting Eur J Hum Genet 2013 21: 1325-1329; advance online publication, May 22, 2013; 10.1038/ejhg.2013.83 Full Text Book Review Top Chromosomal evolution: Molecular cytogenetic evolution of mammals Claude Stoll Eur J Hum Genet 2013 21: 1330; 10.1038/ejhg.2013.4 Full Text Natureevents is a fully searchable, multi-disciplinary database designed to maximise exposure for events organisers. 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