European Journal of Human Genetics - Table of Contents alert Volume 20 Issue 12

TABLE OF CONTENTS Volume 20, Issue 12 (December 2012) In this issue Policy Articles Short Reports Also new AOP Advertisement The Accelrys NGS Collection Unparalleled versatility, agility and scalability with proven enterprise performance. Download analyst white paper to learn more Sign up for e-alerts Recommend to your library Web feed Subscribe Advertisement NGS Pharma 29 - 31 January 2013 | Frankfurt Practical applications of NGS to guide drug development, design better trials and accelerate new discoveries. With input from experts at GSK, Merck, the FDA, Novartis, Sanger Institute, Janssen, Max Planck Institute for Molecular Genetics, Pfizer, BMS, AstraZeneca and Millennium. www.nextgeneration-sequencing.com   Policy Top Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2 Erik-Jan Kamsteeg, Wolfram Kress, Claudio Catalli, Jens M Hertz, Martina Witsch-Baumgartner, Michael F Buckley, Baziel G M van Engelen, Marianne Schwartz and Hans Scheffer Eur J Hum Genet 2012 20: 1203-1208; advance online publication, May 30, 2012; 10.1038/ejhg.2012.108 Abstract | Full Text Articles Top Improvement of interpretation in cystic fibrosis clinical laboratory reports: longitudinal analysis of external quality assessment data Sarah Berwouts, Emmanuelle Girodon, Martin Schwarz, Manfred Stuhrmann, Michael A Morris and Elisabeth Dequeker Eur J Hum Genet 2012 20: 1209-1215; advance online publication, June 20, 2012; 10.1038/ejhg.2012.131 Abstract | Full Text 14q12 and severe Rett-like phenotypes: new clinical insights and physical mapping of FOXG1-regulatory elements Lila Allou, Laetitia Lambert, Daniel Amsallem, Eric Bieth, Patrick Edery, Anne Destrée, François Rivier, David Amor, Elizabeth Thompson, Julian Nicholl, Michael Harbord, Christophe Nemos, Aline Saunier, Aissa Moustaïne, Adeline Vigouroux, Philippe Jonveaux and Christophe Philippe Eur J Hum Genet 2012 20: 1216-1223; advance online publication, June 27, 2012; 10.1038/ejhg.2012.127 Abstract | Full Text PITX2 and FOXC1 spectrum of mutations in ocular syndromes Linda M Reis, Rebecca C Tyler, Bethany A Volkmann Kloss, Kala F Schilter, Alex V Levin, R Brian Lowry, Petra J G Zwijnenburg, Eliza Stroh, Ulrich Broeckel, Jeffrey C Murray and Elena V Semina Eur J Hum Genet 2012 20: 1224-1233; advance online publication, May 9, 2012; 10.1038/ejhg.2012.80 Abstract | Full Text Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy Luca Bello, Paola Melacini, Raffaele Pezzani, Adele D'Amico, Luisa Piva, Emanuela Leonardi, Annalaura Torella, Gianni Soraru, Arianna Palmieri, Gessica Smaniotto, Bruno F Gavassini, Andrea Vianello, Vincenzo Nigro, Enrico Bertini, Corrado Angelini, Silvio C E Tosatto and Elena Pegoraro Eur J Hum Genet 2012 20: 1234-1239; advance online publication, May 2, 2012; 10.1038/ejhg.2012.71 Abstract | Full Text Phenotypic spectrum and genotype–phenotype correlations of NRXN1 exon deletions Christian P Schaaf, Philip M Boone, Srirangan Sampath, Charles Williams, Patricia I Bader, Jennifer M Mueller, Oleg A Shchelochkov, Chester W Brown, Heather P Crawford, James A Phalen, Nicole R Tartaglia, Patricia Evans, William M Campbell, Anne Chun-Hui Tsai, Lea Parsley, Stephanie W Grayson, Angela Scheuerle, Carol D Luzzi, Sandra K Thomas, Patricia A Eng, Sung-Hae L Kang, Ankita Patel, Pawel Stankiewicz and Sau W Cheung Eur J Hum Genet 2012 20: 1240-1247; advance online publication, May 23, 2012; 10.1038/ejhg.2012.95 Abstract | Full Text Screening of human pluripotent stem cells using CGH and FISH reveals low-grade mosaic aneuploidy and a recurrent amplification of chromosome 1q Michal Dekel-Naftali, Ayala Aviram-Goldring, Talia Litmanovitch, Jana Shamash, Haike Reznik-Wolf, Ilana Laevsky, Michal Amit, Joseph Itskovitz-Eldor, Yuval Yung, Ariel Hourvitz, Eyal Schiff and Shlomit Rienstein Eur J Hum Genet 2012 20: 1248-1255; advance online publication, June 20, 2012; 10.1038/ejhg.2012.128 Abstract | Full Text MLH1 methylation screening is effective in identifying epimutation carriers Marta Pineda, Pilar Mur, María Dolores Iniesta, Ester Borràs, Olga Campos, Gardenia Vargas, Sílvia Iglesias, Anna Fernández, Stephen B Gruber, Conxi Lázaro, Joan Brunet, Matilde Navarro, Ignacio Blanco and Gabriel Capellá Eur J Hum Genet 2012 20: 1256-1264; advance online publication, July 4, 2012; 10.1038/ejhg.2012.136 Abstract | Full Text Variants in the 3′UTR of SNCA do not affect miRNA-433 binding and alpha-synuclein expression Ina Schmitt, Ullrich Wüllner, Jan Pierre van Rooyen, Hassan Khazneh, Julian Becker, Alexander Volk, Christian Kubisch, Tim Becker, Vladimir S Kostic, Christine Klein and Alfredo Ramirez Eur J Hum Genet 2012 20: 1265-1269; advance online publication, May 23, 2012; 10.1038/ejhg.2012.84 Abstract | Full Text Analytical and simulation methods for estimating the potential predictive ability of genetic profiling: a comparison of methods and results Suman Kundu, Lennart C Karssen and A Cecile JW Janssens Eur J Hum Genet 2012 20: 1270-1274; advance online publication, May 30, 2012; 10.1038/ejhg.2012.89 Abstract | Full Text Distinguishing the co-ancestries of haplogroup G Y-chromosomes in the populations of Europe and the Caucasus Siiri Rootsi, Natalie M Myres, Alice A Lin, Mari Järve, Roy J King, Ildus Kutuev, Vicente M Cabrera, Elza K Khusnutdinova, Kärt Varendi, Hovhannes Sahakyan, Doron M Behar, Rita Khusainova, Oleg Balanovsky, Elena Balanovska, Pavao Rudan, Levon Yepiskoposyan, Ardeshir Bahmanimehr, Shirin Farjadian, Alena Kushniarevich, Rene J Herrera, Viola Grugni, Vincenza Battaglia, Carmela Nici, Francesca Crobu, Sena Karachanak, Baharak Hooshiar Kashani, Massoud Houshmand, Mohammad H Sanati, Draga Toncheva, Antonella Lisa, Ornella Semino, Jacques Chiaroni, Julie Di Cristofaro, Richard Villems, Toomas Kivisild and Peter A Underhill Eur J Hum Genet 2012 20: 1275-1282; advance online publication, May 16, 2012; 10.1038/ejhg.2012.86 Abstract | Full Text Inferring separate parental admixture components in unknown DNA samples using autosomal SNPs Daniel J M Crouch and Michael E Weale Eur J Hum Genet 2012 20: 1283-1289; advance online publication, June 27, 2012; 10.1038/ejhg.2012.134 Abstract | Full Text A novel missense mutation in the signal peptide of the human POMC gene: a possible additional link between early-onset type 2 diabetes and obesity Monica Mencarelli, Alessandra Zulian, Raffaella Cancello, Luisella Alberti, Luisa Gilardini, Anna Maria Di Blasio and Cecilia Invitti Eur J Hum Genet 2012 20: 1290-1294; advance online publication, May 30, 2012; 10.1038/ejhg.2012.103 Abstract | Full Text Copy number variation in patients with cervical artery dissection Caspar Grond-Ginsbach, Bowang Chen, Rastislav Pjontek, Tina Wiest, Yanxiang Jiang, Barbara Burwinkel, Sandrine Tchatchou, Michael Krawczak, Stefan Schreiber, Tobias Brandt, Manja Kloss, Marie-Luise Arnold, Kari Hemminki, Christoph Lichy, Philippe A Lyrer, Ingrid Hausser and Stefan T Engelter Eur J Hum Genet 2012 20: 1295-1299; advance online publication, May 23, 2012; 10.1038/ejhg.2012.82 Abstract | Full Text Efficiency of trans-ethnic genome-wide meta-analysis and fine-mapping Rick Twee-Hee Ong, Xu Wang, Xuanyao Liu and Yik-Ying Teo Eur J Hum Genet 2012 20: 1300-1307; advance online publication, May 23, 2012; 10.1038/ejhg.2012.88 Abstract | Full Text Short Reports Top Effect of mutations in XPD(ERCC2) on pregnancy and prenatal development in mothers of patients with trichothiodystrophy or xeroderma pigmentosum Deborah Tamura, Sikandar G Khan, Melissa Merideth, John J DiGiovanna, Margaret A Tucker, Alisa M Goldstein, Kyu-Seon Oh, Takahiro Ueda, Jennifer Boyle, Mansi Sarihan and Kenneth H Kraemer Eur J Hum Genet 2012 20: 1308-1310; advance online publication, May 23, 2012; 10.1038/ejhg.2012.90 Abstract | Full Text Is there a Mendelian transmission ratio distortion of the c.429_452dup(24bp) polyalanine tract ARX mutation? Cheryl Shoubridge, Alison Gardner, Charles E Schwartz, Anna Hackett, Michael Field and Jozef Gecz Eur J Hum Genet 2012 20: 1311-1314; advance online publication, April 11, 2012; 10.1038/ejhg.2012.61 Abstract | Full Text Haploinsufficiency of CELF4 at 18q12.2 is associated with developmental and behavioral disorders, seizures, eye manifestations, and obesity Christina Halgren, Iben Bache, Mads Bak, Mikkel Wanting Myatt, Claire Marie Anderson, Karen Brøndum-Nielsen and Niels Tommerup Eur J Hum Genet 2012 20: 1315-1319; advance online publication, May 23, 2012; 10.1038/ejhg.2012.92 Abstract | Full Text Quantifying harmful mutations in human populations Sankar Subramanian Eur J Hum Genet 2012 20: 1320-1322; advance online publication, April 18, 2012; 10.1038/ejhg.2012.68 Abstract | Full Text Advertisement Clinical data as trade secrets? Current practices adopted by privately owned genetic databases may hinder interpretation of genomic data and impede the advance of personalised medicine. The article suggests that US policies have so far failed to address data sharing issues, but the entry of new and established firms into the European genetic testing market may present an opportunity to correct this failure. Robert Cook-Deegan and colleagues suggest that, with the entry of Myriad in to Europe in 2012 these problems may be overcome. Policies about regulation and coverage of genetic testing in Europe may insure that the data necessary to interpret the clinical significance of genetics variation are made public, therefore opening them up to scientific scrutiny which may benefit patients. 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