European Journal of Human Genetics - Table of Contents alert Volume 21 Issue 12

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TABLE OF CONTENTS Volume 21, Issue 12 (December 2013) In this issue Viewpoint Letter Articles Short Reports Also new AOP Sign up for e-alerts Recommend to your library Web feed Subscribe Advertisement 2013 Clinical Utility Gene Cards from EJHG  Clinical utility gene card for: Dilated Cardiomyopathy (CMD)   Clinical utility gene card for: poikiloderma with neutropenia   Clinical utility gene card for: Long-QT Syndrome (types 1-13)   Access the full selection of cards free online.  Viewpoint Top Secondary variants – in defense of a more fitting term in the incidental findings debate Gabrielle M Christenhusz, Koenraad Devriendt and Kris Dierickx Eur J Hum Genet 2013 21: 1331-1334; advance online publication, May 22, 2013; 10.1038/ejhg.2013.89 Abstract | Full Text Letter Top From evolutionary bystander to master manipulator: the emerging roles for the mitochondrial genome as a modulator of nuclear gene expression Martin P Horan, Neil J Gemmell and Jonci N Wolff Eur J Hum Genet 2013 21: 1335-1337; advance online publication, April 24, 2013; 10.1038/ejhg.2013.75 Full Text Articles Top Consulting the community: public expectations and attitudes about genetics research Holly Etchegary, Jane Green, Elizabeth Dicks, Daryl Pullman, Catherine Street and Patrick Parfrey Eur J Hum Genet 2013 21: 1338-1343; advance online publication, April 17, 2013; 10.1038/ejhg.2013.64 Abstract | Full Text Evidence for anticipation in Beckwith–Wiedemann syndromeEJHGOPEN Siren Berland, Mia Appelbäck, Ove Bruland, Jasmin Beygo, Karin Buiting, Deborah J G Mackay, I Karen Temple and Gunnar Houge Eur J Hum Genet 2013 21: 1344-1348; advance online publication, April 10, 2013; 10.1038/ejhg.2013.71 Abstract | Full Text Platelet defects in congenital variant of Rett syndrome patients with FOXG1 mutations or reduced expression due to a position effect at 14q12 Christophe Goubau, Koen Devriendt, Nathalie Van der Aa, An Crepel, Dagmar Wieczorek, Tjitske Kleefstra, Marjolein H Willemsen, Anita Rauch, Andreas Tzschach, Thomy de Ravel, Peter Leemans, Chris Van Geet, Gunnar Buyse and Kathleen Freson Eur J Hum Genet 2013 21: 1349-1355; advance online publication, May 1, 2013; 10.1038/ejhg.2013.86 Abstract | Full Text Wolfram gene (WFS1) mutation causes autosomal dominant congenital nuclear cataract in humans Vanita Berry, Cheryl Gregory-Evans, Warren Emmett, Naushin Waseem, Jacob Raby, DeQuincy Prescott, Anthony T Moore and Shomi S Bhattacharya Eur J Hum Genet 2013 21: 1356-1360; advance online publication, March 27, 2013; 10.1038/ejhg.2013.52 Abstract | Full Text PGD for hereditary breast and ovarian cancer: the route to universal tests for BRCA1 and BRCA2 mutation carriers Marion Drüsedau, Jos C Dreesen, Inge Derks-Smeets, Edith Coonen, Ron van Golde, Jannie van Echten-Arends, Peter M M Kastrop, Marinus J Blok, Encarna Gómez-García, Joep P Geraedts, Hubert J Smeets, Christine E de Die-Smulders and Aimée D Paulussen Eur J Hum Genet 2013 21: 1361-1368; advance online publication, March 27, 2013; 10.1038/ejhg.2013.50 Abstract | Full Text Germline copy number variation of genes involved in chromatin remodelling in families suggestive of Li-Fraumeni syndrome with brain tumours Juliette Aury-Landas, Gaëlle Bougeard, Hélène Castel, Hector Hernandez-Vargas, Aurélie Drouet, Jean-Baptiste Latouche, Marie-Thérèse Schouft, Claude Férec, Dominique Leroux, Christine Lasset, Isabelle Coupier, Olivier Caron, Zdenko Herceg, Thierry Frebourg and Jean-Michel Flaman Eur J Hum Genet 2013 21: 1369-1376; advance online publication, April 24, 2013; 10.1038/ejhg.2013.68 Abstract | Full Text De novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL association Alina Hilger, Charlotte Schramm, Tracie Pennimpede, Lars Wittler, Gabriel C Dworschak, Enrika Bartels, Hartmut Engels, Alexander M Zink, Franziska Degenhardt, Annette M Müller, Eberhard Schmiedeke, Sabine Grasshoff-Derr, Stefanie Märzheuser, Stuart Hosie, Stefan Holland-Cunz, Charlotte HW Wijers, Carlo LM Marcelis, Iris ALM van Rooij, Friedhelm Hildebrandt, Bernhard G Herrmann, Markus M Nöthen, Michael Ludwig, Heiko Reutter and Markus Draaken Eur J Hum Genet 2013 21: 1377-1382; advance online publication, April 3, 2013; 10.1038/ejhg.2013.58 Abstract | Full Text Oncogenic mutations and microsatellite instability phenotype predict specific anatomical subsite in colorectal cancer patients Giovanni Corso, Valeria Pascale, Giuseppe Flauti, Francesco Ferrara, Daniele Marrelli and Franco Roviello Eur J Hum Genet 2013 21: 1383-1388; advance online publication, April 10, 2013; 10.1038/ejhg.2013.66 Abstract | Full Text An association between the PTGS2 rs5275 polymorphism and colorectal cancer risk in families with inherited non-syndromic predisposition Jason Ross, Linda Lockett, Diana Brookes, Bruce Tabor, Konsta Duesing, Michael Buckley, Trevor Lockett, Peter Molloy, Finlay Macrae, Graeme Young, Ignacio Blanco, Gabriel Capella and Garry N Hannan Eur J Hum Genet 2013 21: 1389-1395; advance online publication, March 27, 2013; 10.1038/ejhg.2013.53 Abstract | Full Text Human X-chromosome inactivation pattern distributions fit a model of genetically influenced choice better than models of completely random choice Nisa K E Renault, Sonja M Pritchett, Robin E Howell, Wenda L Greer, Carmen Sapienza, Karen Helene Ørstavik and David C Hamilton Eur J Hum Genet 2013 21: 1396-1402; advance online publication, May 8, 2013; 10.1038/ejhg.2013.84 Abstract | Full Text Next generation sequencing of SNPs for non-invasive prenatal diagnosis: challenges and feasibility as illustrated by an application to β-thalassaemia Thessalia Papasavva, Wilfred F J van IJcken, Christel E M Kockx, Mirjam C G N van den Hout, Petros Kountouris, Loukas Kythreotis, Eleni Kalogirou, Frank G Grosveld and Marina Kleanthous Eur J Hum Genet 2013 21: 1403-1410; advance online publication, April 10, 2013; 10.1038/ejhg.2013.47 Abstract | Full Text The genome-wide landscape of copy number variations in the MUSGEN study provides evidence for a founder effect in the isolated Finnish population Chakravarthi Kanduri, Liisa Ukkola-Vuoti, Jaana Oikkonen, Gemma Buck, Christine Blancher, Pirre Raijas, Kai Karma, Harri Lähdesmäki and Irma Järvelä Eur J Hum Genet 2013 21: 1411-1416; advance online publication, April 17, 2013; 10.1038/ejhg.2013.60 Abstract | Full Text A 680 kb duplication at the FTO locus in a kindred with obesity and a distinct body fat distribution Robert W Davies, Paulina Lau, Thet Naing, Majid Nikpay, Heather Doelle, Mary Ellen Harper, Robert Dent and Ruth McPherson Eur J Hum Genet 2013 21: 1417-1422; advance online publication, April 17, 2013; 10.1038/ejhg.2013.63 Abstract | Full Text Determination of population origin: a comparison of autosomal SNPs, Y-chromosomal and mtDNA haplogroups using a Malagasy population as example Micaela Poetsch, Aline Wiegand, Melanie Harder, Rowena Blöhm, Noel Rakotomavo, Sandra Freitag-Wolf and Nicole von Wurmb-Schwark Eur J Hum Genet 2013 21: 1423-1428; advance online publication, April 24, 2013; 10.1038/ejhg.2013.51 Abstract | Full Text Homozygosity analysis in amyotrophic lateral sclerosis Kin Mok, Hannu Laaksovirta, Pentti J Tienari, Terhi Peuralinna, Liisa Myllykangas, Adriano Chiò, Bryan J Traynor, Michael A Nalls, Nicole Gurunlian, Aleksey Shatunov, Gabriella Restagno, Gabriele Mora, P Nigel Leigh, Chris E Shaw, Karen E Morrison, Pamela J Shaw, Ammar Al-Chalabi, John Hardy and Richard W Orrell Eur J Hum Genet 2013 21: 1429-1435; advance online publication, April 24, 2013; 10.1038/ejhg.2013.59 Abstract | Full Text Fetal polymorphisms at the ABCB1-transporter gene locus are associated with susceptibility to non-syndromic oral cleft malformations Ardeshir Omoumi, Zihua Wang, Vincent Yeow, Yah-Huei Wu-Chou, Philip K Chen, Ingo Ruczinski, Joanne Cheng, Felicia S H Cheah, Caroline G Lee, Terri H Beaty and Samuel S Chong Eur J Hum Genet 2013 21: 1436-1441; advance online publication, February 27, 2013; 10.1038/ejhg.2013.25 Abstract | Full Text A unifying framework for robust association testing, estimation, and genetic model selection using the generalized linear model Christina Loley, Inke R König, Ludwig Hothorn and Andreas Ziegler Eur J Hum Genet 2013 21: 1442-1448; advance online publication, April 10, 2013; 10.1038/ejhg.2013.62 Abstract | Full Text Joint detection of association, imprinting and maternal effects using all children and their parents Miao Han, Yue-Qing Hu and Shili Lin Eur J Hum Genet 2013 21: 1449-1456; advance online publication, March 27, 2013; 10.1038/ejhg.2013.49 Abstract | Full Text Short Reports Top Extended spectrum of MBD5 mutations in neurodevelopmental disorders Céline Bonnet, Asma Ali Khan, Emmanuel Bresso, Charlène Vigouroux, Mylène Béri, Sarah Lejczak, Bénédicte Deemer, Joris Andrieux, Christophe Philippe, Anne Moncla, Irina Giurgea, Marie-Dominique Devignes, Bruno Leheup and Philippe Jonveaux Eur J Hum Genet 2013 21: 1457-1461; advance online publication, February 20, 2013; 10.1038/ejhg.2013.22 Abstract | Full Text Clinical and molecular characterization of the potential CF disease modifier syntaxin 1A Thomas von Kanel, Frauke Stanke, Melanie Weber, Andre Schaller, Julien Racine, Richard Kraemer, Marc Chanson, Burkhard Tümmler and Sabina Gallati Eur J Hum Genet 2013 21: 1462-1466; advance online publication, April 10, 2013; 10.1038/ejhg.2013.57 Abstract | Full Text Natureevents is a fully searchable, multi-disciplinary database designed to maximise exposure for events organisers. 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