European Journal of Human Genetics - Table of Contents alert Volume 22 Issue 11

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TABLE OF CONTENTS Volume 22, Issue 11 (November 2014) In this issue Letters Articles Short Reports Clinical Utility Gene Cards Book Review Corrigendum Also new AOP Sign up for e-alerts Recommend to your library Web feed Subscribe Letters Top Redundant enhancers and causal variants in the TCF7L2 gene Edward A Ruiz-Narváez Eur J Hum Genet 2014 22: 1243-1246; advance online publication, February 12, 2014; 10.1038/ejhg.2014.17 Full Text The future of Clinical Utility Gene Cards in the context of next-generation sequencing diagnostic panels Anna Dierking and Jörg Schmidtke Eur J Hum Genet 2014 22: 1247; advance online publication, February 19, 2014; 10.1038/ejhg.2014.23 Full Text Articles Top Public views on participating in newborn screening using genome sequencing Yvonne Bombard, Fiona A Miller, Robin Z Hayeems, Carolyn Barg, Celine Cressman, June C Carroll, Brenda J Wilson, Julian Little, Denise Avard, Michael Painter-Main, Judith Allanson, Yves Giguere and Pranesh Chakraborty Eur J Hum Genet 2014 22: 1248-1254; advance online publication, February 19, 2014; 10.1038/ejhg.2014.22 Abstract | Full Text A national perspective on prenatal testing for mitochondrial diseaseEJHGOPEN Victoria Nesbitt, Charlotte L Alston, Emma L Blakely, Carl Fratter, Catherine L Feeney, Joanna Poulton, Garry K Brown, Doug M Turnbull, Robert W Taylor and Robert McFarland Eur J Hum Genet 2014 22: 1255-1259; advance online publication, March 19, 2014; 10.1038/ejhg.2014.35 Abstract | Full Text Systematic large-scale study of the inheritance mode of Mendelian disorders provides new insight into human diseasome Dapeng Hao, Guangyu Wang, Zuojing Yin, Chuanxing Li, Yan Cui and Meng Zhou Eur J Hum Genet 2014 22: 1260-1267; advance online publication, January 22, 2014; 10.1038/ejhg.2013.309 Abstract | Full Text Face shape differs in phylogenetically related populations Saskia M J Hopman, Johannes H M Merks, Michael Suttie, Raoul C M Hennekam and Peter Hammond Eur J Hum Genet 2014 22: 1268-1271; advance online publication, January 8, 2014; 10.1038/ejhg.2013.289 Abstract | Full Text Myhre and LAPS syndromes: clinical and molecular review of 32 patients Caroline Michot, Carine Le Goff, Clémentine Mahaut, Alexandra Afenjar, Alice S Brooks, Philippe M Campeau, Anne Destree, Maja Di Rocco, Dian Donnai, Raoul Hennekam, Delphine Heron, Sébastien Jacquemont, Peter Kannu, Angela E Lin, Sylvie Manouvrier-Hanu, Sahar Mansour, Sandrine Marlin, Ruth McGowan, Helen Murphy, Annick Raas-Rothschild, Marlène Rio, Marleen Simon, Irene Stolte-Dijkstra, James R Stone, Yves Sznajer, John Tolmie, Renaud Touraine, Jenneke van den Ende, Nathalie Van der Aa, Ton van Essen, Alain Verloes, Arnold Munnich and Valérie Cormier-Daire Eur J Hum Genet 2014 22: 1272-1277; advance online publication, January 15, 2014; 10.1038/ejhg.2013.288 Abstract | Full Text Genotype to phenotype correlations in cartilage oligomeric matrix protein associated chondrodysplasiasEJHGOPEN Michael D Briggs, Joanne Brock, Simon C Ramsden and Peter A Bell Eur J Hum Genet 2014 22: 1278-1282; advance online publication, March 5, 2014; 10.1038/ejhg.2014.30 Abstract | Full Text Intragenic deletions affecting two alternative transcripts of the IMMP2L gene in patients with Tourette syndrome Birgitte Bertelsen, Linea Melchior, Lars R Jensen, Camilla Groth, Birte Glenthøj, Renata Rizzo, Nanette Mol Debes, Liselotte Skov, Karen Brøndum-Nielsen, Peristera Paschou, Asli Silahtaroglu and Zeynep Tümer Eur J Hum Genet 2014 22: 1283-1289; advance online publication, February 19, 2014; 10.1038/ejhg.2014.24 Abstract | Full Text The myosin chaperone UNC45B is involved in lens development and autosomal dominant juvenile cataract Lars Hansen, Sophie Comyn, Yuan Mang, Allan Lind-Thomsen, Layne Myhre, Francesca Jean, Hans Eiberg, Niels Tommerup, Thomas Rosenberg and David Pilgrim Eur J Hum Genet 2014 22: 1290-1297; advance online publication, February 19, 2014; 10.1038/ejhg.2014.21 Abstract | Full Text Novel physiological RECQL4 alternative transcript disclosed by molecular characterisation of Rothmund–Thomson Syndrome sibs with mild phenotype Elisa Adele Colombo, Laura Fontana, Gaia Roversi, Gloria Negri, Daniele Castiglia, Mauro Paradisi, Giovanna Zambruno and Lidia Larizza Eur J Hum Genet 2014 22: 1298-1304; advance online publication, February 12, 2014; 10.1038/ejhg.2014.18 Abstract | Full Text Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes Laurent Castéra, Sophie Krieger, Antoine Rousselin, Angélina Legros, Jean-Jacques Baumann, Olivia Bruet, Baptiste Brault, Robin Fouillet, Nicolas Goardon, Olivier Letac, Stéphanie Baert-Desurmont, Julie Tinat, Odile Bera, Catherine Dugast, Pascaline Berthet, Florence Polycarpe, Valérie Layet, Agnes Hardouin, Thierry Frébourg and Dominique Vaur Eur J Hum Genet 2014 22: 1305-1313; advance online publication, February 19, 2014; 10.1038/ejhg.2014.16 Abstract | Full Text Cell therapy using retinal progenitor cells shows therapeutic effect in a chemically-induced rotenone mouse model of Leber hereditary optic neuropathy Fiona C Mansergh, Naomi Chadderton, Paul F Kenna, Oliviero L Gobbo and G Jane Farrar Eur J Hum Genet 2014 22: 1314-1320; advance online publication, February 26, 2014; 10.1038/ejhg.2014.26 Abstract | Full Text Improved imputation quality of low-frequency and rare variants in European samples using the ‘Genome of The Netherlands’EJHGOPEN Patrick Deelen, Androniki Menelaou, Elisabeth M van Leeuwen, Alexandros Kanterakis, Freerk van Dijk, Carolina Medina-Gomez, Laurent C Francioli, Jouke Jan Hottenga, Lennart C Karssen, Karol Estrada, Eskil Kreiner-Møller, Fernando Rivadeneira, Jessica van Setten, Javier Gutierrez-Achury, Harm-Jan Westra, Lude Franke, David van Enckevort, Martijn Dijkstra, Heorhiy Byelas, Cornelia M van Duijn, Genome of the Netherlands Consortium, Paul I W de Bakker, Cisca Wijmenga and Morris A Swertz Eur J Hum Genet 2014 22: 1321-1326; advance online publication, June 4, 2014; 10.1038/ejhg.2014.19 Abstract | Full Text Short Reports Top Coffin–Siris Syndrome with obesity, macrocephaly, hepatomegaly and hyperinsulinism caused by a mutation in the ARID1B gene Mari-Anne Vals, Eve Õiglane-Shlik, Margit Nõukas, Riina Shor, Aleksandr Peet, Mart Kals, Paula Ann Kivistik, Andres Metspalu and Katrin Õunap Eur J Hum Genet 2014 22: 1327-1329; advance online publication, February 26, 2014; 10.1038/ejhg.2014.25 Abstract | Full Text Attenuated familial adenomatous polyposis manifests as autosomal dominant late-onset colorectal cancer Abdulla Ibrahim, Daniel R Barnes, Jacqueline Dunlop, Daniel Barrowdale, Antonis C Antoniou and Jonathan N Berg Eur J Hum Genet 2014 22: 1330-1333; advance online publication, February 19, 2014; 10.1038/ejhg.2014.20 Abstract | Full Text Biallelic MUTYH mutations can mimic Lynch syndrome Monika Morak, Barbara Heidenreich, Gisela Keller, Heather Hampel, Andreas Laner, Albert de la Chapelle and Elke Holinski-Feder Eur J Hum Genet 2014 22: 1334-1337; advance online publication, February 12, 2014; 10.1038/ejhg.2014.15 Abstract | Full Text Clinical Utility Gene Cards Top Clinical utility gene card for: 15q13.3 microdeletion syndrome Maria Tropeano, Joris Andrieux, Evangelos Vassos and David A Collier Eur J Hum Genet 2014 22: 1338; advance online publication, May 14, 2014; 10.1038/ejhg.2014.88 Full Text Clinical utility gene card for: Dent disease (Dent-1 and Dent-2) Michael Ludwig, Elena Levtchenko and Arend Bökenkamp Eur J Hum Genet 2014 22: 1338; advance online publication, March 12, 2014; 10.1038/ejhg.2014.33 Full Text Book Review Top Teeth anomalies and genetics, including genetic syndromes Didier Lacombe Eur J Hum Genet 2014 22: 1339; 10.1038/ejhg.2014.98 Full Text Corrigendum Top Myhre and LAPS syndromes: clinical and molecular review of 32 patients Caroline Michot, Carine Le Goff, Clémentine Mahaut, Alexandra Afenjar, Alice S Brooks, Philippe M Campeau, Anne Destree, Maja Di Rocco, Dian Donnai, Raoul Hennekam, Delphine Heron, Sébastien Jacquemont, Peter Kannu, Angela E Lin, Sylvie Manouvrier-Hanu, Sahar Mansour, Sandrine Marlin, Ruth McGowan, Helen Murphy, Annick Raas-Rothschild, Marléne Rio, Marleen Simon, Irene Stolte-Dijkstra, James R Stone, Yves Sznajer, John Tolmie, Renaud Touraine, Jenneke van den Ende, Nathalie Van der Aa, Ton van Essen, Alain Verloes, Arnold Munnich and Valérie Cormier-Daire Eur J Hum Genet 2014 22: 1340; 10.1038/ejhg.2014.182 Full Text Natureevents is a fully searchable, multi-disciplinary database designed to maximise exposure for events organisers. 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