European Journal of Human Genetics - Table of Contents alert Volume 20 Issue 5

TABLE OF CONTENTS Volume 20, Issue 5 (May 2012) In this issue News and Commentaries Letters Review Articles Short Reports Clinical Utility Gene Cards Erratum Also new AOP Advertisement Accelerate Next Generation Sequencing Research The Next Generation Sequencing (NGS) Collection for Pipeline Pilot offers a uniquely agile and scalable platform for automated NGS Data analysis. The NGS Collection let users analyze and interpret the massive datasets generated by all current DNA sequencing instruments, and is designed for use with Oxford Nanopore when launched. Check out the unparalleled power and flexibility of the NGS Collection. Download case study Sign up for e-alerts Recommend to your library Web feed Subscribe Advertisement 64 Mb Exome Capture NimbleGen SeqCap EZ Exome v3 Discover the power of 2.1 million empirically rebalanced DNA probes for highly optimized performance and uniform coverage across the exome. •  The most comprehensive coverage of coding regions •  Experience the highest target enrichment efficiency •  Maximize variant discovery, minimize sequencing costs Click here to Discover More, Sequence Less   News and Commentaries Top Direct-to-consumer genetic testing services: what are the medical benefits? Thierry Frebourg Eur J Hum Genet 2012 20: 483; advance online publication, January 4, 2012; 10.1038/ejhg.2011.229 Full Text Newborn screening for sickle cell disease: whose reproductive benefit? Lainie Friedman Ross Eur J Hum Genet 2012 20: 484-485; advance online publication, November 9, 2011; 10.1038/ejhg.2011.191 Full Text Letters Top Reply to Ross' commentary: Reproductive benefit through newborn screening: preferences, policy and ethics Yvonne Bombard and Fiona A Miller Eur J Hum Genet 2012 20: 486-487; advance online publication, February 29, 2012; 10.1038/ejhg.2012.25 Full Text 8q23.3 and 11q23.1 as modifying loci influencing the risk for CRC in Lynch syndrome Bente A Talseth-Palmer, Rodney J Scott, Hans F A Vasen and Juul T Wijnen Eur J Hum Genet 2012 20: 487-488; advance online publication, December 14, 2011; 10.1038/ejhg.2011.232 Full Text Reply to Talseth-Palmer et al Solene Houlle, Françoise Charbonnier, Estelle Houivet, Julie Tinat, Marie-Pierre Buisine, Olivier Caron, Jacques Benichou, Stéphanie Baert-Desurmont and Thierry Frebourg Eur J Hum Genet 2012 20: 488; advance online publication, December 14, 2011; 10.1038/ejhg.2011.235 Full Text Association study of the single nucleotide polymorphisms of PARK2 and PACRG with leprosy susceptibility in Chinese population Jinghui Li, Hong Liu, Jian Liu, Xi'an Fu, Yongxiang Yu, Gongqi Yu, Shumin Chen, Tongsheng Chu, Nan Lu, Fangfang Bao, Chunying Yuan and Furen Zhang Eur J Hum Genet 2012 20: 488-489; advance online publication, October 19, 2011; 10.1038/ejhg.2011.190 Full Text Review Top Disease gene identification strategies for exome sequencing Christian Gilissen, Alexander Hoischen, Han G Brunner and Joris A Veltman Eur J Hum Genet 2012 20: 490-497; advance online publication, January 18, 2012; 10.1038/ejhg.2011.258 Abstract | Full Text Articles Top Health-care providers’ views on pursuing reproductive benefit through newborn screening: the case of sickle cell disorders Yvonne Bombard, Fiona A Miller, Robin Z Hayeems, Brenda J Wilson, June C Carroll, Martha Paynter, Julian Little, Judith Allanson, Jessica P Bytautas and Pranesh Chakraborty Eur J Hum Genet 2012 20: 498-504; advance online publication, November 9, 2011; 10.1038/ejhg.2011.188 Abstract | Full Text ironXS: high-school screening for hereditary haemochromatosis is acceptable and feasible Martin B Delatycki, Michelle Wolthuizen, Veronica Collins, Elizabeth Varley, Joanna Craven, Katrina J Allen, Lyle C Gurrin, Maryanne Aitken, M Kaye Trembath, Lyndal Bond, Gabrielle R Wilson, Sarah EM Stephenson, Ivan Macciocca, Chriselle Hickerton, Paul J Lockhart and Sylvia A Metcalfe Eur J Hum Genet 2012 20: 505-509; advance online publication, January 11, 2012; 10.1038/ejhg.2011.247 Abstract | Full Text Genotype and cognitive phenotype of patients with tuberous sclerosis complex Agnies M van Eeghen, Margaux E Black, Margaret B Pulsifer, David J Kwiatkowski and Elizabeth A Thiele Eur J Hum Genet 2012 20: 510-515; advance online publication, December 21, 2011; 10.1038/ejhg.2011.241 Abstract | Full Text Association of genomic instability, and the methylation status of imprinted genes and mismatch-repair genes, with neural tube defects Zhuo Liu, Zhigang Wang, Yuanyuan Li, Shengrong Ouyang, Huibo Chang, Ting Zhang, Xiaoying Zheng and Jianxin Wu Eur J Hum Genet 2012 20: 516-520; advance online publication, January 11, 2012; 10.1038/ejhg.2011.242 Abstract | Full Text Rare chromosome abnormalities, prevalence and prenatal diagnosis rates from population-based congenital anomaly registers in Europe Diana Wellesley, Helen Dolk, Patricia A Boyd, Ruth Greenlees, Martin Haeusler, Vera Nelen, Ester Garne, Babak Khoshnood, Berenice Doray, Anke Rissmann, Carmel Mullaney, Elisa Calzolari, Marian Bakker, Joaquin Salvador, Marie-Claude Addor, Elizabeth Draper, Judith Rankin and David Tucker Eur J Hum Genet 2012 20: 521-526; advance online publication, January 11, 2012; 10.1038/ejhg.2011.246 Abstract | Full Text Genomic imbalances detected by array-CGH in patients with syndromal ocular developmental anomalies Andrée Delahaye, Pierre Bitoun, Séverine Drunat, Marion Gérard-Blanluet, Nicolas Chassaing, Annick Toutain, Alain Verloes, Frédérique Gatelais, Marie Legendre, Laurence Faivre, Sandrine Passemard, Azzedine Aboura, Sophie Kaltenbach, Samuel Quentin, Céline Dupont, Anne-Claude Tabet, Serge Amselem, Jacques Elion, Pierre Gressens, Eva Pipiras and Brigitte Benzacken Eur J Hum Genet 2012 20: 527-533; advance online publication, January 11, 2012; 10.1038/ejhg.2011.233 Abstract | Full Text 17q24.2 microdeletions: a new syndromal entity with intellectual disability, truncal obesity, mood swings and hallucinations Sarah Vergult, Andrew Dauber, Barbara Delle Chiaie, Elke Van Oudenhove, Marleen Simon, Ali Rihani, Bart Loeys, Joel Hirschhorn, Jean Pfotenhauer, John A Phillips, III, Shehla Mohammed, Caroline Ogilvie, John Crolla, Geert Mortier and Björn Menten Eur J Hum Genet 2012 20: 534-539; advance online publication, December 14, 2011; 10.1038/ejhg.2011.239 Abstract | Full Text Autism multiplex family with 16p11.2p12.2 microduplication syndrome in monozygotic twins and distal 16p11.2 deletion in their brother Anne-Claude Tabet, Marion Pilorge, Richard Delorme, Frédérique Amsellem, Jean-Marc Pinard, Marion Leboyer, Alain Verloes, Brigitte Benzacken and Catalina Betancur Eur J Hum Genet 2012 20: 540-546; advance online publication, January 11, 2012; 10.1038/ejhg.2011.244 Abstract | Full Text Prospective comparison of family medical history with personal genome screening for risk assessment of common cancers Brandie Heald, Emily Edelman and Charis Eng Eur J Hum Genet 2012 20: 547-551; advance online publication, January 4, 2012; 10.1038/ejhg.2011.224 Abstract | Full Text Splicing analysis of unclassified variants in COL2A1 and COL11A1 identifies deep intronic pathogenic mutations Allan J Richards, Annie McNinch, Joanne Whittaker, Becky Treacy, Kim Oakhill, Arabella Poulson and Martin P Snead Eur J Hum Genet 2012 20: 552-558; advance online publication, December 21, 2011; 10.1038/ejhg.2011.223 Abstract | Full Text Polymorphisms in the P2X7 receptor gene are associated with low lumbar spine bone mineral density and accelerated bone loss in post-menopausal women Alison Gartland, Kristen K Skarratt, Lynne J Hocking, Claire Parsons, Leanne Stokes, Niklas Rye Jørgensen, William D Fraser, David M Reid, James A Gallagher and James S Wiley Eur J Hum Genet 2012 20: 559-564; advance online publication, January 11, 2012; 10.1038/ejhg.2011.245 Abstract | Full Text Use of the gamma method for self-contained gene-set analysis of SNP data Joanna M Biernacka, Gregory D Jenkins, Liewei Wang, Ann M Moyer and Brooke L Fridley Eur J Hum Genet 2012 20: 565-571; advance online publication, December 14, 2011; 10.1038/ejhg.2011.236 Abstract | Full Text How to deal with the early GWAS data when imputing and combining different arrays is necessary Hae-Won Uh, Joris Deelen, Marian Beekman, Quinta Helmer, Fernando Rivadeneira, Jouke-Jan Hottenga, Dorret I Boomsma, Albert Hofman, André G Uitterlinden, P E Slagboom, Stefan Böhringer and Jeanine J Houwing-Duistermaat Eur J Hum Genet 2012 20: 572-576; advance online publication, December 21, 2011; 10.1038/ejhg.2011.231 Abstract | Full Text Short Reports Top Routine testing for PALB2 mutations in familial pancreatic cancer families and breast cancer families with pancreatic cancer is not indicated Femme Harinck, Irma Kluijt, Saskia E van Mil, Quinten Waisfisz, Theo AM van Os, Cora M Aalfs, Anja Wagner, Maran Olderode-Berends, Rolf H Sijmons, Ernst J Kuipers, Jan-Werner Poley, Paul Fockens and Marco J Bruno Eur J Hum Genet 2012 20: 577-579; advance online publication, December 14, 2011; 10.1038/ejhg.2011.226 Abstract | Full Text Duplication 8q12: confirmation of a novel recognizable phenotype with duane retraction syndrome and developmental delay Cyril Amouroux, Marie Vincent, Patricia Blanchet, Jacques Puechberty, Anouck Schneider, Anne Marie Chaze, Manon Girard, Magali Tournaire, Christian Jorgensen, Denis Morin, Pierre Sarda, Geneviève Lefort and David Geneviève Eur J Hum Genet 2012 20: 580-583; advance online publication, January 18, 2012; 10.1038/ejhg.2011.243 Abstract | Full Text Novel and recurrent non-truncating mutations of the MITF basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromes Sandy Léger, Xavier Balguerie, Alice Goldenberg, Valérie Drouin-Garraud, Annick Cabot, Isabelle Amstutz-Montadert, Paul Young, Pascal Joly, Virginie Bodereau, Muriel Holder-Espinasse, Robyn V Jamieson, Amanda Krause, Hongsheng Chen, Clarisse Baumann, Luis Nunes, Hélène Dollfus, Michel Goossens and Véronique Pingault Eur J Hum Genet 2012 20: 584-587; advance online publication, January 18, 2012; 10.1038/ejhg.2011.234 Abstract | Full Text Homozygous SMN2 deletion is a protective factor in the Swedish ALS population Philippe Corcia, Caroline Ingre, Helene Blasco, Rayomand Press, Julien Praline, Catherine Antar, Charlotte Veyrat-Durebex, Yves-Olivier Guettard, William Camu, Peter M Andersen, Patrick Vourc'h and Christian R Andres Eur J Hum Genet 2012 20: 588-591; advance online publication, January 25, 2012; 10.1038/ejhg.2011.255 Abstract | Full Text Clinical Utility Gene Cards Top Clinical utility gene card for: Werner syndrome Fuki M Hisama, Christian Kubisch, George M Martin and Junko Oshima Eur J Hum Genet 2012 20: ; advance online publication, January 18, 2012; 10.1038/ejhg.2011.265 Full Text Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies) Simon C Ramsden, Alice E Davidson, Bart P Leroy, Anthony T Moore, Andrew R Webster, Graeme C M Black and Forbes D C Manson Eur J Hum Genet 2012 20: ; advance online publication, January 11, 2012; 10.1038/ejhg.2011.251 Full Text Clinical utility gene card for: Biotinidase deficiency Sébastien Küry, Vincent Ramaekers, Stéphane Bézieau and Barry Wolf Eur J Hum Genet 2012 20: ; advance online publication, February 29, 2012; 10.1038/ejhg.2012.28 Full Text Clinical utility gene card for: haemophilia B Peter Vincent Jenkins, Catriona Keenan, Steve Keeney, Tony Cumming and James S O'Donnell Eur J Hum Genet 2012 20: ; advance online publication, January 25, 2012; 10.1038/ejhg.2011.268 Full Text Clinical utility gene card for: familial erythrocytosis Kais Hussein, Melanie Percy and Mary Frances McMullin Eur J Hum Genet 2012 20: ; advance online publication, January 25, 2012; 10.1038/ejhg.2011.252 Full Text Erratum Top Autism multiplex family with 16p11.2p12.2 microduplication syndrome in monozygotic twins and distal 16p11.2 deletion in their brother Anne-Claude Tabet, Marion Pilorge, Richard Delorme, Frédérique Amsellem, Jean-Marc Pinard, Marion Leboyer, Alain Verloes, Brigitte Benzacken and Catalina Betancur Eur J Hum Genet 2012 20: 594; 10.1038/ejhg.2012.32 Full Text Advertisement Invitation is open to all attendees of the European Human Genetics Conference 2012 Join Professor Gert-Jan van Ommen, editor in chief of The European Journal of Human Genetics at our session on June 23 at 14.00!  Find out more!   Natureevents is a fully searchable, multi-disciplinary database designed to maximise exposure for events organisers. 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