European Journal of Human Genetics - Table of Contents alert Volume 23 Issue 11

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Advertisement High Quality DNA/RNA Isolation from 0.5 - 4 ml Blood The fast and reasonable priced isolation of high-quality DNA/RNA from whole blood samples presents a key bottleneck for sensitive research downstream applications like NGS, MLPA, Genotyping etc. Discover PerkinElmer's chemagic instrumentation/kits, providing perfect solutions for this challenge. Visit http://www.chemagen.com/medvolblood.html to find out how PerkinElmer enables you to generate high quality data for your genetic research. TABLE OF CONTENTS Volume 23, Issue 11 (October 2015) In this issue Viewpoint Policy Review Letter Articles Short Reports Clinical Utility Gene Cards Updates Book Reviews Corrigenda Also new AOP Advertisement COMPLETE SUCCESS BEGINS WITH NGS SAMPLE QC   The new Agilent 4200 TapeStation system is a complete solution for true end-to-end sample QC within any NGS workflow covering the full DNA and RNA sizing range. You get:  • Automated sample processing • Full range of sizing applications for DNA and RNA • Flexible sampling from 1 to 96 samples • Ready-to-use ScreenTape Watch video. Sign up for e-alerts Recommend to your library Web feed Subscribe Advertisement Introducing THE DARWIN CANCER BLOG — "keeping an evolutionary eye on cancer" led by Prof. Mel Greaves and brought to you by BJC. This blog provides a forum for discussing how an evolutionary perspective is changing thinking about cancer and aims to encourage discussion and debate among specialists and general interest readers. »Start reading the latest content   Viewpoint Top It is time to take timing seriously in clinical genetics György Kosztolányi Eur J Hum Genet 2015 23: 1435-1437; advance online publication, December 24, 2014; 10.1038/ejhg.2014.271 Abstract | Full Text Policy Top Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screeningEJHGOPEN Wybo Dondorp, Guido de Wert, Yvonne Bombard, Diana W Bianchi, Carsten Bergmann, Pascal Borry, Lyn S Chitty, Florence Fellmann, Francesca Forzano, Alison Hall, Lidewij Henneman, Heidi C Howard, Anneke Lucassen, Kelly Ormond, Borut Peterlin, Dragica Radojkovic, Wolf Rogowski, Maria Soller, Aad Tibben, Lisbeth Tranebjærg, Carla G van El and Martina C Cornel on behalf of the European Society of Human Genetics (ESHG) and the American Society of Human Genetics (ASHG) Eur J Hum Genet 2015 23: 1438-1450; advance online publication, March 18, 2015; 10.1038/ejhg.2015.57 Abstract | Full Text Review Top CHARGE syndrome: a review of the immunological aspects Monica TY Wong, Elisabeth H Schölvinck, Annechien JA Lambeck and Conny MA van Ravenswaaij-Arts Eur J Hum Genet 2015 23: 1451-1459; advance online publication, February 18, 2015; 10.1038/ejhg.2015.7 Abstract | Full Text Letter Top Arg1809 substitution in neurofibromin: further evidence of a genotype–phenotype correlation in neurofibromatosis type 1 Claudia Santoro, Anna Maietta, Teresa Giugliano, Daniela Melis, Silverio Perrotta, Vincenzo Nigro and Giulio Piluso Eur J Hum Genet 2015 23: 1460-1461; advance online publication, May 13, 2015; 10.1038/ejhg.2015.93 Full Text Articles Top A group approach to genetic counselling of cardiomyopathy patients: satisfaction and psychological outcomes sufficient for further implementationEJHGOPEN Ellen Otten, Erwin Birnie, Adelita V Ranchor, J Peter van Tintelen and Irene M van Langen Eur J Hum Genet 2015 23: 1462-1467; advance online publication, February 4, 2015; 10.1038/ejhg.2015.10 Abstract | Full Text Quality issues concerning genetic counselling for presymptomatic testing: a European Delphi study Milena Paneque, Jorge Sequeiros and Heather Skirton Eur J Hum Genet 2015 23: 1468-1472; advance online publication, February 18, 2015; 10.1038/ejhg.2015.23 Abstract | Full Text DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies Jianling Ji, Hane Lee, Bob Argiropoulos, Naghmeh Dorrani, John Mann, Julian A Martinez-Agosto, Natalia Gomez-Ospina, Natalie Gallant, Jonathan A Bernstein, Louanne Hudgins, Leah Slattery, Bertrand Isidor, Cédric Le Caignec, Albert David, Ewa Obersztyn, Barbara Wiśniowiecka-Kowalnik, Michelle Fox, Joshua L Deignan, Eric Vilain, Emily Hendricks, Margaret Horton Harr, Sarah E Noon, Jessi R Jackson, Alisha Wilkens, Ghayda Mirzaa, Noriko Salamon, Jeff Abramson, Elaine H Zackai, Ian Krantz, A Micheil Innes, Stanley F Nelson, Wayne W Grody and Fabiola Quintero-Rivera Eur J Hum Genet 2015 23: 1473-1481; advance online publication, May 6, 2015; 10.1038/ejhg.2015.71 Abstract | Full Text Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A Lucas M Bronicki, Claire Redin, Severine Drunat, Amélie Piton, Michael Lyons, Sandrine Passemard, Clarisse Baumann, Laurence Faivre, Julien Thevenon, Jean-Baptiste Rivière, Bertrand Isidor, Grace Gan, Christine Francannet, Marjolaine Willems, Murat Gunel, Julie R Jones, Joseph G Gleeson, Jean-Louis Mandel, Roger E Stevenson, Michael J Friez and Arthur S Aylsworth Eur J Hum Genet 2015 23: 1482-1487; advance online publication, April 29, 2015; 10.1038/ejhg.2015.29 Abstract | Full Text Comprehensive clinical studies in 34 patients with molecularly defined UPD(14)pat and related conditions (Kagami–Ogata syndrome)EJHGOPEN Masayo Kagami, Kenji Kurosawa, Osamu Miyazaki, Fumitoshi Ishino, Kentaro Matsuoka and Tsutomu Ogata Eur J Hum Genet 2015 23: 1488-1498; advance online publication, February 18, 2015; 10.1038/ejhg.2015.13 Abstract | Full Text Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome Concetta Cafiero, Giuseppe Marangi, Daniela Orteschi, Marwan Ali, Alessia Asaro, Emanuela Ponzi, Alice Moncada, Stefania Ricciardi, Marina Murdolo, Giorgia Mancano, Ilaria Contaldo, Vincenzo Leuzzi, Domenica Battaglia, Eugenio Mercuri, Anne M Slavotinek and Marcella Zollino Eur J Hum Genet 2015 23: 1499-1504; advance online publication, February 25, 2015; 10.1038/ejhg.2015.19 Abstract | Full Text CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms Lena Damaj, Alexis Lupien-Meilleur, Anne Lortie, Émilie Riou, Luis H Ospina, Louise Gagnon, Catherine Vanasse and Elsa Rossignol Eur J Hum Genet 2015 23: 1505-1512; advance online publication, March 4, 2015; 10.1038/ejhg.2015.21 Abstract | Full Text Next-generation sequencing in X-linked intellectual disability Andreas Tzschach, Ute Grasshoff, Stefanie Beck-Woedl, Claudia Dufke, Claudia Bauer, Martin Kehrer, Christina Evers, Ute Moog, Barbara Oehl-Jaschkowitz, Nataliya Di Donato, Robert Maiwald, Christine Jung, Alma Kuechler, Solveig Schulz, Peter Meinecke, Stephanie Spranger, Jürgen Kohlhase, Jörg Seidel, Silke Reif, Manuela Rieger, Angelika Riess, Marc Sturm, Julia Bickmann, Christopher Schroeder, Andreas Dufke, Olaf Riess and Peter Bauer Eur J Hum Genet 2015 23: 1513-1518; advance online publication, February 4, 2015; 10.1038/ejhg.2015.5 Abstract | Full Text Involvement of astrocyte metabolic coupling in Tourette syndrome pathogenesis Christiaan de Leeuw, Andrea Goudriaan, August B Smit, Dongmei Yu, Carol A Mathews, Jeremiah M Scharf, Tourette Syndrome Association International Consortium for Genetics, Mark H G Verheijen and Danielle Posthuma Eur J Hum Genet 2015 23: 1519-1522; advance online publication, March 4, 2015; 10.1038/ejhg.2015.22 Abstract | Full Text Next generation sequencing in sporadic retinoblastoma patients reveals somatic mosaicism Sara Amitrano, Annabella Marozza, Serena Somma, Valentina Imperatore, Theodora Hadjistilianou, Sonia De Francesco, Paolo Toti, Daniela Galimberti, Ilaria Meloni, Francesco Cetta, Pietro Piu, Chiara Di Marco, Laura Dosa, Caterina Lo Rizzo, Giulia Carignani, Maria Antonietta Mencarelli, Francesca Mari, Alessandra Renieri and Francesca Ariani Eur J Hum Genet 2015 23: 1523-1530; advance online publication, February 25, 2015; 10.1038/ejhg.2015.6 Abstract | Full Text Differential allelic expression of SOS1 and hyperexpression of the activating SOS1 c.755C variant in a Noonan syndrome family Silvia Moncini, Maria Teresa Bonati, Ilaria Morella, Luca Ferrari, Riccardo Brambilla and Paola Riva Eur J Hum Genet 2015 23: 1531-1537; advance online publication, February 25, 2015; 10.1038/ejhg.2015.20 Abstract | Full Text KLLN epigenotype–phenotype associations in Cowden syndromeEJHGOPEN Emily A Nizialek, Jessica L Mester, Vineet K Dhiman, Dominic J Smiraglia and Charis Eng Eur J Hum Genet 2015 23: 1538-1543; advance online publication, February 11, 2015; 10.1038/ejhg.2015.8 Abstract | Full Text Genome-wide genetic investigation of serological measures of common infections Rohina Rubicz, Robert Yolken, Eugene Drigalenko, Melanie A Carless, Thomas D Dyer, Jack Kent Jr, Joanne E Curran, Matthew P Johnson, Shelley A Cole, Sharon P Fowler, Rector Arya, Sobha Puppala, Laura Almasy, Eric K Moses, Ellen Kraig, Ravindranath Duggirala, John Blangero, Charles T Leach and Harald HH Göring Eur J Hum Genet 2015 23: 1544-1548; advance online publication, March 11, 2015; 10.1038/ejhg.2015.24 Abstract | Full Text Y-chromosome diversity in Catalan surname samples: insights into surname origin and frequency Neus Solé-Morata, Jaume Bertranpetit, David Comas and Francesc Calafell Eur J Hum Genet 2015 23: 1549-1557; advance online publication, February 18, 2015; 10.1038/ejhg.2015.14 Abstract | Full Text Kullback–Leibler divergence for detection of rare haplotype common disease association Shili Lin Eur J Hum Genet 2015 23: 1558-1565; advance online publication, March 4, 2015; 10.1038/ejhg.2015.25 Abstract | Full Text A gene-based information gain method for detecting gene–gene interactions in case–control studies Jin Li, Dongli Huang, Maozu Guo, Xiaoyan Liu, Chunyu Wang, Zhixia Teng, Ruijie Zhang, Yongshuai Jiang, Hongchao Lv and Limei Wang Eur J Hum Genet 2015 23: 1566-1572; advance online publication, March 11, 2015; 10.1038/ejhg.2015.16 Abstract | Full Text EIF3G is associated with narcolepsy across ethnicities Anja Holm, Ling Lin, Juliette Faraco, Sara Mostafavi, Alexis Battle, Xiaowei Zhu, Douglas F Levinson, Fang Han, Steen Gammeltoft, Poul Jennum, Emmanuel Mignot and Birgitte R Kornum Eur J Hum Genet 2015 23: 1573-1580; advance online publication, February 11, 2015; 10.1038/ejhg.2015.4 Abstract | Full Text Short Reports Top Validation of rs2956540:G>C and rs3735520:G>A association with keratoconus in a population of European descent Lubica Dudakova, Michalis Palos, Katerina Jirsova, Viktor Stranecky, Anna Krepelova, Pirro G Hysi and Petra Liskova Eur J Hum Genet 2015 23: 1581-1583; advance online publication, March 4, 2015; 10.1038/ejhg.2015.28 Abstract | Full Text Performance of the 12-item WHODAS 2.0 in prodromal Huntington diseaseEJHGOPEN Ji-In Kim, Jeffrey D Long, James A Mills, Nancy Downing, Janet K Williams, Jane S Paulsen and the PREDICT-HD Investigators and Coordinators of the Huntington Study Group Eur J Hum Genet 2015 23: 1584-1587; advance online publication, March 4, 2015; 10.1038/ejhg.2015.11 Abstract | Full Text Clinical Utility Gene Cards Updates Top Clinical utility gene card for: Nemaline myopathy – update 2015 Kristen J Nowak, Mark R Davis, Carina Wallgren-Pettersson, Phillipa J Lamont and Nigel G Laing Eur J Hum Genet 2015 23: ; advance online publication, February 25, 2015; 10.1038/ejhg.2015.12 Full Text Clinical utility gene card for: Proximal spinal muscular atrophy (SMA) – update 2015 Sabine Rudnik-Schöneborn, Thomas Eggermann, Wolfram Kress, Henny H Lemmink, Jan-Maarten Cobben and Klaus Zerres Eur J Hum Genet 2015 23: ; advance online publication, May 20, 2015; 10.1038/ejhg.2015.90 Full Text Clinical utility gene card for: CHARGE syndrome - update 2015 Conny MA van Ravenswaaij-Arts, Kim Blake, Lies Hoefsloot and Alain Verloes Eur J Hum Genet 2015 23: ; advance online publication, February 18, 2015; 10.1038/ejhg.2015.15 Full Text Book Reviews Top Neurogenetics ‘What do I do now?’ series Emma Burkitt Wright Eur J Hum Genet 2015 23: 1590; 10.1038/ejhg.2015.137 Full Text Genetic Counseling Research—A Practical Guide Vigdís Stefánsdóttir Eur J Hum Genet 2015 23: 1591; 10.1038/ejhg.2015.62 Full Text Corrigenda Top Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening Wybo Dondorp, Guido de Wert, Yvonne Bombard, Diana W Bianchi, Carsten Bergmann, Pascal Borry, Lyn S Chitty, Florence Fellmann, Francesca Forzano, Alison Hall, Lidewij Henneman, Heidi C Howard, Anneke Lucassen, Kelly Ormond, Borut Peterlin, Dragica Radojkovic, Wolf Rogowski, Maria Soller, Aad Tibben, Lisbeth Tranebjærg, Carla G van El and Martina C Cornel on behalf of the European Society of Human Genetics (ESHG) and the American Society of Human Genetics (ASHG) Eur J Hum Genet 2015 23: 1592; 10.1038/ejhg.2015.109 Full Text Microsatellite data show recent demographic expansions in sedentary but not in nomadic human populations in Africa and Eurasia Carla Aime, Paul Verdu, Laure Ségurel, Begoña Martinez-Cruz, Tatyana Hegay, Evelyne Heyer and Frédéric Austerlitz Eur J Hum Genet 2015 23: 1592; 10.1038/ejhg.2014.276 Full Text Natureevents is a fully searchable, multi-disciplinary database designed to maximise exposure for events organisers. 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