European Journal of Human Genetics - Table of Contents alert Volume 23 Issue 10

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PerkinElmer's CE IVD marked chemagicTM instrumentation and kits offer reliable solutions for this challenge by providing • Ready to use DNA, directly from 200 ul whole blood or plasma • 96 samples in < 60 min. • Up to 200 kb DNA fragments suitable for NGS http://www.chemagen.com/cs200ivd.html TABLE OF CONTENTS Volume 23, Issue 10 (October 2015) In this issue Policy Letters Articles Short Reports Clinical Utility Gene Cards Book Review Corrigendum Erratum 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 Policy Top Genomic cloud computing: legal and ethical points to considerEJHGOPEN Edward S Dove, Yann Joly, Anne-Marie Tassé, Public Population Project in Genomics and Society (P3G) International Steering Committee, International Cancer Genome Consortium (ICGC) Ethics and Policy Committee and Bartha M Knoppers Eur J Hum Genet 2015 23: 1271-1278; advance online publication, September 24, 2014; 10.1038/ejhg.2014.196 Abstract | Full Text Letters Top ‘Epistatic interactions between autoimmunity and genetic thrombophilia’ Dimitrios Stoimenis, Nikolaos Petridis and Nikos Papaioannou Eur J Hum Genet 2015 23: 1279; advance online publication, January 28, 2015; 10.1038/ejhg.2014.287 Full Text Reply to Stoimenis et al Burcu Bakir-Gungor, Elaine F Remmers, Akira Meguro, Nobuhisa Mizuki, Daniel L Kastner, Ahmet Gul and Osman Ugur Sezerman Eur J Hum Genet 2015 23: 1280; advance online publication, January 14, 2015; 10.1038/ejhg.2014.288 Full Text Articles Top Genetic testing of children for adult-onset conditions: opinions of the British adult population and implications for clinical practiceEJHGOPEN Shiri Shkedi-Rafid, Angela Fenwick, Sandi Dheensa and Anneke M Lucassen Eur J Hum Genet 2015 23: 1281-1285; advance online publication, November 5, 2014; 10.1038/ejhg.2014.221 Abstract | Full Text Noninvasive prenatal testing using a novel analysis pipeline to screen for all autosomal fetal aneuploidies improves pregnancy management Baran Bayindir, Luc Dehaspe, Nathalie Brison, Paul Brady, Simon Ardui, Molka Kammoun, Lars Van der Veken, Klaske Lichtenbelt, Kris Van den Bogaert, Jeroen Van Houdt, Hilde Peeters, Hilde Van Esch, Thomy de Ravel, Eric Legius, Koen Devriendt and Joris R Vermeesch Eur J Hum Genet 2015 23: 1286-1293; advance online publication, January 14, 2015; 10.1038/ejhg.2014.282 Abstract | Full Text A mixed methods study of age at diagnosis and diagnostic odyssey for Duchenne muscular dystrophy Siaw H Wong, Belinda J McClaren, Alison Dalton Archibald, Alice Weeks, Tess Langmaid, Monique M Ryan, Andrew Kornberg and Sylvia A Metcalfe Eur J Hum Genet 2015 23: 1294-1300; advance online publication, January 28, 2015; 10.1038/ejhg.2014.301 Abstract | Full Text RMND1 deficiency associated with neonatal lactic acidosis, infantile onset renal failure, deafness, and multiorgan involvement Alexandre Janer, Clara DM van Karnebeek, Florin Sasarman, Hana Antonicka, Malak Al Ghamdi, Casper Shyr, Mary Dunbar, Sylvia Stockler-Ispiroglu, Colin J Ross, Hilary Vallance, Janis Dionne, Wyeth W Wasserman and Eric A Shoubridge Eur J Hum Genet 2015 23: 1301-1307; advance online publication, January 21, 2015; 10.1038/ejhg.2014.293 Abstract | Full Text Redefining the MED13L syndrome Abidemi Adegbola, Luciana Musante, Bert Callewaert, Patricia Maciel, Hao Hu, Bertrand Isidor, Sylvie Picker-Minh, Cedric Le Caignec, Barbara Delle Chiaie, Olivier Vanakker, Björn Menten, Annelies Dheedene, Nele Bockaert, Filip Roelens, Karin Decaestecker, João Silva, Gabriela Soares, Fátima Lopes, Hossein Najmabadi, Kimia Kahrizi, Gerald F Cox, Steven P Angus, John F Staropoli, Ute Fischer, Vanessa Suckow, Oliver Bartsch, Andrew Chess, Hans-Hilger Ropers, Thomas F Wienker, Christoph Hübner, Angela M Kaindl and Vera M Kalscheuer Eur J Hum Genet 2015 23: 1308-1317; advance online publication, March 11, 2015; 10.1038/ejhg.2015.26 Abstract | Full Text A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variantsEJHGOPEN Eva Lenassi, Ajoy Vincent, Zheng Li, Zubin Saihan, Alison J Coffey, Heather B Steele-Stallard, Anthony T Moore, Karen P Steel, Linda M Luxon, Elise Héon, Maria Bitner-Glindzicz and Andrew R Webster Eur J Hum Genet 2015 23: 1318-1327; advance online publication, February 4, 2015; 10.1038/ejhg.2014.283 Abstract | Full Text Rare variants in β-Amyloid precursor protein (APP) and Parkinson’s disease Eva C Schulte, Akio Fukumori, Brit Mollenhauer, Hyun Hor, Thomas Arzberger, Robert Perneczky, Alexander Kurz, Janine Diehl-Schmid, Michael Hüll, Peter Lichtner, Gertrud Eckstein, Alexander Zimprich, Dietrich Haubenberger, Walter Pirker, Thomas Brücke, Benjamin Bereznai, Maria J Molnar, Oswaldo Lorenzo-Betancor, Pau Pastor, Annette Peters, Christian Gieger, Xavier Estivill, Thomas Meitinger, Hans A Kretzschmar, Claudia Trenkwalder, Christian Haass and Juliane Winkelmann Eur J Hum Genet 2015 23: 1328-1333; advance online publication, January 21, 2015; 10.1038/ejhg.2014.300 Abstract | Full Text New insights into the genetics of X-linked dystonia-parkinsonism (XDP, DYT3) Aloysius Domingo, Ana Westenberger, Lillian V Lee, Ingrid Brænne, Tian Liu, Inga Vater, Raymond Rosales, Roland Dominic Jamora, Paul Matthew Pasco, Eva Maria Cutiongco-dela Paz, Karen Freimann, Thomas GPM Schmidt, Dirk Dressler, Frank J Kaiser, Lars Bertram, Jeanette Erdmann, Katja Lohmann and Christine Klein Eur J Hum Genet 2015 23: 1334-1340; advance online publication, January 21, 2015; 10.1038/ejhg.2014.292 Abstract | Full Text Compound heterozygosity for KLF1 mutations is associated with microcytic hypochromic anemia and increased fetal hemoglobin Jiwei Huang, Xinhua Zhang, Dun Liu, Xiaofeng Wei, Xuan Shang, Fu Xiong, Lihua Yu, Xiaolin Yin and Xiangmin Xu Eur J Hum Genet 2015 23: 1341-1348; advance online publication, January 14, 2015; 10.1038/ejhg.2014.291 Abstract | Full Text Huntington’s disease biomarker progression profile identified by transcriptome sequencing in peripheral bloodEJHGOPEN Anastasios Mastrokolias, Yavuz Ariyurek, Jelle J Goeman, Erik van Duijn, Raymund AC Roos, Roos C van der Mast, GertJan B van Ommen, Johan T den Dunnen, Peter AC 't Hoen and Willeke MC van Roon-Mom Eur J Hum Genet 2015 23: 1349-1356; advance online publication, January 28, 2015; 10.1038/ejhg.2014.281 Abstract | Full Text Where is the causal variant? On the advantage of the family design over the case–control design in genetic association studies Claire Dandine-Roulland and Hervé Perdry Eur J Hum Genet 2015 23: 1357-1363; advance online publication, January 14, 2015; 10.1038/ejhg.2014.284 Abstract | Full Text Genome-wide inbreeding estimation within Lebanese communities using SNP arrays Nadine Jalkh, Mourad Sahbatou, Eliane Chouery, André Megarbane, Anne-Louise Leutenegger and Jean-Louis Serre Eur J Hum Genet 2015 23: 1364-1369; advance online publication, November 26, 2014; 10.1038/ejhg.2014.246 Abstract | Full Text Genome-wide analysis identifies a role for common copy number variants in specific language impairmentEJHGOPEN Nuala H Simpson, Fabiola Ceroni, Rose H Reader, Laura E Covill, Julian C Knight, the SLI Consortium, Elizabeth R Hennessy, Patrick F Bolton, Gina Conti-Ramsden, Anne O'Hare, Gillian Baird, Simon E Fisher and Dianne F Newbury Eur J Hum Genet 2015 23: 1370-1377; advance online publication, January 14, 2015; 10.1038/ejhg.2014.296 Abstract | Full Text Intelligence: shared genetic basis between Mendelian disorders and a polygenic trait Sanja Franić, Maria M Groen-Blokhuis, Conor V Dolan, Mathijs V Kattenberg, René Pool, Xiangjun Xiao, Paul A Scheet, Erik A Ehli, Gareth E Davies, Sophie van der Sluis, Abdel Abdellaoui, Narelle K Hansell, Nicholas G Martin, James J Hudziak, Catherina E M van Beijsterveldt, Suzanne C Swagerman, Hilleke E Hulshoff Pol, Eco J C de Geus, Meike Bartels, H Hilger Ropers, Jouke-Jan Hottenga and Dorret I Boomsma Eur J Hum Genet 2015 23: 1378-1383; advance online publication, February 25, 2015; 10.1038/ejhg.2015.3 Abstract | Full Text GWAS with longitudinal phenotypes: performance of approximate procedures Karolina Sikorska, Nahid Mostafavi Montazeri, André Uitterlinden, Fernando Rivadeneira, Paul HC Eilers and Emmanuel Lesaffre Eur J Hum Genet 2015 23: 1384-1391; advance online publication, February 25, 2015; 10.1038/ejhg.2015.1 Abstract | Full Text Interleukin-37 gene variants segregated anciently coexist during hominid evolution Bin Kang, Shimeng Cheng, Jinbiao Peng, Jingjing Yan and Shuye Zhang Eur J Hum Genet 2015 23: 1392-1398; advance online publication, January 28, 2015; 10.1038/ejhg.2014.302 Abstract | Full Text Mitochondrial genome diversity at the Bering Strait area highlights prehistoric human migrations from Siberia to northern North America Stanislav V Dryomov, Azhar M Nazhmidenova, Sophia A Shalaurova, Igor V Morozov, Andrei V Tabarev, Elena B Starikovskaya and Rem I Sukernik Eur J Hum Genet 2015 23: 1399-1404; advance online publication, January 7, 2015; 10.1038/ejhg.2014.286 Abstract | Full Text Extensive genome-wide autozygosity in the population isolates of Daghestan Tatiana M Karafet, Kazima B Bulayeva, Oleg A Bulayev, Farida Gurgenova, Jamilia Omarova, Levon Yepiskoposyan, Olga V Savina, Krishna R Veeramah and Michael F Hammer Eur J Hum Genet 2015 23: 1405-1412; advance online publication, January 21, 2015; 10.1038/ejhg.2014.299 Abstract | Full Text Y-chromosome descent clusters and male differential reproductive success: young lineage expansions dominate Asian pastoral nomadic populations Patricia Balaresque, Nicolas Poulet, Sylvain Cussat-Blanc, Patrice Gerard, Lluis Quintana-Murci, Evelyne Heyer and Mark A Jobling Eur J Hum Genet 2015 23: 1413-1422; advance online publication, January 14, 2015; 10.1038/ejhg.2014.285 Abstract | Full Text Short Reports Top Research participants in NGS studies want to know about incidental findings Anne Marie Jelsig, Niels Qvist, Klaus Brusgaard and Lilian Bomme Ousager Eur J Hum Genet 2015 23: 1423-1426; advance online publication, January 21, 2015; 10.1038/ejhg.2014.298 Abstract | Full Text Dominant transmission of de novo KIF1A motor domain variant underlying pure spastic paraplegia Emil Ylikallio, Doyoun Kim, Pirjo Isohanni, Mari Auranen, Eunjoon Kim, Tuula Lönnqvist and Henna Tyynismaa Eur J Hum Genet 2015 23: 1427-1430; advance online publication, January 14, 2015; 10.1038/ejhg.2014.297 Abstract | Full Text Clinical Utility Gene Cards Top Clinical utility gene card for: ALG1 defective congenital disorder of glycosylation Jaak Jaeken, Dirk Lefeber and Gert Matthijs Eur J Hum Genet 2015 23: 1431; advance online publication, February 4, 2015; 10.1038/ejhg.2015.9 Full Text Clinical Utility Gene Card for: Fibrodysplasia ossificans progressiva Nathalie Bravenboer, Dimitra Micha, James T Triffit, Alex N Bullock, Roberto Ravazollo, Renata Bocciardi, Maja di Rocco, J Coen Netelenbos, Peter Ten Dijke, Gonzalo Sánchez-Duffhues, Fred S Kaplan, Eileen M Shore, Robert J Pignolo, Petra Seemann, Francesc Ventura, Genevieve Beaujat, Elizabeth M W Eekhoff and Gerard Pals Eur J Hum Genet 2015 23: 1431; advance online publication, January 21, 2015; 10.1038/ejhg.2014.274 Full Text Clinical utility gene card for: Cornelia de Lange syndrome Feliciano J Ramos, Beatriz Puisac, Carolina Baquero-Montoya, Ma Concepción Gil-Rodríguez, Inés Bueno, Matthew A Deardorff, Raoul C Hennekam, Frank J Kaiser, Ian D Krantz, Antonio Musio, Angelo Selicorni, David R FitzPatrick and Juan Pié Eur J Hum Genet 2015 23: 1431; advance online publication, December 24, 2014; 10.1038/ejhg.2014.270 Full Text Clinical utility gene card for: Arterial tortuosity syndrome Juliette Albuisson, Pamela Moceri, Elisabeth Flori, Emre Belli, Céline Gronier and Xavier Jeunemaitre Eur J Hum Genet 2015 23: 1432; advance online publication, January 21, 2015; 10.1038/ejhg.2014.294 Full Text Book Review Top Evaluation and Treatment of Myopathies J Haberlová Eur J Hum Genet 2015 23: 1433; 10.1038/ejhg.2015.127 Full Text Corrigendum Top Genome-wide inbreeding estimation within Lebanese communities using SNP arrays Nadine Jalkh, Mourad Sahbatou, Eliane Chouery, André Megarbane, Anne-Louise Leutenegger and Jean-Louis Serre Eur J Hum Genet 2015 23: 1434; 10.1038/ejhg.2015.17 Full Text Erratum Top The phenotype of congenital insensitivity to pain due to the NaV1.9 variant p.L811P Christopher Geoffrey Woods, Mohamed Osman Eltahir Babiker, Iain Horrocks, John Tolmie and Ingo Kurth Eur J Hum Genet 2015 23: 1434; 10.1038/ejhg.2015.163 Full Text Natureevents is a fully searchable, multi-disciplinary database designed to maximise exposure for events organisers. 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