European Journal of Human Genetics - Table of Contents alert Volume 22 Issue 2

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Advertisement Accelerate Your NGS Sample Quality Control. New Agilent ScreenTape assays for total RNA, genomic DNA and library samples allow you to effectively accelerate your NGS QC. Used with the Agilent 2200 TapeStation system you get automated and reproducible digital assessment of sample size and concentration as well as an objective quality evaluation through RINe. See the data. TABLE OF CONTENTS Volume 22, Issue 2 (February 2014) In this issue News and Commentary Letters Policy Review Articles Short Reports Clinical Utility Gene Cards Corrigenda Also new AOP Sign up for e-alerts Recommend to your library Web feed Subscribe Advertisement Web Focus: Biobanks This web collection is published in conjunction with the HandsOn: Biobanks conference 2013. During HandsOn: Biobanks 2013, the focus will be on all matters of biobanking and specifically on how biobanking interacts and links with other disciplines.  Access the Web Focus online.  News and Commentary Top Do BRCA1/2 mutations and low FMR1 alleles interact or not? Norbert Gleicher, Andrea Weghofer and David H Barad Eur J Hum Genet 2014 22: 155-156; advance online publication, September 25, 2013; 10.1038/ejhg.2013.213 Full Text Letters Top Comment on Gialluisi et al Leo P ten Kate, Marieke Teeuw, Lidewij Henneman and Martina C Cornel Eur J Hum Genet 2014 22: 157; advance online publication, July 17, 2013; 10.1038/ejhg.2013.152 Full Text Reply to ten Kate et al Alessandro Gialluisi, Tommaso Pippucci and Giovanni Romeo Eur J Hum Genet 2014 22: 157-158; advance online publication, July 17, 2013; 10.1038/ejhg.2013.153 Full Text Reconciling clinical importance and statistical significance Daniel Shriner, Adebowale Adeyemo and Charles N Rotimi Eur J Hum Genet 2014 22: 158-159; advance online publication, May 22, 2013; 10.1038/ejhg.2013.110 Full Text Policy Top Recommendations for reporting results of diagnostic genetic testing (biochemical, cytogenetic and molecular genetic)EJHGOPEN Mireille Claustres, Viktor Kožich, Els Dequeker, Brain Fowler, Jayne Y Hehir-Kwa, Konstantin Miller, Cor Oosterwijk, Borut Peterlin, Conny van Ravenswaaij-Arts, Uwe Zimmermann, Orsetta Zuffardi, Ros J Hastings and David E Barton on behalf of the ESHG Quality committee Eur J Hum Genet 2014 22: 160-170; advance online publication, August 14, 2013; 10.1038/ejhg.2013.125 Abstract | Full Text Review Top Shining a light on CNTNAP2: complex functions to complex disorders Pedro Rodenas-Cuadrado, Joses Ho and Sonja C Vernes Eur J Hum Genet 2014 22: 171-178; advance online publication, May 29, 2013; 10.1038/ejhg.2013.100 Abstract | Full Text Articles Top Severe forms of Baraitser–Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations N Di Donato, A Rump, R Koenig, V M Der Kaloustian, F Halal, K Sonntag, C Krause, K Hackmann, G Hahn, E Schrock and A Verloes Eur J Hum Genet 2014 22: 179-183; advance online publication, June 12, 2013; 10.1038/ejhg.2013.130 Abstract | Full Text Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 geneEJHGOPEN Johanna Uusimaa, Julie Evans, Conrad Smith, Anna Butterworth, Kate Craig, Neil Ashley, Chunyan Liao, Janet Carver, Alan Diot, Lorna Macleod, Iain Hargreaves, Abdulrahman Al-Hussaini, Eissa Faqeih, Ali Asery, Mohammed Al Balwi, Wafaa Eyaid, Areej Al-Sunaid, Deirdre Kelly, Indra van Mourik, Sarah Ball, Joanna Jarvis, Arundhati Mulay, Nedim Hadzic, Marianne Samyn, Alastair Baker, Shamima Rahman, Helen Stewart, Andrew AM Morris, Anneke Seller, Carl Fratter, Robert W Taylor and Joanna Poulton Eur J Hum Genet 2014 22: 184-191; advance online publication, May 29, 2013; 10.1038/ejhg.2013.112 Abstract | Full Text Experiences, considerations and emotions relating to cardiogenetic evaluation in relatives of young sudden cardiac death victims Christian van der Werf, Astrid T Onderwater, Irene M van Langen and Ellen MA Smets Eur J Hum Genet 2014 22: 192-196; advance online publication, June 5, 2013; 10.1038/ejhg.2013.126 Abstract | Full Text CACP syndrome: identification of five novel mutations and of the first case of UPD in the largest European cohort Sara Ciullini Mannurita, Marina Vignoli, Lucia Bianchi, Anuela Kondi, Valeria Gerloni, Luciana Breda, Rebecca ten Cate, Maria Alessio, Angelo Ravelli, Fernanda Falcini and Eleonora Gambineri Eur J Hum Genet 2014 22: 197-201; advance online publication, June 12, 2013; 10.1038/ejhg.2013.123 Abstract | Full Text Non-meiotic chromosome instability in human immature oocytes Gemma Daina, Laia Ramos, Mariona Rius, Albert Obradors, Javier del Rey, Magda Giralt, Mercedes Campillo, Esther Velilla, Aïda Pujol, Olga Martinez-Pasarell, Jordi Benet and Joaquima Navarro Eur J Hum Genet 2014 22: 202-207; advance online publication, May 22, 2013; 10.1038/ejhg.2013.106 Abstract | Full Text Novel form of X-linked nonsyndromic hearing loss with cochlear malformation caused by a mutation in the type IV collagen gene COL4A6 Simone Rost, Elisa Bach, Cordula Neuner, Indrajit Nanda, Sandra Dysek, Reginald E Bittner, Alexander Keller, Oliver Bartsch, Robert Mlynski, Thomas Haaf, Clemens R Müller and Erdmute Kunstmann Eur J Hum Genet 2014 22: 208-215; advance online publication, May 29, 2013; 10.1038/ejhg.2013.108 Abstract | Full Text The sex-specific associations of the aromatase gene with Alzheimer’s disease and its interaction with IL10 in the Epistasis Project Christopher Medway, Onofre Combarros, Mario Cortina-Borja, Helen T Butler, Carla A Ibrahim-Verbaas, Renée F A G de Bruijn, Peter J Koudstaal, Cornelia M van Duijn, M Arfan Ikram, Ignacio Mateo, Pascual Sánchez-Juan, Michael G Lehmann, Reinhard Heun, Heike Kölsch, Panos Deloukas, Naomi Hammond, Eliecer Coto, Victoria Alvarez, Patrick G Kehoe, Rachel Barber, Gordon K Wilcock, Kristelle Brown, Olivia Belbin, Donald R Warden, A David Smith, Kevin Morgan and Donald J Lehmann Eur J Hum Genet 2014 22: 216-220; advance online publication, June 5, 2013; 10.1038/ejhg.2013.116 Abstract | Full Text The Genome of the Netherlands: design, and project goalsEJHGOPEN Dorret I Boomsma, Cisca Wijmenga, Eline P Slagboom, Morris A Swertz, Lennart C Karssen, Abdel Abdellaoui, Kai Ye, Victor Guryev, Martijn Vermaat, Freerk van Dijk, Laurent C Francioli, Jouke Jan Hottenga, Jeroen F J Laros, Qibin Li, Yingrui Li, Hongzhi Cao, Ruoyan Chen, Yuanping Du, Ning Li, Sujie Cao, Jessica van Setten, Androniki Menelaou, Sara L Pulit, Jayne Y Hehir-Kwa, Marian Beekman, Clara C Elbers, Heorhiy Byelas, Anton J M de Craen, Patrick Deelen, Martijn Dijkstra, Johan T den Dunnen, Peter de Knijff, Jeanine Houwing-Duistermaat, Vyacheslav Koval, Karol Estrada, Albert Hofman, Alexandros Kanterakis, David van Enckevort, Hailiang Mai, Mathijs Kattenberg, Elisabeth M van Leeuwen, Pieter B T Neerincx, Ben Oostra, Fernanodo Rivadeneira, Eka H D Suchiman, Andre G Uitterlinden, Gonneke Willemsen, Bruce H Wolffenbuttel, Jun Wang, Paul I W de Bakker, Gert-Jan van Ommen and Cornelia M van Duijn Eur J Hum Genet 2014 22: 221-227; advance online publication, May 29, 2013; 10.1038/ejhg.2013.118 Abstract | Full Text Complete mtDNA genomes of Filipino ethnolinguistic groups: a melting pot of recent and ancient lineages in the Asia-Pacific region Frederick Delfin, Albert Min-Shan Ko, Mingkun Li, Ellen D Gunnarsdóttir, Kristina A Tabbada, Jazelyn M Salvador, Gayvelline C Calacal, Minerva S Sagum, Francisco A Datar, Sabino G Padilla, Maria Corazon A De Ungria and Mark Stoneking Eur J Hum Genet 2014 22: 228-237; advance online publication, June 12, 2013; 10.1038/ejhg.2013.122 Abstract | Full Text Accurate prediction of a minimal region around a genetic association signal that contains the causal variant Zoltán Bochdanovits, Javier Simón-Sánchez, Marianne Jonker, Witte J Hoogendijk, Aad van der Vaart and Peter Heutink Eur J Hum Genet 2014 22: 238-242; advance online publication, June 5, 2013; 10.1038/ejhg.2013.115 Abstract | Full Text A novel method, the Variant Impact On Linkage Effect Test (VIOLET), leads to improved identification of causal variants in linkage regions Lisa J Martin, Lili Ding, Xue Zhang, Ahmed H Kissebah, Michael Olivier and D Woodrow Benson Eur J Hum Genet 2014 22: 243-247; advance online publication, June 5, 2013; 10.1038/ejhg.2013.120 Abstract | Full Text A panel of ancestry informative markers to estimate and correct potential effects of population stratification in Han Chinese Pengfei Qin, Zhiqiang Li, Wenfei Jin, Dongsheng Lu, Haiyi Lou, Jiawei Shen, Li Jin, Yongyong Shi and Shuhua Xu Eur J Hum Genet 2014 22: 248-253; advance online publication, May 29, 2013; 10.1038/ejhg.2013.111 Abstract | Full Text Random forest fishing: a novel approach to identifying organic group of risk factors in genome-wide association studies Wei Yang and C Charles Gu Eur J Hum Genet 2014 22: 254-259; advance online publication, May 22, 2013; 10.1038/ejhg.2013.109 Abstract | Full Text The policies of ethics committees in the management of biobanks used for research: an Italian survey Corinna Porteri, Elena Togni and Patrizio Pasqualetti Eur J Hum Genet 2014 22: 260-265; advance online publication, May 22, 2013; 10.1038/ejhg.2013.107 Abstract | Full Text Short Reports Top Clarifying assent in pediatric research Noor A A Giesbertz, Annelien L Bredenoord and Johannes J M van Delden Eur J Hum Genet 2014 22: 266-269; advance online publication, June 12, 2013; 10.1038/ejhg.2013.119 Abstract | Full Text Mutations in the C-terminus of CDKL5: proceed with caution Bertrand Diebold, Chloé Delépine, Svetlana Gataullina, Andrée Delahaye, Juliette Nectoux and Thierry Bienvenu Eur J Hum Genet 2014 22: 270-272; advance online publication, June 12, 2013; 10.1038/ejhg.2013.133 Abstract | Full Text Biochemical screening and PTEN mutation analysis in individuals with autism spectrum disorders and macrocephaly Judith A Hobert, Rebecca Embacher, Jessica L Mester, Thomas W Frazier, II and Charis Eng Eur J Hum Genet 2014 22: 273-276; advance online publication, May 22, 2013; 10.1038/ejhg.2013.114 Abstract | Full Text BRCA1/2 mutations and FMR1 alleles are randomly distributed: a case control study Efrat Dagan, Yoram Cohen, Adi Mory, Vardit Adir, Zvi Borochowitz, Hila Raanani, Alina Kurolap, Svetlana Melikhan-Revzin, Dror Meirow and Ruth Gershoni-Baruch Eur J Hum Genet 2014 22: 277-279; advance online publication, November 27, 2013; 10.1038/ejhg.2013.281 Abstract | Full Text The FMR1 CGG repeat test is not a candidate prescreening tool for identifying women with a high probability of being carriers of BRCA mutations Maria Teresa Ricci, Loredana Pennese, Viviana Gismondi, Chiara Perfumo, Marina Grasso, Elena Gennaro, Paolo Bruzzi and Liliana Varesco Eur J Hum Genet 2014 22: 280-282; advance online publication, September 25, 2013; 10.1038/ejhg.2013.193 Abstract | Full Text A MEN1 syndrome with a paraganglioma Yvan Jamilloux, Judith Favier, Morgane Pertuit, Manuela Delage-Corre, Stéphanie Lopez, Marie-Pierre Teissier, Muriel Mathonnet, Sophie Galinat, Anne Barlier and Françoise Archambeaud Eur J Hum Genet 2014 22: 283-285; advance online publication, June 19, 2013; 10.1038/ejhg.2013.128 Abstract | Full Text Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutations Solaf M Elsayed, Raoul Heller, Michaela Thoenes, Maha S Zaki, Daniel Swan, Ezzat Elsobky, Christine Zühlke, Inga Ebermann, Gudrun Nürnberg, Peter Nürnberg and Hanno J Bolz Eur J Hum Genet 2014 22: 286-288; advance online publication, July 10, 2013; 10.1038/ejhg.2013.150 Abstract | Full Text Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability Frederic Tran Mau-Them, Marjolaine Willems, Beate Albrecht, Elodie Sanchez, Jacques Puechberty, Sabine Endele, Anouck Schneider, Nathalie Ruiz Pallares, Chantal Missirian, Francois Rivier, Manon Girard, Muriel Holder, Sylvie Manouvrier, Isabelle Touitou, Genevieve Lefort, Pierre Sarda, Anne Moncla, Severine Drunat, Dagmar Wieczorek and David Genevieve Eur J Hum Genet 2014 22: 289-292; advance online publication, May 15, 2013; 10.1038/ejhg.2013.113 Abstract | Full Text Clinical Utility Gene Cards Top Clinical utility gene card for: Tuberous sclerosis complex (TSC1, TSC2) Karin Mayer, Christa Fonatsch, Katharina Wimmer, Ans MW van den Ouweland and Anneke JA Maat-Kievit Eur J Hum Genet 2014 22: ; advance online publication, June 12, 2013; 10.1038/ejhg.2013.129 Full Text Clinical utility gene card for: Hereditary thrombocythemia Kais Hussein, Melanie Percy, Mary Frances McMullin, Jiří Schwarz, Susanne Schnittger, Naomi Porret, Luz Maria Martinez-Aviles, Beatriz Bellosillo Paricio, Stéphane Giraudier, Radek Skoda, Eric Lippert, Sylvie Hermouet and Holger Cario Eur J Hum Genet 2014 22: ; advance online publication, June 5, 2013; 10.1038/ejhg.2013.117 Full Text Clinical utility gene card for: arrhythmogenic right ventricular cardiomyopathy (ARVC) Wouter P te Rijdt, Jan DH Jongbloed, Rudolf A de Boer, Gaetano Thiene, Cristina Basso, Maarten P van den Berg and J Peter van Tintelen Eur J Hum Genet 2014 22: ; advance online publication, June 5, 2013; 10.1038/ejhg.2013.124 Full Text Corrigenda Top BRCA1/2 mutations and FMR1 alleles are randomly distributed: a case control study Efrat Dagan, Yoram Cohen, Adi Mory, Vardit Adir, Zvi Borochowitz, Hila Raanani, Alina Kurolap, Svetlana Melikhan-Revzin, Dror Meirow and Ruth Gershoni-Baruch Eur J Hum Genet 2014 22: 295; 10.1038/ejhg.2013.294 Full Text The homozygosity index (HI) approach reveals high allele frequency for Wilson disease in the Sardinian population Alessandro Gialluisi, Simona Incollu, Tommaso Pippucci, Maria Barbara Lepori, Antonietta Zappu, Georgios Loudianos and Giovanni Romeo Eur J Hum Genet 2014 22: 295; 10.1038/ejhg.2013.261 Full Text Advertisement Discover a world of scientific events.  The 2014 Natureevents Directory is packed with valuable information covering a complete range of scientific events, conferences and courses from around the world. 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