European Journal of Human Genetics - Table of Contents alert Volume 24 Issue 4

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TABLE OF CONTENTS Volume 24, Issue 4 (April 2016) In this issue Policy Review Letter Articles Short Reports Book Reviews Also new AOP Sign up for e-alerts Recommend to your library Web feed Subscribe Advertisement Top cited papers from 2014 and 2015 The European Journal of Human Genetics is proud to publish a wide variety of articles in the blossoming field of human genetics and genomics. In this web focus we highlight the best cited articles published in 2014 and 2015, ten of each year. As you can now read for yourself, our readers cater for a broad and interesting mix of scientific, service- and societal issues, whilst also population genetics, biobanking and methods improvement can get you well-cited in EJHG. Access the web focus   Policy Top The improvement of the best practice guidelines for preimplantation genetic diagnosis of cystic fibrosis: toward an international consensusEJHGOPEN Anne Girardet, Victoria Viart, Stéphanie Plaza, Gemma Daina, Martine De Rycke, Marie Des Georges, Francesco Fiorentino, Gary Harton, Aliya Ishmukhametova, Joaquima Navarro, Caroline Raynal, Pamela Renwick, Florielle Saguet, Martin Schwarz, Sioban SenGupta, Maria Tzetis, Anne-Françoise Roux and Mireille Claustres Eur J Hum Genet 2016 24: 469-478; advance online publication, May 27, 2015; 10.1038/ejhg.2015.99 Abstract | Full Text EMQN best practice guidelines for the molecular genetic diagnosis of hereditary hemochromatosis (HH)EJHGOPEN Graça Porto, Pierre Brissot, Dorine W Swinkels, Heinz Zoller, Outi Kamarainen, Simon Patton, Isabel Alonso, Michael Morris and Steve Keeney Eur J Hum Genet 2016 24: 479-495; advance online publication, July 8, 2015; 10.1038/ejhg.2015.128 Abstract | Full Text Review Top Impact of presymptomatic genetic testing on young adults: a systematic review Lea Godino, Daniela Turchetti, Leigh Jackson, Catherine Hennessy and Heather Skirton Eur J Hum Genet 2016 24: 496-503; advance online publication, July 15, 2015; 10.1038/ejhg.2015.153 Abstract | Full Text Letter Top The need to develop an evidence base for genetic counselling in Europe Marion McAllister, Ramona Moldovan, Milena Paneque and Heather Skirton Eur J Hum Genet 2016 24: 504-505; advance online publication, July 15, 2015; 10.1038/ejhg.2015.134 Full Text Articles Top Attitudes of cystic fibrosis patients and parents toward carrier screening and related reproductive issues Sandra Janssens, Davit Chokoshvilli, Carmen Binst, Inge Mahieu, Lidewij Henneman, Anne De Paepe and Pascal Borry Eur J Hum Genet 2016 24: 506-512; advance online publication, July 29, 2015; 10.1038/ejhg.2015.160 Abstract | Full Text Telegenetics use in presymptomatic genetic counselling: patient evaluations on satisfaction and quality of care Ellen Otten, Erwin Birnie, Adelita V Ranchor and Irene M van Langen Eur J Hum Genet 2016 24: 513-520; advance online publication, July 15, 2015; 10.1038/ejhg.2015.164 Abstract | Full Text Harmonising and linking biomedical and clinical data across disparate data archives to enable integrative cross-biobank researchEJHGOPEN Ola Spjuth, Maria Krestyaninova, Janna Hastings, Huei-Yi Shen, Jani Heikkinen, Melanie Waldenberger, Arnulf Langhammer, Claes Ladenvall, Tõnu Esko, Mats-Åke Persson, Jon Heggland, Joern Dietrich, Sandra Ose, Christian Gieger, Janina S Ried, Annette Peters, Isabel Fortier, Eco JC de Geus, Janis Klovins, Linda Zaharenko, Gonneke Willemsen, Jouke-Jan Hottenga, Jan-Eric Litton, Juha Karvanen, Dorret I Boomsma, Leif Groop, Johan Rung, Juni Palmgren, Nancy L Pedersen, Mark I McCarthy, Cornelia M van Duijn, Kristian Hveem, Andres Metspalu, Samuli Ripatti, Inga Prokopenko and Jennifer R Harris Eur J Hum Genet 2016 24: 521-528; advance online publication, August 26, 2015; 10.1038/ejhg.2015.165 Abstract | Full Text Mucolipidosis types II and III and non-syndromic stuttering are associated with different variants in the same genes M Hashim Raza, Carlos E F Domingues, Ronald Webster, Eduardo Sainz, Emily Paris, Rachel Rahn, Joanne Gutierrez, Ho Ming Chow, Jennifer Mundorff, Chang-soo Kang, Naveeda Riaz, Muhammad A R Basra, Shaheen Khan, Sheikh Riazuddin, Danilo Moretti-Ferreira, Allen Braun and Dennis Drayna Eur J Hum Genet 2016 24: 529-534; advance online publication, July 1, 2015; 10.1038/ejhg.2015.154 Abstract | Full Text Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and colobomaEJHGOPEN Brett Deml, Linda M Reis, Emmanuelle Lemyre, Robin D Clark, Ariana Kariminejad and Elena V Semina Eur J Hum Genet 2016 24: 535-541; advance online publication, July 1, 2015; 10.1038/ejhg.2015.155 Abstract | Full Text Novel and recurrent CIB2 variants, associated with nonsyndromic deafness, do not affect calcium buffering and localization in hair cells Celia Zazo Seco, Arnaud P Giese, Sobia Shafique, Margit Schraders, Anne M M Oonk, Mike Grossheim, Jaap Oostrik, Tim Strom, Rashmi Hegde, Erwin van Wijk, Gregory I Frolenkov, Maleeha Azam, Helger G Yntema, Rolien H Free, Saima Riazuddin, Joke B G M Verheij, Ronald J Admiraal, Raheel Qamar, Zubair M Ahmed and Hannie Kremer Eur J Hum Genet 2016 24: 542-549; advance online publication, July 15, 2015; 10.1038/ejhg.2015.157 Abstract | Full Text Whole-genome sequencing identifies a novel ABCB7 gene mutation for X-linked congenital cerebellar ataxia in a large family of Mongolian ancestry Maria S Protasova, Anastasia P Grigorenko, Tatiana V Tyazhelova, Tatiana V Andreeva, Denis A Reshetov, Fedor E Gusev, Alexander E Laptenko, Irina L Kuznetsova, Andrey Y Goltsov, Sergey A Klyushnikov, Sergey N Illarioshkin and Evgeny I Rogaev Eur J Hum Genet 2016 24: 550-555; advance online publication, August 5, 2015; 10.1038/ejhg.2015.139 Abstract | Full Text Loss-of-function variants in HIVEP2 are a cause of intellectual disability Siddharth Srivastava, Hartmut Engels, Ina Schanze, Kirsten Cremer, Thomas Wieland, Moritz Menzel, Max Schubach, Saskia Biskup, Martina Kreiß, Sabine Endele, Tim M Strom, Dagmar Wieczorek, Martin Zenker, Siddharth Gupta, Julie Cohen, Alexander M Zink and SakkuBai Naidu Eur J Hum Genet 2016 24: 556-561; advance online publication, July 8, 2015; 10.1038/ejhg.2015.151 Abstract | Full Text Ocular and neurodevelopmental features of Duchenne muscular dystrophy: a signature of dystrophin function in the central nervous system Valeria Ricotti, Herbert Jägle, Maria Theodorou, Anthony T Moore, Francesco Muntoni and Dorothy A Thompson Eur J Hum Genet 2016 24: 562-568; advance online publication, June 17, 2015; 10.1038/ejhg.2015.135 Abstract | Full Text Carney triad can be (rarely) associated with germline succinate dehydrogenase defects Sosipatros A Boikos, Paraskevi Xekouki, Elena Fumagalli, Fabio R Faucz, Margarita Raygada, Eva Szarek, Evan Ball, Su Young Kim, Markku Miettinen, Lee J Helman, J Aidan Carney, Karel Pacak and Constantine A Stratakis Eur J Hum Genet 2016 24: 569-573; advance online publication, July 15, 2015; 10.1038/ejhg.2015.142 Abstract | Full Text A recurrent copy number variation of the NEB triplicate region: only revealed by the targeted nemaline myopathy CGH array Kirsi Kiiski, Vilma-Lotta Lehtokari, Ari Löytynoja, Liina Ahlstén, Jenni Laitila, Carina Wallgren-Pettersson and Katarina Pelin Eur J Hum Genet 2016 24: 574-580; advance online publication, July 22, 2015; 10.1038/ejhg.2015.166 Abstract | Full Text Can whole-exome sequencing data be used for linkage analysis? Steven Gazal, Simon Gosset, Edgard Verdura, Françoise Bergametti, Stéphanie Guey, Marie-Claude Babron and Elisabeth Tournier-Lasserve Eur J Hum Genet 2016 24: 581-586; advance online publication, July 15, 2015; 10.1038/ejhg.2015.143 Abstract | Full Text Increased genetic risk for obesity in premature coronary artery diseaseEJHGOPEN Christopher B Cole, Majid Nikpay, Alexandre FR Stewart and Ruth McPherson Eur J Hum Genet 2016 24: 587-591; advance online publication, July 29, 2015; 10.1038/ejhg.2015.162 Abstract | Full Text Evaluation of transethnic fine mapping with population-specific and cosmopolitan imputation reference panels in diverse Asian populations Xu Wang, Ching-Yu Cheng, Jiemin Liao, Xueling Sim, Jianjun Liu, Kee-Seng Chia, E-Shyong Tai, Peter Little, Chiea-Chuen Khor, Tin Aung, Tien-Yin Wong and Yik-Ying Teo Eur J Hum Genet 2016 24: 592-599; advance online publication, July 1, 2015; 10.1038/ejhg.2015.150 Abstract | Full Text Shared language, diverging genetic histories: high-resolution analysis of Y-chromosome variability in Calabrian and Sicilian ArberesheEJHGOPEN Stefania Sarno, Sergio Tofanelli, Sara De Fanti, Andrea Quagliariello, Eugenio Bortolini, Gianmarco Ferri, Paolo Anagnostou, Francesca Brisighelli, Cristian Capelli, Giuseppe Tagarelli, Luca Sineo, Donata Luiselli, Alessio Boattini and Davide Pettener Eur J Hum Genet 2016 24: 600-606; advance online publication, July 1, 2015; 10.1038/ejhg.2015.138 Abstract | Full Text Short Reports Top Exome sequencing identifies recessive CDK5RAP2 variants in patients with isolated agenesis of corpus callosum Loubna Jouan, Bouchra Ouled Amar Bencheikh, Hussein Daoud, Alexandre Dionne-Laporte, Sylvia Dobrzeniecka, Dan Spiegelman, Daniel Rochefort, Pascale Hince, Anna Szuto, Maryse Lassonde, Marine Barbelanne, William Y Tsang, Patrick A Dion, Hugo Théoret and Guy A Rouleau Eur J Hum Genet 2016 24: 607-610; advance online publication, July 22, 2015; 10.1038/ejhg.2015.156 Abstract | Full Text Mosaic parental germline mutations causing recurrent forms of malformations of cortical development Julia Lauer Zillhardt, Karine Poirier, Loïc Broix, Nicolas Lebrun, Adrienne Elmorjani, Jelena Martinovic, Yoann Saillour, Giuseppe Muraca, Juliette Nectoux, Bettina Bessieres, Catherine Fallet-Bianco, Stanislas Lyonnet, Olivier Dulac, Sylvie Odent, Imen Rejeb, Lamia Ben Jemaa, Francois Rivier, Lucile Pinson, David Geneviève, Yuri Musizzano, Nicole Bigi, Nicolas Leboucq, Fabienne Giuliano, Nicole Philip, Catheline Vilain, Patrick Van Bogaert, Hélène Maurey, Cherif Beldjord, François Artiguenave, Anne Boland, Robert Olaso, Cécile Masson, Patrick Nitschké, Jean-François Deleuze, Nadia Bahi-Buisson and Jamel Chelly Eur J Hum Genet 2016 24: 611-614; advance online publication, September 23, 2015; 10.1038/ejhg.2015.192 Abstract | Full Text Early-onset epileptic encephalopathy as the initial clinical presentation of WDR45 deletion in a male patient Affef Abidi, Cécile Mignon-Ravix, Pierre Cacciagli, Nadine Girard, Mathieu Milh and Laurent Villard Eur J Hum Genet 2016 24: 615-618; advance online publication, July 15, 2015; 10.1038/ejhg.2015.159 Abstract | Full Text Pathogenic CWF19L1 variants as a novel cause of autosomal recessive cerebellar ataxia and atrophy Minh Nguyen, Iris Boesten, Debby M E I Hellebrekers, Jo Vanoevelen, Rick Kamps, Bart de Koning, Irenaeus F M de Coo, Mike Gerards and Hubert J M Smeets Eur J Hum Genet 2016 24: 619-622; advance online publication, July 22, 2015; 10.1038/ejhg.2015.158 Abstract | Full Text Book Reviews Top Inborn Errors of Metabolism: From Neonatal Screening to Metabolic Pathways Olga Amaral Eur J Hum Genet 2016 24: 623; 10.1038/ejhg.2015.145 Full Text Beyond Loss: Dementia, Identity, Personhood Annie M Procter Eur J Hum Genet 2016 24: 623-624; 10.1038/ejhg.2015.152 Full Text Natureevents is a fully searchable, multi-disciplinary database designed to maximise exposure for events organisers. 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