European Journal of Human Genetics - Table of Contents alert Volume 23 Issue 4

If you are unable to see the message below, click here to view.

TABLE OF CONTENTS Volume 23, Issue 4 (April 2015) In this issue Policy Review Articles Short Reports Clinical Utility Gene Card Updates Book Review Corrigenda Also new AOP Sign up for e-alerts Recommend to your library Web feed Subscribe Policy Top EMQN best practice guidelines for the molecular genetic testing and reporting of fragile X syndrome and other fragile X-associated disordersEJHGOPEN Valérie Biancalana, Dieter Glaeser, Shirley McQuaid and Peter Steinbach Eur J Hum Genet 2015 23: 417-425; advance online publication, September 17, 2014; 10.1038/ejhg.2014.185 Abstract | Full Text EMQN Best Practice Guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis of the haemoglobinopathiesEJHGOPEN Joanne Traeger-Synodinos, Cornelis L Harteveld, John M Old, Mary Petrou, Renzo Galanello, Piero Giordano, Michael Angastioniotis, Barbara De la Salle, Shirley Henderson and Alison May on behalf of contributors to the EMQN haemoglobinopathies best practice meeting Eur J Hum Genet 2015 23: 426-437; advance online publication, July 23, 2014; 10.1038/ejhg.2014.131 Abstract | Full Text European guidance for the molecular diagnosis of pseudohypoparathyroidism not caused by point genetic variants at GNAS: an EQA study Intza Garin, Giovanna Mantovani, Urko Aguirre, Anne Barlier, Bettina Brix, Francesca M Elli, Kathleen Freson, Virginie Grybek, Benedetta Izzi, Agnès Linglart, Guiomar Perez de Nanclares, Caroline Silve, Susanne Thiele and Ralf Werner on behalf of the EuroPHP Consortium Eur J Hum Genet 2015 23: 438-444; advance online publication, July 9, 2014; 10.1038/ejhg.2014.127 Abstract | Full Text Review Top Isolated dentinogenesis imperfecta and dentin dysplasia: revision of the classification Muriel de La Dure-Molla, Benjamin Philippe Fournier and Ariane Berdal Eur J Hum Genet 2015 23: 445-451; advance online publication, August 13, 2014; 10.1038/ejhg.2014.159 Abstract | Full Text Articles Top The role of the genetic counsellor: a systematic review of research evidence Heather Skirton, Christophe Cordier, Charlotta Ingvoldstad, Nicolas Taris and Caroline Benjamin Eur J Hum Genet 2015 23: 452-458; advance online publication, June 11, 2014; 10.1038/ejhg.2014.116 Abstract | Full Text Parents’ responses to receiving sickle cell or cystic fibrosis carrier results for their child following newborn screeningEJHGOPEN Fiona Ulph, Tim Cullinan, Nadeem Qureshi and Joe Kai Eur J Hum Genet 2015 23: 459-465; advance online publication, July 9, 2014; 10.1038/ejhg.2014.126 Abstract | Full Text An unexpected finding: younger fathers have a higher risk for offspring with chromosomal aneuploidies Bernhard Steiner, Rahim Masood, Kaspar Rufibach, Dunja Niedrist, Oliver Kundert, Mariluce Riegel and Albert Schinzel Eur J Hum Genet 2015 23: 466-472; advance online publication, July 9, 2014; 10.1038/ejhg.2014.122 Abstract | Full Text Homozygous missense variant in the human CNGA3 channel causes cone-rod dystrophy Rehan S Shaikh, Peggy Reuter, Robert A Sisk, Tasleem Kausar, Mohsin Shahzad, Muhammad I Maqsood, Ateeq Yousif, Muhammad Ali, Saima Riazuddin, Bernd Wissinger and Zubair M Ahmed Eur J Hum Genet 2015 23: 473-480; advance online publication, July 23, 2014; 10.1038/ejhg.2014.136 Abstract | Full Text Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect Vanessa L Romanelli Tavares, Christopher T Gordon, Roseli M Zechi-Ceide, Nancy Mizue Kokitsu-Nakata, Norine Voisin, Tiong Y Tan, Andrew A Heggie, Siulan Vendramini-Pittoli, Evan J Propst, Blake C Papsin, Tatiana T Torres, Henk Buermans, Luciane Portas Capelo, Johan T den Dunnen, Maria L Guion-Almeida, Stanislas Lyonnet, Jeanne Amiel and Maria Rita Passos-Bueno Eur J Hum Genet 2015 23: 481-485; advance online publication, July 16, 2014; 10.1038/ejhg.2014.132 Abstract | Full Text Whole exome sequencing combined with linkage analysis identifies a novel 3 bp deletion in NR5A1EJHGOPEN Stefanie Eggers, Katherine R Smith, Melanie Bahlo, Leendert HJ Looijenga, Stenvert LS Drop, Zulfa A Juniarto, Vincent R Harley, Peter Koopman, Sultana MH Faradz and Andrew H Sinclair Eur J Hum Genet 2015 23: 486-493; advance online publication, August 6, 2014; 10.1038/ejhg.2014.130 Abstract | Full Text Very small deletions within the NESP55 gene in pseudohypoparathyroidism type 1bEJHGOPEN Faisal I Rezwan, Rebecca L Poole, Trine Prescott, Joanna M Walker, I Karen Temple and Deborah JG Mackay Eur J Hum Genet 2015 23: 494-499; advance online publication, July 9, 2014; 10.1038/ejhg.2014.133 Abstract | Full Text Functional correction by antisense therapy of a splicing mutation in the GALT gene Ana I Coelho, Sílvia Lourenço, Matilde Trabuco, Maria João Silva, Anabela Oliveira, Ana Gaspar, Luísa Diogo, Isabel Tavares de Almeida, João B Vicente and Isabel Rivera Eur J Hum Genet 2015 23: 500-506; advance online publication, July 23, 2014; 10.1038/ejhg.2014.149 Abstract | Full Text Pathway analysis with next-generation sequencing data Jinying Zhao, Yun Zhu, Eric Boerwinkle and Momiao Xiong Eur J Hum Genet 2015 23: 507-515; advance online publication, July 2, 2014; 10.1038/ejhg.2014.121 Abstract | Full Text Fine mapping analysis confirms and strengthens linkage of four chromosomal regions in familial hypospadias Cilla Söderhäll, Izabella Baranowska Körberg, Hanh T T Thai, Jia Cao, Yougen Chen, Xufeng Zhang, Zu Shulu, Loes F M van der Zanden, Iris A L M van Rooij, Louise Frisén, Nel Roeleveld, Ellen Markljung, Ingrid Kockum and Agneta Nordenskjöld Eur J Hum Genet 2015 23: 516-522; advance online publication, July 2, 2014; 10.1038/ejhg.2014.129 Abstract | Full Text Phenome-wide association studies (PheWASs) for functional variants Zhan Ye, John Mayer, Lynn Ivacic, Zhiyi Zhou, Min He, Steven J Schrodi, David Page, Murray H Brilliant and Scott J Hebbring Eur J Hum Genet 2015 23: 523-529; advance online publication, July 30, 2014; 10.1038/ejhg.2014.123 Abstract | Full Text Evaluation of European coeliac disease risk variants in a north Indian populationEJHGOPEN Sabyasachi Senapati, Javier Gutierrez-Achury, Ajit Sood, Vandana Midha, Agata Szperl, Jihane Romanos, Alexandra Zhernakova, Lude Franke, Santos Alonso, B K Thelma, Cisca Wijmenga and Gosia Trynka Eur J Hum Genet 2015 23: 530-535; advance online publication, July 23, 2014; 10.1038/ejhg.2014.137 Abstract | Full Text Copy number variations and genetic admixtures in three Xinjiang ethnic minority groups Haiyi Lou, Shilin Li, Wenfei Jin, Ruiqing Fu, Dongsheng Lu, Xinwei Pan, Huaigu Zhou, Yuan Ping, Li Jin and Shuhua Xu Eur J Hum Genet 2015 23: 536-542; advance online publication, July 16, 2014; 10.1038/ejhg.2014.134 Abstract | Full Text Short Reports Top A recurrent deletion syndrome at chromosome bands 2p11.2-2p12 flanked by segmental duplications at the breakpoints and including REEP1 Servi J C Stevens, Eveline W Blom, Ingrid T J Siegelaer and Eric E J G L Smeets Eur J Hum Genet 2015 23: 543-546; advance online publication, July 2, 2014; 10.1038/ejhg.2014.124 Abstract | Full Text Using whole-exome sequencing to identify variants inherited from mosaic parents Jonathan J Rios and Mauricio R Delgado Eur J Hum Genet 2015 23: 547-550; advance online publication, July 2, 2014; 10.1038/ejhg.2014.125 Abstract | Full Text Expanding the phenotypic spectrum of PORCN variants in two males with syndromic microphthalmia Paul D Brady, Hilde Van Esch, Nathalie Fieremans, Guy Froyen, Anne Slavotinek, Jan Deprest, Koenraad Devriendt and Joris R Vermeesch Eur J Hum Genet 2015 23: 551-554; advance online publication, July 16, 2014; 10.1038/ejhg.2014.135 Abstract | Full Text No evidence for rare recessive and compound heterozygous disruptive variants in schizophrenia Douglas M Ruderfer, Elaine T Lim, Giulio Genovese, Jennifer L Moran, Christina M Hultman, Patrick F Sullivan, Steven A McCarroll, Peter Holmans, Pamela Sklar and Shaun M Purcell Eur J Hum Genet 2015 23: 555-557; advance online publication, November 5, 2014; 10.1038/ejhg.2014.228 Abstract | Full Text Clinical Utility Gene Card Updates Top Clinical utility gene card for: Dyskeratosis congenita – update 2015 Inderjeet Dokal, Tom Vulliamy, Philip Mason and Monica Bessler Eur J Hum Genet 2015 23: ; advance online publication, September 3, 2014; 10.1038/ejhg.2014.170 Full Text Clinical utility gene card for: Aarskog–Scott Syndrome (faciogenital dysplasia) – update 2015 Alfredo Orrico, Lucia Galli, Jill Clayton-Smith and Jean-Pierre Fryns Eur J Hum Genet 2015 23: ; advance online publication, September 17, 2014; 10.1038/ejhg.2014.178 Full Text Book Review Top Genetic Heterogeneity and Human Disease Alessandra Ferlini and Sergio Fini Eur J Hum Genet 2015 23: 559; 10.1038/ejhg.2015.2 Full Text Corrigenda Top EMQN Best Practice Guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis of the haemoglobinopathies Joanne Traeger-Synodinos, Cornelis L Harteveld, John M Old, Mary Petrou, Renzo Galanello, Piero Giordano, Michael Angastioniotis, Barbara De la Salle, Shirley Henderson and Alison May on behalf of contributors to the EMQN haemoglobinopathies best practice meeting Eur J Hum Genet 2015 23: 560; 10.1038/ejhg.2015.39 Full Text European guidance for the molecular diagnosis of pseudohypoparathyroidism not caused by point genetic variants at GNAS: an EQA study Intza Garin, Giovanna Mantovani, Urko Aguirre, Anne Barlier, Bettina Brix, Francesca M Elli, Kathleen Freson, Virginie Grybek, Benedetta Izzi, Agne's Linglart, Guiomar Perez de Nanclares, Caroline Silve, Susanne Thiele and Ralf Werner on behalf of the EuroPHP Consortium Eur J Hum Genet 2015 23: 560; 10.1038/ejhg.2015.40 Full Text Natureevents is a fully searchable, multi-disciplinary database designed to maximise exposure for events organisers. The contents of the Natureevents Directory are now live. The digital version is available here. Find the latest scientific conferences, courses, meetings and symposia on natureevents.com. For event advertising opportunities across the Nature Publishing Group portfolio please contact natureevents@nature.com More Nature Events Please note that you need to be a subscriber or site-licence holder to enjoy full-text access to European Journal of Human Genetics. In order to do so, please purchase a subscription. You have been sent this Table of Contents Alert because you have opted in to receive it. You can change or discontinue your e-mail alerts at any time, by modifying your preferences on your nature.com account at: www.nature.com/nams/svc/myaccount (You will need to log in to be recognised as a nature.com registrant). For further technical assistance, please contact our registration department. For print subscription enquiries, please contact our subscription department. For other enquiries, please contact our customer feedback department. Nature Publishing Group | 75 Varick Street, 9th Floor | New York | NY 10013-1917 | USA Nature Publishing Group's worldwide offices: London - Paris - Munich - New Delhi - Tokyo - Melbourne San Diego - San Francisco - Washington - New York - Boston Macmillan Publishers Limited is a company incorporated in England and Wales under company number 785998 and whose registered office is located at Brunel Road, Houndmills, Basingstoke, Hampshire RG21 6XS. © 2015 Nature Publishing Group, a division of Macmillan Publishers Limited. All Rights Reserved.