European Journal of Human Genetics - Table of Contents alert Volume 23 Issue 6

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TABLE OF CONTENTS Volume 23, Issue 6 (June 2015) In this issue Policy Viewpoint Articles Short Reports Clinical Utility Gene Cards Clinical Utility Gene Cards Updates Also new AOP Sign up for e-alerts Recommend to your library Web feed Subscribe Advertisement Nature Publishing Group will be exhibiting at the forthcoming European Human Genetics Conference in Glasgow, UK from 6-9 June 2015. Visit the NPG stand for free journal copies, giveaways and more! Policy Top International Charter of principles for sharing bio-specimens and dataEJHGOPEN Deborah Mascalzoni, Edward S Dove, Yaffa Rubinstein, Hugh J S Dawkins, Anna Kole, Pauline McCormack, Simon Woods, Olaf Riess, Franz Schaefer, Hanns Lochmüller, Bartha M Knoppers and Mats Hansson Eur J Hum Genet 2015 23: 721-728; advance online publication, September 24, 2014; 10.1038/ejhg.2014.197 Abstract | Full Text Points to consider for prioritizing clinical genetic testing services: a European consensus process oriented at accountability for reasonablenessEJHGOPEN Franziska Severin, Pascal Borry, Martina C Cornel, Norman Daniels, Florence Fellmann, Shirley Victoria Hodgson, Heidi C Howard, Jürgen John, Helena Kääriäinen, Hülya Kayserili, Alastair Kent, Florian Koerber, Ulf Kristoffersson, Mark Kroese, Celine Lewis, Georg Marckmann, Peter Meyer, Arne Pfeufer, Jörg Schmidtke, Heather Skirton, Lisbeth Tranebjærg and Wolf H Rogowski for the EuroGentest and ESHG/PPPC Priority Consortium Eur J Hum Genet 2015 23: 729-735; advance online publication, September 24, 2014; 10.1038/ejhg.2014.190 Abstract | Full Text Viewpoint Top Rethinking biobanking and translational medicine in the Netherlands: how the research process stands to matter for patient care Conor MW Douglas and Philip Scheltens Eur J Hum Genet 2015 23: 736-738; advance online publication, September 17, 2014; 10.1038/ejhg.2014.186 Abstract | Full Text Articles Top A systematic review of factors that act as barriers to patient referral to genetic services Türem Delikurt, Graham R Williamson, Violetta Anastasiadou and Heather Skirton Eur J Hum Genet 2015 23: 739-745; advance online publication, September 10, 2014; 10.1038/ejhg.2014.180 Abstract | Full Text Meckel–Gruber Syndrome: a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europe Ingeborg Barisic, Ljubica Boban, Maria Loane, Ester Garne, Diana Wellesley, Elisa Calzolari, Helen Dolk, Marie-Claude Addor, Jorieke EH Bergman, Paula Braz, Elizabeth S Draper, Martin Haeusler, Babak Khoshnood, Kari Klungsoyr, Anna Pierini, Annette Queisser-Luft, Judith Rankin, Anke Rissmann and Christine Verellen-Dumoulin Eur J Hum Genet 2015 23: 746-752; advance online publication, September 3, 2014; 10.1038/ejhg.2014.174 Abstract | Full Text Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome Alma Kuechler, Alexander M Zink, Thomas Wieland, Hermann-Josef Lüdecke, Kirsten Cremer, Leonardo Salviati, Pamela Magini, Kimia Najafi, Christiane Zweier, Johanna Christina Czeschik, Stefan Aretz, Sabine Endele, Federica Tamburrino, Claudia Pinato, Maurizio Clementi, Jasmin Gundlach, Carina Maylahn, Laura Mazzanti, Eva Wohlleber, Thomas Schwarzmayr, Roxana Kariminejad, Avner Schlessinger, Dagmar Wieczorek, Tim M Strom, Gaia Novarino and Hartmut Engels Eur J Hum Genet 2015 23: 753-760; advance online publication, August 20, 2014; 10.1038/ejhg.2014.165 Abstract | Full Text Five children with deletions of 1p34.3 encompassing AGO1 and AGO3 Mari J Tokita, Penny M Chow, Ghayda Mirzaa, Nicola Dikow, Bianca Maas, Bertrand Isidor, Cédric Le Caignec, Lynette S Penney, Giovanni Mazzotta, Laura Bernardini, Tiziana Filippi, Agatino Battaglia, Emilio Donti, Dawn Earl and Paolo Prontera Eur J Hum Genet 2015 23: 761-765; advance online publication, October 1, 2014; 10.1038/ejhg.2014.202 Abstract | Full Text The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy Michela Robusto, Mingyan Fang, Rosanna Asselta, Pierangela Castorina, Stefano C Previtali, Sonia Caccia, Elena Benzoni, Raimondo De Cristofaro, Cong Yu, Antonio Cesarani, Xuanzhu Liu, Wangsheng Li, Paola Primignani, Umberto Ambrosetti, Xun Xu, Stefano Duga and Giulia Soldà Eur J Hum Genet 2015 23: 766-773; advance online publication, September 3, 2014; 10.1038/ejhg.2014.168 Abstract | Full Text The role of GTF2IRD1 in the auditory pathology of Williams–Beuren Syndrome Cesar P Canales, Ann C Y Wong, Peter W Gunning, Gary D Housley, Edna C Hardeman and Stephen J Palmer Eur J Hum Genet 2015 23: 774-780; advance online publication, September 24, 2014; 10.1038/ejhg.2014.188 Abstract | Full Text MBD5 haploinsufficiency is associated with sleep disturbance and disrupts circadian pathways common to Smith–Magenis and fragile X syndromes Sureni V Mullegama, Loren Pugliesi, Brooke Burns, Zalak Shah, Raiha Tahir, Yanghong Gu, David L Nelson and Sarah H Elsea Eur J Hum Genet 2015 23: 781-789; advance online publication, October 1, 2014; 10.1038/ejhg.2014.200 Abstract | Full Text Functional analysis of four LDLR 5′UTR and promoter variants in patients with familial hypercholesterolaemiaEJHGOPEN Amna Khamis, Jutta Palmen, Nick Lench, Alison Taylor, Ebele Badmus, Sarah Leigh and Steve E Humphries Eur J Hum Genet 2015 23: 790-795; advance online publication, September 24, 2014; 10.1038/ejhg.2014.199 Abstract | Full Text Vascular Ehlers–Danlos Syndrome in siblings with biallelic COL3A1 sequence variants and marked clinical variability in the extended familyEJHGOPEN Agnete Jørgensen, Toril Fagerheim, Svend Rand-Hendriksen, Per I Lunde, Torgrim O Vorren, Melanie G Pepin, Dru F Leistritz and Peter H Byers Eur J Hum Genet 2015 23: 796-802; advance online publication, September 10, 2014; 10.1038/ejhg.2014.181 Abstract | Full Text Two male adults with pathogenic AUTS2 variants, including a two-base pair deletion, further delineate the AUTS2 syndrome Gea Beunders, Sonja A de Munnik, Nathalie Van der Aa, Berten Ceulemans, Els Voorhoeve, Alexander J Groffen, Willy M Nillesen, Elizabeth J Meijers-Heijboer, R Frank Kooy, Helger G Yntema and Erik A Sistermans Eur J Hum Genet 2015 23: 803-807; advance online publication, September 10, 2014; 10.1038/ejhg.2014.173 Abstract | Full Text Diagnostic approach for FSHD revisited: SMCHD1 mutations cause FSHD2 and act as modifiers of disease severity in FSHD1 Mirjam Larsen, Simone Rost, Nady El Hajj, Andreas Ferbert, Marcus Deschauer, Maggie C Walter, Benedikt Schoser, Pawel Tacik, Wolfram Kress and Clemens R Müller Eur J Hum Genet 2015 23: 808-816; advance online publication, November 5, 2014; 10.1038/ejhg.2014.191 Abstract | Full Text Folate-related polymorphisms in gastrointestinal stromal tumours: susceptibility and correlation with tumour characteristics and clinical outcome Sabrina Angelini, Gloria Ravegnini, Margherita Nannini, Justo Lorenzo Bermejo, Muriel Musti, Maria A Pantaleo, Elena Fumagalli, Nicola Venturoli, Elena Palassini, Nicola Consolini, Paolo G Casali, Guido Biasco and Patrizia Hrelia Eur J Hum Genet 2015 23: 817-823; advance online publication, September 17, 2014; 10.1038/ejhg.2014.198 Abstract | Full Text Heritability estimates on Hodgkin’s lymphoma: a genomic- versus population-based approach Hauke Thomsen, Miguel Inacio da Silva Filho, Asta Försti, Michael Fuchs, Sabine Ponader, Elke Pogge von Strandmann, Lewin Eisele, Stefan Herms, Per Hofmann, Jan Sundquist, Andreas Engert and Kari Hemminki Eur J Hum Genet 2015 23: 824-830; advance online publication, September 17, 2014; 10.1038/ejhg.2014.184 Abstract | Full Text Fine-scale human genetic structure in Western France Matilde Karakachoff, Nicolas Duforet-Frebourg, Floriane Simonet, Solena Le Scouarnec, Nadine Pellen, Simon Lecointe, Eric Charpentier, Françoise Gros, Stéphane Cauchi, Philippe Froguel, Nane Copin, the D.E.S.I.R. Study Group, Thierry Le Tourneau, Vincent Probst, Hervé Le Marec, Sabrina Molinaro, Beverley Balkau, Richard Redon, Jean-Jacques Schott, Michael GB Blum and Christian Dina Eur J Hum Genet 2015 23: 831-836; advance online publication, September 3, 2014; 10.1038/ejhg.2014.175 Abstract | Full Text The dystrophin gene and cognitive function in the general population Dina Vojinovic, Hieab HH Adams, Sven J van der Lee, Carla A Ibrahim-Verbaas, Rutger Brouwer, Mirjam CGN van den Hout, Edwin Oole, Jeroen van Rooij, Andre Uitterlinden, Albert Hofman, Wilfred FJ van IJcken, Annemieke Aartsma-Rus, GertJan B van Ommen, M Arfan Ikram, Cornelia M van Duijn and Najaf Amin Eur J Hum Genet 2015 23: 837-843; advance online publication, September 17, 2014; 10.1038/ejhg.2014.183 Abstract | Full Text Fine mapping of eight psoriasis susceptibility loci Sayantan Das, Philip E Stuart, Jun Ding, Trilokraj Tejasvi, Yanming Li, Lam C Tsoi, Vinod Chandran, Judith Fischer, Cynthia Helms, Kristina Callis Duffin, John J Voorhees, Anne M Bowcock, Gerald G Krueger, G Mark Lathrop, Rajan P Nair, Proton Rahman, Goncalo R Abecasis, Dafna Gladman and James T Elder Eur J Hum Genet 2015 23: 844-853; advance online publication, September 3, 2014; 10.1038/ejhg.2014.172 Abstract | Full Text Gene by stress genome-wide interaction analysis and path analysis identify EBF1 as a cardiovascular and metabolic risk gene Abanish Singh, Michael A Babyak, Daniel K Nolan, Beverly H Brummett, Rong Jiang, Ilene C Siegler, William E Kraus, Svati H Shah, Redford B Williams and Elizabeth R Hauser Eur J Hum Genet 2015 23: 854-862; advance online publication, October 1, 2014; 10.1038/ejhg.2014.189 Abstract | Full Text Homogeneous case subgroups increase power in genetic association studies Matthew Traylor, Hugh Markus and Cathryn M Lewis Eur J Hum Genet 2015 23: 863-869; advance online publication, October 1, 2014; 10.1038/ejhg.2014.194 Abstract | Full Text Short Reports Top Somatic neurofibromatosis type 1 (NF1) inactivation events in cutaneous neurofibromas of a single NF1 patient Denise Emmerich, Tomasz Zemojtel, Jochen Hecht, Peter Krawitz, Malte Spielmann, Jirko Kühnisch, Karolina Kobus, Monika Osswald, Verena Heinrich, Peter Berlien, Ute Müller, Victor-F Mautner, Katharina Wimmer, Peter N Robinson, Martin Vingron, Sigrid Tinschert, Stefan Mundlos and Mateusz Kolanczyk Eur J Hum Genet 2015 23: 870-873; advance online publication, October 8, 2014; 10.1038/ejhg.2014.210 Abstract | Full Text A MYLK variant regulates asthmatic inflammation via alterations in mRNA secondary structureEJHGOPEN Ting Wang, Tong Zhou, Laleh Saadat and Joe GN Garcia Eur J Hum Genet 2015 23: 874-876; advance online publication, October 1, 2014; 10.1038/ejhg.2014.201 Abstract | Full Text Low frequency of TERT promoter mutations in gastrointestinal stromal tumors (GISTs) Nathália C Campanella, Ricardo Celestino, Ana Pestana, Cristovam Scapulatempo-Neto, Antonio Talvane de Oliveira, Maria José Brito, António Gouveia, José Manuel Lopes, Denise Peixoto Guimarães, Paula Soares and Rui M Reis Eur J Hum Genet 2015 23: 877-879; advance online publication, September 24, 2014; 10.1038/ejhg.2014.195 Abstract | Full Text Unusual clinical expression and long survival of a pseudouridylate synthase (PUS1) mutation into adulthood Metodi D Metodiev, Zahra Assouline, Pierre Landrieu, Dominique Chretien, Brigitte Bader-Meunier, Corinne Guitton, Arnold Munnich and Agnès Rötig Eur J Hum Genet 2015 23: 880-882; advance online publication, September 17, 2014; 10.1038/ejhg.2014.192 Abstract | Full Text Recessive ACTA1 variant causes congenital muscular dystrophy with rigid spine Gina L O'Grady, Heather A Best, Emily C Oates, Simranpreet Kaur, Amanda Charlton, Susan Brammah, Jaya Punetha, Akanchha Kesari, Kathryn N North, Biljana Ilkovski, Eric P Hoffman and Nigel F Clarke Eur J Hum Genet 2015 23: 883-886; advance online publication, September 3, 2014; 10.1038/ejhg.2014.169 Abstract | Full Text VPS35 and DNAJC13 disease-causing variants in essential tremor Alex Rajput, Jay P Ross, Cecily Q Bernales, Sruti Rayaprolu, Alexandra I Soto-Ortolaza, Owen A Ross, Jay van Gerpen, Ryan J Uitti, Zbigniew K Wszolek, Ali H Rajput and Carles Vilariño-Güell Eur J Hum Genet 2015 23: 887-888; advance online publication, August 13, 2014; 10.1038/ejhg.2014.164 Abstract | Full Text Clinical Utility Gene Cards Top Clinical utility gene card for: X-linked immunodeficiency with magnesium defect, Epstein–Barr virus infection, and neoplasia (XMEN) Feng-Yen Li, Benjamin Chaigne-Delalande, V Koneti Rao, Yu Zhang, Helen Matthews, Taco (TW) Kuijpers, Helen Su, Gulbu Uzel and Michael J Lenardo Eur J Hum Genet 2015 23: ; advance online publication, September 10, 2014; 10.1038/ejhg.2014.179 Full Text Clinical utility gene card for: Lowe syndrome Arend Bökenkamp, Elena Levtchenko, Florian Recker and Michael Ludwig Eur J Hum Genet 2015 23: ; advance online publication, September 3, 2014; 10.1038/ejhg.2014.177 Full Text Clinical utility gene card for: familial hypomagnesemia with hypercalciuria and nephrocalcinosis with/without severe ocular involvement Félix Claverie-Martín, Rosa Vargas-Poussou, Dominik Müller and Víctor García-Nieto Eur J Hum Genet 2015 23: ; advance online publication, September 3, 2014; 10.1038/ejhg.2014.176 Full Text Clinical Utility Gene Cards Updates Top Clinical utility gene card for: Abetalipoproteinaemia – Update 2014 John R Burnett, Damon A Bell, Amanda J Hooper and Robert A Hegele Eur J Hum Genet 2015 23: ; advance online publication, October 22, 2014; 10.1038/ejhg.2014.224 Full Text Clinical utility gene card for: Familial hypobetalipoproteinaemia (APOB) – Update 2014 John R Burnett, Damon A Bell, Amanda J Hooper and Robert A Hegele Eur J Hum Genet 2015 23: ; advance online publication, October 22, 2014; 10.1038/ejhg.2014.225 Full Text Clinical Utility Gene Card for: Familial adenomatous polyposis (FAP) and attenuated FAP (AFAP) - update 2014 Stefan Aretz, Hans FA Vasen and Sylviane Olschwang Eur J Hum Genet 2015 23: ; advance online publication, September 24, 2014; 10.1038/ejhg.2014.193 Full Text Clinical utility gene card for: Werner Syndrome - Update 2014 Fuki M Hisama, Christian Kubisch, George M Martin and Junko Oshima Eur J Hum Genet 2015 23: ; advance online publication, September 3, 2014; 10.1038/ejhg.2014.171 Full Text Natureevents is a fully searchable, multi-disciplinary database designed to maximise exposure for events organisers. 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