European Journal of Human Genetics - Table of Contents alert Volume 21 Issue 10

Advertisement Circulation: Cardiovascular Genetics is the #1 journal dedicated to cardiovascular genetics, genomics, and systems biology. Join an esteemed roster of your peers - submit your manuscript for publication in Circulation: Cardiovascular Genetics today. Visit the journal's Information for Authors to learn about preferred article types and how to submit. TABLE OF CONTENTS Volume 21, Issue 10 (October 2013) In this issue Articles Short Reports Clinical Utility Gene Cards Clinical Utility Gene Cards Updates Corrigendum Also new AOP Sign up for e-alerts Recommend to your library Web feed Subscribe Advertisement Thank you to everyone who attended our 'How to get published' session earlier this year at ESHG in Paris. For those who didn't make it, please see our booklet which we hope will help with the whole process of publishing.  We hope you will consider submitting your best research to EJHG!  Articles Top Benefits and drawbacks of preimplantation genetic diagnosis (PGD) for reciprocal translocations: lessons from a prospective cohort study Paul N Scriven, Frances A Flinter, Yakoub Khalaf, Alison Lashwood and Caroline Mackie Ogilvie Eur J Hum Genet 2013 21: 1035-1041; advance online publication, February 6, 2013; 10.1038/ejhg.2013.9 Abstract | Full Text The personal experience of parenting a child with Juvenile Huntington’s Disease: perceptions across Europe Virginia Eatough, Helen Santini, Christine Eiser, Marie-Louise Goller, Wioletta Krysa, ‘Annunziata’ de Nicola, Matteo Paduanello, Martina Petrollini, Maria Rakowicz, Ferdinando Squitieri, Aad Tibben, Katie Lee Weille, Bernhard Landwehrmeyer, Oliver Quarrell and Jonathan A Smith Eur J Hum Genet 2013 21: 1042-1048; advance online publication, February 27, 2013; 10.1038/ejhg.2013.15 Abstract | Full Text Newborn bloodspot screening for Duchenne Muscular Dystrophy: 21 years experience in Wales (UK) Stuart J Moat, Donald M Bradley, Rachel Salmon, Angus Clarke and Louise Hartley Eur J Hum Genet 2013 21: 1049-1053; advance online publication, January 23, 2013; 10.1038/ejhg.2012.301 Abstract | Full Text Informed consent for whole-genome sequencing studies in the clinical setting. Proposed recommendations on essential content and process Carmen Ayuso, José M Millán, Marta Mancheño and Rafael Dal-Ré Eur J Hum Genet 2013 21: 1054-1059; advance online publication, January 16, 2013; 10.1038/ejhg.2012.297 Abstract | Full Text A Delphi study to determine the European core curriculum for Master programmes in genetic counselling Heather Skirton, Sivia Barnoy, Charlotta Ingvoldstad, Ingrid van Kessel, Christine Patch, Anita O'Connor, Clara Serra-Juhe, Barbara Stayner and Marie-Antoinette Voelckel Eur J Hum Genet 2013 21: 1060-1066; advance online publication, January 23, 2013; 10.1038/ejhg.2012.302 Abstract | Full Text Novel allelic variants and evidence for a prevalent mutation in URAT1 causing renal hypouricemia: biochemical, genetics and functional analysis Blanka Stiburkova, Ivan Sebesta, Kimiyoshi Ichida, Makiko Nakamura, Helena Hulkova, Vladimir Krylov, Lenka Kryspinova and Helena Jahnova Eur J Hum Genet 2013 21: 1067-1073; advance online publication, February 6, 2013; 10.1038/ejhg.2013.3 Abstract | Full Text Phenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders Lorena Travaglini, Francesco Brancati, Jennifer Silhavy, Miriam Iannicelli, Elizabeth Nickerson, Nadia Elkhartoufi, Eric Scott, Emily Spencer, Stacey Gabriel, Sophie Thomas, Bruria Ben-Zeev, Enrico Bertini, Eugen Boltshauser, Malika Chaouch, Maria Roberta Cilio, Mirjam M de Jong, Hulya Kayserili, Gonul Ogur, Andrea Poretti, Sabrina Signorini, Graziella Uziel, Maha S Zaki, the International JSRD Study Group, Colin Johnson, Tania Attié-Bitach, Joseph G Gleeson and Enza Maria Valente Eur J Hum Genet 2013 21: 1074-1078; advance online publication, February 6, 2013; 10.1038/ejhg.2012.305 Abstract | Full Text Functional and genetic characterization of two extremely rare cases of Williams–Beuren Syndrome associated with chronic granulomatous disease Marie J Stasia, Michèle Mollin, Cécile Martel, Véronique Satre, Charles Coutton, Florence Amblard, Gaëlle Vieville, Joris M van Montfrans, Jaap J Boelens, Hermine E Veenstra-Knol, Karen van Leeuwen, Martin de Boer, Jean-Paul Brion and Dirk Roos Eur J Hum Genet 2013 21: 1079-1084; advance online publication, January 23, 2013; 10.1038/ejhg.2012.310 Abstract | Full Text Molecular and clinical delineation of the 17q22 microdeletion phenotype Tobias Laurell, Johanna Lundin, Britt-Marie Anderlid, Jerome L Gorski, Giedre Grigelioniene, Samantha J L Knight, Ana C V Krepischi, Agneta Nordenskjöld, Susan M Price, Carla Rosenberg, Peter D Turnpenny, Angela M Vianna-Morgante and Ann Nordgren Eur J Hum Genet 2013 21: 1085-1092; advance online publication, January 30, 2013; 10.1038/ejhg.2012.306 Abstract | Full Text Genome-wide gene expression in a patient with 15q13.3 homozygous microdeletion syndrome Jean-Baptiste Le Pichon, Shihui Yu, Nataliya Kibiryeva, William D Graf and Douglas C Bittel Eur J Hum Genet 2013 21: 1093-1099; advance online publication, January 30, 2013; 10.1038/ejhg.2013.1 Abstract | Full Text Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability Reza Asadollahi, Beatrice Oneda, Frenny Sheth, Silvia Azzarello-Burri, Rosa Baldinger, Pascal Joset, Beatrice Latal, Walter Knirsch, Soaham Desai, Alessandra Baumer, Gunnar Houge, Joris Andrieux and Anita Rauch Eur J Hum Genet 2013 21: 1100-1104; advance online publication, February 13, 2013; 10.1038/ejhg.2013.17 Abstract | Full Text Doubly heterozygous LMNA and TTN mutations revealed by exome sequencing in a severe form of dilated cardiomyopathy Roberta Roncarati, Chiara Viviani Anselmi, Peter Krawitz, Giovanna Lattanzi, Yskert von Kodolitsch, Andreas Perrot, Elisa di Pasquale, Laura Papa, Paola Portararo, Marta Columbaro, Alberto Forni, Giuseppe Faggian, Gianluigi Condorelli and Peter N Robinson Eur J Hum Genet 2013 21: 1105-1111; advance online publication, March 6, 2013; 10.1038/ejhg.2013.16 Abstract | Full Text Identification of a novel in-frame deletion in KCNQ4 (DFNA2A) and evidence of multiple phenocopies of unknown origin in a family with ADSNHL Nelly Abdelfatah, David A McComiskey, Lance Doucette, Anne Griffin, Susan J Moore, Carol Negrijn, Kathy A Hodgkinson, Justin J King, Mani Larijani, Jim Houston, Susan G Stanton and Terry-Lynn Young Eur J Hum Genet 2013 21: 1112-1119; advance online publication, February 27, 2013; 10.1038/ejhg.2013.5 Abstract | Full Text Huntington disease in the South African population occurs on diverse and ethnically distinct genetic haplotypes Fiona K Baine, Chris Kay, Maria E Ketelaar, Jennifer A Collins, Alicia Semaka, Crystal N Doty, Amanda Krause, L Jacquie Greenberg and Michael R Hayden Eur J Hum Genet 2013 21: 1120-1127; advance online publication, March 6, 2013; 10.1038/ejhg.2013.2 Abstract | Full Text A global map for dissecting phenotypic variants in human lincRNAs Shangwei Ning, Peng Wang, Jingrun Ye, Xiang Li, Ronghong Li, Zuxianglan Zhao, Xiao Huo, Li Wang, Feng Li and Xia Li Eur J Hum Genet 2013 21: 1128-1133; advance online publication, March 6, 2013; 10.1038/ejhg.2013.7 Abstract | Full Text The influence of clan structure on the genetic variation in a single Ghanaian villageEJHGOPEN Hernando Sanchez-Faddeev, Jeroen Pijpe, Tom van der Hulle, Hans J Meij, Kristiaan J van der Gaag, P Eline Slagboom, Rudi G J Westendorp and Peter de Knijff Eur J Hum Genet 2013 21: 1134-1139; advance online publication, February 27, 2013; 10.1038/ejhg.2013.12 Abstract | Full Text Inference of identity by descent in population isolates and optimal sequencing studies Dominik Glodzik, Pau Navarro, Veronique Vitart, Caroline Hayward, Ruth McQuillan, Sarah H Wild, Malcolm G Dunlop, Igor Rudan, Harry Campbell, Chris Haley, Alan F Wright, James F Wilson and Paul McKeigue Eur J Hum Genet 2013 21: 1140-1145; advance online publication, January 30, 2013; 10.1038/ejhg.2012.307 Abstract | Full Text Positive selection of protective variants for type 2 diabetes from the Neolithic onward: a case study in Central Asia Laure Ségurel, Frederic Austerlitz, Bruno Toupance, Mathieu Gautier, Joanna L Kelley, Patrick Pasquet, Christine Lonjou, Myriam Georges, Sarah Voisin, Corinne Cruaud, Arnaud Couloux, Tatyana Hegay, Almaz Aldashev, Renaud Vitalis and Evelyne Heyer Eur J Hum Genet 2013 21: 1146-1151; advance online publication, January 23, 2013; 10.1038/ejhg.2012.295 Abstract | Full Text Influence of TIMP3/SYN3 polymorphisms on the phenotypic presentation of age-related macular degeneration Daniel Ardeljan, Catherine B Meyerle, Elvira Agron, Jie Jin Wang, Paul Mitchell, Emily Y Chew, Jing Zhao, Arvydas Maminishkis, Chi-Chao Chan and Jingsheng Tuo Eur J Hum Genet 2013 21: 1152-1157; advance online publication, February 20, 2013; 10.1038/ejhg.2013.14 Abstract | Full Text Family-based association tests for sequence data, and comparisons with population-based association tests Iuliana Ionita-Laza, Seunggeun Lee, Vladimir Makarov, Joseph D Buxbaum and Xihong Lin Eur J Hum Genet 2013 21: 1158-1162; advance online publication, February 6, 2013; 10.1038/ejhg.2012.308 Abstract | Full Text Meta-analysis of telomere length in 19 713 subjects reveals high heritability, stronger maternal inheritance and a paternal age effect Linda Broer, Veryan Codd, Dale R Nyholt, Joris Deelen, Massimo Mangino, Gonneke Willemsen, Eva Albrecht, Najaf Amin, Marian Beekman, Eco J C de Geus, Anjali Henders, Christopher P Nelson, Claire J Steves, Margie J Wright, Anton J M de Craen, Aaron Isaacs, Mary Matthews, Alireza Moayyeri, Grant W Montgomery, Ben A Oostra, Jacqueline M Vink, Tim D Spector, P Eline Slagboom, Nicholas G Martin, Nilesh J Samani, Cornelia M van Duijn and Dorret I Boomsma Eur J Hum Genet 2013 21: 1163-1168; advance online publication, January 16, 2013; 10.1038/ejhg.2012.303 Abstract | Full Text Short Reports Top Where Birt–Hogg–Dubé meets Cowden Syndrome: mirrored genetic defects in two cases of syndromic oncocytic tumours Laura Maria Pradella, Martin Lang, Ivana Kurelac, Elisa Mariani, Flora Guerra, Roberta Zuntini, Giovanni Tallini, Alan MacKay, Jorge S Reis-Filho, Marco Seri, Daniela Turchetti and Giuseppe Gasparre Eur J Hum Genet 2013 21: 1169-1172; advance online publication, February 6, 2013; 10.1038/ejhg.2013.8 Abstract | Full Text Stargardt Disease: towards developing a model to predict phenotype Laura Heathfield, Miguel Lacerda, Christel Nossek, Lisa Roberts and Rajkumar S Ramesar Eur J Hum Genet 2013 21: 1173-1176; advance online publication, May 22, 2013; 10.1038/ejhg.2013.92 Abstract | Full Text Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation Anne Frühmesser, Jonathon Blake, Edda Haberlandt, Bianka Baying, Benjamin Raeder, Heiko Runz, Ana Spreiz, Christine Fauth, Vladimir Benes, Gerd Utermann, Johannes Zschocke and Dieter Kotzot Eur J Hum Genet 2013 21: 1177-1180; advance online publication, February 20, 2013; 10.1038/ejhg.2013.18 Abstract | Full Text HLA-DQB1*02 and DQB1*06:03P are associated with peanut allergy Anne-Marie Madore, Vanessa T Vaillancourt, Yuka Asai, Reza Alizadehfar, Moshe Ben-Shoshan, Deborah L Michel, Anita L Kozyrskyj, Allan Becker, Moira Chan-Yeung, Ann E Clarke, Peter Hull, Denise Daley, Andrew J Sandford and Catherine Laprise Eur J Hum Genet 2013 21: 1181-1184; advance online publication, February 27, 2013; 10.1038/ejhg.2013.13 Abstract | Full Text Clinical Utility Gene Cards Top Clinical utility gene card for: Long-QT Syndrome (types 1–13) Britt-Maria Beckmann, Arthur A M Wilde and Stefan Kääb Eur J Hum Genet 2013 21: ; advance online publication, March 20, 2013; 10.1038/ejhg.2013.28 Full Text Clinical utility gene card for: poikiloderma with neutropenia Lidia Larizza, Gloria Negri, Elisa Adele Colombo, Ludovica Volpi and Yves Sznajer Eur J Hum Genet 2013 21: ; advance online publication, January 16, 2013; 10.1038/ejhg.2012.298 Full Text Clinical utility gene card for: Dilated Cardiomyopathy (CMD) Anna Posafalvi, Johanna C Herkert, Richard J Sinke, Maarten P van den Berg, Jens Mogensen, Jan D H Jongbloed and J Peter van Tintelen Eur J Hum Genet 2013 21: ; advance online publication, December 19, 2012; 10.1038/ejhg.2012.276 Full Text Clinical Utility Gene Cards Updates Top Clinical utility gene card for: Joubert Syndrome - update 2013 Enza Maria Valente, Francesco Brancati, Eugen Boltshauser and Bruno Dallapiccola Eur J Hum Genet 2013 21: ; advance online publication, February 13, 2013; 10.1038/ejhg.2013.10 Full Text Clinical utility gene card for: Diamond – Blackfan Anemia – update 2013 Adrianna Vlachos, Niklas Dahl, Irma Dianzani and Jeffrey M Lipton Eur J Hum Genet 2013 21: ; advance online publication, March 6, 2013; 10.1038/ejhg.2013.34 Full Text Clinical utility gene card for: Lesch–Nyhan Syndrome - update 2013 Rosa J Torres, Juan G Puig and Irène Ceballos-Picot Eur J Hum Genet 2013 21: ; advance online publication, January 16, 2013; 10.1038/ejhg.2012.304 Full Text Clinical utility gene card for: Gorlin Syndrome - update 2013 Lorenzo Lo Muzio, Lorenza Pastorino, Sonja Levanat, Vesna Musani, Mima Situm, Giovanni Ponti and Giovanna Bianchi Scarra Eur J Hum Genet 2013 21: ; advance online publication, January 30, 2013; 10.1038/ejhg.2012.299 Full Text Corrigendum Top Stargardt disease: towards developing a model to predict phenotype Laura Heathfield, Miguel Lacerda, Christel Nossek, Lisa Roberts and Rajkumar S Ramesar Eur J Hum Genet 2013 21: 1190; 10.1038/ejhg.2013.179 Full Text Natureevents is a fully searchable, multi-disciplinary database designed to maximise exposure for events organisers. 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