European Journal of Human Genetics - Table of Contents alert Volume 24 Issue 6

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TABLE OF CONTENTS Volume 24, Issue 6 (June 2016) In this issue Policy Review Articles Short Reports Book Review Also new AOP Sign up for e-alerts Recommend to your library Web feed Subscribe Advertisement Visit us in Barcelona at the ESHG Annual Meeting, May 21-23 Come and pick up free journal copies including European Journal of Human Genetics, Nature Genetics, Heredity and Genetics in Medicine, stress balls, pens and more in Barcelona. We will be at booth #736 - hope to see you there!  Find out more Policy Top Responsible implementation of expanded carrier screeningEJHGOPEN Lidewij Henneman, Pascal Borry, Davit Chokoshvili, Martina C Cornel, Carla G van El, Francesca Forzano, Alison Hall, Heidi C Howard, Sandra Janssens, Hülya Kayserili, Phillis Lakeman, Anneke Lucassen, Sylvia A Metcalfe, Lovro Vidmar, Guido de Wert, Wybo J Dondorp and Borut Peterlin on behalf of the European Society of Human Genetics (ESHG) Eur J Hum Genet 2016 24: e1-e12; advance online publication, March 16, 2016; 10.1038/ejhg.2015.271 Abstract | Full Text Review Top Prenatal molecular testing for Beckwith–Wiedemann and Silver–Russell syndromes: a challenge for molecular analysis and genetic counseling Thomas Eggermann, Frédéric Brioude, Silvia Russo, Maria P Lombardi, Jet Bliek, Eamonn R Maher, Lidia Larizza, Dirk Prawitt, Irène Netchine, Marie Gonzales, Karen Grønskov, Zeynep Tümer, David Monk, Marcel Mannens, Krystyna Chrzanowska, Malgorzata K Walasek, Matthias Begemann, Lukas Soellner, Katja Eggermann, Jair Tenorio, Julián Nevado, Gudrun E Moore, Deborah JG Mackay, Karen Temple, Gabriele Gillessen-Kaesbach, Tsutomu Ogata, Rosanna Weksberg, Elizabeth Algar and Pablo Lapunzina Eur J Hum Genet 2016 24: 784-793; advance online publication, October 28, 2015; 10.1038/ejhg.2015.224 Abstract | Full Text Articles Top Developing an intervention to facilitate family communication about inherited genetic conditions, and training genetic counsellors in its deliveryEJHGOPEN The Socio-Psychological Research in Genomics (SPRinG) Collaboration:, Ivan Eisler, Matthew Ellison, Frances Flinter, Jo Grey, Suzanne Hutchison, Carole Jackson, Louise Longworth, Rhona MacLeod, Marion McAllister, Alison Metcalfe, Trevor Murrells, Christine Patch, Stuart Pritchard, Glenn Robert, Emma Rowland and Fiona Ulph Eur J Hum Genet 2016 24: 794-802; advance online publication, October 7, 2015; 10.1038/ejhg.2015.215 Abstract | Full Text Patient hopes for diagnostic genomic sequencing: roles of uncertainty and social status Cynthia M Khan, Elizabeth G Moore, Cristina Leos and Christine Rini Eur J Hum Genet 2016 24: 803-808; advance online publication, September 23, 2015; 10.1038/ejhg.2015.204 Abstract | Full Text Development and validation of a measure of informed choice for women undergoing non-invasive prenatal testing for aneuploidyEJHGOPEN Celine Lewis, Melissa Hill, Heather Skirton and Lyn S Chitty Eur J Hum Genet 2016 24: 809-816; advance online publication, October 28, 2015; 10.1038/ejhg.2015.207 Abstract | Full Text Genetic investigations of sudden unexpected deaths in infancy using next-generation sequencing of 100 genes associated with cardiac diseases Christin Loeth Hertz, Sofie Lindgren Christiansen, Maiken Kudahl Larsen, Morten Dahl, Laura Ferrero-Miliani, Peter Ejvin Weeke, Oluf Pedersen, Torben Hansen, Niels Grarup, Gyda Lolk Ottesen, Rune Frank-Hansen, Jytte Banner and Niels Morling Eur J Hum Genet 2016 24: 817-822; advance online publication, September 9, 2015; 10.1038/ejhg.2015.198 Abstract | Full Text RET and EDNRB mutation screening in patients with Hirschsprung disease: Functional studies and its implications for genetic counseling Titis Widowati, Shamiram Melhem, Suryono Y Patria, Bianca M de Graaf, Richard J Sinke, Martijn Viel, Jos Dijkhuis, Ahmad H Sadewa, Rochadi Purwohardjono, Yati Soenarto, Robert MW Hofstra and Yunia Sribudiani Eur J Hum Genet 2016 24: 823-829; advance online publication, September 23, 2015; 10.1038/ejhg.2015.214 Abstract | Full Text 9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping Sophie Nambot, Alice Masurel, Salima El Chehadeh, Anne-Laure Mosca-Boidron, Christel Thauvin-Robinet, Mathilde Lefebvre, Nathalie Marle, Julien Thevenon, Stéphanie Perez-Martin, Véronique Dulieu, Frédéric Huet, Ghislaine Plessis, Joris Andrieux, Pierre-Simon Jouk, Gipsy Billy-Lopez, Charles Coutton, Fanny Morice-Picard, Marie-Ange Delrue, Delphine Heron, Caroline Rooryck, Alice Goldenberg, Pascale Saugier-Veber, Géraldine Joly-Hélas, Patricia Calenda, Paul Kuentz, Sylvie Manouvrier-Hanu, Sophie Dupuis-Girod, Patrick Callier and Laurence Faivre Eur J Hum Genet 2016 24: 830-837; advance online publication, September 23, 2015; 10.1038/ejhg.2015.202 Abstract | Full Text A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disabilityEJHGOPEN Anne-Laure Mosca-Boidron, Lucie Gueneau, Guillaume Huguet, Alice Goldenberg, Céline Henry, Nadège Gigot, Emilie Pallesi-Pocachard, Antonio Falace, Laurence Duplomb, Julien Thevenon, Yannis Duffourd, Judith ST-Onge, Pascal Chambon, Jean-Baptiste Rivière, Christel Thauvin-Robinet, Patrick Callier, Nathalie Marle, Muriel Payet, Clemence Ragon, Hany Goubran Botros, Julien Buratti, Sophie Calderari, Guillaume Dumas, Richard Delorme, Nathalie Lagarde, Jean-Michel Pinoit, Antoine Rosier, Alice Masurel-Paulet, Carlos Cardoso, Francine Mugneret, Pascale Saugier-Veber, Dominique Campion, Laurence Faivre and Thomas Bourgeron Eur J Hum Genet 2016 24: 838-843; advance online publication, September 23, 2015; 10.1038/ejhg.2015.211 Abstract | Full Text A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH Céline Poirsier, Justine Besseau-Ayasse, Caroline Schluth-Bolard, Jérôme Toutain, Chantal Missirian, Cédric Le Caignec, Anne Bazin, Marie Christine de Blois, Paul Kuentz, Marie Catty, Agnès Choiset, Ghislaine Plessis, Audrey Basinko, Pascaline Letard, Elisabeth Flori, Mélanie Jimenez, Mylène Valduga, Emilie Landais, Hakima Lallaoui, François Cartault, James Lespinasse, Dominique Martin-Coignard, Patrick Callier, Céline Pebrel-Richard, Marie-France Portnoi, Tiffany Busa, Aline Receveur, Florence Amblard, Catherine Yardin, Radu Harbuz, Fabienne Prieur, Nathalie Le Meur, Eva Pipiras, Pascale Kleinfinger, François Vialard and Martine Doco-Fenzy Eur J Hum Genet 2016 24: 844-851; advance online publication, October 28, 2015; 10.1038/ejhg.2015.219 Abstract | Full Text A canine orthologue of the human GFAP c.716G>A (p.Arg239His) variant causes Alexander disease in a Labrador retriever Mario Van Poucke, Valentine Martlé, Leen Van Brantegem, Richard Ducatelle, Luc Van Ham, Sofie Bhatti and Luc J Peelman Eur J Hum Genet 2016 24: 852-856; advance online publication, October 21, 2015; 10.1038/ejhg.2015.223 Abstract | Full Text Hereditary spastic paraplegia in Greece: characterisation of a previously unexplored population using next-generation sequencing David S Lynch, Georgios Koutsis, Arianna Tucci, Marios Panas, Markella Baklou, Marianthi Breza, Georgia Karadima and Henry Houlden Eur J Hum Genet 2016 24: 857-863; advance online publication, September 16, 2015; 10.1038/ejhg.2015.200 Abstract | Full Text A rare variant (c.863G>T) in exon 7 of SMN1 disrupts mRNA splicing and is responsible for spinal muscular atrophy Yu-jin Qu, Jin-li Bai, Yan-yan Cao, Wen-hui Zhang, Hong Wang, Yu-wei Jin and Fang Song Eur J Hum Genet 2016 24: 864-870; advance online publication, September 30, 2015; 10.1038/ejhg.2015.213 Abstract | Full Text Imbalance of excitatory/inhibitory synaptic protein expression in iPSC-derived neurons from FOXG1+/− patients and in foxg1+/− mice Tommaso Patriarchi, Sonia Amabile, Elisa Frullanti, Elisa Landucci, Caterina Lo Rizzo, Francesca Ariani, Mario Costa, Francesco Olimpico, Johannes W Hell, Flora M Vaccarino, Alessandra Renieri and Ilaria Meloni Eur J Hum Genet 2016 24: 871-880; advance online publication, October 7, 2015; 10.1038/ejhg.2015.216 Abstract | Full Text BRCA1/2 testing in newly diagnosed breast and ovarian cancer patients without prior genetic counselling: the DNA-BONus studyEJHGOPEN Hildegunn Høberg-Vetti, Cathrine Bjorvatn, Bent E Fiane, Turid Aas, Kathrine Woie, Helge Espelid, Tone Rusken, Hans Petter Eikesdal, Wenche Listøl, Marianne T Haavind, Per M Knappskog, Bjørn Ivar Haukanes, Vidar M Steen and Nicoline Hoogerbrugge Eur J Hum Genet 2016 24: 881-888; advance online publication, September 9, 2015; 10.1038/ejhg.2015.196 Abstract | Full Text A recessive form of extreme macrocephaly and mild intellectual disability complements the spectrum of PTEN hamartoma tumour syndrome Tobias Schwerd, Andrea V Khaled, Manfred Schürmann, Hannah Chen, Norman Händel, André Reis, Gabriele Gillessen-Kaesbach, Holm H Uhlig and Rami Abou Jamra Eur J Hum Genet 2016 24: 889-894; advance online publication, October 7, 2015; 10.1038/ejhg.2015.209 Abstract | Full Text Prediction of male-pattern baldness from genotypes Fan Liu, Merel A Hamer, Stefanie Heilmann, Christine Herold, Susanne Moebus, Albert Hofman, André G Uitterlinden, Markus M Nöthen, Cornelia M van Duijn, Tamar EC Nijsten and Manfred Kayser Eur J Hum Genet 2016 24: 895-902; advance online publication, October 28, 2015; 10.1038/ejhg.2015.220 Abstract | Full Text Effect of six type II diabetes susceptibility loci and an FTO variant on obesity in Pakistani subjects  Shabana, Saleem Ullah Shahid, Ka Wah Li, Jayshree Acharya, Jackie A Cooper, Shahida Hasnain and Stephen E Humphries Eur J Hum Genet 2016 24: 903-910; advance online publication, September 23, 2015; 10.1038/ejhg.2015.212 Abstract | Full Text Heterozygous deletion of the LRFN2 gene is associated with working memory deficits Julien Thevenon, Céline Souchay, Gail K Seabold, Inna Dygai-Cochet, Patrick Callier, Sébastien Gay, Lucie Corbin, Laurence Duplomb, Christel Thauvin-Robinet, Alice Masurel-Paulet, Salima El Chehadeh, Magali Avila, Delphine Minot, Eric Guedj, Sophie Chancenotte, Marlène Bonnet, Daphne Lehalle, Ya-Xian Wang, Paul Kuentz, Frédéric Huet, Anne-Laure Mosca-Boidron, Nathalie Marle, Ronald S Petralia and Laurence Faivre Eur J Hum Genet 2016 24: 911-918; advance online publication, October 21, 2015; 10.1038/ejhg.2015.221 Abstract | Full Text Differential effects of the APOE e4 allele on different domains of cognitive ability across the life-courseEJHGOPEN Riccardo E Marioni, Archie Campbell, Generation Scotland, Caroline Hayward, David J Porteous and Ian J Deary Eur J Hum Genet 2016 24: 919-923; advance online publication, September 23, 2015; 10.1038/ejhg.2015.210 Abstract | Full Text Phenotypic extremes in rare variant study designs Gina M Peloso, Daniel J Rader, Stacey Gabriel, Sekar Kathiresan, Mark J Daly and Benjamin M Neale Eur J Hum Genet 2016 24: 924-930; advance online publication, September 9, 2015; 10.1038/ejhg.2015.197 Abstract | Full Text Genetic evidence for an origin of the Armenians from Bronze Age mixing of multiple populationsEJHGOPEN Marc Haber, Massimo Mezzavilla, Yali Xue, David Comas, Paolo Gasparini, Pierre Zalloua and Chris Tyler-Smith Eur J Hum Genet 2016 24: 931-936; advance online publication, October 21, 2015; 10.1038/ejhg.2015.206 Abstract | Full Text Origins, admixture and founder lineages in European Roma Begoña Martínez-Cruz, Isabel Mendizabal, Christine Harmant, Rosario de Pablo, Mihai Ioana, Dora Angelicheva, Anastasia Kouvatsi, Halyna Makukh, Mihai G Netea, Horolma Pamjav, Andrea Zalán, Ivailo Tournev, Elena Marushiakova, Vesselin Popov, Jaume Bertranpetit, Luba Kalaydjieva, Lluis Quintana-Murci and David Comas and the Genographic Consortium Eur J Hum Genet 2016 24: 937-943; advance online publication, September 16, 2015; 10.1038/ejhg.2015.201 Abstract | Full Text Short Reports Top De novo variants in sporadic cases of childhood onset schizophreniaEJHGOPEN Amirthagowri Ambalavanan, Simon L Girard, Kwangmi Ahn, Sirui Zhou, Alexandre Dionne-Laporte, Dan Spiegelman, Cynthia V Bourassa, Julie Gauthier, Fadi F Hamdan, Lan Xiong, Patrick A Dion, Ridha Joober, Judith Rapoport and Guy A Rouleau Eur J Hum Genet 2016 24: 944-948; advance online publication, October 28, 2015; 10.1038/ejhg.2015.218 Abstract | Full Text De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome Sylvie Langlois, Maja Tarailo-Graovac, Bryan Sayson, Britt Drögemöller, Anne Swenerton, Colin JD Ross, Wyeth W Wasserman and Clara DM van Karnebeek Eur J Hum Genet 2016 24: 949-953; advance online publication, October 21, 2015; 10.1038/ejhg.2015.217 Abstract | Full Text Book Review Top Introducing Genetics – 2nd Edition Elisabeth M Lodder Eur J Hum Genet 2016 24: 954; 10.1038/ejhg.2015.235 Full Text Natureevents is a fully searchable, multi-disciplinary database designed to maximise exposure for events organisers. 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