European Journal of Human Genetics - Table of Contents alert Volume 25 Issue n3

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TABLE OF CONTENTS Volume 25, Issue 3 (February 2017) In this issue Letter Articles Short Reports Corrigenda Also new AOP Sign up for e-alerts Recommend to your library Web feed Subscribe Letter Top Fading competency of cytogenetic diagnostic laboratories: the alarm bell has started to ring Ron Hochstenbach, Anna Slunga-Tallberg, Caroline Devlin, Giovanna Floridia, Marta Rodríguez de Alba, Shama Bhola, Katrina Rack and Ros Hastings Eur J Hum Genet 2017 25: 273-274; advance online publication, December 21, 2016; 10.1038/ejhg.2016.177 Full Text Articles Top Recontacting in clinical practice: an investigation of the views of healthcare professionals and clinical scientists in the United KingdomEJHGOPEN Daniele Carrieri, Sandi Dheensa, Shane Doheny, Angus J Clarke, Peter D Turnpenny, Anneke M Lucassen and Susan E Kelly Eur J Hum Genet 2017 25: 275-279; advance online publication, January 4, 2017; 10.1038/ejhg.2016.188 Abstract | Full Text Psychological and behavioural impact of returning personal results from whole-genome sequencing: the HealthSeq projectEJHGOPEN Saskia C Sanderson, Michael D Linderman, Sabrina A Suckiel, Randi Zinberg, Melissa Wasserstein, Andrew Kasarskis, George A Diaz and Eric E Schadt Eur J Hum Genet 2017 25: 280-292; advance online publication, January 4, 2017; 10.1038/ejhg.2016.178 Abstract | Full Text Access policies in biobank research: what criteria do they include and how publicly available are they? A cross-sectional study Holger Langhof, Hannes Kahrass, Sören Sievers and Daniel Strech Eur J Hum Genet 2017 25: 293-300; advance online publication, December 21, 2016; 10.1038/ejhg.2016.172 Abstract | Full Text Prevalence, birth incidence, and penetrance of von Hippel–Lindau disease (vHL) in Denmark Marie Louise Mølgaard Binderup, Michael Galanakis, Esben Budtz-Jørgensen, Michael Kosteljanetz and Marie Luise Bisgaard Eur J Hum Genet 2017 25: 301-307; advance online publication, December 14, 2016; 10.1038/ejhg.2016.173 Abstract | Full Text The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands Celia Zazo Seco, Mieke Wesdorp, Ilse Feenstra, Rolph Pfundt, Jayne Y Hehir-Kwa, Stefan H Lelieveld, Steven Castelein, Christian Gilissen, Ilse J de Wijs, Ronald JC Admiraal, Ronald JE Pennings, Henricus PM Kunst, Jiddeke M van de Kamp, Saskia Tamminga, Arjan C Houweling, Astrid S Plomp, Saskia M Maas, Pia AM de Koning Gans, Sarina G Kant, Christa M de Geus, Suzanna GM Frints, Els K Vanhoutte, Marieke F van Dooren, Marie- José H van den Boogaard, Hans Scheffer, Marcel Nelen, Hannie Kremer, Lies Hoefsloot, Margit Schraders and Helger G Yntema Eur J Hum Genet 2017 25: 308-314; advance online publication, December 21, 2016; 10.1038/ejhg.2016.182 Abstract | Full Text Severe neurodegenerative disease in brothers with homozygous mutation in POLR1A Bülent Kara, Çiğdem Köroğlu, Karita Peltonen, Ruchama C Steinberg, Hülya Maraş Genç, Maarit Hölttä-Vuori, Ayşe Güven, Kristiina Kanerva, Tuğba Kotil, Seyhun Solakoğlu, You Zhou, Vesa M Olkkonen, Elina Ikonen, Marikki Laiho and Aslıhan Tolun Eur J Hum Genet 2017 25: 315-323; advance online publication, January 4, 2017; 10.1038/ejhg.2016.183 Abstract | Full Text FIG4 variants in central European patients with amyotrophic lateral sclerosis: a whole-exome and targeted sequencing study Alma Osmanovic, Isolde Rangnau, Anne Kosfeld, Susanne Abdulla, Claas Janssen, Bernd Auber, Peter Raab, Matthias Preller, Susanne Petri and Ruthild G Weber Eur J Hum Genet 2017 25: 324-331; advance online publication, January 4, 2017; 10.1038/ejhg.2016.186 Abstract | Full Text The targetable A1 Huntington disease haplotype has distinct Amerindian and European origins in Latin America Chris Kay, Indira Tirado-Hurtado, Mario Cornejo-Olivas, Jennifer A Collins, Galen Wright, Miguel Inca-Martinez, Diego Veliz-Otani, Maria E Ketelaar, Ramy A Slama, Colin J Ross, Pilar Mazzetti and Michael R Hayden Eur J Hum Genet 2017 25: 332-340; advance online publication, December 21, 2016; 10.1038/ejhg.2016.169 Abstract | Full Text A two-stage inter-rater approach for enrichment testing of variants associated with multiple traitsEJHGOPEN Jennifer L Asimit, Felicity Payne, Andrew P Morris, Heather J Cordell and Inês Barroso Eur J Hum Genet 2017 25: 341-349; advance online publication, December 21, 2016; 10.1038/ejhg.2016.171 Abstract | Full Text Meta-analysis of quantitative pleiotropic traits for next-generation sequencing with multivariate functional linear models Chi-yang Chiu, Jeesun Jung, Wei Chen, Daniel E Weeks, Haobo Ren, Michael Boehnke, Christopher I Amos, Aiyi Liu, James L Mills, Mei-ling Ting Lee, Momiao Xiong and Ruzong Fan Eur J Hum Genet 2017 25: 350-359; advance online publication, December 21, 2016; 10.1038/ejhg.2016.170 Abstract | Full Text Different kinds of genetic markers permit inference of Paleolithic and Neolithic expansions in humans Carla Aimé and Frédéric Austerlitz Eur J Hum Genet 2017 25: 360-365; advance online publication, December 21, 2016; 10.1038/ejhg.2016.191 Abstract | Full Text Short Reports Top Absence of Hikeshi, a nuclear transporter for heat-shock protein HSP70, causes infantile hypomyelinating leukoencephalopathy Catalina Vasilescu, Pirjo Isohanni, Maarit Palomäki, Helena Pihko, Anu Suomalainen and Christopher J Carroll Eur J Hum Genet 2017 25: 366-370; advance online publication, December 21, 2016; 10.1038/ejhg.2016.189 Abstract | Full Text A synonymous splicing mutation in the SF3B4 gene segregates in a family with highly variable Nager syndrome Matteo Cassina, Cristina Cerqua, Silvia Rossi, Leonardo Salviati, Alessandro Martini, Maurizio Clementi and Eva Trevisson Eur J Hum Genet 2017 25: 371-375; advance online publication, December 14, 2016; 10.1038/ejhg.2016.176 Abstract | Full Text Novel homozygous missense variant of GRIN1 in two sibs with intellectual disability and autistic features without epilepsy Massimiliano Rossi, Nicolas Chatron, Audrey Labalme, Dorothée Ville, Maryline Carneiro, Patrick Edery, Vincent des Portes, Johannes R Lemke, Damien Sanlaville and Gaetan Lesca Eur J Hum Genet 2017 25: 376-380; advance online publication, January 4, 2017; 10.1038/ejhg.2016.163 Abstract | Full Text Mosaicism and prenatal diagnosis options: insights from retinoblastoma Catherine Dehainault, Lisa Golmard, Gaël A Millot, Agathe Charpin, Anthony Laugé, Julien Tarabeux, Isabelle Aerts, Nathalie Cassoux, Dominique Stoppa-Lyonnet, Marion Gauthier-Villars and Claude Houdayer Eur J Hum Genet 2017 25: 381-383; advance online publication, December 21, 2016; 10.1038/ejhg.2016.174 Abstract | Full Text SNP variants at the MAP3K1/SETD9 locus 5q11.2 associate with somatic PIK3CA variants in breast cancers Roberto Puzone and Ulrich Pfeffer Eur J Hum Genet 2017 25: 384-387; advance online publication, December 28, 2016; 10.1038/ejhg.2016.179 Abstract | Full Text Investigating mitochondrial DNA relationships in Neolithic Western Europe through serial coalescent simulations Maïté Rivollat, Stéphane Rottier, Christine Couture, Marie- Hélène Pemonge, Fanny Mendisco, Mark G Thomas, Marie-France Deguilloux and Pascale Gerbault Eur J Hum Genet 2017 25: 388-392; advance online publication, December 28, 2016; 10.1038/ejhg.2016.180 Abstract | Full Text Corrigenda Top Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene–disease associations and unanticipated rare disorders Bart P van de Warrenburg, Meyke I Schouten, Susanne T de Bot, Sascha Vermeer, Rowdy Meijer, Maartje Pennings, Christian Gilissen, Michèl AAP Willemsen, Hans Scheffer and Erik-Jan Kamsteeg Eur J Hum Genet 2017 25: 393-0; 10.1038/ejhg.2016.168 Full Text Mitochondrial encephalomyopathy and retinoblastoma explained by compound heterozygosity of SUCLA2 point mutation and 13q14 deletion Sanna Matilainen, Pirjo Isohanni, Liliya Euro, Tuula Lönnqvist, Helena Pihko, Tero Kivelä, Sakari Knuutila and Anu Suomalainen Eur J Hum Genet 2017 25: 0-393; 10.1038/ejhg.2016.166 Full Text Natureevents is a fully searchable, multi-disciplinary database designed to maximise exposure for events organisers. 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