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

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European Journal of Human Genetics


Volume 25, Issue 3 (February 2017)

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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

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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

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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

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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

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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


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



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

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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

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