European Journal of Human Genetics - Table of Contents alert Volume 26 Issue n6

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Advertisement Our revolutionary AmplideX technology is expanding to new, high complexity targets, including those implicated in myotonic dystrophy, spinal muscular atrophy and Huntington's disease.  Visit us at the 2018 ESHG Annual Meeting     TABLE OF CONTENTS Volume 26, Issue 6 In this issue Review Article Article Brief Communication Clinical Utility Gene Card Also new AOP   Advertisement Come and visit us at the RCOphth annual congress in Liverpool, May 21st ? 24th The Eye journal will be at the Royal College of Ophthalmologists annual congress in Liverpool, UK. Pick up your complimentary copy and take away a free batch of sticky notes! Review Article Genetic predictors of systemic sclerosis-associated interstitial lung disease: a review of recent literature Carmel J. W. Stock & Elisabetta A. Renzoni European Journal of Human Genetics 2018 26 :765 - 777; February 23, 2018; 10.1038/s41431-018-0104-8   Abstract | Full Text RD-Connect, NeurOmics and EURenOmics: collaborative European initiative for rare diseases Hanns Lochmüller, Dorota M. Badowska, Rachel Thompson, Nine V. Knoers, Annemieke Aartsma-Rus et al. European Journal of Human Genetics 2018 26 :778 - 785; February 27, 2018; 10.1038/s41431-018-0115-5   Abstract | Full Text Article Genetic diseases and information to relatives: practical and ethical issues for professionals after introduction of a legal framework in France Diane d’Audiffret Van Haecke & Sandrine de Montgolfier European Journal of Human Genetics 2018 26 :786 - 795; February 27, 2018; 10.1038/s41431-018-0103-9   Abstract | Full Text Phenotype of CNTNAP1: a study of patients demonstrating a specific severe congenital hypomyelinating neuropathy with survival beyond infancy KJ Low, K Stals, R Caswell, M Wakeling, J Clayton-Smith et al. European Journal of Human Genetics 2018 26 :796 - 807; March 06, 2018; 10.1038/s41431-018-0110-x   Abstract | Full Text γ-glutamyl transpeptidase deficiency caused by a large homozygous intragenic deletion in GGT1 Niklas Darin, Karin Leckström, Per Sikora, Julia Lindgren, Gabriella Almén et al. European Journal of Human Genetics 2018 26 :808 - 817; February 26, 2018; 10.1038/s41431-018-0122-6   Abstract | Full Text Uncovering the genetic lesions underlying the most severe form of Hirschsprung disease by whole-genome sequencing Clara SM Tang, Xuehan Zhuang, Wai-Yee Lam, Elly Sau-Wai Ngan, Jacob Shujui Hsu et al. European Journal of Human Genetics 2018 26 :818 - 826; February 26, 2018; 10.1038/s41431-018-0129-z   Abstract | Full Text Genetics of dementia in a Finnish cohort Petra Pasanen, Liisa Myllykangas, Minna Pöyhönen, Anna Kiviharju, Maija Siitonen et al. European Journal of Human Genetics 2018 26 :827 - 837; February 23, 2018; 10.1038/s41431-018-0117-3   Abstract | Full Text A novel variant associated with HDL-C levels by modifying DAGLB expression levels: An annotation-based genome-wide association study Dan Zhou, Dandan Zhang, Xiaohui Sun, Zhiqiang Li, Yaqin Ni et al. European Journal of Human Genetics 2018 26 :838 - 847; February 23, 2018; 10.1038/s41431-018-0108-4   Abstract | Full Text The association between cancer family history and ovarian cancer risk in BRCA1/2 mutation carriers: can it be explained by the mutation position? Natalia Teixeira, Annemieke van der Hout, Jan C. Oosterwijk, Janet R. Vos, Peter Devilee et al. European Journal of Human Genetics 2018 26 :848 - 857; February 26, 2018; 10.1038/s41431-018-0111-9   Abstract | Full Text Novel variants in Nordic patients referred for genetic testing of telomere-related disorders Anna Norberg, Anna Rosén, Klas Raaschou-Jensen, Lars Kjeldsen, Jukka S. Moilanen et al. European Journal of Human Genetics 2018 26 :858 - 867; February 26, 2018; 10.1038/s41431-018-0112-8   Abstract | Full Text Genetic determinants of glycated hemoglobin levels in the Greenlandic Inuit population Emil V. R. Appel, Ida Moltke, Marit E. Jørgensen, Peter Bjerregaard, Allan Linneberg et al. European Journal of Human Genetics 2018 26 :868 - 875; February 26, 2018; 10.1038/s41431-018-0109-3   Abstract | Full Text Linked homozygous BMPR1B and PDHA2 variants in a consanguineous family with complex digit malformation and male infertility Yeşerin Yıldırım, Toufik Ouriachi, Ute Woehlbier, Wahiba Ouahioune, Mahmut Balkan et al. European Journal of Human Genetics 2018 26 :876 - 885; March 26, 2018; 10.1038/s41431-018-0121-7   Abstract | Full Text A genome-wide characterization of copy number variations in native populations of Peninsular Malaysia Ruiqing Fu, Siti Shuhada Mokhtar, Maude Elvira Phipps, Boon-Peng Hoh & Shuhua Xu European Journal of Human Genetics 2018 26 :886 - 897; February 23, 2018; 10.1038/s41431-018-0120-8   Abstract | Full Text New insights from Thailand into the maternal genetic history of Mainland Southeast Asia Wibhu Kutanan, Jatupol Kampuansai, Andrea Brunelli, Silvia Ghirotto, Pittayawat Pittayaporn et al. European Journal of Human Genetics 2018 26 :898 - 911; February 26, 2018; 10.1038/s41431-018-0113-7   Abstract | Full Text Brief Communication Whole-exome sequence analysis highlights the role of unmasked recessive mutations in copy number variants with incomplete penetrance Matthieu Egloff, Lam-Son Nguyen, Karine Siquier-Pernet, Valérie Cormier-Daire, Geneviève Baujat et al. European Journal of Human Genetics 2018 26 :912 - 918; February 26, 2018; 10.1038/s41431-018-0124-4   Abstract | Full Text Clinical Utility Gene Card Clinical utility gene card: for pseudoxanthoma elasticum Anne Legrand, Karelle Benistan, Jean Michael Mazzella, Salma Adham, Michael Frank et al. European Journal of Human Genetics 2018 26 :919 - 924; February 27, 2018; 10.1038/s41431-017-0090-2   Abstract | Full Text Advertisement Nature Briefing is an essential round-up of science news, opinion and analysis, free in your inbox every weekday. With Nature Briefing, we'll keep you updated on the latest research, so you can focus on yours. Click here to sign up. Natureevents is a fully searchable, multi-disciplinary database designed to maximise exposure for events organisers. The contents of the Natureevents Directory are now live. The digital version is available here. Find the latest scientific conferences, courses, meetings and symposia on natureevents.com. 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