Wednesday, May 30, 2018

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

If you are unable to see the message below, click here to view.
European Journal of Human Genetics

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


Volume 26, Issue 6

In this issue
Review Article
Brief Communication
Clinical Utility Gene Card
Also new
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


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

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.
nature events
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 For event advertising opportunities across the Nature Publishing Group portfolio please contact
More Nature Events

Please note that you need to be a subscriber or site-licence holder to enjoy full-text access to European Journal of Human Genetics. In order to do so, please purchase a subscription.

You have been sent this Table of Contents Alert because you have opted in to receive it. You can change or discontinue your e-mail alerts at any time, by modifying your preferences on your account at: (You will need to log in to be recognised as a registrant).

For further technical assistance, please contact our registration department.

For print subscription enquiries, please contact our subscription department.

For other enquiries, please contact our customer feedback department.

Springer Nature |One New York Plaza, Suite 4500 | New York | NY 10004-1562 | USA

Springer Nature's worldwide offices:
London - Paris - Munich - New Delhi - Tokyo - Melbourne
San Diego - San Francisco - Washington - New York - Boston

Macmillan Publishers Limited is a company incorporated in England and Wales under company number 785998 and whose registered office is located at The Campus, 4 Crinan Street, London, N1 9XW.

© 2018 Macmillan Publishers Limited, part of Springer Nature. All Rights Reserved.

Springer Nature

No comments: