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Volume 25, No 1
January 2017
ISSN: 1018-4813
EISSN: 1476-5438
2015 Impact Factor 4.580*
60/289 Biochemistry & Molecular Biology
30/165 Genetics & Heredity
Editor-in-Chief:
G-J B van Ommen
FEATURED ARTICLES
Article
Differential expression of parental alleles of BRCA1 in human preimplantation embryos FREEArticle
A Pathway-centric Approach to Rare Variant Association Analysis OpenReview
International differences in the evaluation of conditions for newborn bloodspot screening: a review of scientific literature and policy documentsArticle
Advantages of expanded universal carrier screening: What is at stake?Article
Biobank attributes associated with higher patient participation: a randomized studyArticle
Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short statureAdvance online publication in full
*2014 Journal Citation Reports® Science Edition (Thomson Reuters, 2015)
NEWS
European Journal of Human Genetics – How to Get Published Session
Thank you to everyone who attended our recent 'How to Get Published' session at ESHG in Barcelona.
For those who didn't make it, please see our write-up and editor-in-chief presentation which we hope will help with the whole process of publishing.
EJHG-Tube
European Journal of Human Genetics is pleased to announce that authors can now include Video Presentations as part of their submissions. Video Material allows authors to go beyond the usual constraints of the written word, whilst not only increasing the visibility of their research but also enhancing the user experience of the journal's international readership. This is an exciting and unique way to display the findings of your paper and succinctly and creatively convey the take home message to readers. Please see EJHG-Tube for our first Video Presentations and also refer to the journal's Guide to Authors for details on how to do this yourself.
Announcement
EU Cost Action BMI206: Cooperation Studies on Inherited Susceptibility to Colorectal Cancer
Thank you to everyone who attended our 'How to get published' session at ESHG.
For those who didn't make it, please see our presentation and booklet which we hope will help with the whole process of publishing.
![EJHG Open](https://webarchive.library.unt.edu/web/20170106032918im_/http://www.nature.com/ejhg/images/ejhg_open.gif)
Open Access Publication
Authors of research articles can opt to pay an article processing charge (APC) for their accepted articles to be open access online immediately upon publication. Open access articles are published under Creative Commons licenses, which allow authors to retain copyright to their work while making it open to readers.
Visit our Open Research Site for detailed information about publishing open access.
![ESHG logo](https://webarchive.library.unt.edu/web/20170106032918im_/http://www.nature.com/ejhg/images/eshg_news.gif)
ESHG Policy
Read ESHG's recommendations and background information on important policy issues - see the recent supplement: Whole genome sequencing in human health care: Recommendations of the European Society of Human Genetics
![EJHG Practical Genetics](https://webarchive.library.unt.edu/web/20170106032918im_/http://www.nature.com/ejhg/images/practical_genetics.jpg)
Practical Genetics
The Practical Genetics series delivers a one-stop-shop information resource for genetics clinicians.
![Clinical Utility Gene Cards](https://webarchive.library.unt.edu/web/20170106032918im_/http://www.nature.com/ejhg/images/clinical_utility_gene_cards.jpg)
Clinical Utility Gene Cards
Clinical Utility Gene Cards, commissioned by EuroGentest, bring together information on specific diseases and provide clinicians with guidance on disease characteristics and genetic testing.
![Nature Reviews Genetics](https://webarchive.library.unt.edu/web/20170106032918im_/http://www.nature.com/ejhg/images/nr_genetics.jpg)
Nature Reviews Genetics
A new article from Nature Reviews Genetics: Cancer pharmacogenomics: strategies and challenges.
![Nature Genetics](https://webarchive.library.unt.edu/web/20170106032918im_/http://www.nature.com/ejhg/images/nature_genetics.jpg)
Nature Genetics
Visit the Genetics @nature.com Subject Area Page.
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Research and Reviews
Latest research highlights and reviews from the Springer Nature family of journals
-
Genetic risk and longitudinal disease activity in systemic lupus erythematosus using targeted maximum likelihood estimation
- this content is FREE
Source: Gene -
Materials and technologies for soft implantable neuroprostheses
Source: Nature Reviews Materials -
A high-throughput-compatible assay to measure the degradation of endogenous Huntingtin proteins
- this content is FREE
Source: Acta Pharmacologica Sinica
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Genetic risk and longitudinal disease activity in systemic lupus erythematosus using targeted maximum likelihood estimation
Author Benefits of publishing in European Journal of Human Genetics
- Official journal of the European Society of Human Genetics
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- Included in top indexing databases and has an impact factor of 4.580!
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- Easy and quick online submission system
- Rapid and rigorous peer review
- Articles published online ahead of print within 25 days of acceptance
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