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Guide for AuthorsWelcome to the electronic manuscript submission website for European Journal of Human Genetics. The instructions below are structured so you can quickly and easily answer the following questions:
European Journal of Human Genetics is published monthly by Nature Publishing Group and is abstracted or indexed in:
Scope
The European Journal of Human Genetics is the official Journal of the European Society of Human Genetics, publishing high-quality, research articles, short reports and reviews in the rapidly expanding field of human genetics and genomics. It covers molecular, clinical and cytogenetics, interfacing between advanced biomedical research and the clinician, and bridging the great diversity of facilities, resources and viewpoints in the genetics community. Key areas include:
The journal also publishes invited editorials and commentaries, announcements of Societal and other European activities and special issues of general interest for the Human Genetics community.
Editorial Policy
Editor-in-Chief:
Professor G.-J.B. van Ommen, Department of Human Genetics, Leiden University Medical Centre
The European Journal of Human Genetics publishes Research Articles, review articles, short reports, scientific correspondence, news and commentary articles and announcements.
For all articles that include information or clinical photographs relating to individual patients, where those patients could be identified by readers in any way, written and signed consent to publish must be obtained from each patient and a patient consent form should be mailed or faxed to the editorial office. Do not use patient’s names, initials or hospital numbers, especially on any illustrative material. Format of PapersPreparation of manuscripts
Margins: at least 3 cm all round.
Font/size: Times New Roman 12pt (or equivalent) throughout, including references.
Line spacing: Double-line spacing throughout, including references.
References: Numerical - see sub-section "References".
Figure Legend(s): These should be listed on a separate page following the reference section.
Figures and Tables: for format information see sub-sections "Figures" - "Tables". For all papers, authors are urged to write as concisely as possible. The online submission form will ask you to put forward the names and email addresses of four experts in the appropriate area of research for the manuscript. The online form will also ask you to confirm that all contributing authors have consented to publication of the material you are submitting. Approved human gene symbols should be obtained prior to submission from: HUGO Gene Nomenclature Committee (HGNC), Approved mouse nomenclature should be obtained prior to submission from: Lois Maltais, Mutations described should adhere to nomenclature developed by the Human Genome Variation Society: http://www.hgvs.org/mutnomen
Cover Letter Articles Full Length Manuscripts should not exceed 20 pages of A4 including references. Manuscript length may influence decision to publish or not.
Short Reports
Correspondence
Arrangement of Articles Title page This should bear the title of the paper (length of no more than 145 characters including spaces), the full names of the authors and the composition of consortia if applicable and their affiliations together with the name, full postal address, telephone and fax numbers, and e-mail address of the author to whom correspondence and reprint requests are to be sent. Please do not capitalise the title. There should be a running title of not more than 50 characters, including spaces. Some of this information will need to be additionally copied into the online submission form. Abstract This is an unstructured paragraph which states the purpose, basic procedures, main findings and principal conclusions of the study. The abstract should not exceed 250 words or contain abbreviations or references. Keywords For indexing purposes, a list of 3-6 keywords is essential. You will be prompted for these on the online submission form, but should include them with the manuscript too. Introduction This should assume that the reader is knowledgeable in the field and should therefore be as brief as possible. Materials and Methods Methods that have been published in detail elsewhere should not be described in detail. Any equipment mentioned should specify the manufacturer and their location. Results These should be presented succinctly in the same order as the experiments are described in materials and methods. Tables and especially graphics are encouraged for quantitative information. Discussion Do not recapitulate the results, but discuss their significance against the background of existing knowledge, and identify clearly those aspects that are novel. The final paragraph should highlight the main conclusion(s), and provide some indication of the direction future research should take. Acknowledgements These should be brief. Conflict of Interest Statement A conflict of interest statement must be included for each contributing author. Please see the Conflict of Interest guidelines at the end of the “Format of Papers” section for more information and for guidelines on what constitutes a conflict of interest. References Only papers closely related to the author's work should be quoted. Exhaustive lists should be avoided. References should appear as superscript numbers starting at 1. At the end of the paper they should be listed (double-spaced) in numerical order corresponding to the order of citation in the text. If there are 6 or fewer authors list them all; if there are 7 or more list the first 3 followed by et al. Abbreviations for titles of medical periodicals should conform to those used in the latest edition of Index Medicus. The first and last page numbers for each reference should be provided. Abstracts and letters must be identified as such. Papers in press may be included in the list of references. Papers submitted for publication and papers presented at meetings should not be included as references; nor should abstracts of papers presented at meetings not in the public domain. These should be cited as a personal communication in the text. Examples of References
Journal article: 1 Brown CJ, Ballabio A, Rupert JL et al: A gene from the region of the human X inactivation centre is expressed exclusively from the inactive X chromosome. Nature 1991; 349: 38-44.Monographs: 2 Heim S, Mitelman F: Cancer Cytogenetics. New York, Liss, 1987.Edited books: 3 Goddard AD, Solomon S: Genetic aspects of cancer; in Harris H, Hirschhorn K (eds): Advances in Human Genetics. New York, 1993, vol 21, pp 321-376. Non-Native Speakers of English Authors who are not native speakers of English who submit manuscripts to international journals often receive negative comments from referees or editors about the English-language usage in their manuscripts, and these problems can contribute to a decision to reject a paper. To help reduce the possibility of such problems, we strongly encourage such authors to take at least one of the following steps:
Inter-Biotec also provides a free online writing course to help biomedical scientists whose first language is not English to write and publish their papers in English-language journals. SPI Professional Editing Services Figures Figures and images should be labeled sequentially, numbered and cited in the text. Figure legends should be printed, double spaced, on a separate sheet titled ‘Titles and legends to figures’. Figures should be referred to specifically in the text of the paper but should not be embedded within the text. The use of three-dimensional histograms is strongly discouraged when the addition of the third dimension gives no extra information. If a table or figure has been published before, the authors must obtain written permission to reproduce the material in both print and electronic formats from the copyright owner and submit it with the manuscript. This follows for quotes, illustrations and other materials taken from previously published works not in the public domain. The original source should be cited in the figure caption or table footnote. Colour figures can be reproduced if necessary, but the authors will be expected to contribute towards the cost of publication. A quote will be supplied upon acceptance of your paper. Artwork GuidelinesDetailed guidelines for submitting artwork can be found by downloading the guidelines PDF. Using the guidelines, please submit production quality artwork with your initial online submission. If you have followed the guidelines, we will not require the artwork to be resubmitted following the peer-review process, if your paper is accepted for publication. Colour on the web Authors who wish their articles to have FREE colour figures on the web (only available in the HTML (full text) version of manuscripts) must supply separate files in the following format. These files should be submitted as supplementary information and authors are asked to mention they would like colour figures on the web in their submission letter. For Single Images:
For Multi-part Images :
Authors may be asked to pay the full colour fee for figures that are not submitted in the format described above. TablesThese should be labeled sequentially as Table 1, Table 2, etc. Each table should be typed on a separate page, numbered and titled, and cited in the text. Reference to table footnotes should be made by means of Arabic numerals. Tables should not duplicate the content of the text. They should consist of at least two columns; columns should always have headings. Authors should ensure that the data in the tables are consistent with those cited in the relevant places in the text, totals add up correctly, and percentages have been calculated correctly. Unlike figures or images, tables may be embedded into the word processing software if necessary, or supplied as separate electronic files. House Style As the electronic submission will provide the basic material for typesetting, it is important that papers are prepared in the general editorial style of the journal.
File Formats: File formats for manuscript files, figures and tables that are acceptable for our electronic manuscript submission process are given on the online forms. Further advice on file types is also available from the Tips webpage. Please follow our artwork guidelines for submitting figures, and use a common word-processing package (such as Microsoft Word) for the text. Either embed tables converted into images at the end of your Word document, or as a separate files in which ever program you used to generate them. If you submit raw data, this can be done in Excel, or tab/comma delimited format.
Supplementary information
Supplementary information is material directly relevant to the conclusion of an article that cannot be included in the printed version owing to space or format constraints. It is posted on the journal's web site and linked to the article when the article is published and may consist of data files, graphics, movies or extensive tables.
The printed article must be complete and self-explanatory without the supplementary information. Supplementary information enhances a reader’s understanding of the paper but is not essential to that understanding.
Supplementary information must be supplied to the editorial office in its final form for peer review. On acceptance the final version of the peer reviewed supplementary information should be submitted with the accepted paper.
To ensure that the contents of the supplementary information files can be viewed by the editor(s), referees and readers, please also submit a ‘read-me’ file containing brief instructions on how to use the file. Please note: currently, data submitted under Supplemental Material is not visible to reviewers and if it is essential that reviewers have access to this information, it should initially by included (as Supplemental Material) as either part of the Article file or under Tables or Figures with the headings Supplemental Table … or Supplemental Figure …. Supplying supplementary information files
Authors should ensure that supplementary information is supplied in its FINAL format because it is not subedited and will appear online exactly as originally submitted. It cannot be altered, nor new supplementary information added, after the paper has been accepted for publication.
Please supply the supplementary information via eJP, the electronic manuscript submission and tracking system, in an acceptable file format (see below).
Accepted file formats We cannot accept TeX and LaTeX.
File sizes must be as small as possible, so that they can be downloaded quickly. Images should not exceed 640 x 480 pixels (9 x 6.8 inches at 72 pixels per inch) but we would recommend 480 x 360 pixels as the maximum frame size for movies. We would also recommend a frame rate of 15 frames per second. If applicable to the presentation of the supplementary information, use a 256 colour palette. Please consider the use of lower specification for all of these points if the supplementary information can still be represented clearly. Our recommended maximum data rate is 150 KB/s.
The number of files should be limited to eight, and the total file size should not exceed 8 MB. Individual files should not exceed 1 MB. Please seek advice from the editorial office before sending files larger than our maximum size to avoid delays in publication. Further questions about the submission or preparation of supplementary information should be directed to the editorial office.
Conflict of interest For the purposes of this statement, competing interests are defined as those of a financial nature that, through their potential influence on behaviour or content, or from perception of such potential influences, could undermine the objectivity, integrity or perceived value of a publication. They can include any of the following:
It is difficult to specify a threshold at which a financial interest becomes significant, but note that many US universities require faculty members to disclose interests exceeding $10,000 or 5% equity in a company. Any such figure is arbitrary, so we offer as one possible practical alternative guideline: \"Declare all interests that could embarrass you were they to become publicly known after your work was published.\" We do not consider diversified mutual funds or investment trusts to constitute a competing financial interest. The statement must contain an explicit and unambiguous statement describing any potential conflict of interest, or lack thereof, for any of the authors as it relates to the subject of the report. Examples include “Dr. Smith receives compensation as a consultant for XYZ Company,” “Dr. Jones and Dr. Smith have financial holdings in ABC Company,” or “Dr. Jones owns a patent on the diagnostic device described in this report.” These statements acknowledging or denying conflicts of interest must be included in the manuscript under the heading Conflict of Interest. The Conflict of Interest disclosure appears in the cover letter, in the manuscript submission process and before the References section in the manuscript. Following the Conflict of Interest heading, there must be a listing for each author, detailing the professional services relevant to the submission. Neither the precise amount received from each entity nor the aggregate income from these sources needs to be provided. Professional services include any activities for which the individual is, has been, or will be compensated with cash, royalties, fees, stock or stock options in exchange for work performed, advice or counsel provided, or for other services related to the author’s professional knowledge and skills. This would include, but not necessarily be limited to, the identification of organizations from which the author received contracts or in which he or she holds an equity stake if professional services were provided in conjunction with the transaction. Examples of declarations are:
Submission of papersThe first thing you need to do, if you have not done so already, is register for an account. After this, please consult the instructions below to enable you to submit your article through our secure server. Please be sure that your browser is set to accept cookies. Our tracking system requires cookies for proper operation. (If you have Windows XP the defaults will need changing. For more details on this, please refer to the 'Tips' function on this site.)
Navigating the System
When you first access our tracking system, you will be taken to your Home page, where different categories of tasks are listed. If you are required to perform a pending action item or task, there will be a red arrow At any time please press HOME to go to the submission home page.
Process for Manuscript SubmissionPlease make sure you have gathered all the required manuscript information listed above BEFORE starting the submission process. The manuscript submission process starts by pressing the "Submit Manuscript" link on your "Home" page. The manuscript submission process is broken down into a series of 4 primary tasks that gather detailed information about your manuscript and allow you to upload the pertinent text and figure/image files. The sequence of screens is as follows:
You will need to have the following details for all authors before commencing online submission. Items in parenthesis may not be compulsory for co-authors:
In addition you will need:
Saving files with Microsoft Office 2007Microsoft Office 2007 saves files in an XML format by default (file extensions .docx, .pptx and xlsx). Files saved in this format cannot be accepted for publication. Save Word documents using the file extension .doc
These instructions also apply for the new versions of Excel and PowerPoint. Equations in Word must be created using Equation Editor 3.0 Equations created using the new equation editor in Word 2007 and saved as a "Word 97-2003 Document" (.doc) are converted to graphics and can no longer be edited. To insert or change an equation with the previous equation editor:
Do not use the “Equation" button in the “Symbols” section of the “Insert” tab.
Adobe Acrobat
Once you have submitted your files and the conversion is in progress, you may log off the Internet and come back later to check and approve the conversion. This process can take up to 5 - 10 minutes before the PDF, created in the conversion process, is ready for approval. Please remember that your manuscript will not be submitted until you have approved the converted files.
Conflict of interest. If you need additional help, you can click on the help signs
Manuscript Status After you approve your manuscript it is submitted and you will receive an acknowledgement email. You can check the status of your manuscript at any time in the review process by:
Licence to Publish The corresponding author must complete and sign the Licence to Publish form upon acceptance of the manuscript and return it to the editorial office. Failure to do so will result in delays to the publication of your paper. A copy of the Licence to Publish form can be found at http://mts-ejhg.nature.com/letters/ejhg_copyright.pdf ESHG does not require authors of original research papers to assign copyright of their published contributions. Authors grant NPG an exclusive licence to publish, in return for which they can re-use their papers in their future printed work. NPG's author licence page provides details of the policy and a sample form. Authors are encouraged to submit their version of the accepted, peer-reviewed manuscript to their funding body's archive, for public release six months after publication. In addition, authors are encouraged to archive their version of the manuscript in their institution's repositories (as well as on their personal web sites), also six months after the original publication. Authors should cite the publication reference and doi number on any deposited version, and provide a link from it to the published article on the NPG website. This policy complements the policies of the US National Institutes of Health, the Wellcome Trust and other research funding bodies around the world. NPG recognizes the efforts of funding bodies to increase access of the research they fund, and strongly encourages authors to participate in such efforts.
European Journal of Human Genetics open Upon submission of an original research paper, authors can indicate within the manuscript tracking system whether they wish to pay a one off fee to allow their article to become freely available immediately upon publication. The fee is £2,000/$3,000/€2,400 (plus VAT where applicable) and can be paid via credit card or by requesting an invoice be raised. By paying this fee authors are permitted to post the final, published, pdf of their article on a website, institutional repository or other free public server immediately on publication. Upon acceptance, authors must fill out and send back a payment form. This is mandatory and failure to send in the payment form along with the Licence to Publish form will result in the article being published as a standard paper behind access control. The licence to publish form has been amended to offer authors the choice of which licence to use on their paper and these choices are described below: The first is the Creative Commons Attribution-Noncommercial-No Derivative Works 3.0 Unported Licence and allows readers to download the article and share it with others as long as they mention the author and link back to the original article. The article cannot be changed in any way or used commercially. The second is the Creative Commons Attribution Noncommercial Share Alike 3.0 Unported Licence and allows readers to alter, transform, or build upon the article and then distribute the resulting work under the same or similar license to this one. The work must be attributed back to the original author and commercial use is not permitted. For further information please see the European Journal of Human Genetics Open FAQs and payment form.
Advance Online Publication
All original articles are published ahead of print on Advance Online Publication. This will be the final version of the manuscript and will subsequently appear, unchanged, in print.
Proofs An e-mail will be sent to the corresponding author with a URL link from where proofs can be collected. Proofs must be returned by fax within 48 hours of receipt. Failure to do so may result in a delay to publication. Extensive corrections cannot be made at this stage. Offprints Twenty-five offprints will be supplied free of charge to the principal author. Additional offprints may be ordered on the form accompanying the proofs. The charges are necessarily higher if orders for reprints are received after the issue has gone to press.
Business Matters To find out who to contact for business correspondence and enquiries such as advertising, subscriptions, permissions, papers in production or publishing a supplement, please visit our publisher’s contacts page. Alternatively, you can write to: European Journal of Human Genetics, Nature Publishing Group, The Macmillan Building, 4 Crinan Street, London, N1 9XW, UK. Please press HOME to continue. |
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