European Journal of Medical Genetics

European Journal of Medical Genetics
ISSN: 1769-7212
Imprint: ELSEVIER

Facts & Figures
Impact Factor: 2.335
5-Year Impact Factor: 2.121
Issues per year: 12

Guide for Authors





Types of paper



Submission
Type of manuscript
The following categories of articles can be proposed to European Journal of Medical Genetics:
  1. Editorial comments. These manuscripts are solicited by the Editors.
  2. Reviews. Authors are advised to discuss review proposals with the Editors before submitting it. There is no specific format for reviews.
  3. Clinical research. Results of original works on any aspects of Medical Genetics, including delineation of new syndromes, clinical reports of series of patients, reports on biochemical, genetic, genomic or cytogenetics data in relation with patients, and genetic epidemiology or association studies for genetic disorders and developmental anomalies. In clinical research articles, the experimental data are the support to clinical investigations. See template below.
  4. Experimental research. Results of experimental investigations related to medical genetics, such as cell biology and animal models of human disorders, technology-oriented research, bioinformatics research... In experimental research articles, the experimental data are the most important elements of the work. See template below.
  5. Genetic forum. The manuscripts of this section may address the practice of medical genetics, and all its correlates: ethics, social issues, organization, perspectives... There is no specific format for Genetic forum articles.
  6. Short Clinical Reports. These articles present significant new findings in the field of clinical genetics. Not including the title, list of authors, affiliations and figures, the manuscript must not exceed fifteen manuscript pages (600 lines) including legends, tables and a maximum of 25 references. Clinical reports of "new" syndromes of unknown etiology will only be accepted when results of molecular karyotyping (by CGH- or SNP-arrays) are provided. A specific template is found below.
  7. Chromosomal imbalance letters. A forum for reporting clinical data associated with novel chromosomal imbalances in a short format. Not including the title, list of authors, affiliations and figures, the manuscript must not exceed ten manuscript pages (400 lines) including legends, tables and a maximum of 5 references. A specific template is found below.
  8. Letters to the Editor. These letters are correspondence addressed to the Editor, commenting on the content of a previously published material. The manuscript has no headings. It must not exceed six manuscript pages (250 lines) and is limited to 5 references. There is no abstract.


For patient photos:
Recognizable facial pictures: the author MUST download this form (HERE) and submit it with their manuscript.

Protection of privacy and consent for identifiable facial pictures

If your submission contains ANY identifiable patient images or other protected health information, a written statement signed by the corresponding author and/or the first author MUST be provided, indicating that you have collected permission from the patient (or a patient's parent or guardian) for the material to be published unmasked. The statement must be supplied as supplementary material and uploaded with the submission. The consent form must be stored in author's files. It should be made available to Elsevier in case of complaints. In the absence of documented permission, the patient's identity must be protected by blocking out facial features appropriate to the submission. For further information see http://www.elsevier.com/patientphotographs.

Do not upload copies of the consents themselves to the web site.

General organization of a manuscript

EJMG manuscripts generally contain the following sections, in this order. The manuscript must be provided as one single wordprocessor document:
  1. Title page: it containts a concise title, the list of contributors, identification of each contributor's affiliation, a running title of no more than 45 characters including spaces, and the name and coordinates of the corresponding author
  2. Abstract
  3. Keywords
  4. Main Text: in articles, it is divided by several headings and subheadings:(see below for templates specific to each type of manuscript)
  5. Acknowledgments
  6. Web Resources (if any) : URLs of any web-based resource (e.g., database, online computer program, etc.) mentioned in the main text. URLs are never included in the main text.
  7. Accession numbers (if any)
  8. Figure Titles and Legends
  9. Tables (with a title and legend for each).
  10. References
  11. Supplemental data description (if any): a list of the titles of each file included submitted as Supplemental Data (this section do not include the supplemental data themselves).


Contact details for submission

Manuscripts should be submitted via the journals online submission page at external link http://ees.elsevier.com/ejmg/.
For general queries, please refer to the support web page at external link http://epsupport.elsevier.com.
For queries on the review process, please contact the Editor-in-Chief, Dr. Alain (A.) Verloes, at EJMG.editor@gmail.com.



Ethics in publishing

For information on Ethics in publishing and Ethical guidelines for journal publication see http://www.elsevier.com/publishingethics and http://www.elsevier.com/ethicalguidelines.

Conflict of interest

All authors are requested to disclose any actual or potential conflict of interest including any financial, personal or other relationships with other people or organizations within three years of beginning the submitted work that could inappropriately influence, or be perceived to influence, their work. See also http://www.elsevier.com/conflictsofinterest.

Submission declaration

Submission of an article implies that the work described has not been published previously (except in the form of an abstract or as part of a published lecture or academic thesis), that it is not under consideration for publication elsewhere, that its publication is approved by all authors and tacitly or explicitly by the responsible authorities where the work was carried out, and that, if accepted, it will not be published elsewhere including electronically in the same form, in English or in any other language, without the written consent of the copyright-holder.

Changes to authorship

This policy concerns the addition, deletion, or rearrangement of author names in the authorship of accepted manuscripts:
Before the accepted manuscript is published in an online issue: Requests to add or remove an author, or to rearrange the author names, must be sent to the Journal Manager from the corresponding author of the accepted manuscript and must include: (a) the reason the name should be added or removed, or the author names rearranged and (b) written confirmation (e-mail, fax, letter) from all authors that they agree with the addition, removal or rearrangement. In the case of addition or removal of authors, this includes confirmation from the author being added or removed. Requests that are not sent by the corresponding author will be forwarded by the Journal Manager to the corresponding author, who must follow the procedure as described above. Note that: (1) Journal Managers will inform the Journal Editors of any such requests and (2) publication of the accepted manuscript in an online issue is suspended until authorship has been agreed.
After the accepted manuscript is published in an online issue: Any requests to add, delete, or rearrange author names in an article published in an online issue will follow the same policies as noted above and result in a corrigendum.

Copyright

Upon acceptance of an article, authors will be asked to complete a 'Journal Publishing Agreement' (for more information on this and copyright see http://www.elsevier.com/copyright). Acceptance of the agreement will ensure the widest possible dissemination of information. An e-mail will be sent to the corresponding author confirming receipt of the manuscript together with a 'Journal Publishing Agreement' form or a link to the online version of this agreement.
Subscribers may reproduce tables of contents or prepare lists of articles including abstracts for internal circulation within their institutions. Permission of the Publisher is required for resale or distribution outside the institution and for all other derivative works, including compilations and translations (please consult http://www.elsevier.com/permissions). If excerpts from other copyrighted works are included, the author(s) must obtain written permission from the copyright owners and credit the source(s) in the article. Elsevier has preprinted forms for use by authors in these cases: please consult http://www.elsevier.com/permissions.

Retained author rights

As an author you (or your employer or institution) retain certain rights; for details you are referred to: http://www.elsevier.com/authorsrights.

Role of the funding source

You are requested to identify who provided financial support for the conduct of the research and/or preparation of the article and to briefly describe the role of the sponsor(s), if any, in study design; in the collection, analysis and interpretation of data; in the writing of the report; and in the decision to submit the article for publication. If the funding source(s) had no such involvement then this should be stated. Please see http://www.elsevier.com/funding.

Funding body agreements and policies

Elsevier has established agreements and developed policies to allow authors whose articles appear in journals published by Elsevier, to comply with potential manuscript archiving requirements as specified as conditions of their grant awards. To learn more about existing agreements and policies please visit http://www.elsevier.com/fundingbodies.

Open access

This journal offers you the option of making your article freely available to all via the ScienceDirect platform. To prevent any conflict of interest, you can only make this choice after receiving notification that your article has been accepted for publication. The fee of $3,000 excludes taxes and other potential author fees such as color charges. In some cases, institutions and funding bodies have entered into agreement with Elsevier to meet these fees on behalf of their authors. Details of these agreements are available at http://www.elsevier.com/fundingbodies. Authors of accepted articles, who wish to take advantage of this option, should complete and submit the order form (available at http://www.elsevier.com/locate/openaccessform.pdf). Whatever access option you choose, you retain many rights as an author, including the right to post a revised personal version of your article on your own website. More information can be found here: http://www.elsevier.com/authorsrights.

Language and language services

Please write your text in good English (American or British usage is accepted, but not a mixture of these). Authors who require information about language editing and copyediting services pre- and post-submission please visit external link http://webshop.elsevier.com/languageservices or our customer support site at external link http://support.elsevier.com for more information.

Patient details

Unless you have written permission from the patient (or, where applicable, the next of kin), the personal details of any patient included in any part of the article and in any supplementary materials (including all illustrations and videos) must be removed before submission. For further information see http://www.elsevier.com/patientphotographs.

Submission

Submission to this journal proceeds totally online and you will be guided stepwise through the creation and uploading of your files. The system automatically converts source files to a single PDF file of the article, which is used in the peer-review process. Please note that even though manuscript source files are converted to PDF files at submission for the review process, these source files are needed for further processing after acceptance. All correspondence, including notification of the Editor's decision and requests for revision, takes place by e-mail removing the need for a paper trail.

Referees

Please submit, with the manuscript, the names, addresses and e-mail addresses of three potential referees. Note that the editor retains the sole right to decide whether or not the suggested reviewers are used.



Use of wordprocessing software

It is important that the file be saved in the native format of the wordprocessor used. The text should be in single-column format. Keep the layout of the text as simple as possible. Most formatting codes will be removed and replaced on processing the article. In particular, do not use the wordprocessor's options to justify text or to hyphenate words. However, do use bold face, italics, subscripts, superscripts etc. When preparing tables, if you are using a table grid, use only one grid for each individual table and not a grid for each row. If no grid is used, use tabs, not spaces, to align columns. The electronic text should be prepared in a way very similar to that of conventional manuscripts (see also the Guide to Publishing with Elsevier: http://www.elsevier.com/guidepublication). Note that source files of figures, tables and text graphics will be required whether or not you embed your figures in the text. See also the section on Electronic artwork.

To avoid unnecessary errors you are strongly advised to use the 'spell-check' and 'grammar-check' functions of your wordprocessor.Please include line numbers in your manuscript for the benefit of reviewers. This option is available in most word processing software. Instructions for Microsoft word are available via this link.

Article structure

Ethical compliance for human and animal experimentation
For all manuscript involving prospective experimentation, the manuscript must confirm that the reported works performed on human subjects complies with standards established by an appropriate ethics review committee and that the research was prospectively reviewed and approved by an ad hoc committee.

Nomenclature
Authors will check for correct use of genetic symbols, use of accepted gene names (reference: HUGO nomenclature committee, external link http://www.genenames.org/), respect of cytogenetic nomenclature (reference: International System for Human Cytogenetic Nomenclature ISCN 2009) and mutation nomenclature (reference : Human Genome Variation Society, external link http://www.hgvs.org/).

All mutations should be described at both the DNA and the protein level (see: den Dunnen JT and Antonarakis SE. Mutation Nomenclature Extensions and Suggestions to Describe Complex Mutations: A Discussion, Hum.Mutat. 2000, 15: 7-12 - document downloadable at external link http://www.hgvs.org/mutnomen

Gene and protein symbols: human gene symbols are italicized, with all letters in uppercase (e.g., SHH, for sonic hedgehog) and follow the HUGO Gene Nomenclature Committee guidelines ((http://www.genenames.org/guidelines.html). Protein designations are not italicized and all letters are in uppercase (SHH). For other model organisms, refer to species-specific nomenclature standards. See Wain HM et al. Guidelines for Human Gene Nomenclature. Genomics 2002, 79:464- 470 or on the web (external link http://www.gene.ucl.ac.uk/nomenclature/guidelines.html).

Descriptive terminology for dysmorphology
If the manuscript reports specific morphological features of human subjects (craniofacial features, hands and/or feet), the authors have to use the recommendations published in 6 successive articles, in a special issue of the American Journal of Medical Genetics ("Elements of Morphology: Standard Terminology" . Am J Med Genet 2009, 149A (1) : 1-127). This issue is openly available at at external link http://elementsofmorphology.nih.gov/index.cgi.

Dissemination of information
For patients with rare/unreported chromosomal aberrations detected by array technologies, entering the patient data in one of the existing databases for chromosomal aberrations (for instance: Decipher - external link https://decipher.sanger.ac.uk/, or ECARUCA - external link http://agserver01.azn.nl:8080/ecaruca/ecaruca.jsp) is strongly recommended. Provide accession numbers for any new data (SNPs, gene sequences, protein sequences, copy number variants, microarray data, or structures) deposited in a genome- or locus-specific database in the text or, when they are numerous, in a separate section entitled "Accession Numbers" at the end of the manuscript.

Typographic rules
Manuscript are typed with 11 or 12 fonts, with double spaced lines. Pages must be numbered. Lines are not numbered (this will be done automatically when the pdf submission is created).

Headings and subheadings : use caps letters only when necessary (first letter of the title, first letter of family names, acronyms and other commonly accepted abbreviations. You may use bigger or bold font for readability.

Headings and subheadings are not numbered

Figures and Tables are consecutively numbered in Arabic numerals, following the order of appearance in the text, and should be referred to in the text by their number (Fig. 1; Table 1).

Style preferences: the preferred spelling for a word is its American usage. English usage is acceptable but must be consistent in the manuscript.

Units of measurement: all measurements should be in metric or other internationally accepted units. Leave a space between numbers and units (10 cm, not 10cm)

Abbreviations: a definition should be provided between brackets when unusual abbreviations are used.

Title

Concise and informative. Titles are often used in information-retrieval systems. Avoid abbreviations and formulae where possible.

Authors and affiliation
First forename is given in extenso, followed if necessary by the initials of other forenames, and by the family name. When there is more than one affiliation, the author's family name is followed by one or several superscript letters indicating their affiliation (John R. Doe a,b, …). Degrees or titles are not mentioned. The superscript letters do not have to be sequentially ordered, to allow more structured affiliation section (see next paragraph).

The affiliation of the first author(where the actual work was done) is always the first to appear (a superscript). To reduce localization redundancies, when several affiliations are mentioned, they can be grouped and ordered on a topographic basis and then numbered sequentially with superscript letters (exemple : aDepartments of genetics, and bobstetrics and ccytogenetics units, University Hospital HHH, City YYY ; Departments of dgenetics and epediatrics, Regional General Hospital XYZ, City ZZZ, [State or Region], Country AAA; etc. Each affiliation appears on a separate line. When successive lines refer to affiliations in the same city, or the same region/country, the city and the region/country are mentioned only in the last line.

Present/permanent address. If an author has moved since the work described in the article was done, or was visiting at the time, a 'Present address' (or 'Permanent address') may be indicated as a footnote to that author's name. The address at which the author actually did the work must be retained as the main, affiliation address. Superscript Arabic numerals are used for such footnotes.

Corresponding author . Clearly indicate who will handle correspondence at all stages of refereeing and publication, also post-publication. Ensure that telephone and fax numbers (with country and area code) are provided in addition to the e-mail address and the complete postal address. Contact details must be kept up to date by the corresponding author.

Abstract
The abstract presents the summary of the article. It is made of a single paragraph, and do not contain abbreviations (except for those of common and generalized use: CGH, PCR, DNA…). An abstract is often presented separately from the article, so it must be able to stand alone. For this reason, References should be avoided, but if essential, then cite the author(s) and year(s). Abstract should not not exceed 350 words. The authors must ensure that relevant key words are present in the abstract, as its content can be searched by PubMed and other reference softwares. The abstract should present the essential points made in the article, the purpose of the research, a coherent summary of the findings, and a concise presentation of the conclusions.

Keywords
Up to 6 keywords are given. They should reflect the central topic of the article. Key words should be typed on the page following the abstract and labeled as such. Since the key words will be used for indexing, they should be specific and avoid terms that may be broadly interpreted. Authors are strongly encouraged to use MeSH terms for indexing (external link http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=mesh). Use American spelling and avoid general and plural terms and multiple concepts (avoid, for example, 'and', 'of'). Be sparing with abbreviations: only abbreviations firmly established in the field may be eligible. These keywords will be used for indexing purposes.

Abbreviations
Define any abbreviations that are not standard in this field in the text, by putting abbreviation between brackets after the full terxt (example: …. In autism spectrum defect (ASD)... Noonan syndrome (NS)… ). Ensure consistency of abbreviations throughout the article.

Acknowledgements
Collate acknowledgements in a separate section at the end of the article before the references and do not, therefore, include them on the title page, as a footnote to the title or otherwise. List here those individuals who provided help during the research (e.g., providing language help, writing assistance or proof reading the article, etc.).

Math formulae
Present simple formulae in the line of normal text where possible and use the solidus (/) instead of a horizontal line for small fractional terms, e.g., X/Y. In principle, variables are to be presented in italics. Powers of e are often more conveniently denoted by exp. Number consecutively any equations that have to be displayed separately from the text (if referred to explicitly in the text).

Footnotes
Footnotes should be used sparingly. Number them consecutively throughout the article, using superscript Arabic numbers. Many wordprocessors build footnotes into the text, and this feature may be used. Should this not be the case, indicate the position of footnotes in the text and present the footnotes themselves separately at the end of the article. Do not include footnotes in the Reference list. Table footnotes Indicate each footnote in a table with a superscript lowercase letter.

Specific templates for the main text section

Although some manuscripts may escape the general recommendations that follow (after editor's acceptance), the manuscripts should follow the general templates presented below.

Template for Clinical and Experimental research articles
  1. Introduction. This section contains general informations about the topics addressed by the research. If a general review of the literature is necessary (discouraged in Short Reports), it should be set in the Introduction, in order to separate it clearly from the Discussion itself. Thee is no subheadings in the introduction.
  2. Patient Data / Material. Patient data heading is used to describe the human subjects under study. It can be subdived if necessary in several subheadings: ascertainment of patients, patient reports, family reports, patient 1, patient 2… The term "case report" is not accepted, and patient should not be identified by their initials or file number. Patients described in a manuscript should be regarded with sensitivity. Stigmatizing terms should be avoided. As often as possible, refer to pictures with relevant features. Facial dysmorphism is better illustrated by a picture than by an extensive description. For large series of patients, use Tables instead of text as often as possible. Keep only the most pertinent points in the main text, and avoid duplication in the main text of informations that are shown in the table.

    Material replaces the Patient Data section when the research is not focalized on direct observation human beings, but (for instance) on the analysis of large populations with no description of individuals (such as studies based on cohorts or registries), or experimental models
  3. Methods. This section describes procedures (in conjunction with appropriate references) in order to allow readers to understand how the experiments were performed, with sufficient details to allow all procedures to be repeated. This heading can be further subdivided according to manuscript specificities. Statistical methods deserve a specific paragraph, or a subheading. Widely used methods (such as DNA extraction, classic Sanger sequencing, conventional karyotyping or FISH techniques…) do not have to be described, except for the aspects that are specific to the addressed problem (for instance : type of an array, software parameters used for analysis, references of BACs used in a FISH experiment…).
  4. Results. The section may be divided with subheadings. As a rule, the results should not be commented or discussed in this section.
  5. Discussion. The discussion section should be focused on the discussion of the results, perspectives and hypotheses, and ends with a paragraph of conclusion. The section may be divided with subheadings. It should not be redundant with the Results section. Usually, a general introductive review of should not be presented in this section, but rather in the introduction.
  6. 7.,… Facultative sections: Acknowledgements, Accession numbers, etc.


Template for Short Reports
  1. Introduction (see Research article template)
  2. Clinical report. This heading is used to describe the human subjects under study and the results of the investigations. It can be subdived if necessary in several subheadings: 2.1. Patient 1, 2.2. Patient 2… Please provide sex, ethnicity, parental age, biometry at birth and gestational age, biometry at last investigation -with centiles and/or standard deviations. Only relevant (normal and abnormal) results needs reporting. The can be presented in a paragraph at the end of the clinical report, or below a separate subheading when several patients have the same anomaly. Widely used methods (such as DNA extraction, classic Sanger sequencing, conventional karyotyping…) are not described, except for the aspects that are specific to the addressed problem (for instance: type of an array, software parameters used for analysis, references of BACs used in a FISH experiment…).
  3. Discussion. (see Research article template) -
  4. 5.,… Facultative sections: Acknowledgements, Accession numbers, etc.
References are limited to 25.

Template for chromosomal imbalance letter
  1. Clinical description. Please provide sex, ethnicity, parental age, biometry at birth (and gestational age), biometry at last investigation - both with centiles and/or standard deviations, psychomotor development (if possible include IQ or DQ, with the test used and at what age), phenotype at last examination, current age.
  2. Methods. For Array-CGH give precise type of the array, the software used for analysis… The draft version of the genome used for reporting the anomalies must be given when the position of the nucleotide are given. End the section with the method of confirmation: FISH, microsatellite, MAPH, MLPA… and the results of family screening. Confirm the status of the region in DGV and/or DECIPHER databases (or another similar reference database of human genomic variants).
  3. Genomic rearrangement. For BACs, give the name and position of the probe (when interrupted), or the name and position of the 2 probes between which each chromosomal break occurred. For array technologies, give the positions in nt of the 2 flanking probes with the number of the genome draft used as reference. Precise minimal and maximal sizes and parental origin (if studied).
  4. Discussion. Do not repeat the phenotypic description but indicate most characteristic feature(s). Compare with previous report(s) on similar chromosomal imbalances… stressing on possible genotype/phenotype correlations. Candidate genes and may be discussed here. If necessary, the list of all genes present in the rearranged region can be added as a Supplementary Table.
  5. , 6.,… Facultative sections: Acknowledgements, Accession numbers, etc.
References. Maximum 5 references.

Artwork

FOR RECOGNIZABLE PICTURES OF PATIENTS: if you submit unblocked facial pictures, you MUST download a dedicated form (DOWNLOAD HERE), fill and sign it and submit a scanned copy. Select file type "Permit to publish" in the dropbox menu to upload the scan. Submissions with recognizable facial pictures missing the form will be returned to the author and will not enter the reviewing process. DO NOT UPLOAD the signed permits themselves: store them locally.

Electronic artwork
General points
• Make sure you use uniform lettering and sizing of your original artwork.
• Save text in illustrations as 'graphics' or enclose the font.
• Only use the following fonts in your illustrations: Arial, Courier, Times, Symbol.
• Number the illustrations according to their sequence in the text.
• Use a logical naming convention for your artwork files.
• Provide captions to illustrations separately.
• Produce images near to the desired size of the printed version.
• Submit each figure as a separate file.

A detailed guide on electronic artwork is available on our website:
http://www.elsevier.com/artworkinstructions
You are urged to visit this site; some excerpts from the detailed information are given here.
Formats
Regardless of the application used, when your electronic artwork is finalised, please 'save as' or convert the images to one of the following formats (note the resolution requirements for line drawings, halftones, and line/halftone combinations given below):
EPS: Vector drawings. Embed the font or save the text as 'graphics'.
TIFF: Color or grayscale photographs (halftones): always use a minimum of 300 dpi.
TIFF: Bitmapped line drawings: use a minimum of 1000 dpi.
TIFF: Combinations bitmapped line/half-tone (color or grayscale): a minimum of 500 dpi is required.
If your electronic artwork is created in a Microsoft Office application (Word, PowerPoint, Excel) then please supply 'as is'.
Please do not:
• Supply files that are optimised for screen use (e.g., GIF, BMP, PICT, WPG); the resolution is too low;
• Supply files that are too low in resolution;
• Submit graphics that are disproportionately large for the content.

Figure captions
The digital image files are entered separately from the manuscript text file in the web site (do NOT include the images with the manuscript text file). Image sizes for review purposes should be sufficient to allow reviewers to clearly see the elements of the figure. Color images and figures are strongly encouraged, as they are published online at no cost to the authors. Color images are placed against a white background wherever possible. For each figure, an individual high resolution digital files must be uploaded.

For figures that have multiple panels, the labels should be set in uppercase letters in Arial font, taking the scale reduction in account for the font size. Do not include separate panels on multiple pages. White or black arrows can be added on the pics for sake of clarity. Micrographs should be provided with a scale bar, if appropriate. Magnification can be added in the caption. Pedigrees should be drawn according to the published standards of Am J Human Genetics 1995 56:745-752)

Legend of figures. A caption should comprise a brief title (not on the figure itself) and a description of the illustration. Legends are presented on a separate page of the main text file. The legend should explain what is being illustrated without the need to refer back to the text. Authors should describe the abnormal findings illustrated by the figure and not mention only (for instance) "abnormal aspect of the X rays of patient 1". White or black arrows can be added on the pics for sake of clarity. If references are embedded within a figure, they must also be cited within the figure legend. Keep text in the illustrations themselves to a minimum but explain all symbols and abbreviations used.

Tables

Tables are self-explanatory and do not duplicate information present in the text. Each table must have a title. If necessary, place footnotes to tables below the table body and indicate them with superscript lowercase letters. Avoid vertical rules. Any symbols and abbreviations used in the table body must be defined in a footnote to the table. Each Table is presented on a separate page, followed by its legend

Legend of Tables. The legend should explain the Table without the need to refer back to the text.

References

Citation in text
Please ensure that every reference cited in the text is also present in the reference list (and vice versa). Any references cited in the abstract must be given in full. Unpublished results and personal communications are not recommended in the reference list, but may be mentioned in the text. If these references are included in the reference list they should follow the standard reference style of the journal and should include a substitution of the publication date with either 'Unpublished results' or 'Personal communication'. Citation of a reference as 'in press' implies that the item has been accepted for publication.

References in a special issue
Please ensure that the words 'this issue' are added to any references in the list (and any citations in the text) to other articles in the same Special Issue.

Reference management software
This journal has standard templates available in key reference management packages EndNote (external link http://www.endnote.com/support/enstyles.asp) and Reference Manager (external link http://refman.com/support/rmstyles.asp). Using plug-ins to wordprocessing packages, authors only need to select the appropriate journal template when preparing their article and the list of references and citations to these will be formatted according to the journal style which is described below.

  1. Text. References are numbered by order of appearance Indicate references by number(s) in square brackets in line with the text. For less than two 2 consecutive reference numbers, the first and the last numbers are mentioned, separated by a hyphen. In other cases, references are quoted in arithmetic order, separated by a colon (no space). The actual authors can be referred to in the text, but the reference number(s) must always be given.
Example:
"..... as demonstrated [1,4,9]. Confirmatory publications ... [8,10-13]. Barnaby and Jones [14,15] obtained a different result ...."

Bibliography list: The references are numbered in square brackets and listed by order of appearance in the text.

Bibliography is written using the recommendations of the International Committee of Medical Journal Editors (ICMJE). Cite a maximum of 12 authors per citation, If more than 12, use et al. after the 12th author. Journal names should be abbreviated according to: Examples:
Reference to a journal publication with continuous pagination per volume : [1] van der Geer J, Hanraads J, Lupton RA. The art of writing a scientific article. J Sci Commun. 2000; 163: 51-9.

Reference to a journal publication with pagination per issue : [2] Raeburn JA. Delivery of genetic screening services. Birth Defects Orig Artic Ser. 1992; 28(3): 60-7.

Reference to a journal pre-publication : [3] Lindhurst MJ, Sapp JC, Teer JK, Johnston JJ, Finn EM, Peters K, Turner J, Cannons JL, Bick D, Blakemore L, Blumhorst C, Brockmann K. A Mosaic Activating Mutation in AKT1 Associated with the Proteus Syndrome. N Engl J Med. 2011; Jul 27 [Epub ahead of print].

Reference to a book : [4] Strunk W Jr, White EB. The Elements of Style. 3d ed. New York: Macmillan. 1979; p. 123-32

Reference to a chapter in an edited book : [5] Mettam GR, Adams LB. How to prepare an electronic version of your article. In: Jones BS, Smith RZ, editors. Introduction to the Electronic Age. New York: E-Publishing Inc; 1999, p. 281-304.

Reference to a web site : [6] American Medical Association [Internet]. Accessed 2011 Aug 4. Available from: external link http://www.ama-assn.org/ama/pub/category/1736.html

Reference to a internet document : [7] Allanson JE, Roberts AE. Noonan Syndrome. In: Pagon RA, Bird TD, Dolan CR, Stephens K, editors. GeneReviews [Internet]. Accessed 2011 Aug 4. Available from: external link http://www.genetests.org.

Further examples can be found on the ICMJE website (external link http://www.nlm.nih.gov/bsd/uniform_requirements.html).

Video data

Elsevier accepts video material and animation sequences to support and enhance your scientific research. Authors who have video or animation files that they wish to submit with their article are strongly encouraged to include these within the body of the article. This can be done in the same way as a figure or table by referring to the video or animation content and noting in the body text where it should be placed. All submitted files should be properly labeled so that they directly relate to the video file's content. In order to ensure that your video or animation material is directly usable, please provide the files in one of our recommended file formats with a preferred maximum size of 50 MB. Video and animation files supplied will be published online in the electronic version of your article in Elsevier Web products, including ScienceDirect: external link http://www.sciencedirect.com. Please supply 'stills' with your files: you can choose any frame from the video or animation or make a separate image. These will be used instead of standard icons and will personalize the link to your video data. For more detailed instructions please visit our video instruction pages at http://www.elsevier.com/artworkinstructions. Note: since video and animation cannot be embedded in the print version of the journal, please provide text for both the electronic and the print version for the portions of the article that refer to this content.

Supplementary data

Elsevier accepts electronic supplementary material to support and enhance your scientific research. Supplementary files offer the author additional possibilities to publish supporting applications, high-resolution images, background datasets, sound clips and more. Supplementary files supplied will be published online alongside the electronic version of your article in Elsevier Web products, including ScienceDirect: external link http://www.sciencedirect.com. In order to ensure that your submitted material is directly usable, please provide the data in one of our recommended file formats. Authors should submit the material in electronic format together with the article and supply a concise and descriptive caption for each file. For more detailed instructions please visit our artwork instruction pages at http://www.elsevier.com/artworkinstructions.

Full Online Submission

The following list will be useful during the final checking of an article prior to sending it to the journal for review. Please consult this Guide for Authors for further details of any item.
Ensure that the following items are present:
One Author designated as corresponding Author:
• E-mail address
• Full postal address
• Telephone and fax numbers
All necessary files have been uploaded
• Keywords
• All figure captions
• All tables (including title, description, footnotes)
Further considerations
• Manuscript has been "spellchecked" and "grammar-checked"
• References are in the correct format for this journal
• All references mentioned in the Reference list are cited in the text, and vice versa
• Permission has been obtained for use of copyrighted material from other sources (including the Web)
• Color figures are clearly marked as being intended for color reproduction on the Web (free of charge) and in print or to be reproduced in color on the Web (free of charge) and in black-and-white in print
• Patient figures must have the accompanying permission form.
• If only color on the Web is required, black and white versions of the figures are also supplied for printing purposes
For any further information please visit our customer support site at external link http://support.elsevier.com.



Use of the Digital Object Identifier

The Digital Object Identifier (DOI) may be used to cite and link to electronic documents. The DOI consists of a unique alpha-numeric character string which is assigned to a document by the publisher upon the initial electronic publication. The assigned DOI never changes. Therefore, it is an ideal medium for citing a document, particularly 'Articles in press' because they have not yet received their full bibliographic information. The correct format for citing a DOI is shown as follows (example taken from a document in the journal Physics Letters B):
doi:10.1016/j.physletb.2010.09.059
When you use the DOI to create URL hyperlinks to documents on the web, the DOIs are guaranteed never to change.

Proofs

One set of page proofs (as PDF files) will be sent by e-mail to the corresponding author (if we do not have an e-mail address then paper proofs will be sent by post) or, a link will be provided in the e-mail so that authors can download the files themselves. Elsevier now provides authors with PDF proofs which can be annotated; for this you will need to download Adobe Reader version 7 (or higher) available free from external link http://get.adobe.com/reader. Instructions on how to annotate PDF files will accompany the proofs (also given online). The exact system requirements are given at the Adobe site: external link http://www.adobe.com/products/reader/tech-specs.html.
If you do not wish to use the PDF annotations function, you may list the corrections (including replies to the Query Form) and return them to Elsevier in an e-mail. Please list your corrections quoting line number. If, for any reason, this is not possible, then mark the corrections and any other comments (including replies to the Query Form) on a printout of your proof and return by fax, or scan the pages and e-mail, or by post. Please use this proof only for checking the typesetting, editing, completeness and correctness of the text, tables and figures. Significant changes to the article as accepted for publication will only be considered at this stage with permission from the Editor. We will do everything possible to get your article published quickly and accurately – please let us have all your corrections within 48 hours. It is important to ensure that all corrections are sent back to us in one communication: please check carefully before replying, as inclusion of any subsequent corrections cannot be guaranteed. Proofreading is solely your responsibility. Note that Elsevier may proceed with the publication of your article if no response is received.

Offprints

The corresponding author, at no cost, will be provided with a PDF file of the article via e-mail. For an extra charge, paper offprints can be ordered via the offprint order form which is sent once the article is accepted for publication. The PDF file is a watermarked version of the published article and includes a cover sheet with the journal cover image and a disclaimer outlining the terms and conditions of use.



For inquiries relating to the submission of articles (including electronic submission) please visit this journal's homepage. Contact details for questions arising after acceptance of an article, especially those relating to proofs, will be provided by the publisher. You can track accepted articles at http://www.elsevier.com/trackarticle. You can also check our Author FAQs (http://www.elsevier.com/authorFAQ) and/or contact Customer Support via external link http://support.elsevier.com.



All journal information and instructions compiled in one document (PDF) in just one mouse-click   Author Information Pack  
 
  

Printer-friendly version   Printer-friendly version