You have full text access to this Open Access content

Molecular Genetics & Genomic Medicine

Each article is made available under the terms of the Creative Commons Attribution License

Cover image for Vol. 4 Issue 6

Editor-in-Chief: Maximilian Muenke, M.D., Deputy Editor: Suzanne Hart, Ph.D.

Online ISSN: 2324-9269

Author Guidelines

Search Engine Optimization for Your Paper
Consult our SEO Tips for Authors page in order to maximize online discoverability for your published research. Included are tips for making your title and abstract SEO-friendly, choosing appropriate keywords, and promoting your research through social media.

Author Guidelines

Molecular Genetics & Genomic Medicine steps to publication

1. Submit or confirm your submission at
2. We will send you an email confirmation of your submission details.
3. After review and acceptance, you will be prompted to sign the Open Access Agreement form. P
ayment of the article publication charge will be required. You can then track the progress of your article through Wiley Author Services.
4. You will receive notification that your proof is ready for review, and be able to make corrections to your article using e-annotation tools for electronic proof correction.
5. Your article will publish on Wiley Online Library. If you have previously signed up for alerts through Wiley’s Author Services, you will be sent an email when your article is published online.

The open access agreement is administered electronically. If your paper is accepted, the author identified as the formal corresponding author for the paper will receive an email prompting them to login into Author Services; where via the Wiley Author Licensing Service (WALS) they will be able to complete the license agreement on behalf of all authors on the paper. You may preview the copyright terms and conditions here.

Under the NIH public access policy, the final article will be deposited by Wiley into PubMed Central, with no embargo, and the article can also be deposited into other non-commercial subject or institutional repositories.

Maximilian Muenke, M.D.

P. Suzanne Hart, Ph.D.

Address correspondence to the Editorial Office:

The Journal requires that authors submit electronically via the online submission site at


  • Original research articles  
  • Case reports
  • Reviews
  • Methods papers
  • Editorials
  • Commentaries


Manuscripts must be submitted in grammatically correct English. Manuscripts that do not meet this standard cannot be reviewed. Authors for whom English is a second language may wish to consult an English-speaking colleague or consider having their manuscript professionally edited before submission to improve the English. A list of independent suppliers of editing services can be found at All services are paid for and arranged by the author, and use of one of these services does not guarantee acceptance or preference for publication. A manuscript is considered for review and possible publication on the condition that it is submitted solely to Molecular Genetics and Genomic Medicine, and that the manuscript or a substantial portion of it is not under consideration elsewhere.


Manuscript wording and terminology should reflect the Journal’s preferred criteria in describing and referring to human beings. Individuals described within a manuscript should be regarded with sensitivity. They should be referred to as patients rather than cases or as having a condition rather than being simply labeled by a specific terminology. Consider and avoid any stigmatizing terms, such as simian. If it is necessary to identify an individual, use a numerical designation (e.g. Patient 1) rather than using any other identifying notations such as initials. Phenotypic descriptors should be standardized as much as possible and follow these guidelines from the Elements of Morphology project:


Please include a statement confirming that your study was approved by an ethics committee as the first sentence of your Methods section, under the subheading, “Ethical Compliance”.


Molecular Genetics & Genomic Medicine requires that all appropriate steps be taken in obtaining informed consent of any and all human and/or experimental animal subjects participating in the research comprising the manuscript submitted for review and possible publication, and a statement to this effect must be included in the Methods section of the manuscript, under the subheading, "Ethical Compliance". Identifying information should not be included in the manuscript unless the information is essential for scientific purposes and the study participants or patients (or parents or guardians) give written informed consent for publication.


A statement indicating that the protocol and procedures employed were reviewed and approved by the appropriate institutional review committee must be included in the Methods section of the manuscript, under the subheading, "Ethical Compliance". When reporting experiments on human subjects, authors should indicate whether the procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2008. When reporting experiments on animals, authors should indicate whether the institutional and national guide for the care and use of laboratory animals was followed. For research involving recombinant DNA, containment facilities and guidelines should conform to those of the National Institutes of Health or corresponding institutions. For those investigators who do not have formal ethics review committees, the principles outlined in the Helsinki Declaration should be followed. If doubt exists whether the research was conducted in accordance with the Helsinki Declaration, the authors must explain the rationale for their approach and demonstrate that the institutional review body explicitly approved the doubtful aspects of the study.


Molecular Genetics & Genomic Medicine requires that all authors disclose any potential sources of conflict of interest. Any interest or relationship, financial or otherwise, that might be perceived as influencing an author's objectivity is considered a potential source of conflict of interest. These must be disclosed when directly relevant or directly related to the work that the authors describe in their manuscript. Potential sources of conflict of interest include, but are not limited to, patent or stock ownership, membership of a company board of directors, membership of an advisory board or committee for a company, and consultancy for or receipt of speaker's fees from a company. The existence of a conflict of interest does not preclude publication in this journal.

If the authors have no conflict of interest to declare, they must also state this at submission. It is the responsibility of the corresponding author to review this policy with all authors and collectively to list on the cover letter to the Editor-in-Chief, in the manuscript (under the Acknowledgements section), and in the online submission system ALL pertinent commercial and other relationships.

The above policies are in accordance with the Uniform Requirements for Manuscripts Submitted to Biomedical Journals produced by the International Committee of Medical Journal Editors (


We place very few restrictions on the way in which you prepare your article, and it is not necessary to try to replicate the layout of the journal in your submission. We ask only that you consider your reviewers by supplying your manuscript in a clear, generic and readable layout, and ensure that all relevant sections are included. Our production process will take care of all aspects of formatting and style. The list below can be used as a checklist to ensure that the manuscript has all the information necessary for successful publication.

  • Title page, including title, authors’ names, authors’ affiliations, and contact information*
  • Structured Abstract and 4–6 key words
    • Please include a Structured Abstract with the following subheadings: Background, Methods, Results, Conclusion.
    • The key words should be beneath the Structured Abstract.
  • Text (introduction, materials and methods, results, discussion)
  • Literature cited (see below for tips on references)
  • Tables (may be sent as a separate file if necessary)
  • Figure legends
  • Acknowledgements, including details of funding bodies with grant numbers

*You will be asked to provide the full address information for the corresponding author. Please be sure to do this, as the processing of your manuscript may be delayed without complete address information for the corresponding author.

Also, for the benefit of the reviewers and editors, please include line numbers in your main text files. To add line numbers using Microsoft Word, please click on Page Layout and from there, go to Page Setup. In Page Setup, click on Line Numbers and then select "Restart Each Page".


Please visit the Author Resources site on for additional resources and bilingual, short presentations on different topics of interest.


Molecular Genetics & Genomic Medicine supports the recommendations of the Human Variome Project (Cotton RGH et al., Nat Genet. 39: 433, 2007; Consequently, authors are required to submit all variants included in an article to the respective Locus Specific Database (LSDB) prior to acceptance. Authors must confirm the status of database submission in their cover letter. In addition, authors should note in the manuscript (e.g., in the methods section) the LSDB(s) to which they have submitted their variants and provide the URL. The Editors also encourage the use of widely accessible genetics databases as repositories for human gene mapping information, including loci (genes, fragile sites, DNA segments), and probes. In the case of dbSNP, the identification numbers should be used, if available, to describe the SNPs in the manuscript. Further information, including updates on links to Locus-Specific Databases, can be obtained from the Human Genome Variation Society (HGVS) web site

Microarray data should be MIAME compliant (for guidelines see



Because of the importance of the issue and the overall consensus on the rules, Molecular Genetics & Genomic Medicine is adopting an editorial policy that requires absolute compliance with the rules to describe sequence variants before manuscripts will be accepted and published. The most current guidelines are summarized on the Mutation Nomenclature Homepage at the HGVS website ( Examples of acceptable nomenclature are also provided. Important considerations include:

·         Variants should be described in the text and tables using both DNA and protein designations whenever appropriate.

·         If alternative nomenclature schemes are commonly found in the literature, they may also be used in addition to approved nomenclature, but they must be defined clearly.

·         Variants may be described using dbSNP identifiers (e.g., rs123456:A>G).

·         Authors should always include the GenBank Accession Number of the relevant wild-type gene sequence(s), with version number (e.g.: RefSeq NM_123456.3 or GenBank U654321.1), in the Materials and Methods section and as a footnote in tables listing mutations.

·         When describing new variants an electropherogram must be provided even if only in a supplemental figure or for review only.

Acceptance and/or publication may be delayed if authors are unable to follow the guidelines properly. Authors are advised to check sequence variant descriptions using the Mutalyzer program ( ; Wildeman et al., Hum Mutat 29:6-13, 2008). Using batch mode, all variants can be analyzed at once. Recently, an update to the mutation nomenclature was published regarding complex rearrangements (Taschner and den Dunnen, Hum Mutat 32:507-511, 2011). . Visit for the latest nomenclature updates or if you have further questions.



All manuscripts must include (when available) HGNC-approved gene symbols and OMIM database reference numbers (visit their new website at for genes and/or disorders. Approved human gene symbols should be obtained prior to submission from the HUGO Gene Nomenclature Committee (HGNC), at  or by email to In addition, commonly used alternative gene and disease symbols may also be used in the abstract (180–200 words) and key words. Note: OMIM entries now clearly indicate the most current HGNC-approved gene symbol, but it may not be listed in the main title.



Molecular Genetics & Genomic Medicine strongly prefers to publish unmasked patient photos. We encourage all prospective authors to work with families prior to submission to address the issue of permission for review and possible publication of patient images. If your submission contains ANY identifiable patient images or other protected health information, you MUST provide documented permission from the patient (or the patient’s parent, guardian, or legal representative) before the specific material will be circulated among Molecular Genetics & Genomic Medicine editors, reviewers and staff for the purpose of possible publication in MGGM. The documented permission may be supplied as supplemental material uploaded with the submission or faxed to the editorial offices at 801-587- 6609. While the manuscript will be processed upon submission, anything considered protected health information will be restricted from access prior to the receipt of documented permission. We caution you that the absence of material or cited figures may adversely impact the manuscript in the review process. The submission of masked photos without sufficient deidentification (i.e., facial photographs with small dark geometric shapes over the eyes) is strongly discouraged.


As with the main body of text, the completeness and content of your reference list is more important than the format chosen. A clear and consistent, generic style will assist the accuracy of our production processes and produce the highest quality published work, but it is not necessary to try to replicate the journal’s own style, which is applied during the production process. If you use bibliographic software to generate your reference list, select a standard output style, and check that it produces full and comprehensive reference listings. A guide to the minimum elements required for successful reference linking appears below. The final journal output will use the ‘Harvard’ style of reference citation. If your manuscript has already been prepared using the ‘Vancouver’ system, we are quite happy to receive it in this form. We will perform the conversion from one system to the other during the production process.


Journal Article
Author(s) in full
Year of publication
Article title
Journal title (preferably not abbreviated)
Volume number
Issue number
Page range

Author(s) in full
Year of publication
Book title
Place of publication
No. Pages

Book Chapter
Author(s) in full
Year of publication
Chapter title
Book Author/Editor
Book title
Place of publication
Page range


References to online research articles should always include a DOI, where available. When referring to other Web pages, it is useful to include a date on which the resource was accessed.


All tables must be cited in the text in the order that they should appear.


All figures must be cited in the text in the order that they should appear. Illustrations are an important medium through which to convey the meaning in your article, and there is no substitute for preparing these to the highest possible standard. Therefore, please create your illustrations carefully with reference to our graphics guidelines (see It is very difficult to improve an image that has been saved or created in an inappropriate format. We realize that not everyone has access to high-end graphics software, so the following information may help if you are having difficulty in deciding how to get the best out of the tools at your disposal.

1. Check your software options to see if you can ‘save as’ or ‘export’ using one of the robust, industry-standard formats. These are:

  • Encapsulated PostScript (EPS)
  • Tagged Image File Format (TIFF)
  • Portable Network Graphics (PNG)
  • Portable Document Format (PDF)

2. As a general rule of thumb, images that contain text and line art (graphs, charts, maps, etc.) will reproduce best if saved as EPS or PDF. If you choose this option, it is important to remember to embed fonts. This ensures that any text reproduces exactly as you intend.

3. Images that contain photographic information are best saved as TIFF or PNG, as this ensures that all data are included in the file. JPEG (Joint Photographic Experts Group) should be avoided if possible, as information is lost during compression; however, it is acceptable for purely photographic subjects if the image was generated as a JPEG from the outset (many digital cameras, for example, output only in JPEG format).

4. If you are not sure which format would be the best option, it is always best to default to EPS or PDF as these are more likely to preserve the high-quality characteristics of the original.

5. Microsoft Office. If you have generated your images in Microsoft Office software (Word, Excel, PowerPoint), or similar, it is often best simply to send us the files in their native file formats.

6. Please ensure all images are a minimum of 600 dpi.


The metric system should be used for all measurements, weights, etc. Temperatures should be expressed in degrees Celsius (centigrade).


Authors are encouraged to submit Supporting Information that could aid readers in understanding the authors' findings. This may include (but is not limited to) additional figures, tables, video clips, movies and animations (QuickTime, mpeg, SWF), data sets, and program code. Supporting Information must be submitted at the time of peer review, although the reviewers and editors may also suggest that figures or tables be provided as Supporting Information during the review process. Supporting Information should be numbered in order, but independently of figures in the main article (e.g., Supp. Figure S1, Supp. Table S1). Please note that supplementary material is not edited by the publisher after final acceptance by the editors, and is posted online in the format in which it is supplied.


The Editor-in-Chief or Deputy Editor will evaluate all manuscripts submitted to Molecular Genetics & Genomic Medicine for suitability with the Aims and Scope, as well as the quality of the science, appropriateness, and perceived impact. For those manuscripts judged to be suitable, anonymous peer reviewers (most commonly two) will evaluate each manuscript.

In the event that a manuscript has been referred from another journal along with comments from previous referees/editors, the Editor-in-Chief and Deputy Editor will take the previous reviews into account when making their decision. In some cases, the editors may choose to take advice from additional referees.


Authors are required to suggest at least 3 names of appropriate peer reviewers and their email addresses. Authors are encouraged to also list any individuals they wish to exclude from manuscript review, most commonly because of conflicts of interest. The editors reserve the right to accept or decline these requests.



A paper judged to be of sufficient interest and quality, but needing changes prior to publication, will be revised by the authors in response to the reviewers’ and editor’s critiques. When submitting the revised manuscript, specify in a point-by-point fashion each criticism/comment from the editor(s) and peer reviewers with the appropriate author response, especially if you disagree. Provide this information as instructed on the submission web site.


CrossCheck is a multi-publisher initiative to screen published and submitted content for originality. Molecular Genetics & Genomic Medicine uses iThenticate software to detect instances of overlapping and similar text in submitted manuscripts. To find out more about CrossCheck visit


Soon after acceptance, you will receive an email alert containing a link to a web site to access your proofs for final content correction within our rapid production workflow. Further instructions will be sent with the proof. Once you have submitted your corrections, the production office will finalize the layout of your article for publication.


As this is an open access journal, you have free, unlimited access to your article online. However, if you wish to obtain printed reprints, these may be ordered online:


Please direct any questions regarding the production of your article to the Production Editor at