American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Cover image for Vol. 175 Issue 2

Edited By: John C. Carey

Impact Factor: 5.6

ISI Journal Citation Reports © Ranking: 2016: 18/166 (Genetics & Heredity)

Online ISSN: 1552-4876

Associated Title(s): American Journal of Medical Genetics Part A, American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Author Guidelines

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Publication Forms

Author Guidelines

Seminars in Medical Genetics


Seminars in Medical Genetics is published quarterly as a part of the American Journal of Medical Genetics . Each issue reviews a thematic topic and is organized by a Guest Editor consisting of review articles and other article types as appropriate. Publication in Seminars in Medical Genetics is by invitation only. If you have a topic you feel would be suitable as an issue of Seminars , please contact the Editor for further information.

Manuscript Categories

Solicited manuscripts include Reviews, Articles and Tutorials.

Manuscript Submissions

Manuscripts should be submitted solely to this JOURNAL and may not have been published in any substantial form in another periodical-professional or lay. Authors must submit a cover letter, in a separate file, stating that all contributors have read and approved the submission to the JOURNAL. Submission of a paper by a student, fellow, house-officer, or other kind of trainee implies that the first author has obtained, if necessary local approval of submission.

If applicable, the guest editor should receive assurance that work performed on human subjects complies with standards established by the Institutional Review Board and the granting agency. If photos or any other identifiable data are included, a copy of the signed consent MUST accompany the manuscript.


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.

For authors signing the copyright transfer agreement:
If the OnlineOpen option is not selected the corresponding author will be presented with the copyright transfer agreement (CTA) to sign. The terms and conditions of the CTA can be previewed in the samples associated with the Copyright FAQs below:
CTA Terms and Conditions

For authors choosing OnlineOpen: If the OnlineOpen option is selected the corresponding author will have a choice of the following Creative Commons License Open Access Agreements (OAA):
Creative Commons Attribution Non-Commercial License OAA
Creative Commons Attribution Non-Commercial -NoDerivs License OAA

To preview the terms and conditions of these open access agreements please visit the Copyright FAQs hosted on Wiley Author Services and visit

If you select the OnlineOpen option and your research is funded by The Wellcome Trust and members of the Research Councils UK (RCUK) you will be given the opportunity to publish your article under a CC-BY license supporting you in complying with Wellcome Trust and Research Councils UK requirements. For more information on this policy and the Journal’s compliant self-archiving policy please visit:

For RCUK and Wellcome Trust authors click on the link below to preview the terms and conditions of this license:
Creative Commons Attribution License OAA

To preview the terms and conditions of these open access agreements please visit the Copyright FAQs hosted on Wiley Author Services and visit

Seminars in Medical Genetics is a member of, and subscribes to the principles of, the Committee on Publication Ethics (COPE) (

Authors in Japan please note: Wiley-Japan can provide authors in Japan with a list of recommended services so they may copyedit and correct English grammar in their papers BEFORE submission. Please visit the website

Authors in China please note: Authors in China can visit the Author Resources site on for additional resources, including tips for English writing skills, and bilingual, short presentations on different topics of interest.

Conflict of Interest Disclosure

Wiley-Blackwell 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 indirectly 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 to collectively list in the cover letter to the Editor-in-Chief, in the manuscript (under the Acknowledgments section), and in the online submission system ALL pertinent commercial and other relationships.

Manuscript Review

The Guest Editor(s) will review all manuscripts submitted for inclusion in an issue of Seminars in Medical Genetics . Two or more anonymous reviewers will be requested to evaluate each manuscript. Authors may request additional reviews and will be asked to revise the manuscript in response to the reviewers’ and editors’ critique.

Before publication, all manuscripts will be copyedited for style, grammar, and content. The author will review such editing of the manuscript in page proofs. Authors are responsible for verification of references against original sources.

Authors in Japan please note: Wiley-Japan can provide authors in Japan with a list of recommended services to check and improve the English of their papers before submission. Please visit for more information.

Authors in China please note: Authors in China can visit the Author Resources site on for additional resources, including tips for English writing skills, and bilingual, short presentations on different topics of interest.

On-line submission & review. The JOURNAL requires online submission and peer-review of articles. Any exceptions to the submission procedure must be approved by the editorial office. Authors should upload their manuscripts (including images, tables, references, etc) and all editorial correspondence at the JOURNAL website:

Guidelines for Cover Submissions

If you would like to send suggestions for artwork related to your manuscript to be considered to appear on the cover of the journal, please follow these general guidelines

Checklist for Authors

Title Page. The title page carries a concise title, the names of the authors (without degrees or titles), identification of each author's specific affiliation, a brief 2 -3 sentence bio (as described above), a running title of no more than 45 characters, and the name, complete address, and telephone, fax and email information for the contact person assuming responsibility for all correspondence and questions relating to the article. If the contact person moves from the place of his/her original affiliation, he/she should notify the Guest Editor, Editorial Office for the journal and publisher.

Abstract. The abstract (page 2 of MS) should be a succinct condensation of the contents of the article and not exceed 250 words. 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. It should contain nothing that is not in the article.

Key Words. The key words should reflect the central topic of the article. Key words should be typed on the page carrying the abstract. Since the key words will be used for indexing, they should be specific and avoid terms that are nonspecific or that may be broadly interpreted.

Text. Articles unless otherwise indicated by the Guest Editor, manuscripts should be approximately 15 double spaced pages including references, figures and tables. Hints on style in scientific writing are presented in a paper by Steve Aronson [Current Contents 20/2:6-15, 1977]. In addition to standard dictionaries and grammar text, E. B. White's edition of Strunk's Elements of Style (3rd edition) [NYC: Macmillan Company, 1979] is a valuable guide.

The use of subheads and paragraph titles to delineate concept sections of the text is encouraged. You may also identify 3-5 "call out" quotes (i.e. sentences that stand out thematically and will be enlarged in the final layout) using bold or underlined text. Call-out quotes should contain no more than 12-15 words. The last element of the text before the References is the Acknowledgments.

Initial definitions should be provided for unusual abbreviations. Units of measurement should be abbreviated according to the Style Manual for Biological Journals , American Institute for Biological Sciences, 1401 Wilson Boulevard, Arlington, VA 22209. All measurements should be in metric units or other internationally accepted units.

Authors should use the approved list of pedigree symbols and instructions presented in the "Instructions to Contributors" for American Journal of Medical Genetics . Caution should be exercised in using the unmarried/illegitimate dashed lines and in identifying such offspring in pedigrees.


Discursive comments of a subsidiary nature should not be included in the reference list but should appear as footnotes placed at the bottom of the page and identified by an asterisk, a dagger, etc. References should be made to original publications and not to reviews, unless a general topic is referred to. References should be verified against original publications and not against citations by others. Persons acknowledged or cited under "personal communications" must send signed permission for use of their name and/or data. References should be cited by author and year of publication in the text and in alphabetical order in the bibliography without numbering. References should be double spaced. Abbreviations used in the reference list of journals should conform to the style of Index Medicus .

The following guides are advocated for reference styles:

Chitayat D, Hodgkinson, KA, Ginsburg O, Dimmick J, Watters GV. 1992. King syndrome: a genetically heterogeneous phenotype due to congenital myopathies. Am J Med Genet 43:954-956.

Wilkins AS. 1993. Genetic analysis of animal development. New York: Wiley-Liss. 1223 p.

Chapter in Book:
Whyte MP. 1993. Osteoperosis and the heritable forms of rickets. In: Royce PM, Steinmann B, editors. Connective tissue and its heritable disorders. New York: Wiley-Liss. p 563-589.

References to government publications should include the department, bureau or office, title, location of the publisher, year, pages cited, and the publication series, report, or monograph.

Figure Legends. The Figure Legends should be included beneath the References section. Legends need not be complete sentences but should enable the reader to identify the components of the figure without referring back to the text. Explain abbreviations that appear on the figure. Identify all elements of every figure using descriptive phrases, especially elements of pedigrees.

If the figure presents labeling alphabetics (a, b, c), the legend should be typed to reflect the exact presentation of those alphabetics. Table heads should be typed on the tables and not provided as separate table legends.

Illustrations. Scholar One Manuscripts allows the uploading of digital image files. These are entered separately from the manuscript text file (do NOT include the images with the manuscript text file). PostScript (.eps) and TIFF (.tif) files are the only acceptable formats that can be used. Image sizes for review purposes should be sufficient to allow reviewers to clearly see the elements of the figure, but should not be excessively large (recall that some reviewers may download a file via modem.)

All color figures will be reproduced in full color in the online edition of the journal at no cost to the authors. Authors are requested to pay the cost of reproducing color figures in print (upon acceptance of the manuscript, the publisher will provide price quotes). Authors are requested to indicate in a cover letter when they are submitting black and white figures for the print edition and color illustrations for the online edition. Figures that print in b/w but appear online in color should have the following line at the end of the legend: [Color figure can be viewed in the online issue, which is available at] Authors are encouraged to submit color illustrations that highlight the text and convey essential scientific information. For best reproduction, bright, clear colors should be used. Dark colors against a dark background do not reproduce well; please place your color images against a white background wherever possible

Authors who wish to publish in Seminars in Medical Genetics figures, tables, etc. taken from previously published sources must obtain appropriate permissions for the reuse of such material.

Tables. Tables must be self-explanatory and must not duplicate information in the text. Each table must have a title and should be numbered with Roman numerals in order of appearance in the text. Tables are the penultimate part of the MS, and follow the references but precede the legends. Any symbols and abbreviations used in the table must be defined in a footnote to the table.

Linking to Databases. Authors may submit genetic and protein database information with their manuscript for the databases listed below and a hypertext link will appear in the online version of the article.
The databases listed below allow hypertext links to records in the database. Authors may submit genetic and protein database information with their manuscript for these databases and a hypertext link will appear in the online version of the article.

The Genome Database (GDB)
Protein Databank (PDB)
Online Mendelian Inheritance in Man (OMIM)
Molecular Modeling Database (MMDB)
Entrez Genomes
Entrez Proteins
European Molecular Biology Laboratory (EMBL)

Electronic Proofing

To expedite our publication schedule, page proofs are available in .pdf format. Files in this format are viewed using Adobe Acrobat Reader, which is available as a free download at Page proofs will be available for review (this usually takes about three weeks from receipt at Wiley). You will receive information about file access (via ftp or Internet browser) directly from the typesetters. Proof corrections should be returned immediately by fax, e-mail, or express mail to Christopher Sannella, c/o John Wiley &Sons, Inc., 111 River St., Mail Stop 8-02, Hoboken, NJ 07030. FAX: 201-748- 6281; E-mail:

Guidelines for Electronic Submission


Software and format . Microsoft Word .doc or .docx files are preferred, although manuscripts prepared with any other microcomputer word processor are acceptable. Refrain from complex formatting; the Publisher will style your manuscript according to the Journal design specifications. Do not use desktop publishing software such as Aldus PageMaker or Quark XPress. If you prepared your manuscript with one of these programs, export the text to a word processing format. Please make sure your word processing program's "fast save" feature is turned off. Please do not deliver files that contain hidden text: for example, do not use your word processor's automated features to create footnotes or reference lists.

File names. Submit the text and tables of each manuscript as a single file. Name each file with your last name (up to eight letters).

Color Illustrations
All print reproduction requires files for full color images to be in a CMYK color space. If possible, ICC or ColorSync profiles of your output device should accompany all digital image submissions.

Software and format . All color illustration files should be in TIFF or EPS (with preview) formats. Do not submit native application formats.

Resolution . Journal quality reproduction will require greyscale and color files at resolutions yielding approximately 300 ppi. Bitmapped line art should be submitted at resolutions yielding 600-1200 ppi. These resolutions refer to the output size of the file; if you anticipate that your images will be enlarged or reduced, resolutions should be adjusted accordingly.

Reprints: Reprints may be purchased at

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Diane Grube
American Journal of Medical Genetics