Journal of Pediatric Genetics
Thank you for contributing to Journal of Pediatric Genetics.
Please read the instructions carefully and observe all the directions given. Failure to do so may result in unnecessary delays in publishing your article.
All manuscripts must be submitted at the following link:
All authors: Full name, degrees, department, affiliation, e-mail address
Corresponding author: Mailing address, telephone number
Must be digital - hard copy submissions are not accepted
ABSTRACT AND KEYWORDS
See the section Article Types for word limits
Cited sequentially in AMA style
FIGURES AND TABLES
Cited sequentially and included in the main document
Must be saved separately from the main document
Required if you plan to reproduce content from a published source or include a photograph of a patient
Patient permission form included at the end of this document
The following graph shows what types of articles are accepted for publication, and what requirement they may have.
You must submit a digital copy of your manuscript. Hard copy submissions are not accepted.
Keep the format of your manuscript simple and clear. We will set your manuscript according to our style—do not try to “design” the document.
The manuscript, including the title page, abstract and keywords, text, references, figure captions, and tables should be typewritten, double-spaced in 12-point font with 1-inch margins all around and saved as one file.
Each figure should be saved as its own separate file. Do not embed figures within the manuscript file. This requires special handling by Thieme’s Production Department.
Keep abbreviations to a minimum and be sure to explain all of them the first time they are used in the text.
The manuscripts should be written in American English.
The authors should use Système International (SI) measurements. For clarity, nonmetric equivalents may be included in parentheses following the SI measurements
Use generic names for drugs. You may cite proprietary names in parentheses along with the name and location of the manufacturer.
Credit suppliers and manufacturers of equipment, drugs, and other brand-name material mentioned in the manuscript within parentheses, giving the company name and primary location.
This journal adheres to a single-blinded peer-review policy. The title page should be included in the main document.
The title page should list the article title and the corresponding author’s full name, degree, title, department, affiliation, mailing address, e-mail address, and telephone and fax numbers. It should also list the full name, degree, title, department, and affiliation of every co-author.
Abstract and Keywords
See the section Article Types for word limits.
The abstract should briefly outline the content of the article and any conclusions it may reach. The keywords should be words a reader would be likely to use in searching for the content of the article.
Please clearly distinguish the hierarchy of headings within the manuscript by using capital letters, underline, italic, and bold styles as necessary.
As needed, use italic, superscripts, subscripts, and boldface, but otherwise do not use multiple fonts and font sizes.
Do not insert page or section breaks except where noted in the Author Instructions.
Use hard returns (the Enter key) only at the end of a paragraph, not at the end of a line. Allow lines of text to break automatically in your word-processing software. Do not justify your text.
Use only one space, not two, after periods.
Create tables using the Table function in Microsoft Word.
The source of any financial support received and recognition of personal assistance for the work being published should be indicated at the end of the article, just before the Reference section, under the heading Acknowledgments.
| Article Type
|| Abstract Limit
|| Keywords Limit
|| Title Limit
| Original Study
|| Up to 100 words
|| Up to 3 keywords
|| Up to 300 characters
|| No limit
|| No limit
|| No limit
| Rapid Communication
|| No limit
|| No limit
| Case Report
|| No limit
|| No limit
| Letter to the Editor
|| No limit
|| No limit
| Annual Meeting Abstract
|| No limit
References should be the most recent and pertinent literature available. It is essential that they are complete and thoroughly checked. If the reference information is incomplete, good online sites to search for full details are the National Library of Medicine:
; Books in Print:
; or individual publisher Web sites.
References must be listed in AMA style, using Index Medicus journal title abbreviations.
References follow the article text. Insert a page break between the end of text and the start of references.
References must be cited sequentially (NOT alphabetically) in the text using superscript numbers.
By way of exception to AMA style, do not italicize book titles or journal title abbreviations and do not put a period at the end of a reference.
List all author names, up to and including six names. For more than six authors, list the first three followed by et al.
References should be styled per the following examples:
1. Citing a journal article:
Newburger JW, Takahashi M, Burns JC, et al. The treatment of Kawasaki syndrome with intravenous gamma-globulin. N Engl J Med 1986;315:341–347
2. Citing a chapter in a book:
Toma H. Takayasu’s arteritis. In: Novick A, Scoble J, Hamilton G, eds. Renal Vascular Disease. Philadelphia: WB Saunders; 1995:47–62
3. Citing a book:
Stryer L. Biochemistry. 2nd ed. San Francisco: WH Freeman; 1981:559–596
4. Citing a thesis:
Stern I. Hemorrhagic Complications of Anticoagulant Therapy [Ph.D. dissertation]. Evanston, IL: Northwestern University; 1994
5. Citing a government publication:
Food and Drug Administration. Jin Bu Huan Herbal Tablets. Rockville, MD: National Press Office; April 15, 1994. Talk Paper T94-22
6. Citing an online article:
Rosenthal S, Chen R, Hadler S. The safety of acelluler pertussis vaccine vs whole-cell pertussis vaccine [abstract]. Arch Pediatr Adolesc Med [serial online]. 1996;150:457–460. Available at: http://www.ama-assn.org/sci-pubs/journals/archive/ajdc/vol_150/no_5/abstract/htm. Accessed November 10, 19967. Citing a symposium article:
Eisenberg J. Market forces and physician workforce reform: why they may not work. Paper presented at: Annual Meeting of the Association of American Medical Colleges; October 28, 1995; Washington, DC
Figures include photographs or radiographs, drawings, graphs, bar charts, flow charts, and pathways, but NOT lists or tables.
Figures must be cited sequentially in the text. Number all figures (and corresponding figure captions) sequentially in the order they are cited in the text.
Figure captions should be written after the reference list. Insert a page break between the end of references and the start of figure captions.
Figure captions should include a description of the figure and/or each lettered part (A, B, etc.) and of any portions of the figure highlighted by arrows, arrowheads, asterisks, etc.
For a figure borrowed or adapted from another publication (used with permission), add a credit line in parentheses at the end of each figure legend. This credit line should be a complete bibliographic listing of the source publication (as a reference), or other credit line as supplied by the copyright holder. For example (Reprinted with permission from Calfee DR, Wispelwey B. Brain abscess. Semin Neurol 2000;20:357.)
Data given in tables should be commented on but not repeated in the text. Be sure that lists or columns of related data are composed in a word-processing program like the rest of the text.
Do not intersperse tables in the text. Tables should appear after the figure captions. Insert a page break between the end of the figure captions and the start of the tables.
Tables must be double-spaced and numbered in the same sequence they are cited in the text. A short descriptive title should be provided for each table.
If a table contains artwork, supply the artwork separately as a digital file.
For tables borrowed or adapted from another publication (used with permission), add a credit line as the first footnote beneath each table. This credit line should be a complete bibliographical listing of the source publication (as a reference), or other credit line as supplied by the copyright holder. For example, “Reprinted with permission from Calfee DR, Wispelwey B. Brain abscess. Semin Neurol 2000;20:357.” (“Data from . . .” or “Adapted from . . .” may also be used, as appropriate.)
Other footnotes for tables should be indicated in the table using superscript letters in alphabetical order.
Any abbreviations used in the table should be explained at the end of the table in a footnote.
DIGITAL ARTWORK PREPARATION
It is best to use Adobe Photoshop to create and save images, and Adobe Illustrator for line art and labels.
Do not submit art created in Microsoft Excel, Word, or PowerPoint. These files cannot be used by the typesetter.
Save each figure in a separate file.
Do not compress files.
All black-and-white and color artwork should be at a resolution of 300 dpi (dots per inch) in TIFF format. Line art should be 1,200 dpi in EPS or TIFF format. Contact the Production Editor at Thieme if you are unsure of the final size.
It is preferable for figures to be cropped to their final size (approximately 3½ inches for a single column and up to 7 inches for a double column), or larger, and in the correct orientation. If art is submitted smaller and then has to be enlarged, its resolution (dpi) and clarity will decrease.
Lower resolutions (less than 300 dpi) and JPEG format (.jpg extension) for grayscale and color artwork are strongly discouraged due to the poor quality they yield in printing, which requires 300 dpi resolution for sharp, clear, detailed images. JPEG format, by definition, is a lower resolution (compressed) format designed for quick upload on computer screens.
Black-and-white artwork can be halftone (or grayscale) photographs, radiographs, drawings, line art, graphs, and flowcharts. Thieme will only accept digital artwork.
If possible, do not send color art for conversion to black-and-white. Do the conversion yourself so that you can check the results and confirm in advance that no critical details are lost or obscured by the change to black-and-white.
For best results, line art should be black on a white background. Lines and type should be clean and evenly dark. Avoid screens or cross-hatching, as they can darken or be uneven in printing and lead to unacceptable printing quality.
Color illustrations are expensive to produce and usually cannot be accepted unless the author is willing to cover the additional production costs incurred. Please check with the Editor in Chief or Thieme for details. We will convert color illustrations to black-and-white unless we receive a letter from the author assuming responsibility for the cost of printing color. Upon request, we will provide you with a cost estimate for the color printing.
All color artwork should be saved in CMYK, not RGB.
Arrows, asterisks, and arrowheads (or other markers) should be white in dark or black areas and black in light or white areas, and large in size. If not, these highlighting marks may become difficult to see when figures are reduced in size during the typesetting process.
Use 1-point (or thicker) rules and leader lines.
Capitalize the first word of each label and all proper nouns. Consider using all capitals if you need a higher level of labels.
Where there are alternate terms or spellings for a named structure, use the most common one and make sure it is consistent with what is used in the text.
Avoid using multiple fonts and font sizes for the labels; use only one or two sizes of a serif font.
Consult the checklist on the first page of this document to ensure that you are ready to submit your manuscript.
Manuscripts must be submitted electronically at the following link:
Always review your manuscript before submitting it. You may stop a submission at any phase and save it to submit later. After submission, you will receive a confirmation email. You can also check the status of your manuscript by logging in to the submission system. The Editor in Chief will inform you via email once a decision has been made.
Should the editors decide that your article requires a revision, you will need to make the changes via a word-processing program and resubmit it electronically.
Log In to the submission system and find your article, which will be marked for revision.
The best way to make revisions to your manuscript is by enabling the Track Changes mode in Microsoft Word, which will automatically highlight and mark up revised text. Please submit both a marked up copy and a clean copy of your revised manuscript to the submission system.
Your original files will still be available after you upload your revised manuscript, so you should delete any redundant files before completing the submission.
You will also be provided space in which to respond to the reviewers’ and editors’ comments. Please be as specific as possible in your response.
Page proofs will be sent to you via email. The proofs will be in a PDF file format, which should be opened using Acrobat Reader software. You will receive further instructions with your proofs. Take this opportunity to check the typeset text for typographic and related errors. Elective alterations are difficult to accommodate owing to the associated time and expense of introducing them. Therefore, please be sure that when you submit your manuscript, it is accurate, complete, and final.
You will be able to order offprints of your article in advance of its publication. Details and prices will be sent to you along with the page proofs. Upon publication, the corresponding author will receive a complimentary PDF of their article.
Statement on Liability
The legislation on product liability makes increased demands on the duty of care to be exercised by authors of scientific research and medical publications. This applies in particular to papers and publications containing therapeutic directions or instructions and doses or dosage schedules. We therefore request you to examine with particular care, also in your own interest, the factual correctness of the contents of your manuscript once it has been copyedited and returned to you in the form of galley proofs. The responsibility for the correctness of data and statements made in the manuscript rests entirely with the author.
Definition of Authorship
Authorship credit should be based on criteria established by the International Committee of Medical Journal Editors
. Each author should have made the following contributions towards the completion of the manuscript:
1. Substantial contributions to conception and design, acquisition of data, or analysis and interpretation of data
2. Drafting the article or revising it critically for important intellectual content
3. Final approval of the version to be published
Submitted manuscripts must represent original research not previously published nor being considered for publication elsewhere. The editors and Thieme combat plagiarism, double publication, and scientific misconduct with the software CrossCheck
powered by iThenticate
. Your manuscript may be subject to an investigation and retraction if plagiarism is suspected.
If you plan to reproduce text, tables, or figures from a published source, you must first obtain written permission from the copyright holder (usually the publisher). This is required even if the material is from your own published work. For material never before published and given to you by another person, you must obtain permission from that person. Serious delays to publication can be incurred if permissions are not obtained.
As the author, it is your responsibility to obtain all permissions, pay any permission fees, furnish copies of permissions to Thieme with your manuscript, and include a credit line at the end of the figure caption, beneath the table, or in a text footnote.
Upon publication of an article, all rights are held by the publishers, including the rights to reproduce all or part of any publication. The reproduction of articles or illustrations without prior consent from the publisher is prohibited.
Statement of Ethics
This journal adheres to the ethical standards described by the Committee on Publication Ethics
and International Committee of Medical Journal Editors
. Authors are expected to adhere to these standards.
For all manuscripts reporting data from studies involving human or animal participants, formal review and approval, or formal review and waiver (exemption), by an appropriate institutional review board (IRB) or ethics committee is required, as well as any necessary HIPAA consent, and should be described in the Methods section with the full name of the reviewing entity. All clinical trials must be registered in a public trials registry. Denote the registry and registry number.
Patient Permission Policy
You must obtain a signed patient permission form for every patient whose recognizable photograph will be used. If you do not supply this, the identity of the patient must be obscured before the image is published; this could interfere with the instructive value of the photograph. Attached below is a sample patient permission form.
Please contact the Editors or Thieme Publishers with any questions.
Editors in Chief
James K. Hartsfield Jr, DMD, PhD, FACMG
Genomic Core Center of the Biologic Basis of Oral
University of Kentucky
Lexington, Kentucky 40536-0297
Tel: 859 323 0296 / Fax: 859 257 8878
Huseyin Caksen, MD, PhD
Necmettin Erbakan University,
Meram Medical Faculty,
Department of Pediatrics,
Divisions of Pediatric Neurology and Genetics
42080 Meram, Konya, Turkiye
Tel: +90 332 223 75 46 / Fax: +90 332 223 61 81
Thieme Publishers – Journals Coordinator
Kelly M. Coffey
Thieme Medical Publishers, Inc.
333 Seventh Avenue
New York, NY 10001
Tel: 212-584-4662 / Fax: 212-947-1112
Thieme Publishers – Production Editor
Thieme Medical and Scientific Publishers
Private Limited A-12
Second Floor Sector 2
Noida - 201 301 India
Tel: +91 120 4556600 / Fax: +91 120 4556649