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Instructions to Authors

     

Enacted in January 23, 2008
Revision on March 9, 2021


MANUSCRIPT SUBMISSION SYSTEM

Authors should submit manuscripts via the electronic manuscript management system for JGM, https://www.e-kjgm.org. Please log in as a member of the system and follow the directions. Any researcher anywhere in the world can submit a manuscript as long as the scope is appropriate. After creating an account, an author can proceed with the submission process. A cover letter and an electronic copy of the manuscript, figures, and tables should be included in the submission file package. The revised manuscript should be submitted through the same web system under the same identification numbers.
Queries concerning manuscript submission should be directed to:

Editor-in-Chief: Chong Kun Cheon MD, PhD.
Tel: +82-55-360-3158
E-mail: chongkun@pusan.ac.kr
Mail address: Department of Pediatrics, Pusan National University Yangdan Hospital, 20 Geumo-ro, Yangsan 50612, Korea



PEER REVIEW PROCESS

All manuscripts will be reviewed by two or more experts in the corresponding field. Upon completion of the review, authors will receive notification of the editor's decision by e-mail, with comments offered by the reviewers. The review process will be completed through the second review system. The editorial board will make a final decision on the approval for publication of the submitted manuscripts and can request further revisions if necessary. Statistical editing may be necessary if the data require professional statistical assistance. Manuscript acceptance is based on many factors, including the importance, originality, and priority of the research. A referee's decision is marked as, 'Accept,' 'Minor Revision,' 'Major Revision,' or 'Reject.' If there is a marked discrepancy in the decisions among referees or in opinions between the author and referee(s), the editor may send the manuscript to another referee for additional comments and recommend another decision. Reviewed manuscripts are returned to the corresponding author with comments and recommended revisions with the names and decisions of the referees removed. A final decision on acceptance or rejection for publication is forwarded to the corresponding author from the editorial office. The review and publication processes that are not described in the Instructions to Authors will be incorporated into the Editorial Policy Statements approved by the Council of Science Editors Board of Directors [1].



MANUSCRIPT PREPARATION AND FORMAT

Manuscripts must be written in clear and proper English. Manuscripts should be submitted in Microsoft Word (.doc or .docx) format. Manuscripts should be typed on A4 sized paper and should be double-spaced, using a font size of 12 with margins of 25 mm on each side and 30 mm at the top and bottom. The JGM recommends for the original articles as follows. The manuscript should be arranged in the following sequence: (a) title, author(s), complete address(es) of institution(s), and running title; (b) abstract and key words; (c) introduction; (d) materials and methods; (e) results; (f) discussion; (g) acknowledgements (if necessary); (h) conflict of interest statement; (i) references; (j) tables; (k) figure legends; and (l) figures. Each new section should begin with the section heading on a new page. All pages should be numbered consecutively starting from the title page. Page numbers should be placed at the middle of the bottom of the page.



1. ORIGINAL ARTICLES
The structure of every original article should consist of the title page, abstract and key words, Introduction, Materials and Methods, Results, Discussion, Acknowledgements (if necessary), Conflict of Interest, References, Tables, Figure legends, and Figures. Each section should be written according to the following rules.

□ Title page
The title should be as short and informative as possible and should not contain nonstandard abbreviations, nor should it exceed 20 words. Only the first letter of the first word of the title should be capitalized. The title page should give the full names of all authors and their institutional affiliation(s). If several authors and institutions are listed, the department and institutional affiliations of each author should be indicated using superscript numbers in sequence. In a separate paragraph, an address for correspondence, including the author name, academic degree, address (institutional affiliation, city, zip code and country), telephone and fax numbers, e-mail address, and ORCID should be provided. The running title is to be printed at the top of each page of a published paper and cannot exceed ten words. The word count should include text only, excluding the title, abstract, acknowledgements, conflict of interest statement, references, tables, and figure legends and should be provided at the end of the title page.

□ Abstract and Key words
The abstract should be concise, less than 250 words, and should describe succinctly, each in a separate paragraph, the Purpose, Materials and Methods, Results, and Conclusion of the study. Abbreviations, if needed, should be kept to an absolute minimum and should include proper identification. A list of a maximum of ten keywords should be included at the end of the abstract and should be written in lowercase letters with the first letter capitalized. The keywords should be standard Medical Subject Headings (MeSH) taken from Index Medicus [2]. Separate each word by a comma and place a period at the end of the last word.

□ Introduction
This section should concisely state the purpose of the article and include background reports that are relevant to the purpose of the paper.

□ Materials and Methods
This section should include sufficient details of the design, subjects, and study methods in order, as well as the data analysis methods and measures used to control bias in the study. The explanation of the experimental methods should be concise but sufficient to allow other researchers to reproduce the results. Only truly new procedures should be described in detail; previously published procedures should be cited using references. When reporting clinical studies or experiments with human subjects, the authors should indicate whether they received approval from the institutional review board. When reporting clinical studies or experiments with animal subjects, the authors should indicate whether the handling of the animals was supervised by the Institutional Board for the Care and Use of Laboratory Animals. Please consult the ‘Research and Publication Ethics’ for additional information. Materials and devices should be accompanied by the model name, company name, city, and country of the manufacturer. Subsection titles can be used. Precisely describe the methods of statistical analysis and programs with sufficient detail to enable a reader with access to the original data to verify the reported results.

□ Results
Results should be presented in a logical sequence in the text, tables, and illustrations, providing the main or most important findings first. Do not repeat all of the data in the tables or illustrations; instead emphasize or summarize only the most important observations. Results can be separated using subsection titles. Labels of tables and figures should be provided as Table X and Fig. X.

□ Discussion
This section should emphasize the new and important aspects of the study. Do not repeat the results in detail or any other information that is given in the Introduction or Results section. Speculation is permitted, but it must be directly supported by the newly presented data and be well founded. Limitations and further requirements may be described. Conclusions must be stated briefly in the final paragraph of the Discussion section.

□ Acknowledgements
Persons or institutes who contributed to the papers but not sufficiently to be coauthors may be introduced in this section. Financial support, including foundations, institutions, pharmaceutical and device manufacturers, private companies, intramural departmental sources, or any other support may be described.

□ Conflict of interest statement The corresponding author of an article is asked to inform the editor of the authors’ potential conflicts of interest, which could possibly influence their interpretation of the presented data. A potential conflict of interest should be disclosed in the manuscript even when the authors are confident that their judgments have not been influenced. Such conflicts may be financial support or private connections to pharmaceutical companies, political pressure from interest groups, or academic problems (e.g., employment/affiliation, grants or funding, consultancies, stockownership or options, royalties, or patents filed, received, or pending).

□ Author contributions statement (mandatory) After any acknowledgments please confirm that each author has met the Journal of Genetic Medicine authorship requirements listed below. In order to meet the requirements of authorship, each author must have contributed to at least one of the aspects below. Additional contributors to the submitted work should appear in the Acknowledgments. In your manuscript, please list which authors completed each of the following criteria:

• Substantial contributions to conception and design, acquisition of data, or analysis and interpretation of data;
• Drafting the article or revising it critically for important intellectual content; and
• Final approval of the version to be published.

□ References
References should be obviously related to the submitted document and should not exceed 40 in number. References should be numbered consecutively in the order in which they are first mentioned in the text. Each reference should be cited, e.g., [1,3,4], at the end of the related phrases in the text. The abbreviated journal title should be used according to the List of Journals Indexed for MEDLINE [5] and the List of KoreaMed Journals [6]. If there are six or fewer authors in a reference, then all author names should be listed. If there are more than six authors, list the initial six authors, and then substitute the rest of the authors with ‘et al.’ Provide the beginning and final page numbers of the cited reference. Abstracts from conferences are not allowed to be included in the references. Unless otherwise stated, the references should follow the NLM Style Guide for Authors, Editors, and Publishers [7].

Reference styles

• Article within a journal
Goswami HK, Shrivastava N, Gopal SK, Sharna S, Chandorkar M, Lee IH, et al. Unusual chromosomal features in a child with gradual disappearance of right ulna (mono ostolic osteolysis). J Genet Med 1997;1:11-6. Yoo HW, Kim GH. Molecular characterization and prenatal molecular evaluation of three fetuses in four un-related Korean families with Lesch-Nyhan syndrome. J Genet Med 1998;2:17- 22.
• Article within a journal supplement
Orengo CA, Bray JE, Hubbard T, LoConte L, Sillitoe I. Analysis and assessment of ab initio three-dimensional prediction, secondary structure, and contacts prediction. Proteins 1999; 43(Suppl 3):149-70.
• Article in press
Kharitonov SA, Barnes PJ. Clinical aspects of exhaled nitric oxide. Eur Respir J 2011, in press.
• Complete book
Halliwell B, Gutteridge JMC. Free radicals in biology and medicine. 3rd ed. New York: Oxford University Press, 1999.
• Book chapter
De Girolami U, Frosch MP, Anthony DC. The central nervoussystem. In: Cotran RS, Kumar V, Robbins SL, eds. Robbins pathologic basis of disease. 5th ed. Philadelphia: WB Saunders, 1994:1295-356.
• Book authored by an institution
Advisory Committee on Genetic Modification. Annual Report. London, 1999.
• Link/URL
1. The Mouse Tumor Biology Database. [http://tumor.informatics.jax.org/mtbwi/index.do]
2. Tatton-Brown K, Cole TRP, Rahman N. Sotos syndrome. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, et al, eds. GeneReviews® [Internet]. Seattle (WA): University of Washington, 2004 Dec 17 [Updated 2015 Nov 19; cited 2018 May 25]. [https://www.ncbi.nlm.nih.gov/books/NBK1479/]


□ Tables
Tables should be simple and should not duplicate information from figures. Each table should have a concise heading, should be on its own page, and must have an explanatory title and sufficient explanatory material. The first letter of the first word should be capitalized. Tables are numbered with arabic numerals in order of citation in the text. All tables should be referred to in the text, with their approximate positions indicated in the margin of the manuscript. The table function in MS Word should be used to create tables so that cells can be easily re-sized by the typesetters to fit the page. The Tab key should never be used to generate tables nor should the space bar be used to adjust spaces. It is recommended that a table not exceed one page. Table footnotes should explain all abbreviations, and lowercase letter superscripts, a, b, c..., should be used for special remarks.

□ Figure legend
Figure legends should be included in the main manuscript text file rather than being a part of the figure file. Do not use separate pages for each legend. A legend should briefly describe the data shown, explain any abbreviations or reference points in the photographs, and identify all units, mathematical expressions, abscissas, ordinates, and symbols. Capitalize the first letter of the first word, and place a period at the end of the phrase. For each figure, the following information should be provided: figure number (in sequence, using arabic numerals -i.e., Fig. 1, 2, 3); short figure title (maximum 15 words); detailed legend, up to 300 words.

□ Figures
Figures should be provided as separate files, not embedded in the main manuscript file. Each figure should be submitted as a single file. Figures should be submitted in TIFF, JPG (JPEG), or PDF file format. All figures should be termed ‘Fig.’ and labeled with arabic numerals. Lettering and symbols to appear in each drawing should be at the same points in each image. The conventions for abbreviations used in the journal should be noted so that the usage in illustrations and text are consistent. All figures should be cited in the text (e.g., Fig. 1, Fig. 1A, Figs. 1B-D, Figs. 1 and 2). Individual figure files should not exceed 10 MB. Multiple figures under one figure number should be marked on the photographs using capital letters in the lower left corner. Symbols, arrows, or letters used in photographs should contrast well with the background. Photographs and illustrations should be professionally prepared. Color and black and white photographs must be produced at 300 dpi or higher, and line drawings must be produced with higher resolution (600 dpi or higher). The preferred size of a photograph is 8×8 cm, but a one-page width (16.5 cm in width ×8 cm in length) is also acceptable. Photographs must be of sufficient contrast to withstand the inevitable loss of contrast and detail that occurs during the printing process. When the figures are reduced to the size of a single-column or of a single-page width, the smallest parts of the figure must be legible. Electronic and light microscopic photographs must be original or scanned copies of the original. Scales should be presented as a bar in the picture or as a magnification indication in the legend. All figures may be reduced, enlarged or trimmed by the editor for publication. Authors should review the images of such files on a computer screen to be sure they meet their own quality standards. The complete expense of reproducing color photographs and illustrations will be charged to the author. The author is responsible for submitting figure files that are of sufficient quality to permit accurate reproduction and for approving the final color galley proof.



2. REVIEW ARTICLES
Review articles are usually solicited by the Editor-in-Chief; however, unsolicited reviews will also be considered. Authors should contact the Editor-in-Chief in advance to determine the appropriateness of their review article for publication. Unsolicited reviews will undergo peer review. Previously published material should be incorporated into an integrated presentation of our current understanding of a topic. Topics of scientific consensus as well as topics that remain controversial may be discussed in the reviews. These types of articles should have the following structure: Title, Abstract and Key words, Introduction, Text, Conclusion, Acknowledgements (if necessary), Conflict of interest statement, References (no more than 100), Tables, Figure legends and Figures. Abstracts should summarize the important points in the review article in one paragraph (not to exceed 250 words) with no typical structure. Except for the Abstract, Text, and Conclusion, all sections must follow the same rules for original articles. Review articles are accepted after editorial evaluation.



3. CASE REPORTS
Unique cases that make an important teaching point or scientific observation may be suitable as case reports. A case report should consist of a Title, Abstract and Key words, Introduction, Case description, Discussion, Acknowledgements (if necessary), References (no more than 20), Tables, Figure legends, and Figures. Abstracts should summarize in one paragraph (not to exceed 250 words) the important points in the case report, with no typical structure. Except for the abstract and case description, all sections must follow the same rules for original articles.



4. REVISIONS
Revisions are usually requested to address the criticisms and comments made by the referees. The corresponding author must provide a point-by-point response to clearly indicate the alterations made in response to the referee’s comments. If references, tables, or figures are moved, added, or deleted during the revision process, they should be renumbered so that all tables, references and figures are cited in the text in numeric order. The author’s revisions should be completed within 14 days after the request. If the author has not uploaded the revised files by the withdrawn. To extend contact the editor.



5. SEX AND GENDER EQUITY IN RESEARCH

We encourage the use of the Sex and Gender Equity in Research (SAGER) guidelines (https://doi.org/10.1186/s41073-016-0007-6) for reporting of sex and gender information in study design, data analyses, results and interpretation. If you are submitting your articles to cell experiments, animal experiments, or clinical studies (all studies directed at humans), you should be aware of the sex (biological factor) and gender (identify, psychosocial or cultural factors) as factors that can affect the outcome to publish manuscripts with editorial provisions, including:


  1. Cell or animal experiment study
    • - Describe cell source or animal source and certification, and biological characteristics.
    • - Study the same positive rate in the target cells or animals and describe the result of gender difference.
    • - Provide a reasonable basis for researching on unity.
  2. Clinical studies
    • - In sex technology, sex and gender are distinguished and correctly described.
    • - The research subjects include male and female subjects, and the results are compared, analyzed, and presented.
    • - If the study is based on unity, it provides a scientific basis.



6. STATEMENT OF HUMAN AND ANIMAL RIGHT
Clinical research must be conducted in accordance with the ethical principles of medical research in humans as set out in the 1975 Declaration of Helsinki. (revised 2013 by the World Medical Association)
(available from: https://www.wma.net/policies-post/wma-declaration-of-helsinki-ethical-principlesfor-medical-research-involving-human-subjects/). Clinical studies that do not meet the Helsinki Declaration could not be considered for publication. These clinical research should be approved by the Research Ethics Committee (REC) or the Institutional Review Board (IRB) of the institution where the research was performed. The author should also include the IRB or REC institution name and number in the text. For publication, the human subjects’ identifiable information, such as the patients' names, birth dates, hospital numbers, or other protected medical information should not be disclosed.
In case reports of human subjects, authors should obtain the written informed consent for publication from patients or their parents.
In the case of animal subjects, the research must be conducted in accordance with national or institutional guidelines for the Care and Use of Laboratory Animals, and the ethical treatment of all laboratory animals should be maintained. For animal subjects, the research should be performed based on the National or Institutional Guide for the Care and Use of Laboratory Animals, and the ethical treatment of all experimental animals should be maintained.



GENERAL TEXT STYLE

□ Names of drugs, devices, and other products
Generic names should be used. When a proprietary brand is used in research, include the brand name and the name of the manufacturer in parentheses after the first mention of the generic name in the Materials and Methods section.

□ Gene names, symbols, and accession numbers
Authors describing genes, chromosomes, or related structures in a manuscript should include the names and official symbols provided by the US National Center for Biotechnology Information (NCBI), International System for Human Cytogenetic Nomenclature (ISCN), or the HUGO Gene Nomenclature Committee (http://www.genenames.org).

□ Statistical expressions
Mean and standard deviation should be described as mean ±SD and mean and standard error as mean±SE. P -values should be described as P<0.05 or P=0.003.

□ Units of measurement
Scientific units should be used based on the International System of Units (SI). The unit for volume is ‘L’ instead of ‘l’ to avoid confusion; the unit for blood pressure is mmHg; temperature is expressed in degree Celsius (oC), and the units for concentration are mol or some fraction thereof.

□ Numbers
In the text, numbers should be arabic numerals, except when beginning a sentence. Numbers greater than 999 should have commas (e.g., 13,970). The 24-hour system is used to indicate time (e.g., 18 hr, 30 min).

□ Abbreviations and symbols
Standard abbreviations may be used without definition. Any nonstandard abbreviations should be spelled out on first use, followed by the abbreviated form in parentheses. Thereafter, the abbreviated form may be used throughout the manuscript. Undefined abbreviations are not allowed. To make papers more readable and informative, the JGM requests that authors mark the following in italics for typesetting.
- Biological names of organisms: Saccharomyces cerevisiae,E. coli
- Restriction enzymes and other appropriate enzymes: EcoRI, Taq polymerase
- Name of genes: src, c-H-ras, myc
- Latin words: in vivo, in vitro, in situ
- Appropriate chemical structure words: trans-retinol, cis - acting, N-carbamoylaspartate
Abbreviations should be avoided as much as possible. Do not use abbreviations in the title and limit their use in the text. When they are used, full expression of the abbreviations following the abbreviated word in parentheses should be given at the first use. An abbreviation can be used if it is listed as a MeSH subject heading [6] or if it is approved by the International System of Units [8].



GALLEY PROOF

JGM provides the corresponding author with galley proofs of their corrections. Corresponding authors will receive electronic page proofs to verify the copyedited and typeset article before publication. Files of the typeset pages and supporting documents (e.g., reprint order form) will be sent to the corresponding author by e-mail. Complete instructions will be provided with the e-mail for downloading and printing the files and for faxing the corrected page proofs to the publisher. Corrections should be kept to a minimum. The editor retains the perogative to question minor stylistic alterations and major alterations that might affect the scientific content of the paper. Authors may be charged for alterations to the proofs beyond those required to correct errors or to answer queries. Any fault found after publication is the responsibility of the authors. We urge our contributors to proofread their accepted manuscripts very carefully. The corresponding author may be contacted by the editorial office, depending on the nature of the correction in the proof. If the proof is not returned or faxed to the editorial office within 48 hours, it may be necessary to reschedule the paper for a subsequent issue.



SUBSCRIPTION INFORMATION

JGM is not for sale but is distributed to members of the Korean Society of Medical Genetics and Genomics. However, JGM is an an Open Access Journal, of which full text articles are freely available at the official website (https://www.e-kjgm.org or http://www.ksmg.or.kr).



ARTICLE PROCESSING CHARGE

When the publication is decided, an invoice for article processing charge will be sent to the corresponding author before publication. The article processing charges will be KRW 10,000. There are no author submission fees.
The publication fee is free regardless of the membership. However, the reprint cost is 50,000 Korean Won (KRW) up to 30 copies, and 50,000 KRW per additional 30 copies.



SIMILARITY CHECK


Similarity Check is a multi-publisher initiative to screen published and submitted content for originality. To find out more about Similarity Check, visit http://www.crossref.org/crosscheck/. All manuscripts submitted to Journal of Genetic Medicine may be screened, using the iThenticate tool, for textual similarity to other previously published works.



REFERENCES

1. Committee on Publication Ethics: Guidelines on Good Publication Practice. London (United Kingdom): Committee on Publication Ethics. 1999. [http://fampra.oxfordjournals.org/content/17/3/218.full.pdf+html]

2. National Library of Medicine (US): MeSH. Bethesda (MD): National Library of Medicine (US). 1954. [https://www.ncbi.nlm.nih.gov/sites/entrez?db=mesh]

3. Korean Association of Medical Journal Editors. Good Publication Practice Guidelines for Medical Journals. 2nd ed. Seoul (Korea): Korean Association of Medical Journal Editors. 2013. [https://www.kamje.or.kr/board/view?b_name=bo_publication&bo_id=7&per_page=]

4. International Committee of Medical Journal Editors. Recommendations for the Conduct, Reporting, Editing, and Publication of Scholarly Work in Medical Journals. 2018. [http://www.icmje.org/icmje-recommendations.pdf]

5. National Library of Medicine (US): Journals. Bethesda (MD): National Library of Medicine (US). 2009. [https://www.ncbi.nlm.nih.gov/sites/entrez?db=journals]

6. Korean Association of Medical Journal Editors: KoreaMed: List of Journals. Seoul (Korea): Korean Association of Medical Journal Editors. 1997. [https://www.koreamed.org/JournalBrowserNew.php]

7. Patrias, K. Citing medicine: the NLM style guide for authors, editors, and publishers. 2nd ed. Wendling, DL, technical editor. Bethesda (MD): National Library of Medicine (US). 2007. [https://www.ncbi.nlm.nih.gov/books/NBK7256/]

8. International Bureau of Weights and Measures: The International System of Units. Cedex (France). 1799. [https://www.bipm.org/en/measurement-units/]



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