期刊名称：GENETICS IN MEDICINE
 期刊简介(About the journal)
投稿须知(Instructions to Authors)
编辑部信息(Editorial Board)
About the journal
Genetics in Medicine is the official journal of the American College of Medical Genetics with a mission to enhance the knowledge and practice of medical genetics. This peer-reviewed bimonthly journal offers an unprecedented forum for the presentation of innovative, practice-focused papers in contemporary genetics medicine, including such areas as chromosome abnormalities, metabolic diseases, single gene disorders, genetic susceptibility to common complex diseases, public health genetics and screening, genetic counseling, informatics and database development and management, genetics and the law, and all levels of education in human medical genetics. Genetics in Medicine is a must read for all physicians wishing to apply new genetic findings to their medical practice. Genetics in Medicine was accepted for inclusion in ISI's JCR after only one year of publication.
Instructions to Authors
Genetics in Medicine invites submissions of articles that enhance the knowledge and practice of medical genetics. Send manuscripts and other editorial communications to:
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Editorial Office:
Richard A. King, MD, PhD
Editor-in-Chief, Genetics in Medicine
Mayo Mail Code 0447
Institute of Human Genetics
University of Minnesota
420 Delaware Street SE
Minneapolis, MN 55455
TEL: 612-626-4224
FAX: 612-624-6645
E-mail: gim@tc.umn.edu
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Courier Address:
Richard A. King, MD, PhD
Editor-in-Chief, Genetics in Medicine
4-122 Moos Tower
515 Delaware Street
Minneapolis, MN 55455
TEL: 612-626-4224
FAX: 612-624-6645
E-mail: gim@tc.umn.edu
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The submission requirements of Genetics in Medicine conform to those presented by the International Committee of Medical Journal Editors in "Uniform Requirements for Manuscripts Submitted to Biomedical Journals' (URL for Uniform Requirements is http://www.acponline.org/journals/resource/resortoc.htm and the "Declaration of Helsinki: Recommendations Guiding Physicians in Biomedical Research Involving Human Subjects" (Journal of the American Medical Association 1997;277:927-934). The complete text of these guidelines appears in Annals of Internal Medicine 1997;126:36-47, or New England Journal of Medicine 1997;336:309-315.
SCOPE
Genetics in Medicine is the official journal of the American College of Medical Genetics. Its mission is to enhance the knowledge and practice of medical genetics. Original articles that are relevant to the broad aspects of medical genetics will be welcomed, including manuscripts in the areas of clinical genetics, biochemical genetics, cytogenetics, molecular genetics, public health genetics, genetic epidemiology, genetic counseling, genetic education, and clinical informatics. Innovation, the quality of study design and methodology, and the ability to disseminate knowledge in training or delivery of genetic medicine will be considered equally in the review process. Submitted manuscripts should not contain previously published material. Manuscripts should be submitted to the editorial office.
JOURNAL CATEGORIES
Genetics in Medicine accepts submissions for the following types of articles:
Original research articles. Original research on clinical genetics, cytogenetics, biochemical genetics, molecular genetics, common disease genetics, genetic counseling, genetic epidemiology, public health genetics, genetic education, and clinical informatics. References and a structured abstract (see "Manuscript Preparation") are required. Maximum length 4500 words 1-3 tables and 1-3 figures, plus the abstract and references.
Review Articles. Short reports of current topics in medical genetics that may be based on an article in the journal or may be related to an area of medical genetics that is important or particularly interesting to the College membership. Maximum length 4500 words and 2-4 small tables.
Editorials. Authoritative opinions or discussions of article topics in current issue of journal. Maximum length 1-2 pages.
Brief Reports. Reports of important and relevant clinical observations. Maximum length 1/2 page, one B&W photo or 1 small table with an electronic connection to additional tables and figures referenced.
Letters. Responses to published papers and short interesting observations.
MANUSCRIPT SUBMISSIONS
For expeditious handling, complete the following when submitting a manuscript:
Cover Letter. In the cover letter identify and briefly describe the manuscript, identify the corresponding author, provide information concerning prior presentation, cite all sources of support for research, note any relevant consideration, potential conflicts of interest or copyright constrictions. Indicate in a statement of submission that all authors have read and approved submission of the manuscript, and that the manuscript has not been published and is not being considered for publication elsewhere in whole or in part in any language except as an abstract.
Copyright Assignment. Please include the Copyright Assignment that is hand-signed by all authors. The agreement must be mailed or faxed to the editorial office. Also please provide signatures from all persons acknowledged, stating that they have seen and approved mention of their names in the article. Accepted manuscripts become the property of the American College of Medical Genetics. The assignment of rights to the College includes but is not limited to rights to edit, publish, reproduce, distribute copies, prepare derivative works, include in indexes or search databases in print, electronic or other media whether or not in use at the time of execution of this agreement. Authors retain the right to refuse their published material in lectures, lecture notes, and exhibits.
Copyright Form
Acknowledgments. Recognize all sources of support for the research, plus substantive contributions of individuals. When expressing appreciation to another scientist for assistance with the research or manuscript, enclose written permission since such an acknowledgment may imply endorsement of the data and conclusions. Acknowledgments of nonscientific assistance (typist, manuscript preparation, secretarial help) should not be included.
Manuscripts on Disk. Manuscripts on diskette are not required for initial submissions. You will be asked to send a computer diskette to the editorial office if the manuscript is accepted. This diskette must include the version of the complete manuscript, author information, acknowledgments, and references. Label each diskette with the author's name, short title of the article, platform (e.g., Windows 3.1, MAC, Unix), software (e.g., Microsoft Word, WordPerfect), and version (e.g., 5.1, 6.0, 7.0). Name the file on the diskette with the corresponding author's last name (up to eight letters) and a three letter extension to signify the format (e.g., king.doc). A hard copy printout that matches the electronic file exactly needs to accompany the disk.
Figure Files on Disk. Figures on disk can be saved as TIFF or EPS (readable/convertible formats). Printing standards require that graphics be prepared within the following parameters: 266-300 dpi minimum resolution (133-150 line screen) for color or black and white halftone images; 1200 dpi minimum resolution for line scans saved as bitmap images; scanned color images are saved as process (not index color/RGB); color is saved as Pantone spot/custom spot or four-color process (CMYK); art application EPS files should include clipping path if used; and, all fonts required for image included or text saved as graphics. A proof (in color if the graphic is in color) is essential. We cannot verify the integrity of the file without a visual proof. Missing proof will delay production. Please contact the editorial office or publisher with any questions regarding electronic submissions.
MANUSCRIPT PREPARATION
Format. Type manuscripts double-spaced, including references, figures legends, and tables, on one side of the page only. Original Contributions should not exceed 7 pages when typeset, unless justified by the authors in the cover letter and approved by the Editor-in-Chief. As a guide for manuscript length, there should be no more than 1 figure or 1 table for every 750 words. The manuscript should not usually exceed 4500 words, including references and figure legends. Leave 1-inch margins on all sides. Do not use proportional spacing or justified margins. Number every page, including figure legends, tables, and figures. Cite each figure and table in the text in numerical order. Cite each reference in the text in numerical order and list each in the References section. Reference numbers may be repeated but not omitted in text. Consult the American Medical Association Manual of Style: A Guide for Authors and Editors, 9th edition, Baltimore, MD: Williams & Wilkins, 1998, for style. Assemble the manuscript in the following order: 1) title page, 2) abstract page, 3) text, 4) acknowledgments, 5) references, 6) figure legends, 7) tables, and 8) figures.
Title Page. Please include the following on the title page: Full title, which will appear on page one of the typeset article, and a short title (total characters must not exceed 50, including spaces). Authors' names (identify first and last names), authors' academic degrees and primary affiliations, name and complete address for correspondence (be sure to include street address as well as post office box for corresponding author), and address for reprints if different from address for correspondence. Please include the fax number, telephone number, and e-mail address of corresponding author.
Abstract. References should not be cited in abstract. Please be concise (100 words maximum). Limit the use of acronyms and abbreviations. The abstract must be structured to include a Purpose (the rationale for the study), Methods (a brief description of methods), Results (presentation of significant results), and Conclusion (a succinct statement of data interpretation). Please provide five key words to be used as indexing terms. These words may later be copyedited to conform to journal style.
Text. Follow the guidelines in "Manuscript Preparation/Format." The following are typical main headings: Introduction, Materials and Methods, Results, and Discussion. Standard abbreviations must be defined at first mention in the text, table, and each figure. For reports of studies on human subjects or patients, a statement that the study was approved by the appropriate Institutional Review Board and that informed consent was obtained from the human subjects must be included. Copies of signed consent forms must accompany any photographs of identifiable persons. Generic names of drugs must be given.
Acknowledgments. Recognize all sources of support for the research, plus substantive contributions of individuals. When expressing appreciation to another scientist for assistance with the research or manuscript, enclose written permission since such an acknowledgment may imply endorsement of the data and conclusions. Acknowledgments of nonscientific assistance (typist, manuscript preparation, secretarial help) should not be included.
Genetic Nomenclature and Notation in Text. The genetic notation and symbols approved by the Human Gene Mapping Workshop (HGMW) should be used. Approved gene symbols and nomenclature can be obtained from Dr. Sue Povey, HUGO/GDB Nomenclature Committee, The Gal-ton Laboratory, University College, London (email: nome@galton.ucl.ac.uk; phone: 44-171-380-7410; fax: 44-171-387-3496). Mendelian Inheritance in Man (MIM) nomenclature and instructions for a specific entry should be used when appropriate (Online Mendelian inheritance in man: http://www3.ncbi.nlm.nih.gov/omim/. Use ISCN nomenclature for cytogenetic notation (Mitelman F [ed]. ISCN 1995. An international system for human cytogenetic nomenclature. S. Karger, Basel, 1995). Human gene names and loci are given in italicized capital letters and Arabic numerals. Protein products are not italicized. Mouse nomenclature should use the International Committee on Standardized Genetic Nomenclature for Mice http://www.informatics.jax.org/mgd.html
Units of Measure. Authors should express all measurements in Systemic International (SI) units with conventional units in parenthesis. Conversion tables are available in the American Medical Association Manual of Style: A Guide for Authors and Editors, 9th ed, pages 485-504.
References. Accuracy of reference data is the author's responsibility. Verify all entries against original sources, especially journal titles, inclusive page numbers, publication dates, accents, diacritical marks, and spelling in languages other than English. List the references in the numerical order in which they appear in the manuscript. Reference citations will appear as superior numbers in the text. List all of the authors' names for a given reference. Personal communications, unpublished observations, and submitted manuscripts are not legitimate references. They must be cited in the text as "(unpublished data, 19xx)." Journal titles should be abbreviated according to the Index Medicus. Sample reference styles are as follows:
Journal article Pomponio RJ, Hymes J, Reynolds TR, Meyers GA, Fleis-chhlauer K, Buck GA. Mutations in the human biotinidase gene that cause profound biotinidase deficiency in symptomatic children: molecular, biochemical, and clinical analysis. Pediatr Res 1997;42:840-848.
Book Gelehrter TD, Collins FS, Ginsburg D, editors. Principles of medical genetics, 2nd ed. Baltimore: Williams & Wilkins, 1998.
Chapter in a book Friedman JM, Dill FJ, Hayden MR. Population genetics. In: Friedman JM, Dill FJ, Hayden MR, editors. NMS genetics. Baltimore: Williams & Wilkins, 1996:105-109.
Meeting paper Kessler S. Transcripts of genetic counseling sessions: exercises in missed opportunities. Paper presented at Talking Human Genetics: Verbal Communication, Knowledge and Genetic Makeup. Hamburg, April 24-27, 1997.
Thesis/dissertation Hellsten E. Positional cloning of the infantile ceroid lipofuscinosis gene [dissertation]. Helsinki: National Public Health Institute, 1995.
World Wide Web page Institut Curie, 1997 http://www.curie.fr.
Computer software SAS Institute [computer program]. Release 6.12. Cary, NC: SAS Institute, 1997.
Online database OMIM (Online Mendelian inheritance in man) Baltimore: Johns Hopkins University, Center for Medical Genetics, 1996. http://www3.ncbi.nlm.nih.gov/omim/(September)
Work "in press" Hedrick PW, Black FL. HLA and mate selection: no evidence in South Amerindians. Am J Hum Genet. In press.
Work submitted to a publication but not accepted, personal communications and unpublished data. Do not list in reference section. Cite in the text as "personal communication" or "unpublished data" and be prepared to submit letters of authorization from the sources if the manuscript is accepted for publication.
Figures and Legends. Figures are either black and white line drawings, graphs, color, or halftones (photographs). Authors are responsible for the cost of printing color illustrations (see "Review and Publication Process/Costs to Authors"). Artwork must be prepared using professional standards and photographed as camera-ready, unmounted, glossy prints whether they are line drawings, photomicrographs, color, or halftones. Computer-generated laser prints will reproduce better if printed on glossy computer paper. Letters must be uniform in size and style. Only figures of reproducible quality will be accepted. Photocopies of figures must be attached to each manuscript. Four sets of unmounted, glossy prints must be submitted. Indicate figure number, first author, short manuscript title, and top of figure lightly in pencil or felt-tip pen on the back of each illustration. Enclose each set of prints in separate envelopes. Prepare four photocopies of each figure and attach one set of copies to each manuscript (i.e., to the original and three copies). Figure numbers must appear on all photocopies. Photocopies of the figures, now part of each manuscript, will be sent for review together with the originals. Provide a double-spaced copy for the figure legends on a separate page. If there are abbreviations or symbols in the figures, they must be defined in the figure or the figure legend.
Tables. Each table must begin on a separate page, double spaced. The table number should be Arabic followed by a period and a brief informative title. Use the same type as used for the text. Supply a brief heading for each column. Indicate footnotes to tables with lower case, superscript, italic letters. Do not use vertical lines in the table. Use horizontal lines above and below the column headings and at the bottom of the table only. Use extra space to delineate sections within the table.
JOURNAL POLICIES
Originality of Work. Manuscripts presented as original material will be considered for publication with the understanding that neither the article itself nor any part of the article, including tables and figures, have been or will be published or submitted for publication elsewhere before appearing in Genetics in Medicine. Copies of manuscripts or published papers that are closely related to the submitted paper should be included at the time of submission. Genetics in Medicine does not publish single mutation or single case reports unless they are of unusual significance.
Permissions for previously Published Material. Authors submitting manuscripts should avoid the use of copyrighted material (e.g., original, minimally altered, or partial versions of table and illustrations). If the use of such material is unavoidable, authors must obtain written permission from the copyright holder for use by the Journal and Lippincott Williams & Wilkins in print form, microfiche, and all electronic formats. This written permission must accompany the manuscript submission. Permission from the author of the original material is also required.
Availability of Published Material. With publication in Genetics in Medicine, authors agree to make cell lines, antibodies, cloned DNA sequences, and similar materials available to other investigators in non-commercial institutions to permit replication of the published work.
Conflict of Interest. Authors must disclose in the submission letter any commercial associations that might pose or create a conflict of interest with the information presented in any submitted manuscript. Such associations include consultancies, stock ownership, or other equity interests, patent licensing arrangements and payments for conducting or publicizing a study described in the manuscript. All sources of funds supporting the work must be disclosed in a footnote on the title page. This information will remain confidential while the paper is reviewed and will not influence the editorial decision.
REVIEW AND PUBLICATION PROCESS
Editorial Policy. All manuscripts will be reviewed by the editor-in-chief and an editor, and if appropriate for publication, will be sent to two or more external reviewers, including members of the associate editorial board. Manuscripts that are not reviewed will be returned to the authors. Authors may suggest a list of potential reviewers (including addresses, e-mail addresses, and telephone and fax numbers) in their submission letter. The editors, however, are not obligated to use those reviewers. The outcome of the review may be acceptance with or without revision, nonacceptance with encouragement for making major revisions for resubmission, or rejection. Manuscripts held for revision will be retained for 180 days, after which they will be returned to the authors for a new submission. Please contact the editorial office if you will not be able to make this deadline.
Costs to authors. Authors will be charged a fee of $30 per printed page of an article to defray costs of publication (information sent with author's proof). A fee of $700 per figure will be charged to authors for each of the first two color figures and $1500 for each figure will be charged thereafter. Authors are charged for reprints (reprint order forms are sent with author's proof). A charge of $50 per printed page for excessive (as determined by the editor and publisher) author alterations will be assessed. A fee of $100 per page for printing correction (erratum) after publication of the article that results from an author's error will be assessed.
SUBMISSION CHECKLIST
Use the link above to access a copy of the current Submission Checklist. Please print this page, fill out, and enclose with manuscript.
Editorial Board
Editor-in-Chief
Richard A. King, MD, PhD
Genetics in Medicine
Mayo Mail Code 0447
Institute of Human Genetics
University of Minnesota
420 Delaware Street SE
Minneapolis, MN 55455
TEL: 612-626-4224
FAX: 612-624-6645
e-mail: gim@tc.umn.edu
Editorial Office:
Richard A. King, MD, PhD
Editor-in-Chief, Genetics in Medicine
Mayo Mail Code 0447
Institute of Human Genetics
University of Minnesota
420 Delaware Street SE
Minneapolis, MN 55455
TEL: 612-626-4224
FAX: 612-624-6645
E-mail: gim@tc.umn.edu
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