期刊名称：CLINICAL GENETICS
 期刊简介(About the journal)
投稿须知(Instructions to Authors)
编辑部信息(Editorial Board)
About the journal
Aims and Scope
The journal emphasizes research related to molecular approaches to genetic disease and the translation of these advances for the practising geneticist. The journal focuses on understanding how changes in specific genes may result in an altered phenotype, and how knowledge of these changes may result in new approaches to therapy. Specific clinical descriptions adding to the present body of knowledge will also be considered. In addition, the social, ethical, and psychological of aspects human genetics are covered. This journal fills the niche of linking the lab to the medical clinic. Proposals for mini-review articles of interest to the medical genetics community are welcome.
The editorial structure has been expanded, and accordingly, several new members have been invited to join the Editorial board. Clinical Genetics aims to become a leading journal in the field of clinical genetics by keeping the reader up to date on the latest developments in the literature, providing online access, and publishing research of the highest quality.
Highlights
Clinical Genetics is now accepting manuscripts electronically via an online submission site, Manuscript Central. The use of this system will: Speed the time to decision; Improve accuracy; Enable immediate distribution; Allow authors to track their own manuscripts. To access this system for submission and review, go directly http://clinicalgenetics.manuscriptcentral.com. Complete instructions for preparing and submitting manuscripts online are provided at the submission site. If you need assistance, please contact our support staff by phone at 1-434-817-2040 x 167 or via e-mail at Support@Scholarone.com
Instructions to Authors
Editorial Policy
Clinical Genetics aims to become a leading journal in the field by keeping the reader up-to-date on the latest developments in current literature, providing on-line access and publishing research of the highest quality.
Rapid Response Time
The Editorial Board has been expanded to include several new members (see cover page), all of whom are dedicated to a rapid response to authors and the rapid publication of manuscripts. Accepted manuscripts are normally published within 12 weeks after critical review and acceptance.
Original Articles
Original articles feature novel findings and developments. Manuscripts can be up to 3,000 words in length and can include up to seven figures. Contributions intended for publication as an Original Article should be so labelled.
Short Reports
Short Reports are generally 1,250 to 2,000 words in length and can include up to three figures. Special efforts are made to ensure the rapid publication of Short Reports. Contributions intended for publication as a Short Report should be so labelled.
Letters to the Editor
Letters focus on new findings or respond to prior articles. Letters should not exceed 600 words, and can include one table and one figure. Contributions intended for publication as a letter should be so labelled.
Correspondence
This section consists of readers' correspondence regarding any article published in Clinical Genetics. The authors of the article in question will usually be invited to respond to the readers' letter. Correspondence should not exceed 300 words.
Other Submissions
Special features of the journal include Mini Reviews, HotSpots, Images in Genetics and Developmental Biology.
Mini Reviews
This section highlights current developments in relevant areas of medical genetics. Authors can provide reviews of topics of particular interest. Manuscripts vary in length (anywhere from 1,250 to 5,000 words) and can include tables and colour figures. Mini Reviews are invited, but please check with the Editor-in-Chief prior to submitting.
HotSpots
This section surveys important developments in current literature. The section is usually comprised of reviews of at least three published manuscripts. HotSpots are approximately 2,250 words in length (750 words per review). Manuscripts are invited, but you may check with the Editor-in-Chief if you are interested in submitting to this new section.
Images in Genetics
Section Editor: Albert E. Chudley (e-mail: chudley@cc.umanitoba.ca).
This section is devoted to interesting images in genetics, such as unpublished phenotypes, artistic representations of genetic material as they appear in drawing or paintings, and so on. Check with the Section Editor if you have an idea for submission.
Developmental Biology: Frontiers for Clinical Genetics
Section Editor: Roderick R. McInnes (e-mail: mcinnes@sickkids.on.ca) and Jacques Michaud (e-mail: jmichaud@jusrine.umontreal.ca).
This section appears every two months, and features new developments in developmental biology and their relevance for clinical genetics. Manuscripts to this section are invited. However, you may check with the Section Editors if you are interested in submitting.
Announcements
Announcements are published free of charge. Announcements must be received 8 weeks before the month of the issue in which publication is desired. Announcements may be submitted by e-mail to the Editorial office at clingen@interchg.ubc.ca for approval.
Manuscript Submission
Manuscripts must be printed, double-spaced, and paginated. Send 3 copies of your manuscript and 3 copies of your figures and/or tables. Send one additional copy of the manuscript (and the figures and tables, if possible) on a newly formatted, IBM-compatible, 3.5 inch floppy disk, with tables and figures in a seperate file (TIFF, EPS or JPEG). Label the disk clearly with the first author's name and the name of the word processing program used. The author is advised to retain a copy of the manuscript, as manuscripts are not insured against loss or damage. Upon receipt, manuscripts will be acknowledged by fax, mail, or e-mail, and a reference number will be assigned to the paper.
E-mail Submissions
Manuscripts may also be e-mailed. Attach all documents as IBM-compatible (e.g. Word 5, Word 7, PowerPoint) files. If you choose to submit by e-mail, you should also send two hard copies, including colour figures and an IBM-compatible floppy disk by regular post. You must also include a return e-mail address and full postal address, a telephone and fax number.
Cover Letter
Include a letter from the author who will be responsible for correspondence regarding the manuscript as well as for communications among authors regarding revisions and approval of proofs.
The letter should indicate:
The category of manuscript being submitted (e.g. Original Article, Short Report, Letter).
Information on related prior or concurrent submissions to other publications.
A list of at least three referees.The list should not name current or prior collaborators.
The direct mailing address, telephone and fax numbers, and e-mail address of the corresponding author.
Title Page
The first page of the manuscript should contain, on separate lines, the title of the article and the authors' names and institutions. If the title is longer than forty letters and spaces, a short title, not exceeding that limit, will be required for use in the running head. The first page should also include the full postal address, e-mail address, and telephone and fax numbers of the author to whom communications and proofs should be sent. Please be aware that fax number and e-mail address are crucial to our rapid response process.
Sections
Papers must be clearly divided into the following sections: Abstract (not exceeding 200 words); Key Words; Introduction; Materials and Methods; Results; Discussion; Acknowledgements; References; Legends; and Figures/Tables.
Key Words
Four to nine key words for indexing should be given by the author(s) together with the abstract. They should be placed in alphabetical order and, when possible, adjusted to the Medical Subject Headings of Index Medicus.
References
References should be numbered consecutively in the order in which they appear in the text. Identify references in text, tables and legends by Arabic numerals. References cited only in the tables or figure legends should be numbered in accordance with a sequence established by the first identification of that figure in the text. Try to avoid using abstracts as references. Include manuscripts accepted, but not published; designate the abbreviated title of the journal followed by (in press). Information from manuscripts not yet accepted should be cited in the text as (submitted). The references must be verified by the author(s) against the original documents. Titles of journals should be abbreviated in accordance with the style used in Index Medicus/MEDLINE.
Examples:
1. Neufeld EF. Lysosomal storage diseases. Ann Rev Biochem 1991: 60: 257-280.
2. Crawley AC, Brown AC, Smith AB et al. Enzyme replacement therapy in a feline model of Maroteaux Lamy syndrome. J Clin Invest 1996: 97 (8): 1864-1873.
3. Watts WE, Gibbs DA. Lysomal Storage Diseases: Biochemi cal and Clinical Aspects. London: Taylor and Francis, 1986.
4. Estivill X, Morral N. Evolution of cystic fibrosis alleles. In: Dodge J, Brock JDH, Widdicomb JH, eds. Cystic Fibrosis: Current Topics, Vol. 3. Chicester: Wiley, 1996: 141-164.
Legends
Legends should be typed consecutively on a separate page or pages at the end of the paper.
Figures
All illustrations, graphs, drawings, or photographs are referred to as figures (abbreviate as Fig./Figs.). They should be numbered in sequence with Arabic numerals. Each figure should be identified with a figure number on the back. Any lines, numbers or lettering that are to appear in the illustrations should be large enough for the necessary reduction. In general, photographs should be 1?time the size of the final block and must be submitted as mounted glossy enlargements showing good detail and adequate contrast. It is the policy of Clinical Genetics for authors to pay the full cost for the reproduction of their colour artwork. Therefore, please note that if there is colour artwork in your manuscript when it is accepted for publication, Blackwell Publishing require you to complete and return a colour work agreement form before your paper can be published. This form can be downloaded as a PDF from the Internet. The web address for the form is: http://www.blackwellpublishing.com/pdf/Sub3000_X_CoW.pdf If you are unable to access the internet, or are unable to download the form, please contact Sunita Wiebe at: clingen@interchg.ubc.ca and she will be able to e-mail or FAX a from to you. Once completed, please return the form to the Production Editor at the address below:
Lorna Faith
Blackwell Publishing
23 Ainslie Place
Edinburgh
EH3 6AJ
Fax: +44 131 226 3803
mailto: lorna.faith@edn.blackwellpublishing.com
Any article received by Blackwell Publishing with colour work will not be published until the form has been returned.
Tables
The tables should be typed on sheets separate from the text. Tables must, as far as possible, be self-explanatory. They should be numbered consecutively with Arabic numerals and due regard should be paid to the proportions of the printed page. The approximate location in the text should be indicated by a circled marginal note.
Abbreviations and Symbols
Only standardized terms which have been generally accepted should be used. Unfamiliar abbreviations must be defined when first used. For further details, see Units, Symbols, and Abbreviations. A Guide for Medical and Scientific Editors and Authors. (available from The Royal Society of Medicine Press, 1 Wimpole Street, London WIM 8AE, England). Do not use Roman numerals in the text. In decimal fractions, a full stop, and not a comma, must be used. The minus sign is shown as -.
Proofs
Proofs will be sent via e-mail as an Acrobat PDF (portable document format) file. Only minor revisions are allowed without extra cost.
Proofs will be sent via e-mail as an Acrobat PDF (portable document format) file. The e-mail server must be able to accept attachments up to 4 MB in size. Acrobat Reader will be required in order to read this file. This software can be downloaded (free of charge) from the following Web site:
http://www.adobe.com/products/acrobat/readstep2.html
This will enable the file to be opened, read on screen, and printed out in order for any corrections to be added. Further instructions will be sent with the proof. Proofs will be posted if no e-mail address is available; in your absence, please arrange for a colleague to access your e-mail to retrieve the proofs.
Offprints
Offprints can be supplied if ordered on the offprint order form which will accompany the proofs.
The Printed Version
Articles should not exceed twenty pages in print. In the journal, "received" date indicates the date of receipt of the first version; "accepted" indicates date of acceptance of the final version.
Copyright Information
Authors submitting a paper do so on the understanding that the work has not been published before, is not being considered for publication elsewhere and has been read and approved by all authors. The submission of the manuscript by the authors means that the authors automatically agree to assign exclusive copyright to Blackwell Munksgaard Publishers if and when the manuscript is accepted for publication. When the manuscript has been accepted for publication the corresponding author will receive a Copyright Assignment form from the Editorial office to be returned on behalf of all co-authors. Although papers are subject to editing, the journal does not hold itself responsible for statements made by the contributor. The work shall not be published elsewhere in any language without the written consent of the publisher. The articles published in this journal are protected by copyright, which covers translation rights and the exclusive right to reproduce and distribute all of the articles printed in the journal. No material published in the journal may be stored on micro|fi|lm or videocassette or in electronic databases and the like or reproduced photographically without the prior written permission of Blackwell Munksgaard
Editorial Board
Maria Anvret, Södertälje, Sweden
Andrea Ballabio, Milano, Italy
Greg Barsh, Stanford, USA
Frederick R. Bieber, Boston, USA
Barbara Bowles Biesecker, Bethesda, USA
Han G. Brunner, Nijimegen, The Netherlands
Jos?Maria Cantu, Guadalajara, Mexico
Albert E. Chudley, Winnipeg, Canada
Kevin Davies, Chevy Chase, USA
Albert de la Chapelle, Columbus, USA
Dian Donnai, Manchester, UK
John Edwards, Oxford, UK
Xavier Estivill, Barcelona, Spain
Linsday Farrer, Boston, USA
Jan Friedman, Vancouver, Canada
Jean-Pierre Fryns, Leuven, Belgium
Eugene Ginter, Moscow, Russia
Judith G. Hall, Vancouver, Canada
H. Eugene Hoyme, Stanford, USA
Claudine Junien, Paris, France
Yuet Wai Kan, San Fransisco, USA
Trond P. Leren, Oslo, Norway
Roderick R. McInnes, Toronto, Canada
Victor McKusick, Baltimore, USA
Newton E. Morton, Southampton, UK
Arno G. Motulsky, Seattle, USA
Maximilian Muenke, Bethesda, USA
John J. Mulvihill, Oklahoma City, USA
Arnold Munnich, Paris, France
Yusuke Nakamura, Tokyo, Japan
David L. Nelson, Houston, USA
Guiseppe Novelli, Rome, Italy
Ben.A.Oostra, Rotterdam, The Netherlands
Harry Ostrer, New York, USA
Leena Peltonen, Los Angeles, USA
Michael B. Petersen, Athens, Greece
Hans-Hilger Ropers, Berlin, Germany
Jorge Sequeiros, Porto, Portugal
David O. Sillence, Parramatta, Australia
Andrea Superti-Furga, Zurich, Switzerland
Grant R. Sutherland, Adelaide, Australia
Sven Asgar Sorensen, Copenhagen, Denmark
Lap-Chee Tsui, Toronto, Canada
Shoji Tsuji, Niigata, Japan
Michel Vekemans, Paris, France
Robert Williamson, Melbourne, Australia
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