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期刊名称：EUROPEAN JOURNAL OF MEDICAL 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
Description
The European Journal of Medical Genetics publishes articles in English on all aspects of human and medical genetics and of the genetics of experimental models. Original articles, short reports, review articles and letters to the Editor on subjects such as clinical genetics, molecular genetics, cytogenetics, hereditary or syndromic cancergenetics, foetal pathology and prenatal diagnosis, behavioural genetics and community genetics are all welcome.
Bibliographic & ordering Information
ISSN: 1769-7212
Imprint: ELSEVIER
Commenced publication 2005
Subscriptions for the year 2007, Volume 50, 6 issues
Institutional online access: ScienceDirect eSelect
For purchase of online access to this journal on ScienceDirect by credit card.
Personal price: Order form
USD 149 for all countries except Europe, Japan and Iran
JPY 17,200 for Japan
EUR 112 for European countries and Iran
Institutional price: Order form
USD 508 for all countries except Europe, Japan and Iran
JPY 60,400 for Japan
EUR 456 for European countries and Iran
See also information about conditions of sale & ordering procedures, and links to our regional sales offices.
For an overview of recent dispatched issues, see the Journal issue dispatch dates
Audience
Researchers, Geneticists, Cytogeneticists.
Impact factor of this journal
2006: 1.614
Journal Citation Reports?2007, published by Thomson Scientific
Instructions to Authors
Guide for Authors
The following categories of articles are invited for publication in European Journal of Medical Genetics.
1. Original papers.
2. Short reports of significant new findings such as clinical or cytogenetic case reports. These must not exceed nine manuscript pages (three journal pages) including figures, tables and references.
3. Review articles in the fast-moving fields of human genetics. Authors are advised to discuss their review with the editors before submitting it.
4. Chromosomal imbalance letters: a forum for reporting clinical data associated with novel chromosomal imbalances, essential for the further annotation of the human genome as well as for clinical care. A template defining the structure and content of Chromosomal imbalance letters is found below.
Online submission of papers
Authors are requested to submit their manuscripts electronically, by using the EESubmit submission tool at  http://ees.elsevier.com/ejmg . After registration, authors will be asked to upload their article, an extra copy of the abstract, and associated artwork. The submission tool will generate a PDF file to be used for the reviewing process. The submission tool generates an automatic reply, which incorporates the manuscript number for future correspondence.
Submission of a manuscript will be held to imply that it contains original work and that it has not been published or submitted for publication elsewhere. It also implies the transfer of copyright from the author to the publisher.
General presentation
All papers are published in English, an abstract in French is no more required. An original and two copies of the manuscript are required. Final versions should be accompanied by a diskette (see 'Electronic manuscripts' below). Rejected manuscripts will not be returned. A hard copy print-out should be provided, in standard characters, 25 lines per page, with a 5-cm margin on the left. Authors should provide the revised version of the text on disk (RTF format for the text and, if possible, TIFF format - 300 dpi - for the figures) together with a print-out of the text and originals of the figures produced as glossy prints or with a high quality printer.
Preparation of text
The articles should be divided into the following sections: title page, abstract and keywords, introduction, materials and methods, results, discussion, references, tables (one per page), legends to the figures. Section headings should be numbered following the international numbering system (1; 1.1.; 1.1.1.; etc.). A signed statement of consent from the patient must accompany any photograph or other data (e.g. pedigree) that carries a possibility of the patient being identified.
Title page
The title page should include the title of the paper, the first and last names of the author(s) and their institution(s), different institutions being identified by superscript Roman letters, a, b, etc., any footnotes referring to the title (indicated as superscript numerals), the telephone, fax numbers and e-mail address of the corresponding author (this author being identified by an asterisk).
Abstract
The abstract should clearly state the problem addressed, the major results and the major conclusions. It should not exceed 300 words.
Keywords
Each article should include a set of keywords, i.e. 3 to 6 words or small phrases.
Introduction
The introduction should summarise the research problem and the pertinent findings.
Units
SI units should be used throughout. Multiple units should be written with negative superscripts (for example, g mL-1.
References
References should be listed at the end of the paper in alphabetical order of the last name of the author, and in chronological order for each author, preceded by an Arabic numeral enclosed in square brackets. If there is more than one author, the order is as follows: publications of a single author in chronological order; publications of the same author with one co-author in alphabetical order of the second author, and in chronological order; publications of the author with more than one co-author in chronological order. The list of references should only include published works that are cited in the text. The references are cited in the text by the corresponding number enclosed in square brackets. Abbreviations of journal names should conform to Index Medicus style. References of journals and books should be given according to the following format:
Journals:
[1] Conte R.A., Kleyman S.M., Klein V., Bialer M.G., Verma R.S., Characterization of a de novo t(Y;9)(q11.2;q22) by FISH technique, Ann. Genet. 39 (1996) 10-15.
Books:
[2] Dutrillaux B., Couturier J., La pratique de l'analyse chromosomiques, Masson, Paris, 1981.
Chapter in a book:
[3] Lettieri J., Lips and oral cavity, in: Stevenson R.E., Hall J.G., Goodman R.M. (Eds.), Human Malformations and Related Anomalies, Vol. II, Oxford Monographs on Medical Genetics no. 27, Oxford University press, Oxford, 1993, pp. 367-381.
Illustrations (figures and tables)
Illustrations should be numbered in Arabic numerals for figures and Roman numerals for tables consecutively throughout the text, and should be referred to in the text by their number (figure 1; table I). Tables should be typed with double line spacing and have a heading. Originals of figures are required in triplicate glossy prints, or produced with a high quality printer. They should be suitable for reproduction across a column (76 mm) or across a whole page (160 mm); the maximum height is 206 mm. The figures and the lettering should be in proportion and large enough to allow for reduction before printing. Colour figures may be published free of charge upon the approval of the Editorial Board; otherwise, the cost for reproduction of colour figures will be charged to the author. The publication of black and white figures is free of charge.
Template for chromosomal imbalance letter
Title: (XXX Mb) microdeletion/microduplication in chromosome band
(XXX) associated with (main clinical features).
Key words: Up to 15 keywords (preferably from the list of the London
Dysmorphology or Neurogenetics Database or maximally five not in the list).
Methods of detection:
cytogenetics: indicate banding level; Array-CGH: which array was used? 1Mb array, 32 K array, oligonucleotide
array, ... Origin of the probes. If already described before, give only reference.
Chromosomal anomaly or anomalies: Deletion/duplication in chromosome band XXX, with breakpoints in
probe X or with flanking probes XXX (centromeric) and XXX telomeric. Minimal and maximal size. Parental origin (if studied).
Method of confirmation: FISH, microsatellite, MAPH.
Causative of the phenotype? E.g. indicate one of the following:
confirmed de novo (both parents investigated); familial and segregates with phenotype; not detected in 200 control chromosomes matched for ethnicity.
Clinical description: Please provide sex, ethnicity, parental age, biometry
at birth (and gestational age), biometry at last investigation, psychomotor
development (if possible include IQ or DQ, with the test used
and at what age), phenotype at last examination, current age.
Discussion: Do not repeat the phenotypic description but indicate most
characteristic feature(s). Compare with previous report(s) on similar chromosomal
imbalances, candidate genes, ...
Figures: submit only pictures with relevant features. Facial dysmorphism
is better illustrated by picture than extensive description. Pictures
showing the array-data, FISH analyses or other investigations that confirm
the found aberration(s) should be provided as well, but will only be
published online.
References (max 10).
Proofs
Proofs will be sent to the corresponding author indicated on the title page. They should be carefully corrected and returned within 48 h of reception and in one single communication. No additional corrections are possible following receipt by Elsevier of the first set of corrections. Only printer's errors may be corrected, no changes or additions to the accepted manuscript will be accepted.
Offprints
Twenty-five offprints per contribution are sent to the author(s) free of charge. Additional offprints can be ordered by the author (s). Offprint requests after publication will be subject to an extra charge.
Author enquiries
For enquiries relating to submission of articles please visit the Author Gateway from Elsevier at http://elsevier.com/locate/authorresources or contact the Editor-in-Chief. The Author Gateway provides the facility to track the progress of accepted articles, and set up e-mail alerts to inform you of changes of article's status, by using the "Track a Paper" feature. Contact details for questions arising after acceptance of an article, especially those relating to proofs, are provided after registration of an article for publication. All information about the journal (including Guide to Authors) can be found on the World Wide Web at: http://www.elsevier.com/locate/ejmg
US National Institutes of Health (NIH) voluntary posting ("Public Access") policy.
Elsevier facilitates author response to the NIH voluntary posting request (referred to as the NIH "Public Access Policy"; see http://www.nih.gov/about/publicaccess/index.htm) by posting the peer-reviewed author's manuscript directly to PubMed Central on request from the author, 12 months after formal publication. Upon notification from Elsevier of acceptance, we will ask you to confirm via e-mail (by e-mailing us at NIHauthorrequest@elsevier.com) that your work has received NIH funding and that you intend to respond to the NIH policy request, along with your NIH award number to facilitate processing. Upon such confirmation, Elsevier will submit to PubMed Central on your behalf a version of your manuscript that will include peer-review comments, for posting 12 months after formal publication. This will ensure that you will have responded fully to the NIH request policy. There will be no need for you to post your manuscript directly with PubMed Central, and any such posting is prohibited.
Editorial Board
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Editorial Board |
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Editor-in-Chief:
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| K. Devriendt |
Center for Human Genetics, Herestraat 49, B-3000 Leuven, Belgium, Tel: +32 (0) 16345903, Email: ejmg@uz.kuleuven.ac.be
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Associate Editors:
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| A. Verloes |
Paris, France
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| G. Gillessen-Kaesbach |
Essen, Germany
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| A. Rauch |
Erlangen, Germany
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| C. Turleau |
Paris, France
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Editorial Board:
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| G. Anneren |
Uppsala, Sweden
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| J. Clayton-Smith |
Manchester, UK
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| F. Clerget |
Villejuif, France
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| G. Evans |
Manchester, UK
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| J. Graham |
Los Angeles, USA
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| O. Haas |
Vienna, Austria
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| R. Hennekam |
Amsterdam, The Netherlands
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| M. Jeanpierre |
Paris, France
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| H. Kayserili |
Istanbul, Turkey
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| D. Lacombe |
Bordeaux, France
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| M. Le Merrer |
Paris, France
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| T. Liehr |
Jena, Germany
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| S. Lyonnet |
Paris, France
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| MG. Mattei |
Marseille, France
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| A. Mégarban?/B> |
Beirut, Lebanon
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| K.H. Orstavik |
Oslo, Norway
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| A. Raas-Rotschild |
Jerusalem, Israel
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| C. Ravenswaay, van |
Groningen, The Netherlands
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| C. Rusu |
Iasi, Romania
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| R. Salonen |
Helsinki, Finland
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| C. Stoll |
Strasbourg, France
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| M. Tartaglia |
Rome, Italy
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| A. Toutain |
Tours, France
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