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期刊名称：JOURNAL OF MEDICAL GENETICS ISSN： 0022-2593 版本： SCI-CDE 出版频率： Monthly 出版社： BMJ PUBLISHING GROUP, BRITISH MED ASSOC HOUSE, TAVISTOCK SQUARE, LONDON, ENGLAND, WC1H 9JR   出版社网址： http://jmg.bmj.com/ 期刊网址： http://jmg.bmj.com/ 影响因子： 6.318 主题范畴： GENETICS & HEREDITY 期刊简介(About the journal)    投稿须知(Instructions to Authors)    编辑部信息(Editorial Board)    About the journal Since its launch in 1964, Journal of Medical Genetics has provided readers with reports of original research in medical genetics. Published monthly, the journal covers a range of topics from basic research on medically relevant aspects of the human genome to clinical reports, diagnostic methods and psychosocial aspects of clinical genetics. ISSN: 0022 2593 (print version) ISSN: 1468 6244 (electronic version) Publication: Monthly Instructions to Authors For guidelines on BMJ Journals policy and submission please click on links below. Manuscript Formatting Editorial policies Patient consent forms Licence forms Peer Review Process Online First process Editorial policy The Journal of Medical Genetics publishes original research and reviews relevant to medical genetics. The journal particularly encourages submissions on the molecular basis of human disease, human cancer genetics, the clinical manifestations of genetic disorders, applications of molecular genetics to medical practice, and the systematic evaluation of such applications. The journal attempts to handle the review process and publication as expeditiously as possible. The review process is usually completed within 4 weeks (mean 20 days), but can take longer in some instances. Accelerated publication is available where warranted by scientific urgency and importance. Submissions are accepted only on the understanding that they have not been and will not be published elsewhere, and are subject to editorial revision. Open access/Unlocked articles Authors are able to make their articles freely available online, immediately on publication, for a fee, using the Unlocked service. This service is available to any author publishing original research in a BMJ Journal for a fee of £1,200(+VAT)/€1,775(+VAT)/$2,220. Article types and word counts Original papers Short Reports Review articles Communications Online mutation reports (OMR) Supplements The word count excludes the title page, abstract, tables, acknowledgements and contributions and the references. Original papers Represent a substantial body of laboratory or clinical work. In general, original paper should not exceed 4000 words plus references.. Additional data may be presented as supplementary information, which will be published online only should the article be accepted (this can be in any format: text, tables, images, videos, etc.). Original papers should be presented in sections - namely: The Abstract should be concise and informative at 250 words or less and structured in sections in the format used by e.g. the British Medical Journal and the Journal of the American Medical Association: Background (summary of the problem being considered, or hypothesis to be tested), Key words A maximum of 5 which should be given beneath the abstract. Introduction Description of the background that led to the study. Enunciation of hypothesis to be tested. Methods Details relevant to the conduct of the study. Statistical methods should be clearly explained at the end of this section. Results Work should be reported in SI units. Undue repetition in text and tables should be avoided. Comment on validity and significance of results is appropriate but broader discussion of their implications should be placed in the next section. Discussion The nature and findings of the study are placed in context of other relevant, published data. Subheadings that aid clarity of presentation are encouraged. Acknowledgments and affiliations Reference should be made to availability of detailed data, either through public databases or otherwise, and to availability of materials used for reported investigations. It is generally expected that genomic and similar data should be lodged in appropriate public databases at or before the time of publication. Authors are encouraged to make DNA or cell lines available to other workers. Mutation information: it is recommended that all mutations in any gene be deposited in existing public databases. References In accordance with the Vancouver agreement these are cited by the numerical system and listed in the order cited in the text, not in alphabetical order by authors' names (In the text, the reference number should be given between square brackets on the line, not superscript.) All authors should be listed. Journal titles are abbreviated in accordance with the style of Index Medicus e.g Tomlinson IP, Beck NE, Homfray T, Harocopos CJ, Bodmer WF. Germline HNPCC gene variants have little influence on the risk for sporadic colorectal cancer. J Med Genet 1997;34:39-42. Nomenclature Genes: For human genes, use genetic notation and symbols approved by the HUGO Gene Nomenclature Committee (HGNC). Approved gene symbols may be obtained prior to submission from: HUGO Nomenclature Committee (HGNC) HUGO Gene Nomenclature Committee (HGNC) European Bioinformatics Institute (EMBL-EBI) Wellcome Trust Genome Campus Hinxton, Cambridgeshire CB10 1SA, UK fax: +44 (0)1223 494 468 For mutation nomeclature please use the nomenclature guidelines suggested by the Human Genome Variation Society (http://www.hgvs.org/mutnomen/) Figure legends View further details on illustrations and tables. Word count: up to 4000 words. Abstract: should not exceed 250 words. Tables/Illustrations: up to six. References: up to 50. Short reports A brief communication presenting laboratory or clinical work, collected case reports, or single case reports of clinical or scientific significance. Reports of single mutations at loci which have already been documented will be published only if they are of unusual clinical or biological interest. The format can be identical to Original papers (see above) but in some circumstances the main body of the text may be better presented without division into sections. Brevity and clarity are always likely to enhance the chance of a manuscript being accepted for publication. Word count: 2000 words. Summary: should not exceed 200 words. Tables/Illustrations: up to 2 References: up to 20. Review articles Authors are welcome to discuss possible topics for review directly with the Editor. Submissions of review articles of the type that were published previously in the "Syndrome of the month" format are welcome. Word count: between 2000 and 5000 words. Summary: should not exceed 250 words. Tables/Illustrations: up to 5 tables and 3 illustrations. References: up to 100. Communications This section includes brief descriptions of significant clinical or laboratory findings. Communcations should not exceed 1,000 words plus references and, in lieu of an Abstract, should begin with a referenced paragraph (limit: 100 words) stating the purpose of the study and the main results without methodologic details. Subheadings are not required. Word count: up to 1000 words. Tables/Illustrations: up to 2. References: up to 10. Mutation reports (OMR) MRs provide an opportunity to publish interesting human gene mutations at known loci in a concise format. Human gene mutations may be interesting because of their nature, their epidemiology, the associated phenotype etc. Mutation reports should report significant novel mutation data (e.g. missense mutations that might provide insights into critical protein domains, founder mutations, mutations associated with an unusual phenotype etc). Known mutations can only be included if important additional information is given (e.g. functional analysis of the mutant protein). The number of mutations reported will depend on the significance of the mutations described and the number of mutations reported previously. However if more than 10 mutations are known it is expected that MRs will increase this number by at least 30%. Tables summarizing previously reported mutations are encouraged. Include Genbank numbers for reference sequences. Mutation information: it is recommended that all mutations in any gene be deposited in existing public databases. Correspondence Letters in response to articles published in the Journal of Medical Genetics are welcome and should be submitted electronically via the website. Contributors should go to the abstract or full text of the article in question. At the top right corner of each article is a "contents box". Click on the "eLetters: Submit a response to this article" link. Some letters in response to an article may be published in the print version of the journal. Letters relating to or responding to previously published items in the journal will be shown to those authors, where appropriate. Supplements The BMJ Publishing Group journals are willing to consider publishing supplements to regular issues. Supplement proposals may be made at the request of: The journal editor, an editorial board member or a learned society may wish to organise a meeting, sponsorship may be sought and the proceedings published as a supplement. The journal editor, editorial board member or learned society may wish to commission a supplement on a particular theme or topic. Again, sponsorship may be sought. The BMJPG itself may have proposals for supplements where sponsorship may be necessary. A sponsoring organisation, often a pharmaceutical company or a charitable foundation, that wishes to arrange a meeting, the proceedings of which will be published as a supplement. In all cases, it is vital that the journal's integrity, independence and academic reputation is not compromised in any way. For further information on criteria that must be fulfilled, download the supplements guidelines (PDF). Editorial Board Editorial Office Professor Eamonn R Maher, Editor Journal of Medical Genetics BMA House Tavistock Square London WC1H 9JR UK Tel: +44 (0)207 383 6292 Fax: +44 (0)20 7383 6668 Email: jmg@bmjgroup.com Editor Eamonn R Maher University of Birmingham UK e.r.maher@bham.ac.uk North American Editor Charis Eng Ohio State University USA eng-1@medctr.osu.edu Associate Editors Juha Kere Karolinska Institute Sweden juha.kere@biosci.ki.se Willie Reardon Our Lady’s Hospital for Sick Children Eire wreardon@olhsc.ie Guy Van Camp University of Antwerp guy.vancamp@ua.ac.be Editorial Board L Aaltonen University of Helsinki, Finland SE Antonarakis Centre Medical Universitaire, Switzerland H Brunner Nijmegen University Medical Center, Netherlands J Burn University of Newcastle, UK PH Byers University of Washington, USA DF Callen Women's and Children's Hospital, Australia G Evers-Kiebooms Katholieke Universiteit Leuven, Belgium RJM Gardner University of Melbourne, Australia RJ Gorlin University of Minnesota, USA AG Knudson Jr Fox Chase Cancer Center, USA C Larsson Center for Molecular Medicine, Sweden E Legius Katholieke Universiteit Leuven, Belgium A Munnich Universit?Ren?Descartes, France S Narod Centre for Research in Women's Health, USA B Ponder Cancer Research UK Department of Oncology, UK KA Schneider Dana Farber Cancer Institute, USA T Strachan University of Newcastle, UK R Trembeth University of Leicester, UK H Torriello Michigan State University, USA M Warman Case Western Reserve University, USA M Zeviani Istituto Nazionale Neurologico C. Besta, Italy