Skip Navigation

# Human Molecular Genetics

Please read these instructions carefully and follow them strictly to ensure that the review and publication of your paper is as efficient and quick as possible. The Editors reserve the right to return manuscripts that are not in accordance with these instructions. Please note that all submissions must be accompanied by a manuscript submission form, a copy of which can be found at the end of these instructions.

## SCOPE

Human Molecular Genetics publishes papers of excellence, wide interest and broad significance in all aspects of human molecular genetics. Areas of interest include the molecular basis of human genetic disease, developmental genetics, neurogenetics, chromosome structure and function, molecular aspects of cancer genetics, gene therapy, biochemical genetics and advances in gene mapping and understanding of genome organization. Mutation reports are not normally considered unless thay are of demonstrated functional significance or represent documentation of mutations in newly isolated genes. In general, mapping papers will be considered when they are of functional significance for the field of molecular human genetics. The molecular analysis of other organisms such as yeast, Drosophila, C.elegans or mouse is also of interest where such studies are relevant to the understanding of the function of human genes. It is editorial policy not to publish Methods papers unless they include information of biological significance.

There is considerable need to integrate the new disciplines of comparative genomics and proteomics with modern genetics. In recognition of this, Human Molecular Genetics will now publish Articles in a series entitled 'Genomes and Function'. This will contain contributions describing computational studies that generate provocative hypotheses for directing experimental research. By providing such hypotheses through the pages of Human Molecular Genetics, computational biology will improve its impact on genetics research.

## REVIEW OF MANUSCRIPTS

Papers will normally be reviewed within three to four weeks of submission and will be published within six to ten weeks of acceptance. Due to space restrictions and to the volume of high quality papers submitted, the Editors reserve the right to return immediately those papers which are unlikely to be competitive for space in the journal and/or those which do not conform to the general editorial philosophy and standards of Human Molecular Genetics.

### Type of Manuscript

The emphasis of the journal is on full research papers which may be of any length required for concise presentation and discussion of the data. Succinct and carefully prepared papers are favoured in terms of impact as well as readability. Several different categories of paper are published. While authors are invited to submit manuscripts in particular categories, the Editors reserve the right to determine in which category a paper is ultimately published, according to the criteria below.

#### Articles

Articles are definitive and comprehensive descriptions of major research findings of broad significance for readers of Human Molecular Genetics. The results described should be both novel and of wide interest. Articles may be of any length and may contain as many display items as appropriate for the subject matter.

#### Reports

Reports are descriptions of complete studies detailing results in areas of interest to readers of Human Molecular Genetics. Reports are typically less comprehensive than Articles and present data that are generally of narrower interest within the field of human molecular genetics. Reports may be of any length, although they are typically shorter than Articles.

#### Commentaries and Mini-Reviews

Commentaries and Mini-Reviews are published by invitation only. However, proposals may be submitted in the form of a brief letter to the Editors at any time. The letter should state the topic and authors of the proposed review, and why the topic is of particular interest in the field.

## PREPARATION OF MANUSCRIPTS

Articles and Reports should be subdivided into the following sequence of sections: Title page, Abstract, Introduction, Results, Discussion, Materials and Methods, Acknowledgements, References, Legends to Figures, Tables.

### General Format

The hard copies should be typed on A4 or American quarto (8.5 x 11 inches). Dot matrix print or any print that is difficult to read is generally unacceptable. Please avoid the use of footnotes; use instead, and as sparingly as possible, parentheses within brackets. Clearly identify unusual or handwritten symbols. Do not use automatic page numbering. It is recommended that authors spell-check their files before submission.

### Title Page

The title should be short, specific and informative. The first name, initial(s), and surname of each author should be followed by his or her department, institution, city with postcode, and country. The fax and telephone numbers and Email address of the corresponding author should also be provided. It is editorial policy to list only one author for correspondence. Any changes of address may be given in footnotes. A footnote stating 'These authors contributed equally to this work' is permitted. Any deletions from or additions to the author list after acceptance of the paper must be submitted in writing, signed by all authors, to the appropriate editorial office. New sequence accession numbers (DDBJ/EMBL/GenBank) should be given.

### Abstract

The second page of the manuscript should contain the Abstract, which must not exceed 250 words. The Abstract should be comprehensible to readers before they have read the paper, and abbreviations and reference citations should be avoided. It is essential that the Abstract clearly states the biological importance of the work described in the paper.

### Materials and Methods

Names of suppliers should be given for materials used. Details of centrifugation should be given in g where possible; if centrifugation is given in r.p.m., the rotor must be specified.

### Acknowledgements

These should be included at the end of the text and not in footnotes. Personal acknowledgements should precede those of institutions and agencies.

### References

These should be numbered in order of appearance in the text (in parentheses) and must be listed numerically in the reference list. If an automatic referencing system has been used in the preparation of the paper, the references must not be left embedded in the final text file submitted. The citation of journals, books and multi-author books should conform to the following examples:

1. Gorecki, D.C., Monaco, A.P., Derry, J.M.J., Walker, A.P., Barnard, E.A. and Barnard, P.J. (1992) Expression of four alternative dystrophin transcripts in brain regions regulated by different promoters. Hum. Mol. Genet., 1, 505-510.
2. Francis, V. and Bastin, M. (2000) Gene targeting in rat embryo fibroblasts promoted by the polyomavirus large T antigen. Nucleic Acids Res., in press.
3. Maniatis, T., Fritsch, E.F. and Sambrook, J. (1982) Molecular Cloning: A Laboratory Manual. Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY.
4. Huynh, T.V., Young, R.A. and Davis, R.W. (1988) DNA Cloning. In Glover, D.M. (ed.), DNA Cloning - A Practical Approach. IRL Press, Oxford, UK, Vol. 1, pp. 49 - 78.

For references with >11 authors, the first 10 authors should be listed, followed by et al..

References of the type Smith et al. (1989) should not be used in the text.
Personal communications (J. Jones, personal communication) must be authorized in writing by those involved, and unpublished data should be cited in the text as (unpublished data). References to manuscripts submitted, but not yet accepted, should be cited in the text as (B. Jones and L. Smith, in preparation) and should not be included in the list of references. Citations of submitted manuscripts should include all authors involved. Authors are encouraged to cite web URLs in parentheses at the appropriate mention in the text. However, if the details are lenghty and the website is cited several times, it may be cited as a reference in the reference list.

### Illustrations

Wherever possible, figures should be submitted in their desired final size, to fit the width of a single column of text (86 mm) or a double column of text (180 mm).
Any lettering should be approximately 2 mm in height and should be in proportion to the overall dimensions of the figure. On the back of each figure, mark the number of the figure and the name of the first author, and also indicate the top margin.

Photographs should be of sufficiently high quality with respect to detail, contrast and fineness of grain to withstand the inevitable loss of contrast and detail inherent in the printing process. When several prints of the same figure are provided, please indicate which print should be used for reproduction in the Journal.
There is a fee of £300 or $480 per figure for the inclusion of colour figures. Written confirmation of intention to pay this fee for the number of figures in the paper should be submitted with the manuscript.

Line drawings should have clear and sharp lines. Shading used on line drawings should be clear and distinctive; shades of grey will not reproduce well and small patches of white on an otherwise black background are likely to be lost on reproduction.

Electronic images may be supplied in addition to, but not as substitutes for, hard copies. Figures should be supplied in separate files, not embedded in the text, and preferably on a separate disk to the text. Minimum resolutions are 300 p.p.i. for colour or tone images, and 1200 p.p.i. for line drawings. The preferred format is TIFF. Colour figures should be supplied in CMYK not RGB colours.

Changes to figures after acceptance and during proof stage will not be allowed without permission from the Editors. Such changes may result in additional charges and/or delays in publication of manuscripts.

Figure legends should be included on the disk where appropriate and also on a separately numbered manuscript sheet. Symbols used in figures should be limited to standard open and closed symbols (circles, squares, triangles, diamonds). Symbols cannot be generated in the legend and should be described rather than indicated by a symbol. Figures and legends should be intelligible without reading the text of the manuscript.

### Abbreviations

Try to restrict the use of abbreviations to SI symbols and those recommended by the IUPAC. Abbreviations should be defined and listed on a separate page. Standard units of measurement and chemical symbols of elements may be used without definition within the body of the paper. Acronyms formed from phrases are unacceptable.

### Conventions and Nomenclature

In general, the Journal follows the conventions of the CBE Style Manual (Council of Biology Editors, Bethesda, MD, 1983, 5th edn). Follow Chemical Abstracts and its indexes for chemical names. For guidance in the case of biochemical terminology follow the recommendations issued by the IUPAC-IUB Commission on Biochemical Nomenclature, as given in Biochemical Nomenclature, published by the Biochemical Society, UK.

For human genes, use genetic notation and symbols approved by the HUGO Nomenclature Committee. Approved gene symbols should be obtained prior to submission from the HUGO Nomenclature Committee, nome@galton.ucl.ac.uk . For nomenclature guidelines, see White et al., 'Guidelines for Human Gene Nomenclature' [Genomics, 45, 468-471 (1997)]. The Gene Name Proposal form may be completed on the Nomenclature Web page: http://www.gene.ucl.ac.uk/nomenclature . Use ISCN nomenclature for cytogenetics notation [Mitelman, F. (ed.) ISCN 1995: An International System for Human Cytogenetic Nomenclature, S. Karger, Basel]. Human gene names and loci should be written in uppercase italics and Arabic numerals. Protein products are not italicized.

For mouse strain and genetic nomenclature, refer to the International Committee on Standardized Genetic Nomenclature for Mice: http://www.informatics.jax.org/nomen/table.html . New symbols and names for genes should be obtained prior to submission through the online symbol registry form at: http://www.informatics.jax.org/nomen/nomen_submit.html .

## Accession numbers

Authors should be aware that all new sequence information, including that which extends a previously determined sequence already present in the database (and which already has an accession number), must be submitted to any of the three major collaborative databases - DDBJ (http://www.ddbj.nig.ac.jp), EMBL (http://www.ebi.ac.uk), GenBank (http://www.ncbi.nlm.nih.gov) - for a new accession number. It is only necessary to submit to one database, without regard to where the sequence data will be published. Data are exchanged between DDBJ, EMBL and GenBank on a daily basis. This number must be provided before acceptance of the manuscript. Accession numbers from the major collaborative databases should be cited in the text as (GenBank accession no. AF149731). Other databases should be identified where used.

## Supplementary Material

Only directly relevant experimental data should be included in the full text of manuscripts. Supporting data should be submitted for review as supplementary material, alongside the original manuscript, for publication online only. Material which has not been peer-reviewed will be made available only through a link to the author's home page, at the discretion of the Editor.

## SUBMISSION TO THE EDITORS

Three hard copies of the manuscript including all figures and tables, clearly labelled, and a completed manuscript submission form should be submitted as follows(a disk version should only be submitted with the final revised manuscript and should be consistent with the hard copy). Emailing the title page and abstract in advance to the editorial office will expedite the review process. Please refer to the manuscript submission form for the required formats.

From the Americas, the Pacific and Australia to:

The Editor
Human Molecular Genetics
Department of Genetics BRB 722
Case Western Reserve University
2109 Adelbert Road
Cleveland, OH 44106-4955
USA
Tel: +1 216 368 0199
Fax: +1 216 368 3030
Email: hmgjournal@po.cwru.edu

From the Rest of the World to:

The Editor
Human Molecular Genetics
Department of Human Anatomy and Genetics
University of Oxford
South Parks Road
Oxford OX1 3QX
UK
Tel: +44 1865 272416
Fax: +44 1865 272427
Email: helen.blaber@anat.ox.ac.uk

If a customs declaration is required, it is essential that the contents be listed as OF NO COMMERCIAL VALUE. Bills for Customs or VAT will be returned to the author. If the manuscript is rejected, normally only the original figures are returned to the author. Submission of a paper implies that it reports unpublished work and that it is not under consideration for publication elsewhere. If previously published tables, illustrations or more than 200 words of text are to be included, then the copyright holder's permission must be obtained. Copies of any such permission letters should be included with the paper.

### Disk submission

To assist rapid publication, all revised papers mustbe submitted on disk. The computer format and word processor used must be clearly marked on the disk and on the manuscript submission form. It is important to note that material submitted to the Editors in disk form must also be accompanied by three hard copies as above. See below for notes on disk preparation.

## OFFPRINTS

The Journal will provide 30 free offprints of all articles to authors. Offprint order forms are sent out with notification of acceptance and must be returned to Oxford University Press, Great Clarendon Street, Oxford, OX2 6DP, UK, if additional offprints are required. Late orders submitted after the Journal has been printed are subject to increased prices.

## POLICY

It is understood that by publishing a paper in Human Molecular Genetics, the authors agree to make available to colleagues in academic (non-profit) research any of the cells, nucleic acids, antibodies, etc. that are not available from commercial suppliers and are required to substantiate the scientific conclusions of the paper.

## COPYRIGHT

It is a condition of publication in the Journal that authors assign copyright to Oxford University Press. This ensures that requests from third parties to reproduce articles are handled efficiently and consistently and will also allow the article to be as widely disseminated as possible. In assigning the copyright, Authors may use their own material in other publications provided that the Journal is acknowledged as the original place of publication, and Oxford University Press is notified in writing and in advance.

Authors are reminded that it is their responsibility to comply with copyright laws. It is essential to ensure that no part of the text or illustrations have appeared or are due to appear in other publications, without prior permission from the copyright holder. Signed patient consent forms must be obtained for recognizable photographs. Submission of the manuscript will be taken to indicate the authors? compliance with these conditions.

Manuscripts will not be published without submission of an original signed copyright form, sent out with notification of acceptance (faxed forms will not be accepted).

## REVISION OF MANUSCRIPTS

When a manuscript is returned to the authors for revision prior to final acceptance, the revised version must be submitted within 1 month of the author's receipt of the referees' reports. Revised manuscripts returned after 1 month will be considered as new submissions subject to re-review.

## PUBLICATION

Manuscripts will usually be published within 2 months of acceptance.

## PAGE CHARGES

Page charges are NOT levied.

## PROOFS

If necessary to clarify queries, text proofs will be faxed to authors before typesetting translation. In the interest of speed, corrections must be returned within 24 hours. After page make-up, authors will receive a pdf file of the complete paper by email. Again, corrections must be returned within 24 hours. Hard copy proofs of colour figures only (not black and white) will be mailed to authors for approval.

## GUIDE FOR AUTHORS PREPARING ELECTRONIC DOCUMENTS

### DO:

Enter text in the style and order of the journal.
Insert figure captions and tables at the end of the file.
Save any tables, diagrams, figures, graphs or illustrations generated electronically as separate files and not embedded into the text file.
Type references in the correct order and style of the journal.
Type unjustified, without hyphenation, except for compound words.
Type headings in the style of the journal.
Use the TAB key once for paragraph indents.
Where possible use Times for the text font and Symbol for the Greek and special characters.
Use the word processing formatting features to indicate Bold, Italic, Greek, Maths, Superscript and Subscript characters.
Indicate clearly any special characters that you have drawn by hand on the manuscript.
Check the final copy of your paper carefully, as any spelling mistakes and errors will be faithfully translated into the typeset version.
Indicate on the form below the contents of each file.
Supply three hard copy printouts of the paper.

### DO NOT:

Enter carriage returns to obtain spacing between lines, paragraphs, references, etc. The space required is generated automatically by the typesetters.
Use double spaces after each sentence within a paragraph.
Use the automatic page numbering, running titles and footnote features of your word processing programme: number the hard copy by hand at the bottom of the page.
Include any copyright material (e.g. word processor software or operating system files) on the disk.

### DISK SUBMISSION:

After the manuscript has gone through all the review and editing stages, copy the data on to a 3.5 inch High Density disk. The data should be saved in the word processing format and also as RTF (Rich Text Format).
To avoid confusion do not copy any irrelevant files and/or back-up files on to the disk.
Apple Mac users should ensure the trash or wastebasket is empty before submitting the disk.
Use the first-named author's name or manuscript number for the disk label and file name.
To avoid loss or damage in transit ensure that the disk is adequately protected and always keep a copy of the data on your computer and/or back-up disk.
Please note that OUP does not intend to return the disk to the originator.

### FIGURE SUBMISSION:

Images on disk can be accepted in Adobe PhotoshopTM compatible formats. Images should be saved in TIFF format.
Colour figures should be saved as CMYK colour rather than RGB.
Image resolution should be 300 p.p.i. for colour and half-tone figures and 1200 p.p.i. for line figures.
Publication quality hard copies of all figures should be submitted and will be used for reproduction if the electronic files cannot be used.
For further information contact

Academic Journals Production
Oxford University Press
Great Clarendon Street
Oxford OX2 6DP, UK
Tel: +44 1865 556767; Fax: +44 1865 267773

## OUP JOURNALS MANUSCRIPT/DISK SUBMISSION FORM

Completion of all the relevant sections of this form will assist in the swift and efficient publication of your paper.

Manuscript Submittal Form (10 KB PDF File).