Sponsored Articles Molecular Genetics and Metabolism offers authors the option to sponsor non-subscriber access to
their articles on Elsevier's electronic publishing platforms. For more information please view our Sponsored Articles page.
Guide for Authors
Sponsored Articles: Molecular Genetics and Metabolism offers authors the option to sponsor non-subscriber access
to their articles on Elsevier's electronic publishing platforms. For more information please view our Sponsored Articles page.
Molecular Genetics and Metabolism considers original research articles in the areas
of molecular genetics, biochemical genetics, and endocrinology and metabolism. The scope of the journal includes the application of biochemistry
and molecular genetics in fundamental studies of the pathogenesis, diagnosis, and management of diseases with an inherited or acquired
abnormality in the function of a gene product. Research into the relationships between the structure and the function of genes and proteins
and between genotypes and phenotypes will be published. Methodologies will include both in vitro and in vivo studies of isolated components
of cells, whole cells, or intact organisms. Diseases of interest may be due to single or complex gene defects, Mendelian or non-Mendelian
inheritance, germ-line or somatic cell abnormalities, or acquired processes. Investigations of human disease and studies of other eukaryotic
or prokaryotic organisms to improve knowledge of human disease will be considered. Therapeutic strategies of interest to the journal
will include new molecules and new molecular targeting and/or gene therapy for inherited, infectious, and oncologic disorders, as well
as drug treatment, dietary intervention, transplantation and/or stem cell therapy. Case reports will not be published, but the editors
will consider biochemical and/or molecular genetic investigations involving a single patient with a rare disorder that improve the understanding
of the disorder. The scope of the journal includes biochemical, cell biological, molecular genetic and structural biological studies
of enzyme and other protein deficiencies, and fundamental investigations of the pathogenesis of inherited and acquired disorders. In
addition to basic investigations, practical advances in the biochemical and molecular diagnoses of human diseases will be considered
valuable contributions.
Submission of Manuscripts
It is a condition of publication that all manuscripts must be written
in clear and grammatical English and be submitted to the Molecular Genetics and Metabolism Web site at http://ees.elsevier.com/mgm. Minimal exceptions will be allowed. Authors who are unable to provide an electronic version should contact the Editorial Office prior
to submission (e-mail: mgm@elsevier.com; telephone: (619) 699-6746 ; or fax: (619) 699-6859).
Manuscripts are accepted
for review with the understanding that the same work has not been published, that it is not currently under consideration elsewhere,
and that its submission for publication has been approved by all of the authors and by the institution where the work was carried out;
further, that any person cited as a source of personal communications has approved such citation. Please include the individual's full
name, name of their institution or company, city, and state or country. Written authorization may be required at the Editor's discretion.
Articles and any other material published in Molecular Genetics and Metabolism represent the opinions of the author(s) and should
not be construed to reflect the opinions of the Editor(s) and the Publisher.
Upon acceptance of an article, authors will be asked
to transfer copyright (for more information on copyright, see http://authors.elsevier.com).
This transfer will ensure the widest possible dissemination of information. A letter will be sent to the corresponding author confirming
receipt of the manuscript. A form facilitating transfer of copyright will be provided after acceptance.
If material from other copyrighted
works is included, the author(s) must obtain written permission from the copyright owners and credit the source(s) in the article. Elsevier
has preprinted forms for use by authors in these cases: contact Elsevier Global Rights Department, P.O. Box 800, Oxford OX5 1DX, UK;
phone: (+44) 1865 843830, fax: (+44) 1865 853333, e-mail: permissions@elsevier.com.
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.
Consideration for Publication Original articles will be considered on the basis of the originality
and quality of the work, the clarity of the presentation, and the relevance of the research to the goal of the journal. At the discretion
of the Editor, an original article may be accompanied by a Commentary by a member of the Editorial Board or another contributor.
Minireviews will describe timely advances within the scope of the journal, emphasizing emerging topical areas and/or critically
analyzing existing data. Contributors should communicate with the Editor before preparing or submitting a review in order to determine
if the topic and intent are considered appropriate. At the discretion of the Editor, reviews may be accompanied by comment from one of
the Editors or another contributor. Minireviews may be any length and may include any number of references. Figures and tables may be
included.
Brief Communications will be considered for publication with an expedited review. These short manuscripts should
be no more than 5 manuscript pages (approximately 1000 words) in length with a limit of one figure or table. Standard section headings
should be utilized and the abstract should be limited to a few sentences (75 words or less).
Letters to the Editor will
be considered for rapid publication if they lie within the purview of the journal and if they contain new information, comment on published
work, or new theoretical suggestions. These should be brief (300 words or less) and without subject headings. One table or figure will
be allowed.
Submitted manuscripts claiming to be a demonstration of a new mutation will be rejected and returned to authors without
review unless the authors present results of a search for the new mutation in at least 100 chromosomes from unaffected individuals of
the same ethnic background as the patient(s) with the new mutation.
Authors should perform a power calculation to determine how many
subjects they need to study in order to find a significant association between a sequence variation and a disorder. The results of the
power calculation should be included in the methods section of the manuscript. Submitted manuscripts without a power calculation will
be rejected and returned to authors without review.
Authors attempting to demonstrate genotype/phenotype correlation should review
the literature below to help them interpret their results:
K.M. Dipple, E.R.B. McCabe, Phenotypes of patients with "simple" Mendelian disorders are complex traits: Threshholds, modifiers,
and systems dynamics. Am. J. Hum. Genet. 66 (2000) 1729-1735.
K.M. Dipple, J.K. Phelan, E.R.B. McCabe, Consequences of complexity
within biological networks: Robustness and health, or vulnerability and disease. Mol. Genet. Metab. 74 (2001) 45-50.
C.R. Scriver,
P.J. Waters, Monogenic traits are not simple: Lessons learned from phenylketonuria. Trends Genet. 15 (1999) 267-272.
J. Vockley,
P. Rinaldo, M.J. Bennett, G.D. Vladutiu, Synergistic heterozygosity: Disease resulting from multiple partial defects in one or more
metabolic pathways. Mol. Genet. Metab. 71 (2000) 10-18.
Preparation of Manuscripts
Manuscripts should be double-spaced
throughout. Pages should be numbered consecutively and organized as follows:
The Title Page (p. 1) should contain the article
title, authors? names and complete affiliations, footnotes to the title, and the address for manuscript correspondence (including e-mail
address and telephone and fax numbers).
The Abstract (p. 2) must be a single paragraph that summarizes the main findings
of the paper in less than 250 words. After the abstract a list of up to 10 keywords that will be useful for indexing or searching should
be included.
The Introduction should be as concise as possible, without subheadings.
Materials and methods
should be sufficiently detailed to enable the experiments to be reproduced. Please include the name of the supply or piece of equipment,
the company, city, and state or country.
Results and Discussion may be combined and may be organized into subheadings.
Acknowledgments should be brief and should precede the references.
References should be cited in the text by
Arabic numerals in square brackets, e.g., [4], and listed at the end of the manuscript in consecutive order. The names of all authors
should be included in the references. Abbreviate journal titles according to Index Medicus. Only articles that have been published or
are in press should be included in the references. Unpublished results or personal communications should be cited as such in the text.
Please note the following examples.
[1] C.R. Scriver, E. Treacy, Is there treatment for "genetic" disease? Mol. Genet. Metab. 68
(1999) 93-102.
[2] R. Hesketh, The Oncogene Facts Book, Academic Press, London, 1995.
[3] T. Shenk, Group C adenoviruses as
vectors for gene therapy, in: M.G. Kaplitt, A.S. Loew (Eds.), Viral Vectors, Academic Press, San Diego, 1995, pp. 43-54.
Figures.
Number figures consecutively with Arabic numerals. Please visit our Web site at
http://authors.elsevier.com/artwork for detailed instructions on preparing electronic artwork.
If together with your
accepted article you submit usable color figures, then Elsevier will ensure, at no additional charge, that these figures will
appear in color on the Web (e.g., ScienceDirect and other sites) regardless of whether these illustrations are reproduced in color in
the printed version.
Please note: Because of technical complications that can arise in converting color figures to "gray scale"
(for the printed version should you not opt for color in print), please submit in addition usable black-and-white files corresponding
to all the color illustrations.
Authors can suggest figures to the Editor for use as the cover figure for an issue. Cover
figures should be in color and include data or a schematic model. There will be no charge to the authors for printing the color figure
on the journal cover.
Tables should be numbered consecutively with Arabic numerals in order of appearance in the text. Type
each table double-spaced on a separate page with a short descriptive title typed directly above and with essential footnotes below.
Nomenclature Whenever enzymes are the subject of reporting, the Enzyme Commission (EC) number should be used for
accurate identification and retrieval purposes. The Internet address for the Enzyme Commission is
http://www.bis.med.jhmi.edu/bio/search/FILT/enzyme.html.
DNA sequences and GenBank accession numbers. Whenever nucleic acid and/or protein
sequence information is presented, an accession number from EMBL/GenBank or NBRF should be submitted. Authors wishing to enable other
scientists to use the accession numbers cited in their papers via links to these sources, should type this information in the following
manner: For each and every accession number cited in an article, authors should type the accession number in bold, underlined text. Letters
in the accession number should always be capitalized (see example below). This combination of letters and format will enable the typesetter
to recognize the relevant texts as accession numbers and add the required link to the GenBank sequences.
Example: GenBank
accession nos. AI631510, AI631511, AI632198, and BF223228), a B-cell tumor
from a chronic lymphatic leukemia (GenBank accession no. BE675048), and a T-cell lymphoma (GenBank accession no. AA361117).
Authors are encouraged to check accession numbers used very carefully. An error in a letter or number can result in a dead link.
In the final version of the printed article, the accession number text will not appear bold or underlined. In the final
version of the electronic copy, the accession number text will be linked to the appropriate source in the NCBI databases, enabling
readers to go directly to that source from the article.
Human gene mutations should be named in accord with the recommendations
of the Nomenclature Working Group (Antonarakis et al., Hum. Mutat. 11 (1998) 1-3; den Dunnen and Antonarakis, Hum. Mutat. 15 (2000) 7-12).
Preparation of Supplementary Material
Elsevier now accepts electronic supplementary material to support and enhance your
scientific research. Supplementary files offer additional possibilities for publishing supporting applications, movies, animation sequences,
high-resolution images, background datasets, sound clips, and more. Supplementary files supplied will be published online alongside the
electronic version of your article in Elsevier Web products, including ScienceDirect (http://www.sciencedirect.com).
To ensure that your submitted material is directly usable, please provide the data in one of our recommended file formats. Authors should
submit the material in electronic format together with the article and supply a concise and descriptive caption for each file. Please
note, however, that supplementary material will not appear in the printed journal. Files can be stored on 3?-inch diskette, ZIP disk,
or CD (either MS-DOS or Macintosh). For more detailed instructions, please contact the Editorial Office (e-mail: mgm@elsevier.com;
telephone: (619) 699-6538; or fax: (619) 699-6700).
Proofs
PDF proofs will be e-mailed to the corresponding author. To
avoid delay in publication, only necessary changes should be made, and proofs should be returned promptly. Authors will be charged for
alterations that exceed 10% of the total cost of composition.
Author Inquiries
For inquiries relating to the submission
of articles (including electronic submission where available) please visit http://authors.elsevier.com. This website also
provides the facility to track accepted articles and set up e-mail alerts to inform you of when an article's status has changed, as well
as detailed artwork guidelines, copyright information, frequently asked questions, and more. Contact details for questions arising after
acceptance of an article, especially those relating to proofs, are provided after registration of an article for publication.
