期刊名称：HUMAN MUTATION
 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
Human Mutation is a peer-reviewed journal that offers publication of original Research Articles, Methods, Mutation Updates, Reviews, Database Articles, Mutations in Brief (MIBs), Rapid Communications, and Letters on broad aspects of mutation research in humans. Reports of novel DNA variations and their phenotypic consequences, reports of SNPs demonstrated as valuable for genomic analysis, descriptions of new molecular detection methods, and novel approaches to clinical diagnosis are welcomed. Novel reports of gene organization at the genomic level, reported in the context of mutation investigation, may be considered. The journal provides a unique forum for the exchange of ideas, methods, and applications of interest to molecular, human, and medical geneticists in academic, industrial, and clinical research settings worldwide.
Readership
Human and medical geneticists · cellular and developmental biologists and biochemists · molecular biologists · cancer researchers
Keywords
genetics, genomics, proteomics, clinical diagnostics, disease, molecular biology, method , database, mutation, gene, DNA, protein, journal, online journal, Wiley InterScience
Abstracting and Indexing Information
- Abstracts in Anthropology (Baywood Publishing)
- AGRICOLA Database (National Agricultural Library)
- BIOBASE (Elsevier)
- Biological Abstracts® (Thomson ISI)
- BIOSIS Previews® (Thomson ISI)
- Biotechnology Citation Index™ (Thomson ISI)
- Cambridge Scientific Abstracts (CSA/CIG)
- CAS: Chemical Abstracts Services ()
- Chemical Abstracts Service/SciFinder (ACS)
- CSA Biological Sciences Database (CSA/CIG)
- Current Awareness in Biological Sciences (Elsevier)
- Current Contents®/Life Sciences (Thomson ISI)
- Current Opinion in Genetics & Development (Elsevier)
- EMBASE/Excerpta Medica (Elsevier)
- Embiology (Elsevier)
- IBIDS: International Bibliographic Information on Dietary Supplements ()
- Index Medicus/MEDLINE/PubMed (NLM)
- Journal Citation Reports/Science Edition (Thomson ISI)
- MEDLINE/PubMed (NLM)
- Neurosciences Abstracts (CSA/CIG)
- Science Citation Index Expanded™ (Thomson ISI)
- Science Citation Index® (Thomson ISI)
- SCOPUS (Elsevier)
- VINITI (All-Russian Institute of Science & Technological Information)
- Web of Science® (Thomson ISI)
Instructions to Authors
Note to NIH Grantees. Pursuant to NIH mandate, Wiley-Blackwell will post the accepted version of contributions authored by NIH grant-holders to PubMed Central upon acceptance. This accepted version will be made publicly available 12 months after publication. For further information, see www.wiley.com/go/nihmandate.
For additional tools visit Author Resources - an enhanced suite of online tools for Wiley InterScience journal authors, featuring Article Tracking, E-mail Publication Alerts and Customized Research Tools.
All authors should visit the Publication Ethics page for more important information regarding the journal's policy concerning ethics in publication.
Author Guidelines
Revised June 2008
CONTACT INFORMATION: Human Mutation Editorial Office, John Wiley & Sons, Inc., 111 River Street, Hoboken, NJ 07030-5774, USA, Phone: (201) 748-6404; Fax: (201) 748-6398; E-mail: humu@wiley.com; http://www.wiley.com/humanmutationcr
ONLINE SUBMISSION AND PEER REVIEW
Prepare your manuscript and illustrations in appropriate format, according to the instructions given at http://mc.manuscriptcentral.com/humu/. Be sure that your paper conforms to the scientific and style instructions of the journal, given below. Note that ScholarOne Manuscripts (formerly known as Manuscript Central) does not support Microsoft Vista and it cannot accept Word 2007 files.
Create an account for yourself in the system at the submission site, http://mc.manuscriptcentral.com/humu/ or enter your e-mail address if you think you might already have an account.
Please be sure to study the Instructions and Forms given at the site carefully, and then let the system guide you through the submission process. Online help is available to you at all times during the process. You are also able to exit/re-enter the process at any stage before finally "submitting" your work. All submissions are kept strictly confidential. If you have any questions, do not hesitate to contact us at humu@wiley.com.
EDITORIAL AIMS AND SCOPE
Human Mutation is a peer-reviewed journal that offers publication of original Research Articles, Methods, Mutation Updates, Reviews, Database Articles, Mutations in Brief (MIBs), Rapid Communications, and Letters on broad aspects of mutation research in humans and relevant work in animals. Reports of novel DNA variations and their phenotypic and functional consequences, reports of SNPs demonstrated as valuable for genomic analysis, descriptions of new molecular detection methods, and novel approaches to clinical diagnosis are welcomed. Reports on databases of mutations and SNPs are encouraged. Novel reports of gene organization at the genomic level, reported in the context of mutation investigation, may be considered. The journal provides a unique forum for the exchange of ideas, methods, and applications of interest to molecular, human, and medical geneticists in academic, industrial, and clinical research settings worldwide.
GENERAL
All manuscripts submitted to Human Mutation must be submitted solely to this journal and may not have been published in another publication of any type. No portion of a manuscript may be under consideration for publication elsewhere, or published elsewhere in a manner that could be construed as a prior or duplicate publication of the same, or very similar work. Upon acceptance of a manuscript for publication, the author will be requested to sign an agreement transferring copyright to the publisher, who reserves copyright. No published material may be reproduced or published elsewhere without the written permission of the publisher and the author. The journal will not be responsible for the loss of manuscripts at any time. All statements in, or omissions from, published manuscripts are the responsibility of the authors, who will assist the Publisher by reviewing page proofs before publication. Reprint order forms will be sent with the page proofs with the exception of MIBs, for which there are no proofs. High quality copies of MIBs and MPRs (published until 2001; no longer considered for review) can be printed from the web site. Additional data accompanying some articles may be published as online Supporting Information, at the Editors’ discretion.
Authors in Japan please note: Wiley-Japan can provide authors in Japan with a list of recommended services so they may copyedit and correct English grammar in their papers BEFORE submission. Please contact the Wiley-Japan office by fax (81-3-3556-9763) or E-mail (wileyjpn@mb.kcom.ne.jp) for more information.
EDITORIAL FEATURES
Research Articles
- Describe functional/structural consequences of mutations in proteins.
- Examine important genotype/phenotype relationships, especially in context of multiple mutations, SNPs, and/or novel gene(s) in single-gene disorders or complex diseases.
- Apply large-scale mutation and polymorphism detection or screening techniques for clinical diagnosis and counseling.
- Highlight identification and use of mutations in forensics, disease diagnosis, tissue typing, and cancer.
- Describe a significant number of related novel mutations in expressed genes (please see Mutations in Brief NOTE below).
- Describe in detail mutations in other species that have relevance to human disease.
- Describe in-depth functional studies of novel single mutations in newly cloned genes or unique cases, when of demonstrated significance (please see Mutations in Brief NOTE below).
Methods Articles
- Detail novel methods for mutation detection, analysis, and use in screening.
- Report in-depth comparative analysis of different detection methods; should include cost/benefit analysis and/or discuss quality control.
- Describe progress useful in mutation collection, documentation, databasing and distribution.
Rapid Communications
- Report exceptionally timely new research results. Contact the Managing Editor at humu@wiley.com before submission for advice or appropriateness.
Mutation Updates
- Briefly review and summarize all mutations and polymorphisms in specific genes, including functional and clinical significance.
- Synthesize the spectrum of mutations in genes with particular research or medical interests.
- Highlight relevant animal models.
- Include sections discussing genotype-phenotype correlation, diagnostic relevance, clinical implications, and future prospects.
- In cases where a significant number of novel mutations/polymorphisms accompanied with detailed functional analysis are to be reported, the Editors may consider co-review and co-publication of a separate Research Article or Mutation in Brief (MIB) presenting such variants.
- Please write the Reviews Coordinator, Rania Horaitis (r.horaitis@hfi.unimelb.edu.au), to suggest a topic and to receive the journal's Mutation Update author guidelines (new as of April 2008).
Review Articles
- Summarize information on gene families or regions and their function and clinical significance.
- Analyze strategies in the clinical investigation of mutations.
- Survey methodologies or diagnostic strategies relevant to the field of mutation/SNP detection, clinical diagnosis, etc.
- Survey mutation databases or programs used for databases.
- Please write the Reviews Coordinator, Rania Horaitis (r.horaitis@hfi.unimelb.edu.au), to suggest a topic.
Database Articles
- Describe individual locus-specific or central mutation databases and related software or bioinformatic technologies.
- Discuss current issues of importance regarding genome variation databases.
- At the editors' discretion, Database articles that are concise and descriptive, but which do not provide significant information or insight regarding the biology of mutations, may be published in an online-only format similar to Mutations in Brief (MIBs).
Special Articles
- Cover a wide range of topics pertinent to the field, including nomenclature, genetic testing, bioinformatics, and ethical issues.
- Usually invited. Suggestions are welcome. Please contact the Managing Editor at (humu@wiley.com).
Letters to the Editors
- Peer-reviewed short communications of noteworthy research breakthroughs and general correspondence. Letters commenting on and/or calling into question research published in Human Mutation will be sent to the original author for rebuttal if they pass peer and editorial review.
Mutations in Brief (MIBs)
- Report multiple novel mutations in concise form with precise definition at the DNA level. Some functional analysis will improve chances for peer review and may be requested by referees or Editors as a condition of acceptance.
- Report robust population studies of known and novel mutations in ethnic groups and related studies in conjunction with genetic databases.
- Reports of 1-5 novel mutations will not be considered for MIBs unless they are of exceptional interest or are well characterized (expression studies or genotype/phenotype correlations accompanying precise definition of variation at the DNA level).
- An MIB consisting of fewer than 15 simple uncharacterized mutations with little clinical detail and no accompanying population study may be rejected outright by the Editors at their discretion.
- Polymorphisms (SNPs, etc.) will be published in this format only if they include population frequency information and/or have potentially interesting or useful characteristics, or are demonstrated to be relevant to a genetic background of interest (e.g., in the context of an important phenotype or genotype). See MIB NOTE, below.
- All accepted MIBs will be published in electronic form only and will be listed in the journal's print and electronic Table of Contents. The articles receive electronic page numbers for referencing purposes and are indexed in Medline/PubMed.
- Authors should use the MIB submission template, which can be downloaded from http://onlinelibrary.wiley.com/journal/10.1002/(ISSN)1098-1004/homepage/template_submission_instructions.htm or obtained by contacting the Editorial Office (humu@wiley.com). They must be submitted using the online submission system (http://mc.manuscriptcentral.com/humu/).
MIB NOTE:
- The MIB format is appropriate for reporting large numbers (30 or more) of novel mutations in genes for which many mutations have already been reported and the variants are likely to be associated with phenotype but no detailed expression or biochemical studies have been performed. Clinical data should be provided.
- Extensive clinical and/or functional data may improve the chances of such submissions being considered as Research Articles vs. MIBs, but the most important criteria are (1) the extent to which novel mutations are analyzed in detail and (2) the relative impact of the finding as perceived by the editorial board and/or referees.
- It is extremely rare that reports of single mutations are considered for publication as either Research Articles or MIBs, especially if there is little or no functional analysis reported. A higher priority is given to studies that are first reports of disease genes or that shed new and significant insight into the genetics and biology of disease.
- Reports containing only novel polymorphisms/SNPs are rarely considered. They must include frequency data and must also demonstrate: (1) evidence for association with phenotype/genotype; (2) importance in evolutionary, pharmacogenetic, or haplotype analysis; and/or (3) other special importance, or they may be rejected outright. Write the editorial office (humu@wiley.com) if you have questions regarding a possible submission.
- The Editorial Board reserves the right to request revision and resubmission of a Research or Methods Article, Database Article, or Rapid Communication, for consideration as an MIB.
- All novel mutations or polymorphisms should have at least two validations of existence (see Validation of Mutations, below).
CRITERIA FOR ACCEPTANCE
Ethical Compliance
Authors are responsible for confirming that research performed on human subjects complies with standards established by an appropriate ethics review committee (IRB in the United States) and the granting agency. If the manuscript includes data or description of patients, the authors should provide (1) a statement in the manuscript that the research was prospectively reviewed and approved by a duly constituted ethics committee OR (2) a statement in a cover letter to the editors that the manuscript is a retrospective case report that does not require ethics committee approval at that institution. For Database articles: it should be stated that patient clinical data have been obtained in a manner conforming with IRB and/or granting agency ethical guidelines. Any other situations not covered here should be discussed with the editorial staff.
Patient Anonymity and Pedigrees
To protect patient confidentiality, authors must not use actual patient names or initials in the manuscript text, tables, or pedigrees. Please use a coded designation instead. Patient pedigrees should only be used when absolutely necessary, and the editors may request their omission. Pedigree nomenclature guidelines should be as stipulated in Bennett et al. AJHG 56:745–52, 1995. At the editor's discretion, patient photos can be included if proper consent is provided.
Validation of Mutations (approved by the HUGO Mutation Database Initiative/Human Genome Variation Society)
Identified mutations resulting in disease should be confirmed on a second sample. Mutations detected by PCR methods must be confirmed on a second PCR product.
The complete coding sequence should have been scanned or sequenced to eliminate the possibility of the presence of other mutations.
For disease-causing mutations, it must be established by at least two methods (in absence of expression studies, and with the exceptions of generated stop codons and deletions) that the mutation likely causes disease. Possible methods include linkage to disease in a family, concurrent appearance of the phenotype with a de novo mutation, or determination that the mutation is absent among at least 50 normal individuals (100 alleles) or involves a highly conserved amino acid.a
Submission of Data to Genetic Databases
Human Mutation supports the recommendations of the Human Variome Project (Cotton RG et al. 2007.Nat Genet. 39: 433 http://www.nature.com/ng/journal/v39/n4/full/ng2024.html). Consequently, authors are urged to submit all variants included in an article to the respective Locus Specific Database (LSDB) or other resource (such as dbSNP) prior to acceptance. (Submission to LSDB is a requirement for Mutation Updates if such an LSDB is available.) In the case of dbSNP, the identification numbers should be used to describe the SNPs in the manuscript. Authors must confirm the status of database submission in their cover letter. The Editors also encourage the use of widely accessible genetics databases as repositories for human gene mapping information, including loci (genes, fragile sites, DNA segments), and probes. Further information and updates on this policy including links to Locus-Specific Databases can be obtained from the Human Genome Variation Society (HGVS) web site www.hgvs.org
Microarray data should be MIAME compliant (for guidelines see http://www.mged.org/Workgroups/MIAME/miame.html).
Conventions and Nomenclature
MUTATIONS AND POLYMORPHISMS
Because of the importance of the issue and the overall consensus on the rules, Human Mutation is adopting an editorial policy that requires absolute compliance of the rules to describe sequence variants before manuscripts will be accepted and published.
The most current guidelines are summarized on the Mutation Nomenclature Homepage at the HGVS website (http://www.hgvs.org/mutnomen/). Examples of acceptable nomenclature are also provided. Important considerations include:
- Variants should be described in the text and tables using both DNA and protein designations whenever appropriate.
- If alternative nomenclature schemes are commonly found in the literature, they may also be used in addition to approved nomenclature , but they must be defined clearly.
- Polymorphisms may be described using dbSNP identifiers (e.g., rs123456:A>G).
- Authors should always include the GenBank Accession Number of the relevant wild-type gene sequence(s), with version number (e.g.: RefSeq NM_123456.3 or GenBank U654321.1), in the Materials and Methods section and as a footnote in tables listing mutations.
Acceptance and/or publication may be delayed if authors are unable to follow the guidelines properly. Authors are advised to check sequence variant descriptions using the Mutalyzer program (http://www.LOVD.nl/mutalyzer/). Using batch mode, all variants can be analyzed at once. See the article Wildeman et al., Hum Mutat 29:6-13, 2008. Authors should also refer to den Dunnen and Antonarakis (Hum Mutat 15:7–12, 2000) and den Dunnen and Paalman (Hum Mutat 22:181-182, 2003) for additional information. Visit www.hgvs.org/mutnomen/ for the latest nomenclature updates or if you have further questions.
GENE SYMBOLS
All manuscripts must include (when available) HGNC-approved gene symbols and OMIM database reference numbers for genes and/or disorders. Approved human gene symbols should be obtained prior to submission from the HUGO Gene Nomenclature Committee (HGNC), at www.genenames.org or by email to hgnc@genenames.org. In addition, commonly used alternative gene and disease symbols may also be used in the abstract (180–200 words) and key words. Note: OMIM entries (http://www.ncbi.nlm.nih.gov/omim) do not always clearly indicate the most current HGNC-approved gene symbol, but OMIM does provide links to the HGNC database.
CONSIDERATIONS FOR REVIEW AND ACCEPTANCE
Priority scores given by reviewers and the Editorial Board, and available space, will be used to determine acceptance or rejection. Manuscripts submitted as Research or Methods Articles that are judged by the Editorial Board to be more suitable as a Mutation in Brief may be rejected prior to review. Following review, Research or Methods Articles with lower priority scores but reflecting good research may be considered for publication as MIBs.
In the interest of space, page limits will be strictly enforced for Research Articles, Methods, and Rapid Communications at the discretion of the Editors. Online use of supporting information may be requested. Editors also reserve the right to limit the length of Mutation Updates, Reviews, and Database Articles as deemed necessary.
MANUSCRIPT SUBMISSION
Authors should submit their manuscript directly to the journal via the online submission system, available at http://mc.manuscriptcentral.com/humu/. A cover letter should include a list of 3-4 Communicating Editors whom the author would consider appropriate to administer the paper. (The most up-to-date list of Communicating Editors can be found on the journal home page.) The Editorial Office will make every effort to accommodate these requests. If the manuscript is considered a candidate for peer review, the Managing Editor will work with the Communicating Editors and/or Co-Editors to coordinate peer review and will receive recommendations regarding publication or rejection. Please note that Communicating Editors cannot communicate work from their own laboratories and are discouraged from communicating work from colleagues at their own institutions.
IMPORTANT: If the manuscript was invited, please indicate so, and by whom, in a cover letter.
Redundant material such as a repeat of often-described background or previously defined methodology should be avoided by referring to reviews or recent papers.
Authors who have questions about the appropriateness of their work for Human Mutation or questions about submissions should contact the Managing Editor, Dr. Mark H. Paalman, at the Editorial Office (humu@wiley.com).
Delayed revisions policy: Following review, any manuscript for which revision has been requested must be returned within three months or it will be considered withdrawn. A revised manuscript sent after three months may be treated as a new submission, subject to any new editorial policies.
All Manuscripts (excluding Mutations in Brief)
Formatting of manuscripts: Manuscripts must be formatted as double-spaced , 8½ x 11 inch or A4 documents with 1" margins all around. A 12-point font (preferably Times New Roman) should be used, but common Greek letters, symbols, or special characters are allowed.
Submission of figures: Though we strongly encourage online submission, the journal may require two original quality hard copies of all figures should a manuscript be accepted for publication. This will ensure the highest possible quality of figure reproduction.
Color figures policy: Color figures are welcome but published only at cost to the author; quotes will be provided from the publisher upon acceptance. All color figures will be reproduced in full color in the online edition of the journal at no cost to authors. Authors are encouraged to submit color illustrations that convey essential scientific information. For best reproduction, bright, clear colors should be used. Dark colors against a dark background do not reproduce well; please place your color images against a white background wherever possible. There are no page charges for publication, other than for color reproduction. Please contact Production Editor Michele Heal at (201) 748-6492 or by e-mail at mheal@wiley.com for further information.
Article types:
Research Articles, Methods, and Rapid Communications must contain sections in the following order: Title Page, Abstract, Key Words, Introduction, Materials and Methods, Results, Discussion, Acknowledgments (optional), References, Tables, and Figure Legends. (Long tables and excessive figures may be published as online Supporting Information.) Use generic names of drugs and give manufacturer of all trademarked equipment mentioned in the text. Research Article page limits are normally 20–30 double-spaced manuscript pages, including references. Methods articles should not exceed ~25 manuscript pages with references. Rapid Communications should not exceed 20 manuscript pages with references and may include 1–2 tables and/or figures as needed. To facilitate rapid review of Rapid Communications, kindly contact the Managing Editor prior to submission of the manuscript for advice on appropriateness of subject.
Database Articles must include an Abstract (180–200 words), but otherwise can contain headings appropriate to the subject discussed. Figures and tables are encouraged. Length should be approximately 18–25 double-spaced manuscript pages with references. Extra data can be published online.
Mutation Updates must include an Abstract (180–200 words), Key Words, and specific headings such as Mutations and Polymorphisms Defined, Genotype-Phenotype Correlation, Biological Significance, Clinical Significance, Diagnostic Strategies, and Future Prospects. They normally range from 15–20 double-spaced pages of text without references. Clear tables with the correct mutation nomenclature are required and figures are encouraged. Mutation Updates are usually invited but the Editors welcome proposals and suggestions for topics. Authors may use Mutation Updates to publish some novel mutations/polymorphisms for the first time only if accompanied by verification of variant sequence and proof of causation (see Validation of Mutations, above). Very long tables and/or extra data can be published online as Supporting Information.
Important: Please write Rania Horaitis (r.horaitis@hfi.unimelb.edu.au), to suggest a topic and to receive the latest author guidelines (new as of April 2008).
Review Articles cover a specific topic through an appropriate literature survey. An Abstract (180-200 words) and Key Words are required. Although there are no restrictions on the number of pages or figures, the Review should be as concise as possible. Review Articles are usually invited. The Editors welcome proposals and suggestions for topics.
Mutations in Brief
Submission of MIBs: Authors must use the Microsoft Word Template , which is available with detailed instructions online at http://www3.interscience.wiley.com/cgi-bin/jabout/38515/TemplateSubmissionInstructions.html. The submission must contain the figures and tables in electronic form. MIBs should be submitted via the online submission system http://mc.manuscriptcentral.com/humu/. Improperly formatted submissions may be returned prior to review until the formatting is corrected.
MIB Length and format: An Abstract of 180–200 words and a list of Key Words are required. There should be approximately 1,500-3,000 words of text, including a brief Introduction, Materials and Methods, Results, and Discussion, and 2-3 figures and/or tables as deemed appropriate by the reviewers and Editors. Sequencing gels are generally considered for review purposes only. MIB length should be 6-10 pages and references should be as limited as possible. Longer articles describing mutations and polymorphisms/SNPs, genotype/phenotype correlation, functional analysis, population studies, or methods-based reports may occasionally be published. No charge will be levied for color illustrations published in MIBs.
Should you have any questions regarding content and submission of MIBs, please contact the Managing Editor (humu@wiley.com).
REFERENCE STYLE
Wiley's Journal Styles Are Now in EndNote. EndNote is a software product that we recommend to our journal authors to help simplify and streamline the research process. Using EndNote's bibliographic management tools, you can search bibliographic databases, build and organize your reference collection, and then instantly output your bibliography in any Wiley journal style.
Download Reference Style for this Journal: If you already use EndNote, you can download the reference style for this journal. If you cannot find the style for this journal, use that for American Journal of Medical Genetics.
How to Order: To learn more about EndNote, or to purchase your own copy, click here.
Technical Support: If you need assistance using EndNote, contact endnote@isiresearchsoft.com, or visit www.endnote.com/support.
The accuracy of references is the responsibility of the authors. Only published papers and those in press may be included in the reference list. Unpublished data and submitted manuscripts must be cited parenthetically within the text. Personal communications should also be cited within the text; permission in writing from the communicator is required. References cited only in Supporting Information should still be added to the main Reference list (confirm if this is the case in a cover letter).
Citations in the text should be made by author name followed by year of publication, arranged chronologically and then alphabetically (e.g., Hershkovitz and Leipe, 1998; Jones, 2000). For three or more authors, use the first author's name and "et al." in citation. When references are made to more than one paper by the same author, published in the same year, they are to be designated as a, b, etc. in alphabetical order of the second author (e.g., Smith et al., 1998, 2000a, 2000b).
In the reference list, references are to be arranged alphabetically listing all authors, and then by year of publication. Journal titles should be abbreviated according to Index Medicus; the titles of unindexed journals should be spelled out in full. Examples:
Journal article
Pollin TI, Dobyns WB, Crowe CA, Ledbetter DH, Bailey-Wilson JE, Smith ACM. 1999. Risk of abnormal pregnancy outcome in carriers of balanced reciprocal translocations involving the Miller-Dieker syndrome (MDS) critical region in chromosome 17p13.3. Am J Med Genet 85:369-375.a
Book chapter
Hershkovitz MA, Leipe DD. 1998. Phylogenetic analysis. In: Baxevanis AD, Ouellette BFF, editors. Bioinformatics: a practical guide to the analysis of genes and proteins. New York: Wiley-Interscience. p 189-230.
Book
Miesfeld RL. 1999. Applied molecular genetics. New York: Wiley-Liss, Inc.
PROVIDING WEB ADDRESSES (URLs)
We encourage authors to use URLs to identify databases, software tools, laboratory web pages, or other useful resources (inclusion subject to editorial review).
- URLs should be cited directly in the text, and not listed in the References. Recent literature references for web sites (e.g., databases) should be included if available. In order to avoid "dead links," authors are responsible for verifying all URLs added.
- URLs for author-supported web sites should be submitted to an archive site for preservation. Authors may submit digital copies of any electronic information at the time of submission to a digital archive, such as the Internet Archive (IA; http://www.archive.org; E-mail: info@archive.org), or provide a reasonable explanation of why this cannot be done. Web pages, including subdirectories, are submitted at http://pages.alexa.com/help/webmasters/index.html#crawl_site. NOTE: Active content (e.g., query interfaces, animations) may require different preservation options. Visit IA and Alexa online for futher information.
FURTHER MANUSCRIPT INSTRUCTIONS
For further detailed instructions regarding submission of manuscripts and disk preparation, please contact the Editorial Office (humu@wiley.com). For production questions, please contact: Michele Heal, John Wiley & Sons, Inc. 111 River Street, Hoboken, NJ 07030-5774, USA, Phone: 201-748-6492; Fax: 201-748-6052; E-mail: mheal@wiley.com
GUIDELINES FOR ELECTRONIC SUBMISSION
Text and Tables
Software and format. Microsoft Word for Windows 2000 or lower is preferred, although manuscripts prepared using any other microcomputer word processor are acceptable. Please note: This journal does not accept Microsoft Word 2007 documents at this time. Please use Word’s “Save As” option to save your document as an older (.doc) file type. Refrain from complex formatting; the Publisher will style your manuscript according to the Journal design specifications. Do not use desktop publishing software such as Aldus PageMaker or Quark XPress. If you prepared your manuscript using one of these programs, export the text to a word processing format. Please make sure your word processing program's "fast save" feature is turned off. Please do not deliver files that contain hidden text: for example, do not use your work processor's automated features to create footnotes or reference lists. Macintosh users should maintain the MS-DOS "eight dot three" file-naming convention.
Tables. Submit the text and tables of each manuscript as a separate files. Text files should be given the three-letter extension that identifies the file format. Tables should each include their titles and legends and should be in MS Word table format, not images of tables inserted into a *.doc file. Tables should not be in Excel (*xls) format - if this presents a problem, please mention in the cover letter.
Illustrations
All print reproduction requires files for full color images to be in a CMYK color space. If possible, ICC or ColorSync profiles of your output device should accompany all digital image submissions.
Software and format. All illustrations files should be in TIFF or EPS (with preview) formats. Do not submit native application formats.
Resolution. Journal quality reproduction will require greyscale and color files at resolutions yielding approximately 200 ppi. If you anticipate that your images will be enlarged or reduced, resolutions should be adjusted accordingly.
Refer any questions pertaining to electronic text and electronic art preparation to:
Michele Heal
John Wiley & Sons, Inc.
Telephone: 201-748-6492
Fax: 201-748-6052
Email: mheal@wiley.com
Editorial Board
Editors
DR. RICHARD G.H. COTTON
Director, Genomic Disorders Research Centre
St. Vincent's Hospital
Melbourne, Australia
DR. GARRY R. CUTTING
McKusick-Nathans Institute of Genetic Medicine
Departments of Pediatrics and Medicine
The Johns Hopkins Medical Institutions
Baltimore, Maryland, USA
Founding Co-Editor (1992-2007)
DR. HAIG H. KAZAZIAN, JR.
Managing Editor
Dr. Mark H. Paalman
Human Mutation Editorial Office
John Wiley & Sons, Inc.
111 River Street
Hoboken, NJ 07030-5774
Phone: (201) 748-6404
Fax: (201) 748-6398
E-mail: humu@wiley.com
Editorial Assistant
Christine Murray
Coordinator, Mutation Updates and Reviews
Ourania Horaitis
Mutation Nomenclature Editor
Johan den Dunnen
Advisory Editors
Sir Walter F. Bodmer
C. Thomas Caskey
Francis S. Collins
Leroy E. Hood
Y.W. Kan
Eric S. Lander
Douglas C. Wallace
Sir David Weatherall
Communicating Editors
Stylianos E. Antonarakis
Jacques S. Beckmann
Christophe Béroud
Anthony J. Brookes
Alastair F. Brown
Peter Byers
Stephen Chanock
Georgia Chenevix-Trench
Jing Cheng
Mireille Claustres
David N. Cooper
A. Jamie Cuticchia
Henrik Dahl
Ian N.M. Day
Michael Dean
Albert de la Chapelle
Johan den Dunnen
Claude Férec
Riccardo Fodde
Paolo M. Fortina
Andreas Gal
Arupa Ganguly
David E. Goldgar
Michel Goossens
Bruce Gottlieb
Marc Greenblatt
Jürgen Horst
Peter Humphries
Haig H. Kazazian
Jan P. Kraus
Pui-Yan Kwok
Ulf Landegren
Finlay Macrae
Christopher G. Mathew
Iain McIntosh
John McVey
Arnold Munnich
Daniel W. Nebert
Elizabeth F. Neufeld
Mats Nilsson
Peter J. Oefner
William S. Oetting
Sergio Ottolenghi
Maria Rita Passos-Bueno
George P. Patrinos
Reed E. Pyeritz
Ming Qi
David L. Rimoin
Peter K. Rogan
David S. Rosenblatt
Ravi Savarirayan
Daniel F. Schorderet
Hamish Scott
Nobuyoshi Shimizu
Rolf H. Sijmons
William S. Sly
Nancy B. Spinner
Dominique Stoppa-Lyonnet
Sean V. Tavtigian
Graham R. Taylor
Mario Tosi
Christine Van Broeckhoven
Mauno Vihinen
Hans R. Waterham
Andrew O. M. Wilkie
Richard Wooster
Johannes Zschocke
Journal Production
John Wiley & Sons
Michele Heal
Human Mutation
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