American Journal of Medical Genetics Part A

Cover image for Vol. 164 Issue 5

Edited By: John C. Carey

Impact Factor: 2.304

ISI Journal Citation Reports © Ranking: 2012: 95/161 (Genetics & Heredity)

Online ISSN: 1552-4833

Associated Title(s): American Journal of Medical Genetics Part B: Neuropsychiatric Genetics


Author Guidelines


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Publication Forms



Author Guidelines


The American Journal of Medical Genetics Part A welcomes the submission of your manuscript. We emphasize the importance of following these instructions carefully. Failure to do so will delay the processing of your manuscript. We also ask that you consult the Journal’s mission statement and consider if your submission fits into our focus.

Manuscript Submission

Authors should carefully review and implement these instructions. We will return manuscripts that do not substantially conform to specifications. If questions remain, authors may contact the editorial office for guidance at ajmg@hsc.utah.edu. When necessary, the editorial staff can refer unanswered questions to the Editor or Deputy Editor. Electronic mail is preferred for editorial correspondence.

Submission policy: Manuscripts should be submitted solely to this JOURNAL and may not have been published, or be under consideration for publication, in any substantial form in another periodical—professional or lay. If there is a related paper under consideration at another journal, a copy of that paper should be submitted with the primary manuscript as supporting information.

Please note: The American Journal of Medical Genetics Part A now accepts Microsoft Word 2007 and 2010 .docx files. Please save your documents as .doc or .docx files.

COPE
The American Journal of Medical Genetics Part A is a member of, and subscribes to the principles of, the Committee on Publication Ethics (COPE) (www.publicationethics.org).

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 visit the website http://www.wiley.co.jp/journals/editcontribute.html.

Authors in China please note: Authors in China can visit the Author Resources site on WileyChina.com for additional resources, including tips for English writing skills, and bilingual, short presentations on different topics of interest.


Conflict of Interest Disclosure
Wiley-Blackwell requires that all authors disclose any potential sources of conflict of interest. Any interest or relationship, financial or otherwise, that might be perceived as influencing an author’s objectivity is considered a potential source of conflict of interest. These must be disclosed when directly relevant or indirectly related to the work that the authors describe in their manuscript. Potential sources of conflict of interest include but are not limited to patent or stock ownership, membership of a company board of directors, membership of an advisory board or committee for a company, and consultancy for or receipt of speaker’s fees from a company. The existence of a conflict of interest does not preclude publication in this journal.

If the authors have no conflict of interest to declare, they must also state this at submission. It is the responsibility of the corresponding author to review this policy with all authors and to collectively list in the cover letter to the Editor-in-Chief, in the manuscript (under the Acknowledgments section), and in the online submission system ALL pertinent commercial and other relationships.

On-line submission & review. The JOURNAL requires online submission and peer-review of articles. Any exceptions to the submission procedure must be approved by the editorial office. Authors should upload their manuscripts (including images, tables, references, etc) and all editorial correspondence at the JOURNAL website: http://mc.manuscriptcentral.com/ajmg-a

Ethical compliance. If applicable, the editorial office should receive assurance that work 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 humans, the authors must provide either of these two assurances: (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 the cover letter to the editor that the manuscript is a retrospective case report that does not require ethics committee approval at that institution. Any other situations not covered by these two scenarios should be discussed with the editorial staff.

Photographs. The JOURNAL welcomes submissions with images of patients because these images are a substantial component of scientific observation and documentation in medical genetics. The JOURNAL encourages all prospective authors to work with families prior to submission to address the issue of permission for editorial review and for potential publication of patient images. If your submission contains ANY identifiable patient images, you MUST provide documented permission from the patient (or the patient's parent, guardian, or legal representative) before the specific material will be circulated among JOURNAL editors, reviewers and staff for the purpose of possible publication in AJMG. The documented permission may be supplied as supplemental material uploaded with the submission or faxed to the editorial offices at 801-585-6623. While the manuscript will be processed upon submission, any images considered protected health information and identifiable will be restricted from access prior to the receipt of documented permission. We caution you that the absence of material or cited figures may adversely impact the manuscript in the peer-review process. The submission of masked photos (i.e., facial photographs with dark geometric shapes over the eyes) and photographs with profiles are not considered adequate deidentification and cannot be published as such. Also we would request that authors translate the content of all permission forms that are in a language other than English, and that translation will be required before publication of identifiable images.

Components of the Submission

Cover letter: Authors must submit a cover letter, in a separate file, stating that all contributors have read and approved the submission to the JOURNAL. Submission of a paper by a student, fellow, house-officer, or other kind of trainee implies that the first author has obtained, if necessary local approval of submission.

Journal Manuscript Formats. In addition to regular reports of original research, the journal publishes material in the following categories.

Research Articles. The JOURNAL seeks papers reporting exciting, original research in medical genetics.

Clinical Reports. These reports should be concise and focused. They should address observations of patients or families that add substantially to the knowledge of the etiology, pathogenesis and delineation of the natural history or management of the condition described. Reports that involve cytogenetic observations should include molecular cytogenetic definition of the aberration. Reports should include an abstract and key words. These papers should be no more than 12 double spaced manuscript pages in length (including text, figures, tables, and references).

New Syndrome? This is for (non-cytogenetic and nonmetabolic) cases of possible new syndromes observed in sporadic and familial instances. Before submission, standard genetic databases and the literature should have been searched to exclude similar cases. The number of authors on such clinical reports should be kept to a minimum. Avoid duplication of text and legends within the paper. It is not appropriate to include a wideranging review of the literature with these reports.

Editorial Comments. This type of paper is generally solicited but is a submission welcomed from all contributors. They should have a title page and be accompanied by a list of key words for indexing purposes. Editorials are invited by the editors and often address matters of interest or controversy to the readership.

Research Letters. These are very brief reports offered in a letter format reporting a clinical or laboratory observation that adds to the scientific knowledge of the condition. They are no more than 9 double spaced manuscript pages including text, figures, and references. As in all letters, the manuscripts are not subdivided into sections nor do they include an abstract. Key words are required for indexing purposes.

Correspondence. These are letters to the editor and generally comment on previously published work in the JOURNAL. These are kept brief and to the point. Like all other material published in the JOURNAL, correspondence is subject to editorial or peer review. The corresponding author of the original manuscript which is the subject of the submitted letter will be offered the opportunity to respond. If a response is provided, every effort will be made to publish these letters together. Only one round of comment is allowed. No key words need to be supplied, but on proofs, words should be circled for indexing purposes.

Rapid Publications. The Journal features a section devoted to the rapid communication of full-length, critically reviewed papers reporting new and important advances in medical genetics. Our goal is that these manuscripts will be published one and a half months after acceptance. In order to have a manuscript considered for rapid publication, authors must send a letter of intent along with an abstract to the Editor for consideration prior to submission. The letter of intent should outline the author’s rationale for publishing the article as a rapid publication. The Editor or Deputy Editor will respond to the author with a decision. Manuscripts accepted for Rapid publication must adhere to the format of a research article in the JOURNAL.

Reviews. The JOURNAL publishes occasional research reviews. Authors should contact the Editor prior to submission.

Manuscript terminology. Manuscript wording and terminology should reflect the Journal’s preferred criteria in describing and referring to human beings. Individuals described within a manuscript should be regarded with sensitivity. They should be referred to as patients rather than cases or as having a condition rather than being simply labeled by a specific terminology. Consider and avoid any stigmatizing terms, such as simian. If it is necessary to identify an individual, use a numerical designation (e.g. Patient 1) rather than using any other identifying notations such as initials.

Animal studies. Manuscripts that describe results of vertebrate animal research must include a statement that the research was prospectively reviewed and approved by a duly constituted animal care and use committee.

Copyright/Licensing

If your paper is accepted, the author identified as the formal corresponding author for the paper will receive an email prompting them to login into Author Services; where via the Wiley Author Licensing Service (WALS) they will be able to complete the license agreement on behalf of all authors on the paper.

For authors signing the copyright transfer agreement:
If the OnlineOpen option is not selected the corresponding author will be presented with the copyright transfer agreement (CTA) to sign. The terms and conditions of the CTA can be previewed in the samples associated with the Copyright FAQs below:
CTA Terms and Conditions http://authorservices.wiley.com/bauthor/faqs_copyright.asp

For authors choosing OnlineOpen: If the OnlineOpen option is selected the corresponding author will have a choice of the following Creative Commons License Open Access Agreements (OAA):
Creative Commons Attribution Non-Commercial License OAA
Creative Commons Attribution Non-Commercial -NoDerivs License OAA

To preview the terms and conditions of these open access agreements please visit the Copyright FAQs hosted on Wiley Author Services http://authorservices.wiley.com/bauthor/faqs_copyright.asp and visit http://www.wileyopenaccess.com/details/content/12f25db4c87/Copyright--License.html.

If you select the OnlineOpen option and your research is funded by The Wellcome Trust and members of the Research Councils UK (RCUK) you will be given the opportunity to publish your article under a CC-BY license supporting you in complying with Wellcome Trust and Research Councils UK requirements. For more information on this policy and the Journal’s compliant self-archiving policy please visit: http://www.wiley.com/go/funderstatement.

For RCUK and Wellcome Trust authors click on the link below to preview the terms and conditions of this license:
Creative Commons Attribution License OAA

To preview the terms and conditions of these open access agreements please visit the Copyright FAQs hosted on Wiley Author Services
http://authorservices.wiley.com/bauthor/faqs_copyright.asp and visit http://www.wileyopenaccess.com/details/content/12f25db4c87/Copyright--License.html.


Manuscript Review

The Editor, Deputy Editor, or an Associate Editor will review all manuscripts submitted to the JOURNAL. For those manuscripts judged to be suitable, anonymous peer reviewers (most commonly two) will evaluate each manuscript.

Preferred/nonpreferred reviewers. Authors are encouraged to suggest the names of appropriate peer reviewers, as well as individuals they wish to exclude from manuscript review, most commonly because of conflicts of interest. The editors reserve the right to accept or decline these requests.

Response to reviews. A paper judged to be of sufficient interest and quality, but needing changes prior to publication, will be revised by the authors in response to the reviewers’ and editor’s critiques. Include a cover letter with the revised manuscript that specifies in a point-by-point fashion each criticism/ comment from the editor(s) and peer reviewers with the appropriate response from the author.

Final proofreading. Before publication, all manuscripts will be copyedited for style, grammar, and content; the author will review such editing of the manuscript in page proofs. Authors are responsible for verification of references against original sources.

Fluency in English. The JOURNAL has a long history of encouraging scientific communication from geneticists outside of North America. We believe that the exchanges of cases, hypotheses, and data among scientists from every country will accelerate discovery and understanding in medical genetics. If authors are not fluent in written medical and scientific English, they are strongly encouraged to have their manuscripts reviewed and edited by an expert English writer prior to submission. This will increase the chances that the paper will be accepted and will speed the publication of those manuscripts that are accepted.

Authors in Japan please note: Wiley-Japan can provide authors in Japan with a list of recommended services to check and improve the English of their papers before submission. Please visit http://www.wiley.co.jp/journals/editcontribute.html for more information.

Authors in China please note: Authors in China can visit the Author Resources site on WileyChina.com for additional resources, including tips for English writing skills, and bilingual, short presentations on different topics of interest.

Checklist for Authors: Follows the order of elements for a paper submitted to the JOURNAL

General. Authors are advised to read the instructions carefully, use the checklist, and carefully review actual published articles in recent issues of the JOURNAL. Seeing the style in print will clarify the instructions. Please do not improvise.

_____ Font: A standard, easy to read font (Times New Roman, Helvetica, Arial, etc)
_____ Margins: 1 inch margins all around. Flush left only, do not justify right margin.
_____ Header: In upper right hand corner, provide pagination and "author name et al."
_____ Spacing: Double space text with no additional spaces between subheadings.
_____ Page break between sections, but continuous from Introduction until the end of Acknowledgments. New pages for Title, Abstract, References, Figure Legends, and each Table.
_____ Indent first sentence of every new paragraph, except first sentence of Abstract.

Title page . Every submission must have a title page. The title page carries a concise title, the first and last names of each contributor (without degrees or titles), identification of each contributor’s affiliation, a running title of no more than 45 characters, and the name, complete address, telephone and fax numbers, and email address of the contact person assuming responsibility for all correspondence and questions relating to the article. If the contact person moves from the place of his/her original affiliation, he/she should notify the editorial office. Note that Scholar One Manuscripts requires manual entry of authors and their affiliations.

_____ Title with first letter of each important word capitalized.
_____ All authors listed followed by their affiliation listing. Use superscript for affiliations.
_____ Corresponding author contact information.

Abstract. The abstract (page 2 of MS) should be a succinct condensation of the contents of the article and not exceed 250 words. The abstract should present the essential points made in the article, the purpose of the research, a coherent summary of the findings, and a concise presentation of the conclusions. It should contain nothing that is not in the article. Literature citations and abbreviations are discouraged and should only be used if essential.

Key words. The key words should reflect the central topic of the article. Key words should be typed on the page following the abstract and labeled as such. Since the key words will be used for indexing, they should be specific and avoid terms that may be broadly interpreted. Authors are strongly encouraged to use MeSH terms for indexing (http://www.ncbi.nlm.nih.gov/entrez/ query.fcgi?db=mesh).

Running heads. If the article has less than four authors, the surnames of all authors will be used as a left-hand page running head. If there are four or more, the form ‘‘Doe et al.’’ will be used. Authors are requested to provide a shorter version of the article title (45 characters or less, including spaces) to be used as a righthand page running head. These running heads (author and short title) should be included on the title page.

Text. Articles, though not limited in length, should be concise. Authors can consult Scientific Style and Format, The CBE Manual for Authors, Editors and Publishers, 6th ed [Cambridge: Council of Biology Editors, 1994]. In addition to standard dictionaries and grammar texts, E. B. White’s edition of Strunk’s Elements of Style (4th edition) [NYC: Allyn & Bacon, 2000] is also a valuable guide.

The manuscript text after the Title and abstract pages (if applicable) should follow the format: Introduction, Materials and Methods, Results, and Discussion run together consecutively. The use of subheads and paragraph titles is encouraged. The last element of the text before the references is the acknowledgments. A sample article can be found on the JOURNAL’s homepage.

_____ Headings: All caps, bold, centered over text.
_____ Definitions: Initial definitions should be provided for unusual abbreviations. Definitions are not used at the beginning of a sentence.
_____ Units of measurement: Authors should abbreviate units of measurements according to the Style Manual for Biological Journals, American Institute for Biological Sciences, 1401 Wilson Boulevard, Arlington, VA 22209. All measurements should be in metric units or other internationally accepted units.
_____ Style preferences: The preferred spelling for a word is its American usage (e.g. recognize, rather than recognise).
_____ Patient identifiers such as initials should not be used. Individuals are described as patients, not cases.

References. Discursive comments of a subsidiary nature should not be included in the reference list but should appear as footnotes placed at the bottom of the page and identified by an asterisk, a dagger, etc. References should be made to original publications and not to reviews, unless a general topic is referred to. References should be verified against original publications and not against citations by others. Persons acknowledged or cited under "personal communications" must send signed permission for use of their name and/or data.

The reference list should be arranged in alphabetical order.

References should be cited by author and year of publication in the text and in alphabetical order in the bibliography without numbering. This citation should be in brackets and NOT in parentheses in order to distinguish citations from subsidiary comments. References should be doubly spaced. Articles that have been submitted for publication and personal communications should be cited parenthetically in the text; these references should not be included in the reference list.

Abbreviations used in the reference list of journals should conform to the style of Index Medicus. You must specify every author in the bibliography entry. Rare exceptions to this may be made for publications with huge numbers of authors (e.g., more than 100 authors). Please contact the editorial staff for information on this issue. The following guides are advocated for reference styles:

For Journals: Pinter R, Hogge WA, McPherson E. 2004. Infant with severe penicillamine embryopathy born to a woman with Wilson disease. Am J Med Genet Part A 128A:294–298.

Books: Reece RJ. 2004. Analysis of Genes and Genomes. New York: Wiley-Liss. 469 p.

Chapter in Book: Hunter AGW. 2005. Down syndrome. In: Cassidy SB, Allanson JE, editors. Management of Genetic Syndromes, 2e. New York: Wiley-Liss, p 191–210.

References to government publications should include the department, bureau or office, title, location of the publisher, year, pages cited, and the publication series, report, or monograph.

_____ References are cited in text with brackets, not parentheses.
_____ References in bibliography are alphabetized, without numbering.
_____ Every author is specified.
_____ Authors’ name punctuation is limited to commas between authors.
_____ Page numbers include beginning and ending page number (e.g., do not use the 1083-9 convention).

If you wish to use EndNote, please be aware that you MUST list all author names. ‘And others’ and ‘et al.’ are NOT acceptable for references. If you do not list all author names in the bibliography it will be returned to you to have all authors added.

Legends. A separate page for figure legends should be included within the MS file after the references. Legends need not be complete sentences but should enable the reader to identify the components of the figure without referring back to the text. The legend should explain what is being illustrated. It is not sufficient to say ‘‘Facial photograph of the patient’’. Instead, one should describe the abnormal findings illustrated by the figure. Explain abbreviations that appear on the figure. Identify all elements of every figure using descriptive phrases, especially elements of pedigrees.

If the figure presents alphabetic labeling (i.e. A, B, C, etc.), the legend should be typed to reflect the exact presentation of those alphabetics. Table heads should be typed on the tables and not provided as separate table legends. Tables should be labeled and referred to using Roman numerals.

Pedigrees should be drawn according to published standards (See AJHG 1995 56:745-752).

Illustrations. Scholar One Manuscripts allows the uploading of digital image files. These are entered separately from the manuscript text file (do NOT include the images with the manuscript text file). PostScript (.eps) and TIFF (.tif) files are the only acceptable formats that can be used. Image sizes for review purposes should be sufficient to allow reviewers to clearly see the elements of the figure, but should not be excessively large (recall that some reviewers may download a file via modem.)

All color figures will be reproduced in full color in the online edition of the journal at no cost to the authors. Authors are requested to pay the cost of reproducing color figures in print (upon acceptance of the manuscript, the publisher will provide price quotes). Authors are requested to indicate in a cover letter when they are submitting black and white figures for the print edition and color illustrations for the online edition. Figures that print in b/w but appear online in color should have the following line at the end of the legend: [Color figure can be viewed in the online issue, which is available at http://onlinelibrary.wiley.com/journal/10.1002/(ISSN)1552-4833.] Authors are encouraged to submit color illustrations that highlight the text and 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.

Tables. Tables must be self-explanatory and must not duplicate information in the text. Each table must have a title and should be numbered with Roman numerals in order of appearance in the text. Any symbols and abbreviations used in the table body must be defined in a footnote to the table. Tables are the penultimate part of the MS, and follow the references but precede the legends.

_____ Set up the Table in Word single spaced using the ’Table’ tool.
_____ Center column headings over data.
_____ Put the Abbreviations in a footnote.

Supplementary online material. Authors are invited to submit supplementary material for their articles to be posted in the electronic version of the JOURNAL on Wiley Online Library (wileyonlinelibrary.com/journal/ajmg). Supplementary material may include (but is not limited to) video clips, large sections of tabular data, program code, or electronic graphical files that are otherwise not suitable for print media. Supplementary material must be submitted at the time of peer review.

  1. For supplementary data other than simple image files, the data and the README file should be archived together using one of the popular archive protocols such as ZIP, TAR, GZIP, or SIT. If you have more than one piece of supplementary material, you should submit a separate archive for each, with an accompanying README file, however, if it is intended that the multiple files be downloaded as a single unit by the end user, submit one archive and one README file.
  2. Data file types. There are no restrictions on file types of the data that you submit. Please keep in mind, however, that the more universal the file type the more accessible it is to the community. The use of popular compression protocols is highly encouraged. If your material is presented in PostScript format, it will be converted to an Adobe Acrobat PDF file.
  3. Publication and Access. Supplementary material for published articles will be made available via the online edition of the JOURNAL (http://wileyonlinelibrary.com/journal/$1 ajmg).

Linking to databases. Authors may submit genetic and protein database information with their manuscript for the databases listed below and a hypertext link will appear in the online version of the article.

The Genome Database (GDB)
Protein Databank (PDB)
GenBank
Online Mendelian Inheritance in Man (OMIM)
Molecular Modeling Database (MMDB)
Entrez Genomes
Entrez Proteins
European Molecular Biology Laboratory (EMBL)
SpecInfo
ExPasy

Gene and Mutation Nomenclature. Authors are required to use approved gene symbols, names, and formatting. Units of measurement should be abbreviated according to the Style Manual for Biological Journals, American Institute for Biological Sciences, 1401 Wilson Boulevard, Arlington, VA 22209. All measurements should be in metric units or other internationally accepted units. Initial definitions should be provided for abbreviations or acronyms. Gene name abbreviations (e.g. PAX3) should be italicized while proteins should not. Please use the recommended mutation nomenclature (See Wain HM, Bruford EA, Lovering RC, Lush, MJ, Wright MW, Povey S. 2002. Guidelines for Human Gene Nomenclature. Genomics 79:464– 470 or on the web http://www.gene.ucl.ac.uk/nomenclature/ guidelines.html)

Alternative formats may be used if an appropriate citation is given. The use of unique gene-specific nomenclature systems is discouraged unless they are well established and widely used for that gene. All mutations must be related to a cited reference sequence.

Acceptable abbreviations: BW (birth weight), BL (birth length), TBL (total body length until height is used on growth chart), OFC (occipitofrontal head circumference), TRC (total ridge count), CHD (specified congenital heart defect) and other standard dermatoglyphic symbols (q.v. Penrose LS: Memorandum of dermatoglyphic nomenclature, BD:OAS IV/3, June 1968).

Electronic File

Electronic proofing. To expedite our publication schedule, page proofs are available in .pdf format. Files in this format are viewed using Adobe Acrobat Reader, which is available as a free download at http://www.adobe.com. Page proofs will be available for review (this usually takes about three weeks from receipt at Wiley). You will receive information about file access (via ftp or Internet browser) directly from the typesetters. Proof corrections should be returned immediately by fax, e-mail, or express mail to Christopher Sannella, c/o John Wiley &Sons, Inc., 111 River St., Mail Stop 8-02, Hoboken, NJ 07030. FAX: 201-748- 6281; E-mail: csannell@wiley.com

Color 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 color illustration files should be in TIFF or EPS (with preview) formats. Do not submit native application formats. As noted above, pdf files cannot be used for production.

Resolution. Journal quality reproduction will require grayscale and color files at resolutions yielding approximately 300 ppi. Bitmapped line art should be submitted at resolutions yielding 600–1200 ppi. These resolutions refer to the output size of the file; if you anticipate that your images will be enlarged or reduced, resolutions should be adjusted accordingly.

Books for review should be sent to the JOURNAL main editorial office. The postal address is: Dr. John C. Carey, Editor, American Journal of Medical Genetics , 419 Wakara Way, Suite 213, Salt Lake City, UT 84108.

MGGM This journal works together with Wiley's Open Access Journal, Molecular Genetics & Genomic Medicine (MGGM), to enable rapid publication of good quality research that is unable to be accepted for publication by our journal. Authors may be offered the option of having the paper, along with any related peer reviews, automatically transferred for consideration by the Editor of MGGM. Authors will not need to reformat or rewrite their manuscript at this stage, and publication decisions will be made a short time after the transfer takes place. The Editor of MGGM will accept submissions that report well-conducted research which reaches the standard acceptable for publication. MGGM is a Wiley Open Access journal and article publication fees apply. For more information please do to www.mggmjournal.com.

Reprints: Reprints may be purchased at https://caesar.sheridan.com/reprints/redir.php?pub=10089&acro=ajmga
???Production Questions???

Christopher J. Sannella
John Wiley & Sons, Inc.
E-mail: csannell@wiley.com
Telephone: 201-748-5949
Fax: 201-748-8852 or 201-748-6281


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