Clinical Genetics

Cover image for Vol. 88 Issue 6

Edited By: Michael R. Hayden

Impact Factor: 3.931

ISI Journal Citation Reports © Ranking: 2014: 42/167 (Genetics & Heredity)

Online ISSN: 1399-0004

Author Guidelines

Manuscript Central Submission
Clinical Genetics only accepts manuscripts submitted via Manuscript Central. To access this system go to Complete instructions for preparing and submitting manuscripts online are provided at the submission site. Please note that docx files are compatible with the journal submission system.

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

 Aims and Scope
Clinical Genetics links research to the clinic, translating advances in our understanding of the molecular basis of genetic disease for the practising clinical geneticist. The journal publishes high quality research papers, short reports, and reviews that connect medical genetics research with clinical practice.
Topics of particular interest are:
• Linking genetic variations to disease
• Genome rearrangements and disease
• Epigenetics and disease
• The translation of genotype to phenotype
• Genetics of complex disease
• Management/intervention of genetic diseases
• Novel therapies for genetic diseases
• Developmental biology, as it relates to clinical genetics
• Social science research on the psychological and behavioural aspects of living with or being at risk of genetic disease

Editorial Policy
Clinical Genetics aims to become a leading journal in the field by keeping the reader up-to-date on the latest developments in current literature, providing on-line access and publishing research of the highest quality.

The Editorial Board is dedicated to a rapid response to authors and the rapid publication of manuscripts. Accepted manuscripts are normally published within 12 weeks after critical review and acceptance.

Clinical Genetics employs a plagiarism detection system. By submitting your manuscript to this journal you accept that your manuscript may be screened for plagiarism against previously published works.

Original Articles
Original articles feature novel findings and developments. Manuscripts can be up to 6,000 words in length (including abstract, figures, tables and references) and can include up to seven figures and/or tables. Contributions intended for publication as an Original Article should be so labeled.

Short Reports
Short Reports should not exceed 2500 words in length (including references and abstracts) and can include up to three figures and/or tables.

Letters to the Editor
Letters focus on new findings. Letters should not exceed 800 words, and can include one table and one figure. The word count of 800 includes up to eight references. Abstract and key words should not be included in the submission. Contributions intended for publication as a letter should be so labeled.

This section consists of readers' correspondence regarding any article published in Clinical Genetics. The authors of the article in question will be invited to respond. Please note that this is done prior to acceptance, so it does not suggest that your Correspondence will be published. A Correspondence will only be published if deemed to be of interest to our readership and of a sufficient scientific standard. Due to tremendous space constraints on the journal, we can only publish approximately 20 percent of our submissions. Correspondence should not exceed 300 words.

Other Submissions
Special features of the journal include Reviews, HotSpots, Developmental Biology, Social and Behavioural Research, Images in Genetics, as well as Novel Gene Discoveries.

This section highlights current developments in relevant areas of medical genetics. Authors can provide reviews of topics of particular interest. Manuscripts can be up to 7500 words in length, including abstract, figures, tables and references. A maximum of seven figures and/or tables can be included. Reviews are invited, but please check with the Editor-in-Chief prior to submitting.

This section surveys important developments in current literature. The section is usually comprised of reviews of at least three published manuscripts. HotSpots are approximately 2,250 words in length (750 words per review). Manuscripts are invited, but you may check with the Editor-in-Chief if you are interested in submitting to this new section.

Developmental Biology: Frontiers for Clinical Genetics
Section Editors: Jacques Michaud and Bruno Reversade
This section appears every two months, and features new developments in developmental biology and their relevance for clinical genetics. Manuscripts to this section are invited. However, you may check with the Section Editors if you are interested in submitting.

Images in Genetics
Section Editor: Albert E. Chudley
This section is devoted to interesting images in genetics, such as unpublished phenotypes, artistic representations of genetic material as they appear in drawing or paintings, and so on. Check with the Section Editor if you have an idea for submission.

Social and Behavioural Research in Clinical Genetics
Section Editor: Aad Tibben
Social and Behavioural Research articles should be 3000 words in length (not including the abstract and references) and can include up to 100 references.

Novel Gene Discoveries
These articles should feature evidence of novel gene discoveries, or research about the second confirming mutation for a novel gene. Manuscripts can be up to 6,000 words in length (including abstract, figures, tables and references) and can include up to seven figures and/or tables. Contributions intended for publication as Novel Gene Discoveries should be so labeled.

Clinical Exome/ Genome Reports
Section Editors: Stefan Mundlos and Sergio Pena
Clinical Exome/ Genome Reports should not exceed 2000 words in length (including references and abstracts). It should be divided into Abstract, Clinical Case report, Exome report (containing numerical details about the number of reads and the number and type of variants observed), Results and Discussion, Acknowledgements and up to 10 references. All figures and tables should be included as supplementary material. A VCF file must be provided as supplementary material (maximum size – 100000kb). This section will be available online only.

The authors must deposit the phenotypic data in PhenomeCentral. Clinical photographs, pedigrees, gels and sequencing traces must also be included as supplementary material. Contributions intended for publication as Clinical Exome/ Genome Reports should be so labeled.

Announcements are published free of charge. Announcements must be received 8 weeks before the month of the issue in which publication is desired. Announcements may be submitted by e-mail to the Editorial office at for approval.

Note - All queries regarding manuscripts submitted after 1. October 2015 should be directed to:

Cover Letter
Include a letter from the author who will be responsible for correspondence regarding the manuscript as well as for communications among authors regarding revisions and approval of proofs.

The letter should indicate:

  • The category of manuscript being submitted (e.g. Original Article, Short Report, Letter).
  • Information on related prior or concurrent submissions to other publications.
  • A list of at least four referees.The list should not name current or prior collaborators.
  • The direct mailing address, telephone and fax numbers, and e-mail address of the corresponding author.

Title Page
The first page of the manuscript should contain, on separate lines, the title of the article and the authors' names and institutions. The title should be no more than 140 characters including spaces. The first page should also include the full postal address, e-mail address, and telephone and fax numbers of the author to whom communications and proofs should be sent. Please be aware that fax number and e-mail address are crucial to our rapid response process. A conflict of interest statement as well as acknowledgements should be included on the title page.

Conflict of interest statement
All manuscripts should contain a conflict of interest statement from each author. Authors should disclose all financial and personal relationships they have that might bias their work, but please state explicitly whether potential conflicts do or do not exist. Please describe the role of the study sponsor(s), if any, in study design; collection, analysis and interpretation of data; writing of the report and in the decision to submit the report for publication. A conflict of interest statement must be included on the title page and should detail any conflicts that exist for each author, or declare the absence of conflict for each author.

Acknowledgements should also be included on the title page of the manuscript. Please acknowledge all sources of support (grants from government agencies, private foundations, etc.), including funds obtained from private industry. Also acknowledge (consistent with requirements of courtesy and disclosure) participation of contributors to the study who are not included in the author list. There will be a clearly identifiable box at the end of published articles containing Acknowledgements and Conflicts of Interest statements.

Papers must be clearly divided into the following sections: Abstract (not exceeding 200 words); Key Words; Introduction; Materials and Methods; Results; Discussion; References; Legends; and Figures/Tables.

Key Words
Four to nine key words for indexing should be given by the author(s) together with the abstract. They should be placed in alphabetical order and, when possible, adjusted to the Medical Subject Headings of Index Medicus.

We recommend the use of a tool such as EndNote for reference management and formatting.
EndNote reference styles can be searched for here:

References should be numbered consecutively in the order in which they appear in the text. References with more than six authors should list the first three authors' names followed by et al. Identify references in text, tables and legends by Arabic numerals. References cited only in Figures/Tables should be listed in the end. They should not be listed in order with the citation in text. Try to avoid using abstracts as references. Include manuscripts accepted, but not published; designate the abbreviated title of the journal followed by (in press). Information from manuscripts not yet accepted should be cited in the text as (submitted). The references must be verified by the author(s) against the original documents. Titles of journals should be abbreviated in accordance with the style used in Index Medicus/MEDLINE.

1. Neufeld EF. Lysosomal storage diseases. Ann Rev Biochem 1991: 60: 257-280.
2. Crawley AC, Brown AC, Smith AB et al. Enzyme replacement therapy in a feline model of Maroteaux Lamy syndrome. J Clin Invest 1996: 97 (8): 1864-1873.
3. Watts WE, Gibbs DA. Lysomal Storage Diseases: Biochemi cal and Clinical Aspects. London: Taylor and Francis, 1986.
4. Estivill X, Morral N. Evolution of cystic fibrosis alleles. In: Dodge J, Brock JDH, Widdicomb JH, eds. Cystic Fibrosis: Current Topics, Vol. 3. Chicester: Wiley, 1996: 141-164.

Legends should be typed consecutively on a separate page or pages at the end of the paper.

All illustrations, graphs, drawings, or photographs are referred to as figures (abbreviate as Fig./Figs.). They should be numbered in sequence with Arabic numerals. Any lines, numbers or lettering that are to appear in the illustrations should be large enough for the necessary reduction. Digital artwork for reproduction should preferably be submitted as EPS, TIFF or high resolution JPEG files and meet our standards. See for further guidelines about figures. It is the policy of Clinical Genetics for authors to pay the full cost for the reproduction of their colour artwork.  Therefore, please note that if there is colour artwork in your manuscript when it is accepted for publication, Wiley-Blackwell require you to complete and return a colour work agreement form before your paper can be published.  This form can be downloaded as a PDF here.  Once completed, the form must be posted or couriered to the address below (Please note: faxed or scanned copies of forms are NOT acceptable):

Customer Services (OPI)
John Wiley & Sons Ltd,
European Distribution Centre
New Era Estate
Oldlands Way, Bognor Regis
West Sussex
PO22 9NQ

Any article received by Wiley-Blackwell with colour work will not be published until the original form has been returned.

Supporting Information
Supporting Information can be a useful way for an author to include important but ancillary information with the online version of an article. Examples of Supporting Information include additional tables, data sets, figures, movie files, audio clips, 3D structures, and other related nonessential multimedia files. Supporting Information should be cited within the article text, and a descriptive legend should be included. It is published as supplied by the author, and a proof is not made available prior to publication; for these reasons, authors should provide any Supporting Information in the desired final format. For further information on recommended file types and requirements for submission, please visit:

The tables should be typed on sheets separate from the text. Tables must, as far as possible, be self-explanatory. They should be numbered consecutively with Arabic numerals and due regard should be paid to the proportions of the printed page. The approximate location in the text should be indicated by a circled marginal note.

When describing phenotype it is advised to follow the recommendation as outlined in the American Journal of Medical Genetics’ Special Issue: Elements of Morphology: Standard Terminology [ Volume 149A Issue 1, Pages 1 - 127 (January 2009)]

Association Studies
Please note that we do not publish associations unless it is accordance with guidelines by Little et al., J Clin Epidemiol. 2009 Jun;62(6):597-608.e4 [Strengthening the reporting of genetic association studies (STREGA)-an extension of the strengthening the reporting of observational studies in epidemiology (STROBE) statement] and Kraft et. al., Nat Rev Genet. 2009 Apr;10(4):264-9 [Beyond odd ratios- communicating disease risk based on genetic profiles].

Genome Sequence Variants
Because of the importance of the issue and the general consensus on the rules, Clinical Genetics is adopting an editorial policy that requires compliance with the rules to describe chromosomal and gene sequence variants before manuscripts will be accepted and published.
When referring to an alteration to the genome, the term “variant” is preferred to “mutation” (Cutting, 2014, Am J Hum Genet 4:5-10). “Mutation” may be used when referring to the process by which a new variant arises.

Structural variants
Prior to publication, authors with articles describing structural and copy number variants (CNVs), are required to submit all such variants to either the Database of Genomic Variants Archive (DGVa) ( or the Database of Genomic Structural Variation (dbVar) ( Genomic structural variation can be complex to represent, so authors should follow the guidance provided on the GDVa and dbVar sites. If the data include clinical assertions, they should be submitted to ClinVar (, not dbVar. The associated identification numbers should be used to describe the variants in the manuscript. A figure or table that encapsulates the full results of your genome-wide scan must be submitted as well.

Variants affecting individual genes
Authors must ensure that sequence variants in individual genes are correctly described and are deposited into the appropriate Locus Specific Database (LSDB) for the gene or disease of interest prior to acceptance and publication. Variants should be described in the text and tables using both DNA and protein designations whenever appropriate. Variants described only in the context of protein-sequence changes are not acceptable.
In compiling variant descriptions, there are several specific issues that need to be addressed:

Gene symbols and OMIM numbers
All manuscripts must include (when available) HGNC-approved gene symbols ( and OMIM database reference numbers ( for genes and/or disorders. Gene symbols may be requested for loci for which no symbol exists using the Gene symbol request form ( In addition, commonly used alternative gene and disease symbols may also be used in the abstract and as key words. There are separate OMIM numbers for diseases and genes and they are not to be used interchangeably.

Reference sequences
Variants must be reported in the context of a defined reference sequence. Authors should always include the GenBank Accession Number of the relevant reference 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 variants. Authors are encouraged to use the Locus Reference Genomic (LRG) reference sequence ( which dispenses with the need for sequence versions, if a record exists for the gene in question (e.g., LRG_1).

Variant nomenclature
The most current guidelines are summarized on the Mutation Nomenclature Homepage at the HGVS website ( Examples of acceptable nomenclature are also provided. If alternative nomenclature schemes (e.g., for legacy exon- or amino-acid numbering) are commonly found in the literature, they may also be used in addition to approved nomenclature, but they must be defined clearly. Variants may be described using dbSNP identifiers (e.g., rs123456:A>G). Authors should also refer to den Dunnen and Antonarakis, 2000, Hum Mutat 15:7–12 and to den Dunnen and Paalman, 2003, Hum Mutat 22:181-182 for additional information.
Complex rearrangements can be described using the HGVS nomenclature (Taschner and den Dunnen, 2011, Hum Mutat 32:507-511) and the nomenclature is being adapted to accommodate the reporting of chromosomal variants detected by several technologies.

Variant checking
Authors are advised to check sequence variant descriptions using the Mutalyzer program ( Using batch mode, several variants can be analysed at once. Please see the article by Wildeman et al., 2008, Hum Mutat 29:6-13 for more information.

Submission of variants to databases
Authors must confirm the status of database submission in their covering letter. In addition, authors should note in the manuscript (e.g., in the methods section) the database(s) to which they have submitted their variants and provide the URL(s). We encourage the use of widely accessible genetics databases as repositories for human gene sequence variation information. Links to gene variant databases can be obtained from the Human Genome Variation Society web site ( or using the url "GeneSymbol" (e.g.,

Abbreviations and Symbols
Only standardized terms which have been generally accepted should be used. Unfamiliar abbreviations must be defined when first used. For further details, see Units, Symbols, and Abbreviations. A Guide for Medical and Scientific Editors and Authors. (available from The Royal Society of Medicine Press, 1 Wimpole Street, London WIM 8AE, England). Do not use Roman numerals in the text. In decimal fractions, a full stop, and not a comma, must be used. The minus sign is shown as -.

Proofs will be sent via e-mail as an Acrobat PDF (portable document format) file.  Only minor revisions are allowed without extra cost.

Proofs will be sent via e-mail as an Acrobat PDF (portable document format) file. The e-mail server must be able to accept attachments up to 4 MB in size. Acrobat Reader will be required in order to read this file. This software can be downloaded (free of charge) from the following Web site:
This will enable the file to be opened, read on screen, and printed out in order for any corrections to be added. Further instructions will be sent with the proof. Proofs will be posted if no e-mail address is available; in your absence, please arrange for a colleague to access your e-mail to retrieve the proofs.

Offprints can be supplied if ordered on the offprint order form which will accompany the proofs.

The Printed Version
Articles should not exceed twenty pages in print. In the journal, 'received' date indicates the date of receipt of the first version; 'accepted' indicates date of acceptance of the final version.

Copyright Assignment
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

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 License 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 and visit
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:

Open Access
OnlineOpen is available to authors of primary research articles who wish to make their article available to non-subscribers on publication, or whose funding agency requires grantees to archive the final version of their article.
With OnlineOpen, the author, the author's funding agency, or the author’s institution pays a fee to ensure that the article is made available to non-subscribers upon publication via Wiley Online Library, as well as deposited in the funding agency's preferred archive. For the full list of terms and conditions, see
Any authors wishing to send their paper OnlineOpen will be required to complete the payment form available from our website at:
Prior to acceptance there is no requirement to inform an Editorial Office that you intend to publish your paper OnlineOpen if you do not wish to. All OnlineOpen articles are treated in the same way as any other article. They go through the journal's standard peer-review process and will be accepted or rejected based on their own merit.

Accepted Articles
'Accepted Articles' have been accepted for publication and undergone full peer review but have not been through the copyediting, typesetting, pagination and proofreading process. Accepted Articles are published online a few days after final acceptance, appear in PDF format only (without the accompanying full-text HTML) and are given a Digital Object Identifier (DOI), which allows them to be cited and tracked. The DOI remains unique to a given article in perpetuity. More information about DOIs can be found online at Given that Accepted Articles are not considered to be final, please note that changes will be made to an article after Accepted Article online publication, which may lead to differences between this version and the Version of Record.
The Accepted Articles service has been designed to ensure the earliest possible circulation of research papers after acceptance. Given that copyright licensing is a condition of publication, a completed copyright form is required before a manuscript can be processed as an Accepted Article.
Accepted articles will be indexed by PubMed; therefore the submitting author must carefully check the names and affiliations of all authors provided in the cover page of the manuscript, as it will not be possible to alter these once a paper is made available online in Accepted Article format. Subsequently the final copyedited and proofed articles will appear either as Early View articles in a matter of weeks or in an issue on Wiley Online Library and the link to the article in PubMed will automatically be updated.

Early View
Clinical Genetics
is covered by Wiley-Blackwell’s Early View service. Early View articles are complete full-text articles published online in advance of their publication in a printed issue. Articles are therefore available as soon as they are ready, rather than having to wait for the next scheduled print issue. Early View articles are complete and final. They have been fully reviewed, revised and edited for publication, and the authors’ final corrections have been incorporated. Because they are in final form, no changes can be made after online publication. The nature of Early View articles means that they do not yet have volume, issue or page numbers, so Early View articles cannot be cited in the traditional way. They are therefore given a Digital Object Identifier (DOI), which allows the article to be cited and tracked before it is allocated to an issue. After print publication, the DOI remains valid and can continue to be used to cite and access the article.

Author services
Author Services enables authors to track their article – once it has been accepted – through the production process to publication online and in print. Authors can check the status of their articles online and choose to receive automated e-mails at key stages of production so they don’t need to contact the production editor to check on progress. Visit for more details on online production tracking and for a wealth of resources including FAQs and tips on article preparation, submission and more.

Pre-acceptance English-language editing
The author services site also offers recommendations regarding pre-acceptance English language editing. Clinical Genetics encourages global scientific communication in genetics and values manuscripts from all over the world. 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. Please visit this site for our recommendations.

Author Material Archive Policy
Please note that unless specifically requested, Wiley-Blackwell will dispose of all hardcopy or electronic material submitted two months after publication.  If you require the return of any material submitted, please inform the editorial office or production editor as soon as possible if you have not yet done so.

Molecular Genetics and Genomic Medicine and Clinical Case Reports
This journal collaborates with two Wiley Open Access journals, Molecular Genetics and Genomic Medicine and Clinical Case Reports, to enable rapid publication of good quality manuscripts that are unable to be accepted for publication by our journal. Authors may be offered the option of having their paper, along with any related peer reviews, automatically transferred for consideration by the Editor of one of the two journals. Authors will not need to reformat or rewrite their manuscript for transferral, and publication decisions will be made a short time after the transfer takes place. For more information please visit the journal homepages by clicking the links above.

The Publisher and Editors cannot be held responsible for errors or any consequences arising from the use of information contained in this journal; the views and opinions expressed do not necessarily reflect those of the Publisher and Editors, neither does the publication of advertisements constitute any endorsement by the Publisher and Editors of the products advertised.

Production Office
For any queries regarding your paper, post-acceptance please email the Production Editor at: