Molecular Syndromology
Guidelines
About the Journal
Aims and Scope
'Molecular Syndromology' aims to furnish the medical genetics community with clinically useful information regarding genetic and genomic disorders. The scope of Molecular Syndromology includes papers that elucidate the molecular and biochemical basis of the disease, genotype-phenotype correlations, and the prognosis and treatment options based on knowledge of the underlying mutation(s). To do so, Molecular Syndromology publishes research and review articles, case reports revealing novel genes, mutations and phenotypes, and summaries of symposia and workshops on themes with relevance to clinical genetics.Journal Sections
Article Types
Research Article
Research Articles report on primary research. They must describe significant and
original observations. Consideration for publication is based on the article’s originality, novelty, and
scientific soundness, and the appropriateness of its analysis.
Research Articles are reports of
original work. Authors are asked to follow the EQUATOR Network for Research Articles.
Prior approval from an Institutional
Review Board (IRB) or an Ethics Review Committee is required for all investigations involving human
subjects.
Documents
Research Article (DOCX, 39 KB)
Manuscripts investigating biological and molecular mechanisms of disease aiming to improve our understanding of the clinical pathology are welcomed. These may discuss clinical investigations on patient cohorts or experimental studies using in vitro or animal models. Genome wide or candidate gene cohort studies of a multifactorial clinical disorder (e.g. epilepsy, premature ovarian failure, autism, male infertility, specific language impairment, schizophrenia) will only be considered if their focus pinpoints specific novel genes, previously undescribed gene functions, and/or mechanisms of disease.
These manuscripts should contain a structured abstract of maximal 250 words, with the following subheadings: Introduction, Methods, Results, Conclusion, a text body of maximal 5,000 words, and at most 80 references.
Review Article
Review Articles are considered reviews of research or summary articles. They are state-of-the-art papers covering a current topic by experts in the field. They should give evidence on and provide answers to a well-defined aspect or question in a particular area. Review Articles must include a critical discussion of the reported data and give a clear conclusion with potential impacts on the standard of care.
A downloadable template is available below.
Documents
Review Article (DOCX, 32 KB)
Literature reviews of recent developments improving our understanding of biological and genomic mechanisms of disease, such as genotype-phenotype correlations and the affected biological pathways, are welcomed. Authors are advised to contact the Editors before embarking on such a project.
Review manuscripts should contain a structured abstract of maximal 250 words, with the following subheadings: Background, Summary, and Key Messages. A text body of maximal 6,000 words, and at most 100 references.
Case Report
Case Reports can present a case study, case report, or other description of a case. Case Reports present significant new insights or cases with an unusual and noteworthy course. Submissions can be based on a case or a number of similar cases. The most important aspect of the presentation is that it should provide a new perspective on a recognized clinical scenario or may represent an entirely new clinical condition. The novelty of the case(s) may lie in the phenotype, the presentation, the investigation, and/or the management. We strongly encourage authors to comply with the CARE guidelines.The manuscript must include a statement detailing that written informed consent for publication was obtained and from whom (e.g. “Written informed consent was obtained from the patient for publication of this case report and any accompanying images.”). If the patient has died, consent for publication must be obtained from their next of kin. If the patient described in the case report is a minor or vulnerable, then consent for publication must be obtained from the parent/legal guardian. The completed consent form must be made available to the Editor if requested, and will be treated confidentially.
A downloadable template is available
below.
Documents
Novel Insights (DOCX, 37 KB)
Authors may wish to submit the following Case Report:
Novel Insights: Molecular Syndromology will consider case reports only if they provide
novel insights of use in clinical practice. These case reports should ideally report on three or
more patients/families with a single syndrome, disorder, or shared phenotype. Reports discussing
single patients and/or families will only be considered if they present exceptional cases and
findings. The manuscripts must adhere to the template of “Established Facts” and “Novel Insights”.
In the discussion section, the authors should include a summary of all relevant genetic and clinical
features as previously reported in the literature.
These manuscripts should contain a
structured abstract of maximal 250 words, with the following subheadings: Introduction, Case Presentation and Conclusion.
A text body of maximal 5,000 words, and at most 80 references.
Please see the
section 'Further Conditions' for more information.
Brief Report
Brief Reports are short and/or rapid announcements of research results. They must contain data derived from cutting-edge research and be of potential interest to a large proportion of the readership. They are independent, concise reports representing a significant contribution to the field. Such communications should represent complete, original studies and should be arranged in the same way as full-length manuscripts with subheadings.
A downloadable template is available below.
Documents
Brief Report (DOCX, 36 KB)
Brief reports should contain a structured abstract of up to 250 words, 2,000-word body text, 20 references, 2 figures and 1 table.
Commentary
Documents
Commentary (DOCX, 33 KB)
Commentaries should contain no abstract , 700-word body text, 1 figure and 1 table.
Methods Article
Methods Articles describe methods or protocols used to perform an experiment or carry out a research plan. They should not report research results. Authors may submit a Study Protocol outlining a research and/or statistical analysis plan for proposed, or ongoing, but incomplete, research studies, including but not limited to, clinical trials, population-based studies, clinical outcome studies, and service evaluations. Only study protocols that have received ethical approval will be considered and, where expected by community convention, study protocols must be pre-registered and the trial/study registration number should be provided in the manuscript. Manuscripts reporting study protocols must adhere to the relevant reporting guidelines for their study design, such as the SPIRIT, PRISMA-P or other relevant reporting guidelines as detailed on the Equator Network website.
A downloadable template is available below.
Documents
Method Article (DOCX, 36 KB)
Method Article for Study Protocol (DOCX, 37 KB)
Contact Information
Should you have any problems with your submission, please contact the editorial office:Claus Steinlein
Department of Human Genetics
University of Würzburg
Biozentrum, Am
Hubland
D - 97074 Würzburg
Germany
Tel.: +49-931-318-8091
Fax: +49-931-318-4058
E-Mail claus.steinlein@biozentrum.uni-wuerzburg.de
Editorial and Journal Policies
General Conditions
Only papers written in English are considered. The articles should be comprehensible to a reader who is fluent in English and should be edited prior to submission to ensure that standard English grammar and usage are observed. Use of a professional language editing service prior to submission can help avoid delays with the review process.All manuscripts are subject to editorial review. When preparing a manuscript, it is important to review the editorial policies. For full details, please visit the Publication Ethics and Editorial Policies page.
The presentation of manuscripts should follow the Uniform Requirements for Manuscripts Submitted to Biomedical Journals from the International Committee of Medical Journal Editors (ICMJE).
Karger Publishers is a member of the Committee on Publication Ethics (COPE). Karger journals aim to adhere to the COPE Code of Conduct and Best Practice Guidelines.
By submitting an article for publication, the authors agree to the transfer of the copyright to the publisher upon acceptance. Accepted papers become the permanent property of the Journal and may not be reproduced by any means, in whole or in part, without the written consent of the publisher.
Karger recommends the use of original images and materials whenever possible. If a submitted manuscript contains third-party copyright material(s), it is the authors’ sole responsibility to obtain permission from the relevant copyright holder for reusing the material(s), including any associated licensing fee. The copyright and usage information needs to be checked carefully to avoid copyright infringement. The author(s) is and will remain personally liable for any copyright infringements.
Most publishers offer a quick and easy way to clear permissions for their content via the built-in website application RightsLink or via https://www.copyright.com/get-permissions/. Another widely used licensing tool is PLSClear. Please check the publishers’ websites for the available options and user instructions.
The authors agree that their name, affiliation with their institution and contact details will be available to third parties after the article has been published. Those third parties may be placed within or outside of the European Economic Area.
Statements
All submitted manuscripts must contain a statements section after the main body of the text, but before the reference list.
Statement of Ethics
Published research must comply with internationally-accepted standards for research practice and reporting. Manuscripts may be rejected if the editors believe that the research has not been carried out within an appropriate ethical framework or if authors have misrepresented the ethics declarations. Concerns raised after publication may lead to a correction, retraction, or expression of concern in line with COPE guidelines.
Studies involving human subjects (including research on identifiable human material and data) must have been performed with the approval of an appropriate ethics committee and with appropriate participants’ informed consent in compliance with the Helsinki Declaration.
In the manuscript, authors should specify the name of the ethics committee or other relevant authority who approved the study protocol and provide the decision reference number. If ethics approval was not required, or if the study has been granted an exemption from requiring ethics approval, this should also be detailed in the manuscript, including the reason for the exemption and the name of the ethics committee that made that decision.
For all research involving human subjects, written informed consent to participate in the study should be obtained from participants (or their parent/legal guardian where appropriate) and a statement detailing this should appear in the manuscript. For studies involving vulnerable participants or participants at risk of potential coercion, detailed information regarding the steps taken to ensure informed consent must be provided. If consent was not obtained, please specify why and whether this was approved by the ethics committee.
Research involving human embryonic stem cells, embryonic germ cells or induced pluripotent stem cells should comply with the ISSCR 'Guidelines for the Conduct of Human Embryonic Stem Cell Research' or an equivalent set of guidelines or applicable regulations.
Case Reports: Manuscripts reporting a case report must include a statement detailing that written informed consent for publication was obtained and from whom (e.g. “Written informed consent was obtained from the patient for publication of this case report and any accompanying images.”). If the patient has died, consent for publication must be obtained from their next of kin. If the patient described in the case report is a minor or vulnerable, then consent for publication must be obtained from the parent/legal guardian. The completed consent form must be made available to the Editor if requested, and will be treated confidentially.
Please note if authors are submitting to a journal with a double blind peer review policy, the Author Contributions statement should be anonymized where appropriate.
Plagiarism
Plagiarism, whether intentional or not, is not tolerated in Karger’s journals. Plagiarism includes, but is not limited to, copying or reusing text, ideas, images or data from other sources without clear attribution, and goes against the principle of academic publishing. Karger may subject any manuscripts to a plagiarism-detection software ( Crossref Similarity Check, powered by iThenticate) and if the software raises any concerns, there will be a follow-up investigation in line with COPE guidelines. At any stage of peer-review, publication, or post-publication, if plagiarism is detected the manuscript may be rejected, corrected or retracted, as appropriate, and we reserve the right to inform the authors' institutions about any plagiarism detected. We expect that our editors and reviewers will inform the journal about any concerns related to plagiarism.Further Conditions
Manuscripts reporting a novel variant in a known disease-causing gene in a patient with the recognized pathologic phenotype will not be considered.
Peer Review
Peer Review Policy
All Karger journals employ a rigorous peer-review process to confirm the validity and ensure scientific accuracy of published articles. Independent researchers with relevant expertise assess submitted manuscripts to help journal editors determine whether a manuscript should be published in their journal.
Peer Review Type
Molecular Syndromology uses a single-blind peer review system where reviewers know the names of the authors, but the authors do not know who reviewed their manuscript.
Peer Review Process
The Editor-in-Chief and the international Editorial Board ensure a thorough and fair peer-review process with the highest scientific publishing standards. The editorial office performs preliminary checks on submitted manuscripts to ensure compliance with submission guidelines, editorial policies and ethical standards. After completion of internal checks, each submission is assessed by the Editor-in-Chief (and/or Managing Editor) who decides whether to proceed with peer review and may assign a suitable handling Editor (Associate Editor, Editorial Board Member or Guest Editor). Handling Editors guide the peer-review process for manuscripts within their areas of expertise with the help of reviewers who are well qualified and up-to-date on the subject matter and/or methodology. All articles, except for Editorials and some Correspondence articles, are externally peer reviewed, typically by at least two individuals with expertise in the manuscript content area and/or research methods, before a final decision is made about acceptance for publication. If an Editor, Editorial Board Member, or employee submits a manuscript, it is assigned to an independent Editor who will handle the peer review, and details of the review process, beyond the anonymized review and decision, are not accessible to the Editor, Editorial Board Member, or employee. All Editors, reviewers and authors shall adhere to Karger’s editorial policies and best practices in line with COPE Core Practices to maintain high standards of peer-review.
Peer Reviewers
Authors may suggest reviewers, who must have a recent publication record in the area of the submission, must not have published with the authors in recent years, and must not be from the same institution as the authors. Whether or not to consider these reviewers is at the Editor's discretion, and in line with Karger’s Editorial policy. Where possible, institutional email addresses or information which will facilitate verifying the identity of the reviewer should be provided.
Appeals and Complaints
Any appeal on a decision or complaint during peer-review, or post-publication, must be submitted in writing to the corresponding Karger’s editorial office (see “Journal Contact”). All cases will be handled in line with COPE guidelines.
Reproducibility
Availability of materials
The Methods section of the article must contain sufficient information to allow a reader to replicate the study. Karger encourages authors to use protocols.io as an open access repository for their detailed methodology. For protocols registered in protocols.io, please cite this record in your methods section and include the record DOI in the references. Karger supports the inclusion of Research Resource Identifiers in the methods section, for further information please see the Resource Identification Portal. Supplier and catalogue numbers should be included for any chemical and reagents.
Image presentation
Where authors include a representative image of an experimental group or outcome it is expected that no image enhancements or adjustments are applied to that image. Where necessary for clarity of interpretation, for example, image cropping or brightness adjustment, this should be applied to the whole image, be detailed in the Methods section of the article and the original images must be uploaded as supplementary material.
Statistics
Karger recommends following The SAMPL Guidelines when reporting statistical analyses. Sample size must be reported for each study in the methods section tables and Figure legends. Where statistical testing for the significance of an effect is carried out, a dedicated section for statistical methodology must be included in the Methods. This section should provide sufficient information that would allow, with access to the full data set, reproduction of the article's results. The choice of statistical tests and any post-hoc tests must be justified in this section. The threshold for significance, alpha, should be defined here as well as how multiple comparisons are adjusted for, where applicable. When reporting the results of statistical tests it is not sufficient to only report the p-value. For example, for a Student’s t-test, it is necessary to report the degrees of freedom, t-statistic as well as the exact p-value.
Materials Design Analysis Reporting Framework
Karger Publishers endorses the Materials Design Analysis Reporting (MDAR) Framework for minimum reporting standards in the life sciences and encourages authors to consider all aspects of the MDAR Framework relevant to their study when submitting a manuscript. Authors are encouraged to submit a completed MDAR Checklist with their manuscripts.
Misconduct
Karger takes seriously all allegations of potential misconduct and will follow relevant COPE Guidelines. Concerns regarding a published article should be raised to the Research Integrity and Publication Ethics Manager at publication.ethics[at]karger.com. All efforts will be made to resolve concerns raised about a published article without undue delay and an Erratum or Retraction will be issued, where necessary. An Expression of Concern may be published to inform readers of ongoing matters in line with COPE guidance. In cases of suspected research or publication misconduct, it may be necessary for the Editor or Publisher to contact and share submission details with third parties including authors’ institutions and ethics committees in line with COPE Guidelines. Advice may also be sought directly from COPE.Article Preparation
Formatting
The preferred word processing program for manuscripts is Microsoft Word. Page and line numbering should be activated, and the level of subheadings should be indicated clearly.
Footnotes should be avoided. When essential, they should be numbered consecutively and appear at the foot of the appropriate page.
Abbreviations (with the exception of those clearly well established in the field) should be explained when they are first used both in the abstract and in the main text.
Units of measurement should be expressed in SI units wherever possible.
Generic names of drugs (first letter: lowercase) should be used whenever possible. Registered trade names (first letter: uppercase) should be marked with the superscript registration symbol ® or ™ when they are first mentioned.
The manuscript text, tables and illustrations must be submitted in separate files.
For further technical specifications, including those regarding tables, figures, and illustrations, please refer to the Karger website.
Further Formatting Instructions
Documents
Plain Language Summary Template (DOCX, 20.59 KB)
Plain Language Summary
A plain language summary may be submitted for Research Articles and Review Articles. The summary should not exceed 250 words and be written in plain English avoiding the use of technical language. If a technical term must be used, then authors must explain it the first time that it is used. The summary must be distinct from the abstract and provide readers with an easy-to-understand description of the manuscript. Authors should avoid the use of personal opinions and/or speculation on the results of the manuscript. No page charges will be incurred by the inclusion of the plain language summary. Use neither bibliographic references nor references to figures or tables in the summary.
Gene Symbols
Human gene symbols
Only official gene symbols of the HUGO Gene Nomenclature Committee (HGNC) are accepted. Authors must
obtain or verify the official gene symbol of the gene(s) mapped and indicate that they have done so
in the manuscript submitted. This can be accomplished for human genes by contacting:
HUGO
Gene Nomenclature Committee (HGNC)
European Bioinformatics Institute (EMBL-EBI)
Wellcome Trust
Genome Campus
Hinxton, Cambridgeshire
CB10 1SA, UK
Fax +44 (0)1223 494 468
E-Mail
hgnc@genenames.org
Website: www.genenames.org
Guidelines set forth by the HUGO Gene Nomenclature Committee are available at http://www.genenames.org/guidelines.html
New symbols and names for genes can be requested electronically through the online gene symbol request form at www.genenames.org/contact/request
Animal gene symbols
Authors submitting material on mouse and rat genetics should obtain correct genetic nomenclature before publication.
Contact:
Dr. Lois Maltais
MGD Nomenclature Coordinator
The Jackson Laboratory
600 Main Street
Bar
Harbour ME 04609 (USA)
Tel. +1 (207) 288 6429
Fax +1 (207) 288 6132
E-mail
nomen@informatics.jax.org
MGD home page: www.informatics.jax.org
Guidelines set forth by the International Committee on Standardized Genetic Nomenclature for Mice are available at www.informatics.jax.org/mgihome/nomen/gene.shtml
New symbols and names for genes can be requested electronically through the online symbol registry form at www.genenames.org/contact/request
Gene mapping data for the mouse should also be submitted to the Mouse Genome Database (MGD) following the guidelines at www.informatics.jax.org/submit.shtml
The assigned MDG accession numbers should be included in the manuscript for publication. Assistance with submissions can be obtained by by sending an e-mail to submissions@informatics.jax.org.
Manuscript Arrangement
Title Page
The first page should contain a short and concise title plus a running head of no more than 80 characters. Abbreviations should be avoided.
Below the title, list all the authors’ names as outlined in the article sample, which can be downloaded under Article Types. Each listed author must have an affiliation, which comprises the department, university, or organization and its location, city, state/province (if applicable), and country.
Place the full postal address of the corresponding author at the bottom of the first page, including at least one telephone number and e-mail address.
Keywords relevant to the article should be listed below the corresponding author information.
Body
Please refer to the Article Types section of the Guidelines for Authors for information on the relevant article structure, including maximum word counts and downloadable samples.Online Supplementary Material
Online Supplementary Material may be used to enhance a publication and increase its visibility on the Web. Supplementary files (directly relevant but not essential to the conclusions of the paper) will undergo editorial review and should be submitted in a separate file with the original manuscript and with all subsequent submissions. The Editor(s) reserve(s) the right to limit the scope and length of supplementary material. Supplementary material must meet production quality standards for publication without the need for any modification or editing. For ease of reader access, we strongly recommend that files be less than 10 MB. Authors wishing to associate larger amounts of supplementary material with their article should deposit their data in an appropriate public data repository. Figures must have legends and tables require headings. All files must be named clearly. Acceptable files and formats are Word or PDF files, Excel spreadsheets (if the data cannot be converted properly into a PDF file), and multimedia files (MPEG, AVI, or QuickTime formats). All supplementary material should be referred to in the main text. A DOI number will be assigned to supplementary material, and it will be hosted online at https://karger.figshare.com under a CC BY license.References
In-Text Citation
References in the text should be identified sequentially using Arabic numerals [in square brackets].
Reference List
The reference list should include only those publications which are cited in the text, arranged numerically in the order in which they are cited. Please number the reference list as shown below (i.e., without using full stops, brackets, etc.). The authors’ surnames should be followed by their initials with no punctuation other than a comma to separate individual authors. A maximum of 6 authors should be listed (followed by “et al.” if there are more than 6 authors). Material submitted for publication but not yet accepted should be referred to as “unpublished data” and should not be included in the reference list. Other pre-published or related materials with a DOI, e.g. preprint manuscripts, datasets, and code, may be included. More information on good referencing practice, as well as further examples, can be found in National Library of Medicine Style Guide for Authors.
Reference Management Software
If you are using reference management software, we recommend using the Vancouver Referencing Style, which is also known as ‘Non-superscripted Number’ and adjusting to have the numbers in square brackets in the main text.
Examples
Articles published in journals: 1 Sawant KV, Xu R, Cox R, Hawkins H, Sbrana E, Kolli D, et al. Chemokine CXCL1-mediated neutrophil trafficking in the lung: role of CXCR2 activation. J Innate Immun. 2015;6(7):647–58. (Journal names should be abbreviated according to the Index Medicus.)
Articles published only with DOI number: 2 Chen C, Hu Z. ApoE polymorphisms and the risk of different subtypes of stroke in the Chinese population: a comprehensive meta-analysis. Cerebrovasc Dis. DOI: 10.1159/000442678.
Monographs: 3 Matthews DE, Farewell VT. Using and understanding medical statistics. 5th ed, revised. Basel: Karger; 2015.
Edited Books: 4 Cohen SR, Gardner TW. Diabetic retinopathy and diabetic macular edema. In: Nguyen QD, Rodrigues EB, Farah ME, Mieler WF, Do DV, editors. Retinal pharmacotherapeutics. Dev Ophthalmol. Basel: Karger; 2016. Vol. 55; p. 137–46.
Websites: 5 Karger Publishers [Internet]. Basel: Transforming Vesalius: The 16th-Century Scientific Revolution Brought to Life for the 21st Century [cited 2013 Feb 4]. Available from: https://www.vesaliusfabrica.com/en/new-fabrica.html.
Author Services
Karger Publishers offer a range of services to assist authors with the preparation of their manuscript, including discounts for language editing services offered by third parties.
More information is available on the Author Resources section of the Karger homepage.
When submitting a manuscript, authors can add their ORCID number to their Karger account to ensure that their paper is accredited to them correctly.
Cost of Publication
Page Charges/Article Processing Charges
Page charges are not levied in this journal.
Karger has established Transformative Agreements with many consortia and institutions that include full or partial coverage of the Article Processing Charges (APCs) and/or the Author’s Choice Open Access publication fees. Authors affiliated with those institutions can publish Open Access in all Karger journals and comply with Open Access mandates without incurring any additional costs or with reduced APCs. Find out here whether your Open Access charges are covered by an agreement.
Online Supplementary Material
We strongly encourage authors to make all the datasets on which the conclusions of the manuscript are based available. Online supplementary material is hosted for free with a published article. For ease of reader access, we strongly recommend that files be less than 10 MB. Authors wishing to associate larger amounts of supplementary material with their article should deposit their data in an appropriate public data repository.Illustration Charges
Author's Choice
Karger Publisher’s Author’s Choice™ service broadens the reach of your article and gives all users worldwide free and full access for reading, downloading, and printing at karger.com. The option is available for a one-time fee, which is a permissible cost in grant allocation. More information can be found at karger.com/authors_choice. For a fee of CHF 3,200.00 / USD 3,600.00 / EUR 3,600.00, the final, published version of the article may be posted at any time and in any repository or on other websites, in accordance with the relevant Creative Commons license as well as the current Karger self-archiving policy for Open Access articles. Karger supplies all articles to PubMed Central for indexing.Journal Policies
Copyediting and Proofs
Manuscripts accepted for publication by Karger Publishers will undergo basic proofreading to check for obvious spelling and grammar mistakes. If you would prefer a more in-depth language editing service to improve clarity and style, please consult a service provider prior to submission. Please note that the use of a language editing service before submission is not a requirement for publication in the journal and does not guarantee that the manuscript will be considered for peer review or accepted.Karger Publishers’ house style is based on internationally recognized standard manuals, including The Chicago Manual of Style.
An e-mail containing a link to download the PDF proofs will be sent to the corresponding author. The authors should check the PDF document and respond to any questions that have been raised during proofreading within 48 hours.
Alterations made to proofs, other than the correction of errors introduced by the Publisher, are charged to the authors and may require editorial approval.
Please note that the revised proofs are not sent to the authors prior to typesetting and online publication unless there are exceptional circumstances. The article layout will be created according to the Karger standard.
DOI Number
A DOI number will be available as a unique identifier on the title page of each article. DOIs are useful for identifying and citing articles published online without volume or issue information (for more information, see www.doi.org).Online First Publication
All articles are published electronically ahead of print with a DOI number and are supplemented later with the definite reference to the printed version. The articles become available immediately after the authors’ approval to print.Licenses and Copyright
Archiving and Self-Archiving
All articles are archived in Portico. Articles may also be archived in PubMed Central if the journal is indexed there. Karger supports Green Open Access and permits authors to archive their Author's Accepted Manuscript (AAM, i.e., accepted manuscripts after peer review but before production; also referred to as a postprint) on their personal home page or institution’s repository, provided that these are not used for commercial purposes, are linked to the publisher’s version, and acknowledge the publisher’s copyright. Preprints may be shared without restriction.
In addition, authors may post their accepted manuscripts in public Open Access repositories and scientific networks no earlier than 12 months following publication of the final version of their article. The posted manuscripts must:
1. Be used for noncommercial purposes only
2. Be linked to the final version on karger.com and include the following statement:
"This is the peer-reviewed but unedited manuscript version of the following article: [insert full citation, e.g., Cytogenet Genome Res 2014;142:227–238 (DOI: 10.1159/000361001)]. The final, published version is available at http://karger.com/?doi=[insert DOI number]."
It is the authors’ responsibility to fulfill these requirements.
For papers published online first
with a DOI number only, full citation details must be added as soon as the paper is published in its final
version. This is important to ensure that citations can be credited to the article.
To facilitate
compliance with Coalition S/Plan S Open Access mandates, Karger permits authors, independently and without
Karger`s action, to upload a copy of their Author Accepted Manuscripts (AAM), applying a CC BY license, to a
repository designated by their Plan S funders. However, when an article is published as Open Access, the
Version of Record should be archived instead of the AAM. The AAM may be made freely available in the archive
upon the official, final publication of the article (Version of Record or VOR, i.e. the post-production,
final article version). Manuscripts to be archived in PubMed Central (PMC) due to NIH funding
requirements or that have been published Open Access under Author’s Choice™ will be submitted by Karger on
the authors’ behalf, as outlined under Funding Organizations.
Articles published as Open Access under
Author’s Choice may be shared freely on any repository or website. Re-posted Open Access articles must
follow the terms of the relevant Creative Commons license. To ensure citations are credited to the Version
of Record, Karger encourages authors to link to the published article on karger.com and include the
following statement: "The Version of Record of this article is available at
http://karger.com/?doi=[insert DOI number](e.g. http://karger.com/?doi=10.1159/000365070)."
Karger
policies on Open Access, licensing and self-archiving can also be found at Sherpa Romeo.
Funding Organizations
If the authors are affiliated with an organization that has an Open Access agreement with Karger, the authors are prompted during submission to select from a list of these organizations. By choosing one of the listed organizations, eligibility can then be assessed.
NIH-Funded Research
The US National Institutes of Health (NIH) Public Access Policy mandates that AAMs must be archived in its digital database PubMed Central (PMC) within 12 months of the official publication date. As a service to authors, Karger Publishers submits the accepted, unedited version of NIH-funded manuscripts to PMC upon publication, where it is made available after a 12-month embargo period. Where the authors have chosen to make their paper freely available under Karger’s Author’s Choice™ service, this embargo does not apply.
Plan S
Karger approves authors, independently and without Karger`s action, to make their AAMs openly available in PMC or another repository under a CC BY license upon publication of the Version of Record (VOR, i.e post-production, final article version). However, when an article is published as Open Access, the Version of Record should be archived instead of the AAM. Some Coalition S funders, such as Wellcome Trust, Bill & Melinda Gates Foundation and FWF, designate PMC as the repository in which to make the Author’s Accepted Manuscript (AAM) openly available. For papers made Open Access via Author's Choice, Karger will deposit the article in PMC on the author’s behalf with a CC BY license. Authors should refer to their funders’ policies for details. Authors should check their funders’ requirements about how to declare their funding and any associated mandates within their manuscript.
Karger Publishers also complies with other funders’ requirements for submission to PMC. In some cases, doing so requires that authors select Author’s Choice™, which is generally reimbursed by the funder or is a permissible cost in the grant. Authors should include information on their grants in the Funding Sources section of their papers.
More information on funding sources can be found on the Karger website.
Errata and Retractions
Karger is committed to maintaining the accuracy and integrity of the scientific record. Retractions will be issued where required in accordance with COPE guidelines. Errors in an article that affect the content of the article, such as figures or results, or the article metadata, such as the author list, will be corrected through the publication of an Erratum. Please note that the corrections of other errors introduced by authors and missed during the final manuscript proofing stage may be declined. Authors should contact us to report errors in their articles. Please state journal name, volume, issue and page numbers, the DOI number if the article has not yet been printed, as well as article title and the nature of the error.
Submission
Manuscript Submission
Manuscripts should be submitted online via the Molecular Syndromology submission and peer review system by the manuscript’s corresponding author. The corresponding (submitting) author will automatically be the contact person for the manuscript for the peer review and production process. For fee payment and license signing, the contact author will be the first listed corresponding author.
The corresponding (submitting) author is solely responsible for managing all communication between the journal and all co-authors and acts on behalf of all listed authors. This ensures that all correspondence reaches a unique contact and thereby secures swift communication in particular throughout the submission, peer review and production process. Articles can be published with more than one corresponding author (usually limited to three), but only the submitting author can be accommodated during the submission, peer review and production process.
The corresponding (submitting) author’s specific responsibilities include:
- Ensuring all the listed authors have approved the manuscript submission to the journal and agreed to all of the content including the author list, including the Submission Declaration
- Handling the revision(s) and re-submission(s) of the manuscript until acceptance
- After acceptance, manuscript proof reading and approving the final proof
- Acting as the point of contact for queries about the published article. It is their responsibility to inform all co-authors of any matters arising in relation to the published article including questions relating to publication ethics, availability of data, materials, etc.
Where there are multiple corresponding authors, the first listed corresponding author’s specific responsibilities include:
- Upon acceptance, ensuring that all listed authors agree to the license agreement
- Arranging for payment of Page Charges/Article Processing Charges where required. The affiliation of the corresponding author will be used to determine eligibility for discounted or waived charges including discounted or waived APCs under read and publish/offsetting/OA agreements
Please note that the author names entered into the manuscript submission and peer review system should be identical to the information presented on the title page of the manuscript, including the sequence of authorship. The author names submitted should reflect the official publication names. It is the submitting (corresponding) author’s responsibility to ensure the accuracy of all content in the proof, including the names of co-authors, addresses and affiliations.
Before submission, please read the Submission Guidelines in full for specific requirements for manuscript preparation.
A brief cover letter outlining how your study contributes to the current scientific literature and how it fits the aims and scope of the Journal should be provided. If your submission is part of a special issue of the journal, please refer to the specific name of the special issue in your cover letter and specify who invited the submission where appropriate.
Submission Declaration
The submitting author will submit, on behalf of all authors, their manuscript for potential publication after full peer-review. All co-authors will confirm that the submitting author has authority to act on their behalf via the verification link sent out to all authors upon completion of the submission. Please refer to the Submission Declaration PDF for details.Documents
Submission Declaration (PDF, 89 KB)
