The journal conforms to the ICMJE requirement that clinical trials are registered in a WHO-approved public trials registry at or before the time of first participant enrollment as a condition of consideration for publication. The trial registry name and URL, and registration number must be included at the end of the abstract.

Accepted file types

The preferred format for your manuscript is Word. You do not need to follow a template, but please ensure your heading levels are clear, and the sections clearly defined.

Your article title, keywords, and abstract all contribute to its position in search engine results, directly affecting the number of people who see your work. For details of what you can do to influence this, visit How to help readers find your article online.

Regarding formatting and manuscript structure

• Please ensure that, when naming files, please avoid the use all all special characters, including dashes, spaces, underscores, periods, symbols, accented letters, etc. For example, please use "Figure3.tif" rather than "Figure_3.tif", "Figure-3. tif", "Figure.3.tif" or similar.
• Please use line numbering in your manuscript.
• All author names should be spelled out in full with first name followed by family/surname, and highest earned degree. 
• Please include the full contact information of the corresonding author at the end of the manuscript, before the reference section.
• Ensure that high resolution figure files are uploaded as individual files, and that that editable tables and figure legends are uploaded as a single separate table file, and a signle separate legends file or are, alternatively, added to the end of the manuscript file.

All submissions must contain: 

• An Institutional Review Board (IRB) approval (or waiver) statement in the Methods section 
• Acknowledgments section (if applicable) after the Conclusion of the manuscript, followed by 
• An Author Contribution statement for each listed author, followed by:
• An Author Disclosure Statement for each author listed on a submission, even if there are no conflicts to disclose, followed by, 
• Funding statement(s), even if there is no funding information to declare. 

Authors must confirm that all of the research meets the ethics guidelines, including adherence to the legal requirements of the country where the study was performed. Please scroll down to policy guiedines for additional information.

Institutional Review and Clinical Trials

For clinical studies, experimental subjects should be described in detail and the institutional review and informed consent should be obtained as appropriate. Clinical trials should have prospective and public registration or else they may not be considered for publication. The authors should ascertain that their experimental procedures are in compliance with the guiding principles for the “Care and Use of Vertebrate Animals” published in the Information for Authors of the American Journal of Physiology. 

Abstract 

For a Clinical or Basic Original Study, Reviews, and Case Studies, the abstract must be organized into the following four sections: Background, Methods, Results, and Conclusions. Start each section of the abstract in a new paragraph. The Background section should have one or two sentences regarding the background, followed by one or two sentences that state the objective of the study or the hypothesis that is tested in the study. The Conclusions should not restate the results but rather summarize the major findings and provide the reader with an indication of their importance and how they alter, support, extend, or refute widely held concepts. For Review and Scholarly Dialog articles, the abstract sections are as follows: Background, Summary, and Conclusions. For Patients with Remarkable Features or Rare Disorders, the abstract sections are as follows: Background, Patient Findings, Summary, and Conclusions. 

Manuscript Text 

Maximum word count for original studies should not exceed 3,000 words. For a Clinical or Basic Original Study and Reviews use the following sections: Introduction, Materials and Methods, Results, and Discussion. The Introduction should state the hypothesis in specific terms and provide a brief background that supports its rationale and importance. Review and Scholarly Dialog articles should be organized into the following sections: Introduction, Review, Summary, and Conclusions. For Patients with Remarkable Features or Rare Disorders there should be a brief introduction followed by a section titled Patient(s) (not “Case[s]”) followed by a discussion. 

BRIEF REPORTS on novel mutations associated with inherited thyroid disorders 

Reports on novel mutations associated with genetic thyroid disorders or recurring mutations that provide novel insights into the phenotypic spectrum should be prepared according to the following guidelines. 

• The index subject and family members should be evaluated with appropriate informed consent or/and assent. 
• Minimum information on the index subject should include: sex, age at the time of investigation, consanguinity, ethnic background and clinical presentation. The mode of transmission should be reported unless it is a de novo mutation. 
• Results from thyroid function testing are mandatory and abnormalities should be validated with a repeat measurement. When available, include relevant ancillary studies. 
• The minimum requirement is the study affected and unaffected first-degree relatives; if this is not possible, the reason for not studying family members should be mentioned. Include both clinical data and thyroid function tests. 
• Results from thyroid function tests should be as detailed as possible. Include analytical method, reference range, whether the sample was taken with or without treatment, and how long the treatment was stopped prior to the sampling. In case of dynamic testing (e.g. TRH test, T3 suppression test), indicate dose, duration, whether the individual was on any other treatment, and reference range for response. 
• Information regarding the identification of the mutation should include the source of DNA or RNA, the method of isolation and mutational analysis. Indicate cDNA and protein change and clarify the numbering of amino acids, for example in the presence of a signal peptide indicate if the numbering refers to the mature molecule or not. For the description of mutations refer to Antonarakis SE. Recommendations for a nomenclature system for human gene mutations. Hum Mutat 1998;11:1-3. When the mutation is not present in the parents of the index subject, haplotype data could be added to support the presence or absence of allele sharing. 
• If the mutation is novel and not reported previously, provide evidence that it has not been reported in public databases (e.g. 1000 Genomes, dbSNP, Genome Variant Server) and that it is not a simple polymorphic variant. Provide in silico information on the expected effect of the mutation on protein function reporting scores from the SIFT and PolyPhen-2 algorithms. If possible, there should be data showing that the mutation has functional consequences. If in silico data is not supportive of the latter, in vitro studies should be included. If available, add information about protein structure and function, and interaction with other molecular partners. 

Abbreviations and Nomenclature 

Abbreviations and nomenclature should follow recommendations of the International Union of Biochemistry and Molecular Biology (IUBMB; Recommendations on Biochemical and Organic Nomenclature, Symbols and Terminology) at https://www.qmul.ac.uk/sbcs/iubmb/ The International System of Units (SI units) is recommended, but conventional units may also be used. In either case, it is desirable to include appropriate conversion factors to aid the reader. The list of abbreviations in the Journal of Endocrinology is generally acceptable in Thyroid. 

Novel abbreviations should be kept to a minimum and must be defined when they first appear. Drug names should always be generic. Pedigrees should be drawn according to published standards (see Am J Hum Genet 56:745–752).(1) Human gene names and loci should be written in italicized capital letters and Arabic numerals (e.g., PAX8). Mouse genes should be written in italic using sentence case (e.g., Pax8). Protein names are not italicized (e.g., PAX8). For the description of human mutations, refer to Hum Mutat 11:1–3. (https://onlinelibrary.wiley.com/doi/epdf/10.1002/%28SICI%291098-1004%281998%2911%3A1%3C1%3A%3AAID-HUMU1%3E3.0.CO%3B2-O).(2) When a manuscript that contains novel sequences is accepted, the sequences must be deposited in the appropriate database (such as GenBank), an accession number obtained before the manuscript is sent to the publisher, and the accession number added in a footnote. 

___________________________________________ 
1. Bennett RL, Steinhaus KA, Uhrich SB, O’Sullivan CK, Resta RG, Lochner-Doyle D, Markel DS, Vincent V, Hamanishi J. Recommendations for standardized human pedigree nomenclature. Pedigree Standardization Task Force of the National Society of Genetic Counselors. Am J Hum Genet 1995;56:745–752. 

2. Antonarakis SE. Recommendations for a nomenclature system for human gene mutations. Hum Mutat 1998;11:1–3. 

Details for reference formatting

• Reference List: Prepared in sequential order as cited in text. 
• In-text Citations: All references must be cited in text in numerical order, set in superscript Arabic numerals outside of any punctuation. Do not set reference numbers in parentheses or brackets. To cite several references at once, use commas to separate non-sequential citations and use dashes to separate sequential citations; do not include spaces. Ex: 3,7,12–15 
• Journal titles should follow the abbreviation style of PubMed/Medline. 

Style Examples for Reference List: 

Type of Reference 

Punctuation and Order of Elements in Reference List 

Journal article with 1-3 authors 

Wang Q, Nambiar K, Wilson JM. Isolating natural adeno-associated viruses from primate tissues with a high-fidelity polymerase. Hum Gene Ther 2021;32(23-24):1439-1449; doi: 10.1089/hum.2021.055.

Include among the references any articles that have been accepted but have not yet published; identify the name of publication and add "In Press." If the reference has been published online, provide the DOI number in place of the page range.

Journal article with more than 3 authors 

Pfister EL, DiNardo N, Mondo E, et al. Artificial miRNAs reduce human mutant Huntington throughout the striatum in a transgenic sheep model of Huntington's disease. Hum Gene Ther 2018;29(6):663–673; doi: 10.1089/hum.2017.199.
 
Include among the references any articles that have been accepted but have not yet published; identify the name of publication and add "In Press." If the reference has been published online, provide the DOI number in place of the page range.

Edited Book 

Herzog RW, Zolotukhin S, (eds). A Guide to Human Gene Therapy. World Scientific Publishing Co. Pte. Ltd.: Singapore; 2010. 

Chapter in an Edited Book 

Nicklin SA, Baker AH. Adenoviral Vectors. In: A Guide to Human Gene Therapy. (Herzog RW, Zolotukhin S. eds.) World Scientific Publishing Co. Pte. Ltd.: Singapore; 2010; pp. 21-36. 

Authored Book 

Isaacson W. The Code Breaker: Jennifer Doudna, Gene Editing, and the Future of the Human Race. Simon & Schuster: New York, NY; 2021. 

Website 

Last name, first/middle initial(s) of author(s) [if available]. U.S. Food and Drug Administration. What is Gene Therapy? Silver Spring, MD; 2018. Available from: https://www.fda.gov/vaccines-blood-biologics/cellular-gene-therapy-products/what-gene-therapy [Last accessed: month/date/year]. 

Personal communications 

References that are unpublished (ie: personal communications, emails, letters) are not to be included in the reference list. Instead, insert “Personal communication; [name], date” parenthetically at the point of citation within text.

Using previously published images or tables as a reference 

Reused/adapted images, tables, or any published material must be officially cited as a reference in the reference list, and the author(s) of the submitted work must obtain written permission from the copyright holder. Verbal approvals are not acceptable. Any fees associated with the reuse or adaptation of any material is the sole responsibility of the author(s). 

Title

Your manuscript’s title should be concise, descriptive, unambiguous, accurate, and reflect the precise contents of the manuscript. A descriptive title that includes the topic of the manuscript makes an article more findable in the major indexing services.

Abstract

Please include a structured abstract of 350 words between the title and main body of your manuscript that concisely states the purpose of the research, major findings, and conclusions. If your research includes clinical trials, the trial registry name and URL, and registration number must be included at the end of the abstract. Submissions that do not meet this requirement will not be considered.

For clinical trials, the trial registry name and URL, and registration number must be included at the end of the abstract.

Keywords

Please include a minimum of 5 keywords, listed after the abstract. Keywords should be as specific as possible to the research topic.

Artwork, figures, and other graphics

For guidance on the preparation of illustrations, pictures, and graphs in electronic format, please read Sage’s artwork guidelines.

Figures supplied in color will appear in color online regardless of whether or not these illustrations are reproduced in color in the printed version. If you have requested color reproduction in the print version, we will advise you of the costs on receipt of your accepted article.

Please ensure that you have obtained any necessary permission from copyright holders for reproducing any illustrations, tables, figures, or lengthy quotations previously published elsewhere. For further information including guidance on fair dealing for criticism and review, please see the Frequently Asked Questions page on the Sage Journal Author Gateway.

Title page

The Title Page should include:

• Article title
• The full list of authors including names and affiliations of each
• The listed affiliation should be the institution where the research was conducted. If an author has moved to a new institution since completing the research, the new affiliation can be included in a note at the end of the manuscript – please indicate this on the title page.
• All persons eligible for authorship must be included at the time of submission (please see the authorship section for more information).
• Contact information for the corresponding author: name, institutional address, phone, email
• Acknowledgments section
• Declaration of conflicting interest
• Funding statement
• Ethical approval and informed consent statements
• Data availability statement
• Any other identifying information related to the authors and/or their institutions, funders, approval committees, etc, that might compromise anonymity.

Acknowledgments

If you are including an Acknowledgements section, this will be published at the end of your article. The Acknowledgments section should include all contributors who do not meet the criteria for authorship. Per ICMJE recommendations, it is best practice to obtain consent from non-author contributors who you are acknowledging in your manuscript.

Writing assistance and third party submissions: if you have received any writing or editing assistance from a third-party, for example a specialist communications company, this must be clearly stated in the Acknowledgements section and in the covering letter. Please see the Sage Author Gateway for what information to include in your Acknowledgements section. If your submission is being made on your behalf by someone who is not listed as an author, for example the third-party who provided writing/editing assistance, you must state this in the Acknowledgements and also in your covering letter. Please note that the journal editor reserves the right to not consider submissions made by a third party rather than by the author/s themselves.

Statements and declarations

Please include a section with the heading ‘Statements and Declarations’ at the end of your submitted article, after the Acknowledgements section [and Author Contributions section if applicable] including each of the sub-headings listed below. If a declaration is not applicable to your submission, you must still include the heading and state ‘Not applicable’ underneath. Please note that you may be asked to justify why a declaration was not applicable to your submission by the Editorial Office.

Ethical considerations

Please include your ethics approval statements under this heading, even if you have already included ethics approval information in your methods section. If ethical approval was not required, you need to explicitly state this. You can find information on what to say in your ethical statements as well as example statements on our Publication ethics and research integrity policies page.

All papers reporting studies involving human participants, human data or human tissue must state that the relevant Ethics Committee or Institutional Review Board approved the study, or waived the requirement for approval, providing the full name and institution of the review committee in addition to the approval number. If applicable, please also include this information in the Methods section of your manuscript.

Consent to participate

Please include any participant consent information under this heading and state whether informed consent to participate was written or verbal. If the requirement for informed consent to participate has been waived by the relevant Ethics Committee or Institutional Review Board (i.e. where it has been deemed that consent would be impossible or impracticable to obtain), please state this. If this is not applicable to your manuscript, please state ‘Not applicable’ in this section. More information and example statements can be found on our Publication ethics and research integrity policies page.

Consent for publication

Submissions containing any data from an individual person (including individual details, images or videos) must include a statement confirming that informed consent for publication was provided by the participant(s) or a legally authorized representative. Non-essential identifying details should be omitted. Please do not submit the participant’s actual written informed consent with your article, as this in itself breaches the patient’s confidentiality. The Journal requests that you confirm to us, in writing, that you have obtained written informed consent to publish but the written consent itself should be held by the authors/investigators themselves, for example in a patient’s hospital record. The confirmatory letter may be uploaded with your submission as a separate file in addition to the statement confirming that consent to publish was obtained within the manuscript text. If this is not applicable to your manuscript, please state ‘Not applicable’ in this section.

Declaration of conflicting interest

The journal requires a declaration of conflicting interests from all authors so that a statement can be included in your article. For guidance on conflict of interest statements, see our policy on conflicting interest declarations and the ICMJE recommendations.

If no conflict exists, your statement should read: ‘The author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article’.

Funding statement

All articles need to include a funding statement, under a separate heading, even if you did not receive funding. You’ll find guidance and examples on our Funding page.

Reference style and citations

The journal follows the Sage Vancouver reference style. View the Sage Vancouver guidelines to ensure your manuscript conforms.

Every in-text citation must have a corresponding citation in the reference list and vice versa. Corresponding citations must have identical spelling and year.

Authors should update any references to preprints when a peer reviewed version is made available, to cite the published research. Citations to preprints are otherwise discouraged.

EndNote

If you use EndNote to manage references, you can download the Sage Vancouver EndNote output file

Supplemental material

This Journal can host additional materials online (e.g. datasets, podcasts, videos, images etc.) alongside the full text of the article. Your supplemental material must be one of our accepted file types. For that list and more information please refer to our guidelines on submitting supplemental files.

English language editing services

Authors seeking assistance with English language editing, translation, or figure and manuscript formatting to fit the journal’s specifications should consider using Sage Author Services. Visit Sage Author Services for further information.

The journal will consider submissions of manuscripts that have been posted on preprint servers.

Please enter the preprint DOI in the designated field when submitting your manuscript. We advise that you inform the Journal Editorial office about your posted preprint at submission.

Note that you should not post an updated version of your manuscript on a preprint server while it is being peer reviewed.

Learn more about our preprint policy.

• ORCID ID of the submitting author.
  • It is strongly encouraged that all co-authors ensure their ORCID IDs are linked to their accounts in the submission system prior to article acceptance, as this is the only way to have their ORCID ID present on the published article. ORCID IDs cannot be added to manuscripts after acceptance/publication. Please note that each co-author must log in to the submission system to add their own ORCID ID to their account. To add an ORCID ID, edit your account, click the link when prompted, and sign into your ORCID account to validate your ID. You will then be redirected back to the submission system and your ORCID ID will become part of your accepted publication’s metadata.
  • Please create an ORCID ID if you do not already have one or visit our ORCID homepage to learn more.