EJ

European Journal of Human Genetics

European Journal of Human Genetics publishes research in human genetics, genomics, molecular, clinical, and cytogenetics, and features original research, reviews, editorials, comments, and themed collections.

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Subject Genetics & Heredity
Impact Factor 4.6
Quartile Q1
Open Access Type Hybrid
ISSN 1018-4813
eISSN 1476-5438
Invitation Only No
Cost Range Open access APC: £2890.00 / $4290.00 / €3290.00, subject to VAT or local taxes where applicable. Traditional publishing model: no APC charges apply.

Submission Instructions

European Journal of Human Genetics accepts the following article types. Click on an article type to view submission instructions.

Article

Cover Letter Cover letter is required and must include the corresponding author's affiliation and contact information. Cover letter must briefly explain the importance of the work, why it suits the journal's readership, and state that the submission is original research not previously published or under consideration elsewhere.
Abstract An abstract is required. Abstract must be unstructured and no more than 250 words. Abstract must be unstructured.
Manuscript Main text must not exceed 4,000 words excluding the abstract, references, and tables and figures. Manuscript must contain a title page, abstract, introduction, materials or subjects and methods, results, discussion, data availability statement, code availability if required, references, acknowledgements, author contributions, funding, ethical approval, competing interests, figure legends, tables, and figures. Manuscript must include 3 to 6 keywords on the abstract page, a Data Availability Statement, a code availability statement if required, and documentation of any large language model use in the Methods section or another suitable section if no Methods section is available.
References Manuscript may include a maximum of 50 references. References must follow Vancouver format. In-text citations must be numbered sequentially, references must be listed in numerical order, list all authors if there are up to six and the first six followed by et al. if there are more than six, and include first and last page numbers.
Figures & Tables Manuscript may include a maximum of 4 tables and 4 figures. Figures must not be embedded in the text and must be uploaded as separate files, and each table must be uploaded separately. Figure legends must appear on a separate manuscript page after the references, tables must be editable and clearly labelled sequentially, and figures and tables must be cited in the text in order.
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Review Article

Cover Letter A cover letter is required. Cover letter must include the corresponding author's affiliation and contact information, briefly explain the importance of the work and its suitability for the journal's readership, and state that the material is original, unpublished, and not under consideration elsewhere.
Abstract An abstract is required. Abstract must be no more than 250 words. Abstract must be unstructured. No mandatory abstract headings are specified.
Manuscript Main text must not exceed 6,000 words excluding the abstract, references, and tables/figures. Manuscript must include an unstructured abstract and 3 to 6 keywords on the abstract page. Manuscript must include 3 to 6 keywords on the abstract page and document any use of a large language model in the Methods section or another suitable section if no Methods section is available.
References References must not exceed 70. References must follow Vancouver format. References must be numbered in order of citation, listed in numerical order, include all authors when there are up to six or the first six followed by et al. when there are more than six, and provide first and last page numbers.
Figures & Tables Manuscripts may include a maximum of 4 tables and 4 figures. Figures must not be embedded in the text and must be uploaded as separate files, and each table must be uploaded separately. Figure legends must appear on a separate manuscript page after the references section, figures and tables must be labelled sequentially and cited in order in the text, and tables must be editable.
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Brief Communication

Cover Letter A cover letter is required. Cover letter must provide the corresponding author's affiliation and contact information, briefly explain the importance of the work and its suitability for the journal's readership, state that the submission is original and not previously published or under consideration elsewhere, and note any competing interests.
Abstract An abstract is required. Abstract must be unstructured and no more than 150 words. Abstract must be unstructured. No mandatory abstract headings are specified.
Manuscript Main text must not exceed 1,500 words excluding the abstract, references, and tables/figures. Manuscript must contain a title page, abstract, introduction, materials or subjects and methods, results, discussion, references, acknowledgments, author contribution statement, competing interests, figure legends, tables, and figures. Manuscript must include 3 to 6 keywords on the abstract page and document any use of a large language model in the Methods section or another suitable section if no Methods section is available.
References Reference list must not exceed 20 references. References must follow Vancouver format. References must be cited in the text as numbered citations and listed in numerical order, with all authors listed for up to six authors and the first six followed by et al. for more than six authors.
Figures & Tables A maximum of 3 tables or figures is permitted. Figures must not be embedded in the text and must be uploaded as separate files, and each table must be uploaded separately. Figure legends must appear on a separate manuscript page after the references section, and tables must be editable and clearly labelled sequentially.
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Correspondence

Cover Letter A cover letter is required. Cover letter must include the corresponding author’s affiliation and contact information, briefly explain the importance of the work and its suitability for the journal’s readership, and state that the material is original research, has not been previously published, and is not under consideration elsewhere.
Abstract Abstract is not required.
Manuscript Main text must not exceed 1,000 words. Use of a large language model must be documented in the Methods section or, if no Methods section is available, in a suitable alternative part of the manuscript.
References A maximum of 10 references is permitted. References must follow Vancouver format. In-text references must be numbered starting at one and the reference list must be double-spaced in numerical order of citation, listing all authors up to six and the first six followed by et al. for more than six.
Figures & Tables Tables and figures must be uploaded as supplementary material. Figures must be labelled sequentially and cited in the text, and composite figures containing more than three individual figures count as two figures.
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Recent Publications

Scaling up genomic newborn screening: implementation lessons from the BabyScreen+ study

Nathasha Kugenthiran, Erin Tutty, Anaita Kanga-Parabia, Jade Caruana, Katrina Scarff, Nitzan Lang, Lilian Downie, Sebastian Lunke, Alison D. Archibald, Zornitza Stark, Stephanie Best

10.1038/s41431-026-02192-w
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Genome-wide assessment of rare protein-coding variants identifies associations with non-syndromic cleft lip/palate

Yao Yu, Gabriel J. Kowalczyk, Chad D. Huff, Jacqueline T. Hecht, Ariadne Letra

10.1038/s41431-026-02189-5
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Who and how we engage: A systemic mapping of stakeholder perspectives on genomic newborn screening

Amicia Phillips, Kate Lyle, Dahria Kuyser, Anneke Lucassen, Caroline F. Wright, Leigh Jackson

10.1038/s41431-026-02185-9
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Diagnostic discovery of structural variants causing foveal hypoplasia using SVRare and long-read nanopore sequencing

Mohammed A. M. Derar, Jing Yu, Christopher M. Watson, Martin McKibbin, Sandra M. Bell, Chris F. Inglehearn, Carmel Toomes

10.1038/s41431-026-02190-y
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Unraveling missing variants through target capture-based long-read sequencing in autosomal recessive disorders

Jee-Soo Lee, Kyeong Seon Ryu, Hyesu Lee, Hara Lim, Seonhoo Youn, Hansol Lim, Seung Won Chae, Hobin Sung, Sung Im Cho, Yeseul Kim, Joo Won Jang, Hoyeon Lee, Jin Sook Lee, Jung Min Ko, Jong-Hee Chae, Moon-Woo Seong

10.1038/s41431-026-02197-5
View Publication

Frequently asked questions

How long does it take to publish?

Submission to first editorial decision is 5 median days. Submission to acceptance is 149 median days.

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Is a cover letter required?

A cover letter is required. It must include the corresponding author's affiliation and contact information, explain the importance of the work and its suitability for the journal's readership, confirm originality and exclusive submission, and include previous reviewer comments if the manuscript was previously considered by another journal.

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What are the publication costs?

Open access APC: £2890.00 / $4290.00 / €3290.00, subject to VAT or local taxes where applicable. Traditional publishing model: no APC charges apply.

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Research Topics

Genomics and Rare Diseases Genomic variations and chromosomal abnormalities BRCA gene mutations in cancer Genetic Associations and Epidemiology Genetics and Neurodevelopmental Disorders Prenatal Screening and Diagnostics RNA modifications and cancer Genetic Syndromes and Imprinting Genetic factors in colorectal cancer Mitochondrial Function and Pathology Epigenetics and DNA Methylation Ethics in Clinical Research Cancer Genomics and Diagnostics Congenital heart defects research Forensic and Genetic Research Genetic Neurodegenerative Diseases RNA Research and Splicing Metabolism and Genetic Disorders Genetic Mapping and Diversity in Plants and Animals Connective tissue disorders research Neurogenetic and Muscular Disorders Research Chromosomal and Genetic Variations RNA regulation and disease Autism Spectrum Disorder Research Biomedical Ethics and Regulation

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