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The American Journal of Human Genetics

European Journal of Human Genetics provides insights into human genetics, genomics, molecular, clinical and cytogenetics research.

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Subject Genetics & Heredity
Impact Factor 8.1
Quartile Q1
Open Access Type Hybrid
ISSN 0002-9297
eISSN 1537-6605
Invitation Only No
Cost Range Article processing charge information is not stated. Colour charges apply for print colour figures, and colour charges do not apply to authors who pay an article processing charge to make their paper Open Access.

Submission Instructions

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

Article

Cover Letter A cover letter is required. The 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, confirm originality and exclusive submission, include previous reviewer comments if the manuscript was considered elsewhere, and note competing interests.
Abstract An abstract is required. The abstract must not exceed 250 words. The abstract must be unstructured.
Manuscript The main text must not exceed 4,000 words excluding the abstract, references, and tables/figures. The manuscript must include a title page, abstract, introduction, materials or subjects and methods, results, discussion, references, acknowledgments, author contribution statement, competing interests, figure legends, tables, and figures. The manuscript must include 3-6 keywords on the abstract page, at least one and up to four subject terms, and documentation of any large language model use in the Methods section or another suitable section if no Methods section is available.
References The manuscript may include a maximum of 50 references. References must follow Vancouver format. References must be cited in the text as numbered citations starting at 1 and listed in numerical order, with up to six authors listed in full or the first six followed by et al. if there are more than six authors.
Figures & Tables The manuscript may include a maximum of 4 tables and 4 figures. Figures must not be embedded within the text and must be uploaded as separate files, and each table must be uploaded separately. Tables must be editable and clearly labelled sequentially, figures and images 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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Review Article

Cover Letter A cover letter is required. The 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, confirm originality and exclusive submission, include previous reviewer comments if the manuscript was considered by another journal, and note competing interests.
Abstract An abstract is required. The abstract must not exceed 250 words. The abstract must be unstructured. No mandatory abstract headings are specified.
Manuscript The main text must not exceed 6,000 words excluding the abstract, references, and tables/figures. The manuscript must include a title page, abstract, introduction, materials or subjects and methods, results, discussion, references, acknowledgments, author contribution statement, competing interests, figure legends, tables, and figures. The manuscript must include 3–6 keywords on the abstract page, at least one and up to four unique subject terms, and documentation of any large language model use in the Methods section or another suitable section if no Methods section is available.
References References are limited to a maximum of 70. References must follow Vancouver format. In-text citations must be numbered consecutively from 1, and the reference list must be in numerical order with up to six authors listed in full or the first six followed by et al. if there are more than six authors.
Figures & Tables A maximum of 4 tables and 4 figures is allowed. Figures must not be embedded in the text and must be uploaded as separate files, and each table must be uploaded separately. Composite figures containing more than three individual figures count as two figures.
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Brief Communication

Cover Letter A cover letter is required. The 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 confirm originality and exclusive submission, with competing interests also noted.
Abstract An abstract is required. The abstract must not exceed 150 words. The abstract must be unstructured.
Manuscript The main text must not exceed 1,500 words excluding the abstract, references, and tables/figures. The manuscript must include a title page, abstract, introduction, materials or subjects and methods, results, discussion, references, acknowledgments, author contribution statement, competing interests, figure legends, tables, and figures. The abstract page must include 3-6 keywords, the manuscript must include an author contributions section and a funding section, and any use of a large language model must be documented in the Methods section or a suitable alternative section if no Methods section is available.
References References are limited to a maximum of 20. References must follow Vancouver format. References must be cited in the text as numbered citations starting at 1 and listed in numerical order, with up to six authors named in full and more than six truncated after the first six with et al.
Figures & Tables A maximum of 3 tables or figures may be included. Figures must not be embedded in the text and must be uploaded as separate files, and each table must be uploaded separately. Tables must be editable and clearly labelled sequentially, and composite figures containing more than three individual figures count as two figures.
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Correspondence

Cover Letter A cover letter is required. The 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, confirm originality and exclusive submission, include previous reviewer comments if the manuscript was considered elsewhere, and note competing interests.
Abstract Abstract is not required.
Manuscript Main text must not exceed 1,000 words. At least one and up to four unique subject terms must be provided, an author contributions section and funding section are mandatory, and any use of a large language model must be documented in the Methods section or another suitable part of the manuscript if no Methods section is available.
References No more than 10 references may be included. References must follow Vancouver format. References must be numbered in order of citation, listed in numerical order, include all authors if there are up to six or the first six followed by et al. if there are more than six, and provide first and last page numbers.
Figures & Tables Tables and figures must be uploaded as supplementary material. Tables and figures must be labelled sequentially and cited in the text in the correct order.
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Recent Publications

Functional stratification of YWHAZ variants explains distinct neurodevelopmental disorders

Ivan K. Popov, Marialetizia Motta, Ingrid Guarnetti Prandi, Jiahui Tao, Manuela Priolo, Marco Ferilli, Rami Abou Jamra, Elsa V. Balton, Guillaume Banneau, Alessandro Bruselles, Krista Bukele, Cristel Chapel-Crespo, Giovanni Chillemi, Andrea Ciolfi, Viviana Cordeddu, Amy Crunk, Paola Daniele, Alessandro De Luca, Martine Doco-Fenzy, Ellen R. Elias, Elisabetta Flex, Balram Gangaram, Kathryn Gasperian, Katheryn Grand, Deborah Holder, Sophie Julia, Eric Klee, Boris Keren, Chiara Leoni, Kathleen A. Leppig, Cecilia Mancini, Monica Marica, Ieva Micule, Roberta Onesimo, Tilman Polster, Francesca Clementina Radio, Omar A. Abdul-Rahman, Anita Rauch, Lisa A. Schimmenti, Samantha A. Schrier Vergano, Christina Szialta, Jeffrey Tenney, Martina Terrusa, Kathryn Nicole Weaver, Nancy William, Grace Yoon, Giuseppe Zampino, Chenbei Chang, Marco Tartaglia

10.1016/j.ajhg.2026.10.001
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De novo variants in the essential splicing factor gene SRSF3 cause variable developmental phenotypes

Jasmin Lisfeld, Ivan K. Chinn, Bo Yuan, Christian Casar, Christian Müller, Eyal Elron, Gal Zaks Hoffer, Naama Orenstein, Kristian Tveten, Julian Delanne, Hana Safraou, Anne-Sophie Denommé-Pichon, Erfan Aref-Eshghi, Nathaniel H. Robin, Elizabeth D. Rothrock, Ingrid M. Wentzensen, Gwendolyn J. Messer, Rhonda E. Schnur, Rachel Rabin, Sivan Lewis, Frank Sleutels, Sarina G. Kant, James R. Lupski, Kerstin Kutsche, Frederike L. Harms

10.1016/j.ajhg.2026.09.018
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The genetic architecture of pentanucleotide repeat variation and disease association

Isaac R.L. Xu, David Pellerin, Liedewei Van De Vondel, Ben Weisburd, Egor Dolzhenko, Matt C. Danzi, Stephan Zuchner

10.1016/j.ajhg.2026.09.017
View Publication

Accurate detection of sub-1% frequency somatic mutations by whole-genome sequencing

Yeongjun Jang, Stephanie Gardiner, Yifan Wang, Abhiram Natu, Mrunal K. Dehankar, Livia Tomasini, Arijit Panda, Carrie Cibulskis, Lisa Anderson, Tim H.H. Coorens, Ji Won Oh, Alexander E. Urban, Kristin Ardlie, Gabor Marth, Flora M. Vaccarino, Alexej Abyzov

10.1016/j.ajhg.2026.09.010
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De novo MAP2K4 variants cause a neurodevelopmental syndrome and impaired JNK signaling in iPSC-derived neurons

Tomoki T. Nomakuchi, Alyssa L. Rippert, Sabrina A. Santos De León, Elizabeth M. Gonzalez, Dong Li, Rajesh Angireddy, Livia Sertori Finoti, Flavio Faletra, Luciana Musante, Rinne Tuula, David J. Amor, Lydia von Wintzingerode, Rami Abou Jamra, Samantha R. Stover, Jillian G. Buchan, Jennifer Hayek, Eyby Leon, Tania Attie-Bitach, Marlene Rio, Genevieve Baujat, Elisabeth Wallach, Amandine Smail, Kerith-Rae Dias, Ulrich Pfeifer, Amanda Peterson, Rebecca C. Ahrens-Nicklas, Elizabeth J.K. Bhoj

10.1016/j.ajhg.2026.09.014
View Publication

Frequently asked questions

How long does it take to publish?

Submission to first editorial decision (median): 5 days. Submission to acceptance (median): 149 days.

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Is a cover letter required?

A cover letter is required. It must include the affiliation and contact information for the corresponding author, explain the importance of the work and its suitability for the journal 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?

Hybrid open access. Colour charges apply for print colour figures, and colour charges do not apply to authors who pay an article processing charge to make their paper Open Access.

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Research Topics

Genetic Associations and Epidemiology Genomic variations and chromosomal abnormalities Genomics and Rare Diseases Genetics and Neurodevelopmental Disorders Genetic Mapping and Diversity in Plants and Animals RNA modifications and cancer Mitochondrial Function and Pathology Epigenetics and DNA Methylation Genetic Syndromes and Imprinting RNA Research and Splicing Metabolism and Genetic Disorders Prenatal Screening and Diagnostics Chromosomal and Genetic Variations BRCA gene mutations in cancer Forensic and Genetic Research Genetic and phenotypic traits in livestock Genetic Neurodegenerative Diseases Congenital heart defects research Genetic factors in colorectal cancer Genomics and Chromatin Dynamics Nutrition, Genetics, and Disease RNA and protein synthesis mechanisms RNA regulation and disease Connective tissue disorders research Bioinformatics and Genomic Networks

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