Overview Submission Instructions Recent Publications Frequently Asked Questions Research Topics

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Human Mutation

Human Mutation provides a forum for the exchange of ideas, methods, and applications of interest to molecular, human, and medical geneticists in academic, industrial, and clinical research settings worldwide.

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Subject Genetics & Heredity

Impact Factor 3.7

Quartile Q2

Open Access Type Open

ISSN 1059-7794

eISSN 1098-1004

Invitation Only No

Cost Range APC: $3,010 USD / £2,210 GBP / €2,610 EUR

Submission Instructions

Human Mutation accepts the following article types. Click on an article type to view submission instructions.

Research Articles

Cover Letter Cover Letter requirements are not specified.

Abstract An abstract is required. The abstract must not exceed 300 words. Unstructured.

Manuscript The manuscript should include a succinct introduction with no subheadings and methods detailed enough for replication. The manuscript must include line numbers, a data availability statement, all acknowledgments before the references, and an AI use disclosure if AI technology was used.

References References may be in any style, must be numbered consecutively in order of first citation, and must all be cited in the text.

Figures & Tables All figures and tables must be included in the manuscript file on submission. Figures must be cited in consecutive order, tables must be cited consecutively in the text, every table must have a descriptive title, and figures should be supplied in vector art or bitmap formats.

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Reviews

Cover Letter Cover Letter requirements are not specified.

Abstract An abstract is required. Abstract must not exceed 300 words. Unstructured.

Manuscript The manuscript should include a succinct introduction with no subheadings. A data availability statement, funding statement, conflict of interest declaration, acknowledgments before the references, and an AI use disclosure must be included when applicable.

References References may be in any style but must be numbered consecutively in order of first citation and cited in the text.

Figures & Tables All figures and tables should be included in the manuscript file on submission, with figure source files provided after acceptance. Figures must be cited in consecutive order, tables must be cited consecutively and have descriptive titles, table column headings must include units for numerical measurements, and vertical rules should not be used in tables.

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Systematic Review And Meta-Analysis

Cover Letter Cover Letter requirements are not specified.

Abstract An abstract is required. The abstract must not exceed 300 words. The abstract must be unstructured.

Manuscript The manuscript should include an introduction, methods, results, discussion, acknowledgments, and a supplementary material section before the references. The manuscript must include a data availability statement and an AI use disclosure if applicable.

References References may be in any style, but they must be numbered consecutively in the order of first citation and cited within the text.

Figures & Tables All figures and tables must be included in the manuscript file on submission, and figure source files must be provided if the article is accepted. Figures must be cited in consecutive order, tables must be cited consecutively in the text, each figure must be supplied in a separate electronic file, every table must have a descriptive title, vertical rules must not be used in tables, and bitmap figures should be at least 300 dpi unless a lower resolution is scientifically justified.

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Research Letter

Cover Letter Cover Letter requirements are not specified.

Abstract An abstract is required. Abstract must not exceed 100 words. Unstructured.

Manuscript Main text must not exceed 1,000 words. Main text must not include subheadings. A supplementary material section should appear before the references with a concise description of each supplementary file, and the manuscript must include a data availability statement and any required AI use disclosure.

References References are limited to 10. References may be in any style but must be numbered consecutively in order of first citation and cited in the text.

Figures & Tables A maximum of 2 figures or tables combined is allowed. Figures and tables should be included in the manuscript file, and figure source files are required if the article is accepted. Figures must be cited in consecutive order and tables must be cited consecutively in the text.

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Letter To The Editor

Cover Letter Cover Letter requirements are not specified.

Abstract An abstract is not permitted.

Manuscript Submissions are limited to 600 words. No subheadings are permitted.

References References must not exceed 10. References should be numbered consecutively in the order of their first citation, and all references must be cited within the text.

Figures & Tables One figure or table is permitted. All figures and tables must be included in the manuscript file.

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Case Report

Cover Letter Cover Letter requirements are not specified.

Abstract An abstract is required. The abstract must not exceed 300 words. An unstructured abstract is required.

Manuscript Case reports should follow the CARE guidelines. The manuscript must include a data availability statement, a funding statement, a conflict of interest declaration, and a supplementary material section before the references list; AI technology use must be disclosed if applicable.

References References may be in any style but must be numbered consecutively in order of first citation and cited within the text.

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Recent Publications

Integrated Mutation Profiling and Prognostic Genomic Signature in Pediatric Testicular and Ovarian Germ Cell Tumors

Xiaoqi Xuan, Yue Yang, Yongle Li, Jinlong Yang, Hang Wu, Yulong Gong, Guogen Li, Xiao Pu

10.1155/humu/3009537

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Identification of Rare SRY‐Positive Females Without Sex Reversal Carrying Complex X;Y Translocations and SHOX Duplication in a Three‐Generation Pedigree

Xiaoqin Zeng, Dongzhi Li, Han Jin, Fatao Li, Simin Yuan, Yongling Zhang, Yuze Ma, Yaojuan He, Ru Li, Fan Jiang

10.1155/humu/4411999

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Integrated Analysis of Single‐Cell and Bulk RNA‐Seq Reveals ZFP36 as a Novel Endothelial Biomarker for Precision Oncology in Bladder Cancer

Yicheng Lu, Ruiqi Sun, Bin Qin, Yangbo Guan

10.1155/humu/2093161

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Molecular Characterization of TSC1 and TSC2 Variants in a Greek Cohort of Tuberous Sclerosis Complex Patients

Socratis N. Avgeris, Florentia Fostira, Paraskevi Apostolou, Angeliki Delimitsou, Stefanos Smyrniotis, Drakoulis Yannoukakos, Dimitrios J. Stravopodis, Popi Syntichaki, Gerassimos E. Voutsinas

10.1155/humu/4508699

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Structural Genomics Defines PBRM1 Bromodomain Variant Function in ccRCC

Karina L. Bursch, Salomão D. Jorge, Audrey E. Catlin, Raymundo Nuñez, Michael D. LeClaire, Jacob Licklider, Raul A. Urrutia, Brian C. Smith

10.1155/humu/9214621

View Publication

Frequently asked questions

How long does it take to publish?

Submission to first decision: median 29 days. Submission to acceptance: median 118 days. Acceptance to publication: median 31 days.

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What are the publication costs?

Accepted and published articles are subject to an APC of $3,010 USD / £2,210 GBP / €2,610 EUR. Waivers or discounts are available for corresponding authors from institutions in listed countries and locations, and APCs may be covered in part or full through Wiley Open Access Accounts.

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Research Topics

Genomics and Rare Diseases Genomic variations and chromosomal abnormalities Metabolism and Genetic Disorders Cancer Genomics and Diagnostics RNA modifications and cancer RNA and protein synthesis mechanisms Genetic factors in colorectal cancer RNA Research and Splicing Lysosomal Storage Disorders Research Genetics and Neurodevelopmental Disorders DNA Repair Mechanisms Mitochondrial Function and Pathology Connective tissue disorders research CRISPR and Genetic Engineering Cystic Fibrosis Research Advances BRCA gene mutations in cancer RNA regulation and disease Cellular transport and secretion Biochemical and Molecular Research Epigenetics and DNA Methylation Folate and B Vitamins Research Carbohydrate Chemistry and Synthesis Genomics and Phylogenetic Studies Retinal Development and Disorders Genetic Syndromes and Imprinting

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