HM

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.
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 and supplied in separate files, and tables must be cited consecutively with descriptive titles.
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Recent Publications

Partial Loss of FITM2 Function Causes Hereditary Spastic Paraplegia

Ainara Salazar-Villacorta, Laura M. Bond, Leehyeon Kim, Katherine Anagnostopoulou, Annarita Scardamaglia, Eugenia Filippakopoulou, Athina Ververi, Stephanie Efthymiou, Argirios Dinopoulos, David Murphy, Chrisoula Kartanou, Dimitrios M. Vrachnos, Theodoros Loupis, Perilikis Makrythanasis, Leonidas Stefanis, Georgia Karadima, Georgios Koutsis, Marios Kaliakatsos, Henry Houlden, Tobias C. Walther, Robert V. Farese

10.1155/humu/5893503
View Publication

CCR5, CD163, CSF1R, and FCGR3A as Candidate Biomarkers Associated With Mitophagy in Atherosclerosis

Jiadong Fu, Yongda Dong

10.1155/humu/3810886
View Publication

Identification of Immuno‐Diagnostic and Therapeutic Markers in Tumors and Inflammatory Diseases Based on Single‐Cell and Machine Learning Methods

Jinfen Tang, Denggao Yuan, Zhou Wu, Yangyang Xie, Jianfen Xu

10.1155/humu/5519367
View Publication

Insights Into RP2 ‐Associated Retinopathy: From Molecular Basis to Clinical Translation

Nina Bögershausen, Patricia Döring, Maximilian Gerhardt, Alisa Fedorenko, Carolin Strohmeyer, Rozhin Bayati, Yun Li, Gökhan Yigit, Emrah Kaygusuz, Oscar Gutiérrez-Gutiérrez, Marianne Gaubert, Behnam Javanmardi, Karin Boss, Antonia Kowallick, Peter Krawitz, Stylianos Michalakis, Marius Ueffing, Wolfram-Hubertus Zimmermann, Hans Hoerauf, Hildegard Büning, Nicolas Feltgen, Lukas Cyganek, Bernd Wollnik

10.1155/humu/1839164
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Next‐Generation Sequencing to Identify Genetic Causes of Chinese Patients Affected With Non‐retinal Developmental Eye Disorders

Xiaozhen Liu, Ruixuan Jia, Yaning Zhao, Shicheng Yu, Boling Xu, Liping Yang, Jing Hong

10.1155/humu/4035027
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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