HM

Human Molecular Genetics

Human Molecular Genetics publishes high quality studies related to human molecular genetic disease mechanisms, spanning analysis of mutated genes and disease susceptibility through to therapeutics. The journal regularly publishes Review Issues each year, with topical invited articles showcasing developments in genetic innovation.

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Subject Genetics & Heredity
Impact Factor 3.2
Quartile Q2
Open Access Type Closed
ISSN 0964-6906
eISSN 1460-2083
Invitation Only Yes
Cost Range Institutional online-only access: £2290.00 / $4349.00 / €3435.00 per year.

Submission Instructions

Human Molecular Genetics is an invitation-only journal. Submissions are accepted by invitation from the editorial board only. The following article types are accepted:

Original Articles

Cover Letter Cover Letter requirements are not specified.
Abstract Original Articles must include an abstract. Abstract must not exceed 250 words. Abstract must be unstructured. Abstract must include Background, Methods, Results, and Conclusion(s).
Manuscript Main text should not exceed 4000 words. Manuscript should be subdivided into Title Page, Abstract, Introduction, Results, Discussion, Materials and Methods, Funding, Acknowledgements, Conflict of Interest Statement, References, Legends to Figures, Tables, and Abbreviations. Manuscript must include a Funding section, a Conflict of Interest Statement, and alt text directly under each figure legend.
References References must use the Oxford SCIMED referencing style. References must be numbered in order of appearance in the text in parentheses and listed numerically, with 10 authors listed before adding et al.
Figures & Tables Figures should be uploaded as separate files. All figures and tables must be numbered and cited in the text, and all figures and tables must have legends.
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Review Article

Cover Letter Cover Letter requirements are not specified.
Abstract A proposal abstract is required before submission as part of the review article proposal. The manuscript abstract must not exceed 250 words.
Manuscript Review articles must follow the section sequence Title Page, Abstract, Introduction, Results, Discussion, Materials and Methods, Funding, Acknowledgements, Conflict of Interest Statement, References, Legends to Figures, Tables, and Abbreviations.
References References must use the Oxford SCIMED referencing style. References must be numbered in order of appearance in the text in parentheses and listed numerically, with up to 10 authors listed before et al. is used.
Figures & Tables Figures should be uploaded as separate files rather than embedded only in the manuscript. All figures and tables must be numbered, cited in the text, and accompanied by legends, and tables must be provided in editable format.
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Research Letters

Cover Letter Cover Letter requirements are not specified.
Abstract Abstract must not exceed 250 words.
Manuscript Main text must be no more than 1,000 words. Manuscript must include Introduction, Methods, Results, and Discussion sections and must not use headings.
References Manuscript may include no more than 15 references. References must use the Oxford SCIMED referencing style. References must be numbered in order of appearance in the text in parentheses and listed numerically in the reference list, with up to 10 authors listed before et al. is used.
Figures & Tables Manuscript may include no more than one figure or table. Figures should be submitted as separate files. All figures and tables must be numbered and accompanied by legends.
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Letters To The Editor

Cover Letter Cover Letter requirements are not specified.
Abstract Abstract requirements are not specified.
Manuscript Letter must concern an article published in Human Molecular Genetics within the last five years and must not contain unpublished data.
References Letter must not exceed 10 references. References must use the Oxford SCIMED style. References must be numbered in order of appearance in parentheses, listed numerically, and list up to 10 authors before adding et al.
Figures & Tables Figures should be uploaded as separate files rather than embedded only in the manuscript.
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Recent Publications

Functional constraint, not evolutionary domain expansion, is a stronger correlate of pathogenic variant burden in human RNA-binding proteins

Kyota Yasuda

10.1093/hmg/ddag067
View Publication

DDX3X syndrome mutations lock DDX3X-RNA conformational states to drive persistent pathological condensation and neuronal death

Poulami Ghosh, Shivani Krishna Kapuganti, Sabhyata Gopal, Vhasnsciani A R, Swati Lamba, Purusharth I Rajyaguru, Sannula Kesavardhana

10.1093/hmg/ddag066
View Publication

A de novo TRPV4 variant c.2479C>G (p.Pro827Ala) in Spondylometaphyseal dysplasia Kozlowski type: identification and functional analysis

Congcong Teng, Ming He, Chao Zhang, Juhua Yang, Tao Jiang, Yuecheng Yang, Xiaoyan Zhou, Na Feng, Xilun Cai, Junxue Ni, Hong Shi, Jie Zhang

10.1093/hmg/ddag064
View Publication

SPEN deficiency contributes to the development of orofacial clefts in humans and mice

Bum Jun Kim, Andrés Hernández-García, David L Curtis, Olivia Thompson, Neena Champaigne, Manuela Priolo, Francesca Clementina Radio, Marco Tartaglia, Muge Gucsavas-Calikoglu, Yael Shiloh-Malawsky, Yezmin Perilla-Young, Sarah Josephi-Taylor, Adam M Bournazos, Sandra T Cooper, Koen van Gassen, Marie-José van den Boogaard, Yunus H Ozekin, Emily Anne Bates, Natee Kongchan, Chih-Wei Hsu, Daryl A Scott

10.1093/hmg/ddag063
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Integrated multi-platform genetic profiling reveals dual molecular pathology in 46, XY disorders of sex development through NR5A1 Haploinsufficiency and maternal chromosome 15 UPD

Rui Dong, Chen Liu, Min Gao, Kunkun Yu, Lei Zhang, Xiaochen Wang, Kaisheng Li, Hongying Li, Kaihui Zhang, Guohua Liu

10.1093/hmg/ddag055
View Publication

Frequently asked questions

How long does it take to publish?

Accepted Manuscript is published within one week after acceptance and signing the publishing agreement.

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Is a cover letter required?

A cover letter is required for disclosure of related or similar preprints, dissertations, manuscripts, published papers, and reports. Review Article proposals should be sent to the editorial office before submission. Authors must disclose AI use in cover letters to editors. Authors must confirm database submission status in the cover letter.

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What are the publication costs?

Institutional online-only access: £2290.00 / $4349.00 / €3435.00 per year.

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Research Topics

Mitochondrial Function and Pathology Genetic Neurodegenerative Diseases Genetics and Neurodevelopmental Disorders RNA modifications and cancer RNA Research and Splicing Epigenetics and DNA Methylation Muscle Physiology and Disorders Genetic Associations and Epidemiology Genomic variations and chromosomal abnormalities Neurogenetic and Muscular Disorders Research DNA Repair Mechanisms Genomics and Chromatin Dynamics Genetic Syndromes and Imprinting Diverse Scientific and Economic Studies Retinal Development and Disorders Cellular transport and secretion RNA regulation and disease Human auditory perception and evaluation Parkinson's Disease Mechanisms and Treatments RNA and protein synthesis mechanisms Educational Robotics and Engineering Metabolism and Genetic Disorders Lysosomal Storage Disorders Research Amyotrophic Lateral Sclerosis Research Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities

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