Advances in Genetics of Skeletal Development
A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Human Genomics and Genetic Diseases".
Deadline for manuscript submissions: 20 December 2025
Special Issue Editors
2. Medical Genetics Department, ERN BOND and ERN ITHACA, ULS Santa Maria, Lisbon, Portugal
Interests: skeletal dysplasias; clinical genetics; genetics
Interests: bone biology; mouse genetics; polycystins; TAZ; Runx2; FGF23
2. St. Catherine Hospital, Universities of Split, Osijek and Rijeka, 49210 Zabok, Croatia
Interests: personalised medicine; stem cells; pharmacogenetics; paediatrics; DNA analysis; human diseases; bone diseases; forensic genetics; population genetics
Special Issues, Collections and Topics in MDPI journals
Special Issue Information
Dear Colleagues,
Skeletal development is a highly regulated process that involves a complex interplay of genetic, molecular, and environmental factors. Recent advances in genomic technologies and genetic analysis have significantly enhanced our understanding of the molecular mechanisms underlying skeletal formation and the aetiology of skeletal dysplasias and other bone-related disorders. This Special Issue, titled “Advances in Genetics of Skeletal Development”, aims to compile original research and comprehensive reviews that explore the genetic basis of skeletal development, identify novel gene variants, and elucidate pathophysiological mechanisms of skeletal diseases.
We welcome contributions that focus on a broad range of topics, including but not limited to, the following: rare skeletal dysplasias, genotype–phenotype correlations, functional studies of disease-causing mutations, and the use of next-generation sequencing in clinical diagnostics. Studies on gene regulation, epigenetic influences, and gene–environment interactions in bone development are also encouraged.
Our goal is to highlight the translational potential of genetic discoveries to improve diagnosis, patient management, and therapeutic strategies for skeletal disorders. We invite researchers and clinicians working in the fields of human genomics, clinical genetics, developmental biology, and orthopaedics to contribute to this Special Issue.
Dr. André M Travessa
Dr. Zhousheng Xiao
Prof. Dr. Dragan Primorac
Guest Editors
Manuscript Submission Information
Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.
Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Genes is an international peer-reviewed open access monthly journal published by MDPI.
Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.
Keywords
- skeletal development
- skeletal dysplasias
- clinical genetics
- human genomics
Benefits of Publishing in a Special Issue
- Ease of navigation: Grouping papers by topic helps scholars navigate broad scope journals more efficiently.
- Greater discoverability: Special Issues support the reach and impact of scientific research. Articles in Special Issues are more discoverable and cited more frequently.
- Expansion of research network: Special Issues facilitate connections among authors, fostering scientific collaborations.
- External promotion: Articles in Special Issues are often promoted through the journal's social media, increasing their visibility.
- Reprint: MDPI Books provides the opportunity to republish successful Special Issues in book format, both online and in print.
Further information on MDPI's Special Issue policies can be found here.
