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Advances in Genetics of Human Reproduction

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Genetics and Genomics".

Deadline for manuscript submissions: 30 September 2024 | Viewed by 202

Special Issue Editors

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Guest Editor
Department of Medical Biology and Genetics, Faculty of Medicine, Josip Juraj Strossmayer University, Osijek, Croatia
Interests: reproductive genetics; non-invasive prenatal diagnostics; pregnancy complications

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Guest Editor
Clinical Institute of Genomic Medicine, University Medical Center Ljubljana, SI-1000 Ljubljana, Slovenia
Interests: public health genomics; genomic medicine in health systems; mechanisms of human genetic and complex disorders
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

We are pleased to invite you to submit a manuscript to the Special Issue ‘Advances in Genetics of Human Reproduction’.

Since the completion of the Human Genome Project and the development of high-throughput sequencing techniques, the field of human genetics has undergone significant advancements. On the other hand, during the last 70 years, fertility rates have decreased worldwide by 50% and infertility has become a frequently diagnosed medical condition affecting over 15% of couples worldwide. It has been estimated that approximately 50% of the causes of infertility are related to genetic factors. The main known genetic causes of infertility include chromosomal aberrations, monogenic diseases, and phenotypes with multifactorial inheritance. The physiology of reproduction involves several paracrine, autocrine, and endocrine processes. They are regulated by a number of genes and any discrepancy in these processes can lead to infertility. As a result, various genetic tests have become essential in determining the genetic causes of infertility. Apart from the accurate aetiological diagnosis, genetic testing is applied for the purpose of prenatal and preimplantation genetic screening and diagnosis in order to improve success rates and reduce risks involved in assisted reproduction. Additionally, during the last two decades, we have become aware of the role of various gene–environmental interactions in infertility as well as age-associated epigenetic changes in infertility and reproductive aging.

The aim of this Special Issue is to collect clinical and basic research studies reporting novel insights in the genetics of human reproduction. Original scientific research articles or comprehensive reviews are welcomed, explaining biological mechanisms of human reproduction, such as the roles of different genes and hormones. Articles reporting novel technologies or therapeutic options in the field are welcomed as well.

We look forward to receiving your contribution.

Prof. Dr. Jasenka Wagner
Prof. Dr. Borut Peterlin
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. International Journal of Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. There is an Article Processing Charge (APC) for publication in this open access journal. For details about the APC please see here. 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.


  • genetic
  • human reproduction
  • infertility
  • medically assisted reproduction
  • pregnancy complications
  • recurrent miscarriage

Published Papers

This special issue is now open for submission.
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