Search for Articles:
Title / Keyword
Author / Affiliation / Email
Journal
Article Type
 
 
Advanced Search
 
Section
Special Issue
Volume
Issue
Number
Page
 
5.5
2.8
Journals
Genes
Announcements
share announcement

Announcements

10 April 2026
Genes | Highly Cited Papers in 2024–2025 in the “Human Genomics and Genetic Diseases” Section


The Section “Human Genomics and Genetic Diseases” of Genes (ISSN: 2073-4425) covers all aspects of human genetics, including molecular mechanisms, disease basis, and the diagnosis and treatment of genetic disorders and cancers.

All papers are in an open-access format, granting our readers free and unlimited access to the full text of all the articles published here. We welcome you to read our highly cited papers published in 2024 and 2025:

1. “The Genetics of Tuberous Sclerosis Complex and Related mTORopathies: Current Understanding and Future Directions”
by Alice Man, Matteo Di Scipio, Shan Grewal, Yujin Suk, Elisabetta Trinari, Resham Ejaz and Robyn Whitney
Genes 2024, 15(3), 332; https://doi.org/10.3390/genes15030332
Available online: https://www.mdpi.com/2073-4425/15/3/332

2. “Mitochondrial DNA: Inherent Complexities Relevant to Genetic Analyses”
by Tomas Ferreira and Santiago Rodriguez
Genes 2024, 15(5), 617; https://doi.org/10.3390/genes15050617
Available online: https://www.mdpi.com/2073-4425/15/5/617

3. “Genetic Advancements in Infantile Epileptic Spasms Syndrome and Opportunities for Precision Medicine”
by Hannah E. Snyder, Puneet Jain, Rajesh RamachandranNair, Kevin C. Jones and Robyn Whitney
Genes 2024, 15(3), 266; https://doi.org/10.3390/genes15030266
Available online: https://www.mdpi.com/2073-4425/15/3/266

4. “Preparing for Patient-Customized N-of-1 Antisense Oligonucleotide Therapy to Treat Rare Diseases”
by Harry Wilton-Clark, Eric Yan and Toshifumi Yokota
Genes 2024, 15(7), 821; https://doi.org/10.3390/genes15070821
Available online: https://www.mdpi.com/2073-4425/15/7/821

5. “Through the Cat-Map Gateway: A Brief History of Cataract Genetics”
by Alan Shiels
Genes 2024, 15(6), 785; https://doi.org/10.3390/genes15060785
Available online: https://www.mdpi.com/2073-4425/15/6/785

6. “Colorectal Cancer: Genetic Underpinning and Molecular Therapeutics for Precision Medicine”
by Gideon T. Dosunmu and Ardaman Shergill
Genes 2024, 15(5), 538; https://doi.org/10.3390/genes15050538
Available online: https://www.mdpi.com/2073-4425/15/5/538

7. “Expansion of the Genotypic and Phenotypic Spectrum of ASH1L-Related Syndromic Neurodevelopmental Disorder”
by Ineke Cordova, Alyssa Blesson, Juliann M. Savatt, Abigail Sveden, Sonal Mahida, Heather Hazlett, Erin Rooney Riggs and Maya Chopra
Genes 2024, 15(4), 423; https://doi.org/10.3390/genes15040423
Available online: https://www.mdpi.com/2073-4425/15/4/423

8. “Biallelic NDUFA4 Deletion Causes Mitochondrial Complex IV Deficiency in a Patient with Leigh Syndrome”
by Doriana Misceo, Petter Strømme, Fatemeh Bitarafan, Maninder Singh Chawla, Ying Sheng, Sandra Monica Bach de Courtade, Lars Eide and Eirik Frengen
Genes 2024, 15(4), 500; https://doi.org/10.3390/genes15040500
Available online: https://www.mdpi.com/2073-4425/15/4/500

9. “Characteristics and Yield of Modern Approaches for the Diagnosis of Genetic Causes of Kidney Stone Disease”
by Andrea Spasiano, Mirko Treccani, Elisa De Tomi, Giovanni Malerba, Giovanni Gambaro and Pietro Manuel Ferraro
Genes 2024, 15(11), 1470; https://doi.org/10.3390/genes15111470
Available online: https://www.mdpi.com/2073-4425/15/11/1470

10. “PLEKHG1: New Potential Candidate Gene for Periventricular White Matter Abnormalities”
by Francesco Calì, Mirella Vinci, Simone Treccarichi, Carla Papa, Angelo Gloria, Antonino Musumeci, Concetta Federico, Girolamo Aurelio Vitello, Antonio Gennaro Nicotera, Gabriella Di Rosa et al.
Genes 2024, 15(8), 1096; https://doi.org/10.3390/genes15081096
Available online: https://www.mdpi.com/2073-4425/15/8/1096

If you are an active researcher in this field and are interested in publishing innovative research, please do not hesitate to contact the Managing Editor, Ms. Jessie Guo (jessie.guo@mdpi.com).

More News...
Back to TopTop