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High Impact Articles
High impact papers are those to which special attention is paid by experts in the given field, with a large number of visitors, frequent downloads and higher citation rates. The research must be creative, with high academic standards and have a wide influence, if it is to become a high impact paper. They are ranked by the number of downloads.
Rank Full Article
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Mutation in TNXB gene causes moderate to severe Ehlers-Danlos syndrome  
Carolyn S Kaufman, Merlin G Butler 
World J Med Genet 6(2):17-21. Published online May 27, 2016. doi: 10.5496/wjmg.v6.i2.17
4
Chitosan DNA nanoparticles for oral gene delivery  
Bhavika J Patel, Nithin K Vignesh, Gonzalo Hortelano 
World J Med Genet 6(3):22-33. Published online Aug 27, 2016. doi: 10.5496/wjmg.v6.i3.22
5
Clinical and molecular spectrum of Wiedemann-Steiner syndrome, an emerging member of the chromatinopathy family  
Paolo Fontana, Francesco Fioravanti Passaretti, Marianna Maioli, Giuseppina Cantalupo, Francesca Scarano, Fortunato Lonardo 
World J Med Genet 9(1):1-11. Published online Jun 20, 2020. doi: 10.5496/wjmg.v9.i1.1
6
Gene regulatory networks in atrial fibrillation  
Diego Franco, Estefanía Lozano-Velasco, Amelia Aranega 
World J Med Genet 6(1):1-16. Published online Feb 27, 2016. doi: 10.5496/wjmg.v6.i1.1
7
Pedigree analysis supports a correlation between an AXIN2 variant and polyposis/colorectal cancer  
Amrit Lamba, Parth Parekh, Chris T Dvorak, Jordan J Karlitz 
World J Med Genet 8(1):1-4. Published online Feb 27, 2018. doi: 10.5496/wjmg.v8.i1.1
8
New era of cystic fibrosis: Full mutational analysis and personalized therapy  
Marco Lucarelli 
World J Med Genet 7(1):1-9. Published online Feb 27, 2017. doi: 10.5496/wjmg.v7.i1.1
9
Cell mediated gene therapy: A guide for doctors in the clinic  
Moon Jong Noh, Ogden Copeland, Michael O’Mara, Kwan Hee Lee 
World J Med Genet 5(1):1-13. Published online Feb 27, 2015. doi: 10.5496/wjmg.v5.i1.1
10
Genome variation in the trophoblast cell lifespan: Diploidy, polyteny, depolytenization, genome segregation  
Tatiana G Zybina, Eugenia V Zybina 
World J Med Genet 4(4):77-93. Published online Nov 27, 2014. doi: 10.5496/wjmg.v4.i4.77
11
Oncofertility in adolescent and young adult hereditary cancer: Considerations for genetics professionals  
Gwendolyn P Quinn, Beth N Peshkin, Ivana Sehovic, Meghan Bowman, Christina Tamargo, Susan T Vadaparampil 
World J Med Genet 5(4):52-59. Published online Nov 27, 2015. doi: 10.5496/wjmg.v5.i4.52
12
Genome engineering using the CRISPR/Cas system  
Takuro Horii, Izuho Hatada 
World J Med Genet 4(3):69-76. Published online Aug 27, 2014. doi: 10.5496/wjmg.v4.i3.69
13
Value of predictive bioinformatics in inherited metabolic diseases  
David J Timson 
World J Med Genet 5(3):46-51. Published online Aug 27, 2015. doi: 10.5496/wjmg.v5.i3.46
14
Comparison of next generation sequencing-based and methylated DNA immunoprecipitation-based approaches for fetal aneuploidy non-invasive prenatal testing  
Georgia Christopoulou, Elisavet A Papageorgiou, Philippos C Patsalis, Voula Velissariou 
World J Med Genet 5(2):23-27. Published online May 27, 2015. doi: 10.5496/wjmg.v5.i2.23
15
Role of SOX2 in foregut development in relation to congenital abnormalities  
Kim Schilders, Joshua K Ochieng, Cornelis P van de Ven, Cristina Gontan, Dick Tibboel, Robbert J Rottier 
World J Med Genet 4(4):94-104. Published online Nov 27, 2014. doi: 10.5496/wjmg.v4.i4.94
16
Molecular epidemiology of hepatitis B virus in Asia  
Takako Utsumi, Yoshihiko Yano, Hak Hotta 
World J Med Genet 4(2):19-26. Published online May 27, 2014. doi: 10.5496/wjmg.v4.i2.19
17
An inhibitor of HIF-α subunit expression suppresses hypoxia-induced dedifferentiation of human NSCLC into cancer stem cell-like cells  
Miho Akimoto, Hideko Nagasawa, Hitoshi Hori, Yoshihiro Uto, Yoshio Honma, Keizo Takenaga 
World J Med Genet 3(4):41-54. Published online Nov 27, 2013. doi: 10.5496/wjmg.v3.i4.41
18
Acquisition and dissemination mechanisms of CTXΦ in Vibrio cholerae: New paradigm for dif residents  
Bhabatosh Das, G Balakrish Nair, Rupak K Bhadra 
World J Med Genet 4(2):27-33. Published online May 27, 2014. doi: 10.5496/wjmg.v4.i2.27
19
Structure-function relationship in viral RNA genomes: The case of hepatitis C virus  
Cristina Romero-López, Alfredo Berzal-Herranz 
World J Med Genet 4(2):6-18. Published online May 27, 2014. doi: 10.5496/wjmg.v4.i2.6
20
Regulation of the cell fate by DNA damage and hypoxia  
Ramkumar Rajendran, Marija Krstic-Demonacos, Constantinos Demonacos 
World J Med Genet 3(4):34-40. Published online Nov 27, 2013. doi: 10.5496/wjmg.v3.i4.34
21
Preimplantation HLA typing: Practical tool for stem cell transplantation treatment of congenital disorders  
Anver Kuliev, Svetlana Rechitsky 
World J Med Genet 4(4):105-109. Published online Nov 27, 2014. doi: 10.5496/wjmg.v4.i4.105
22
Clinical applications of high-throughput genetic diagnosis in inherited retinal dystrophies: Present challenges and future directions  
Gemma Marfany, Roser Gonzàlez-Duarte 
World J Med Genet 5(2):14-22. Published online May 27, 2015. doi: 10.5496/wjmg.v5.i2.14
23
Molecular genetics of gastric adenocarcinoma in clinical practice  
Margaret Cho, Ogechukwu Eze, Ruliang Xu 
World J Med Genet 4(3):58-68. Published online Aug 27, 2014. doi: 10.5496/wjmg.v4.i3.58
24
Osteopathia striata with cranial sclerosis, Wilms’ tumor and the WTX gene  
Elisa Cattaneo, Sara Ciceri, Natascia Liberati, Paolo Radice, Luigi Tarani, Angelo Selicorni, Daniela Perotti 
World J Med Genet 4(2):34-38. Published online May 27, 2014. doi: 10.5496/wjmg.v4.i2.34
25
Fiber-fluorescence in situ hybridization analyses as a diagnostic application for orientation of microduplications  
Toshiyuki Yamamoto, Shino Shimada, Keiko Shimojima 
World J Med Genet 3(2):5-8. Published online May 27, 2013. doi: 10.5496/wjmg.v3.i2.5
26
Genetic alterations in head and neck squamous cell carcinoma: The next-gen sequencing era  
Thien Khanh Nguyen, N Gopalakrishna Iyer 
World J Med Genet 3(4):22-33. Published online Nov 27, 2013. doi: 10.5496/wjmg.v3.i4.22
27
Prevalence of fragile X syndrome in males and females in Indonesia  
Farmaditya EP Mundhofir, Tri I Winarni, Willy Nillesen, Bregje WM van Bon, Marga Schepens, Martina Ruiterkamp-Versteeg, Ben CJ Hamel, Helger G Yntema, Sultana MH Faradz 
World J Med Genet 2(3):15-22. Published online Jun 27, 2012. doi: 10.5496/wjmg.v2.i3.15
28
Evolving ethical issues in third party reproduction: Local and global considerations  
Ilana B Ressler, Ami S Jaeger, Steven R Lindheim 
World J Med Genet 2(1):1-8. Published online Feb 27, 2012. doi: 10.5496/wjmg.v2.i1.1
29
Genetic counseling in post-genomic era: Don’t pretend to know the meaning of a gene mutation if you don’t know  
Liting Song 
World J Med Genet 4(1):1-5. Published online Feb 27, 2014. doi: 10.5496/wjmg.v4.i1.1
30
Genetic interactions in translational research on cancer  
Bingliang Fang 
World J Med Genet 1(1):14-22. Published online Dec 27, 2011. doi: 10.5496/wjmg.v1.i1.14
31
Overlap of genetic influences in phenotypes classically categorized as psychiatric vs medical disorders  
Richard C McEachin, James D Cavalcoli 
World J Med Genet 1(1):4-10. Published online Dec 27, 2011. doi: 10.5496/wjmg.v1.i1.4
32
Epigenetics in the etiology and management of infertility  
Tajudeen Olanrewaju Yahaya, Danlami M Bashar, Esther O Oladele, Ja'afar Umar, Daniel Anyebe, Abdulrazaq Izuafa 
World J Med Genet 10(2):7-21. Published online Oct 27, 2022. doi: 10.5496/wjmg.v10.i2.7
33
Genetic counselling in post-genomic era-to be or not to be  
Bukvic Nenad, Margaglione Maurizio 
World J Med Genet 3(3):9-13. Published online Aug 27, 2013. doi: 10.5496/wjmg.v3.i3.9
34
Earlier onset and multiple primaries in familial as opposed to sporadic esophageal cancer  
Xiao-Duo Wen, Deng-Gui Wen, Yi Yang, Bao-En Shan, Shi-Jie Wang 
World J Med Genet 4(2):39-45. Published online May 27, 2014. doi: 10.5496/wjmg.v4.i2.39
35
Genomic microarrays in prenatal diagnosis  
Fortunato Lonardo 
World J Med Genet 3(4):14-21. Published online Nov 27, 2013. doi: 10.5496/wjmg.v3.i4.14
36
Malignant pheochromocytoma in neurofibromatosis; mutation screening of RET proto-oncogene, VHL and SDH gene  
Shirin Hasani-Ranjbar, Mahsa M Amoli, Maasumeh Noorani, Mohsen Ghadami 
World J Med Genet 3(1):1-4. Published online Feb 27, 2013. doi: 10.5496/wjmg.v3.i1.1
37
Genome-wide association studies: Where we are heading?  
Xiaoyi Gao, Todd L Edwards 
World J Med Genet 1(1):23-35. Published online Dec 27, 2011. doi: 10.5496/wjmg.v1.i1.23
38
Research progress in the cell origin of basal cell carcinoma  
Dongsheng Gu, Jingwu Xie 
World J Med Genet 1(1):11-13. Published online Dec 27, 2011. doi: 10.5496/wjmg.v1.i1.11
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Role of IL-2/IL-2 receptor in pathogenesis of autoimmune disorders: Genetic and therapeutic aspects  
Sana Rafaqat, Saira Rafaqat 
World J Med Genet 11(3):28-38. Published online Jul 20, 2023. doi: 10.5496/wjmg.v11.i3.28
41
What is the purpose of launching the World Journal of Medical Genetics?  
Hans van Bokhoven 
World J Med Genet 1(1):1-3. Published online Dec 27, 2011. doi: 10.5496/wjmg.v1.i1.1
42
Preimplantation testing: Transition from genetic to genomic diagnosis  
Eduardo C Lau 
World J Med Genet 2(2):9-14. Published online Apr 27, 2012. doi: 10.5496/wjmg.v2.i2.9
43
Genome-wide associations, polygenic risk, and Mendelian randomization reveal limited interactions between John Henryism and cynicism  
Richard R Chapleau 
World J Med Genet 11(2):8-20. Published online Jun 2, 2023. doi: 10.5496/wjmg.v11.i2.8
44
Phenotypic and cytogenetic features of an Iranian child with tetrasomy 18p syndrome: A case report  
Sara Esmaeili, Cory J Xian 
World J Med Genet 11(1):1-7. Published online Mar 10, 2023. doi: 10.5496/wjmg.v11.i1.1
45
Mosaicism of a novel variant in the ANKRD11 gene in a child with a mild KBG phenotype: A case report  
Roberto Franceschi, Francesca Rivieri, Antonio Novelli, Daniele Ferretti, Adriano Anesi, Massimo Soffiati, Giulia Porretti, Evelina Maines, Mafalda Mucciolo, Giorgio Radetti 
World J Med Genet 11(2):21-27. Published online Jun 2, 2023. doi: 10.5496/wjmg.v11.i2.21
46
Clinical utilities and end-user experience of pharmacogenomics: 39 mo of clinical implementation experience in an Australian hospital setting  
Rosalind Moxham, Andrew Tjokrowidjaja, Sophie Devery, Renee Smyth, Alison McLean, Darren M Roberts, Kathy H C Wu 
World J Med Genet 11(4):39-50. Published online Dec 20, 2023. doi: 10.5496/wjmg.v11.i4.39
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Circular RNA: The evolving potential in the disease world  
Aarti Sharma, Cherry Bansal, Kiran Lata Sharma, Ashok Kumar 
World J Med Genet 12(1):93011. Published online Sep 20, 2024. doi: 10.5496/wjmg.v12.i1.93011