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  1. Multiple genome-wide and candidate-gene association studies have been conducted to search for common risk variants of breast cancer. Recent large meta-analyses and consolidating evidence have highlighted the r...

    Authors: Fahimeh Afzaljavan, Elham Vahednia, Matineh Barati Bagherabad, Fatemeh Vakili, Atefeh Moezzi, Azar Hosseini, Fatemeh Homaei Shandiz, Mohammad Mahdi Kooshyar, Mohammadreza Nassiri and Alireza Pasdar
    Citation: BMC Medical Genomics 2023 16:72
  2. Oral squamous cell carcinoma (OSCC) is one of the most common malignancy in the oral cancer threatening human health and the survival rate of OSCC has not been effectively improved in recent decades, so more e...

    Authors: Yuxing Wei, Xujie Cheng, Limei Deng, Hao Dong, Huiping Wei, Cheng Xie, Yangjuan Tuo, Guangyu Li, Dahai Yu and Yong Cao
    Citation: BMC Medical Genomics 2023 16:70
  3. Human endogenous retroviruses (HERV) are repetitive sequence elements and a substantial part of the human genome. Their role in development has been well documented and there is now mounting evidence that dysr...

    Authors: Martin V. Hamann, Maisha Adiba and Ulrike C. Lange
    Citation: BMC Medical Genomics 2023 16:68
  4. Understanding public attitudes to genomic data sharing is widely seen as key in shaping effective governance. However, empirical research in this area often fails to capture the contextual nuances of diverse s...

    Authors: Vanessa Warren, Christine Critchley, Rebekah McWhirter, Jarrod Walshe and Dianne Nicol
    Citation: BMC Medical Genomics 2023 15(Suppl 3):275

    This article is part of a Supplement: Volume 15 Supplement 3

  5. There are currently no clear conclusions about whether major depression (MD) and bipolar disorder (BD) increase the risk of erectile dysfunction (ED). In our study, we used a Mendelian randomization (MR) analy...

    Authors: Wei-Kang Chen, Tao Zhou, Dong-Dong Yu, Jing-Ping Li, Jing-Gen Wu, Le-Jun Li, Zhong-Yan Liang and Feng-Bin Zhang
    Citation: BMC Medical Genomics 2023 16:66
  6. Unbalanced translocations can cause developmental delay (DD), intellectual disability (ID), growth problems, dysmorphic features, and congenital anomalies. They may arise de novo or may be inherited from a par...

    Authors: Judith Fan, T. Niroshini Senaratne, Jason Y. Liu, Michelle Bina, Julian A. Martinez-Agosto, Fabiola Quintero-Rivera and Jessica J. Wang
    Citation: BMC Medical Genomics 2023 16:65
  7. Detection of appropriate receptor proteins and drug agents are equally important in the case of drug discovery and development for any disease. In this study, an attempt was made to explore colorectal cancer (...

    Authors: Md Abu Horaira, Md. Ariful Islam, Md. Kaderi Kibria, Md. Jahangir Alam, Syed Rashel Kabir and Md. Nurul Haque Mollah
    Citation: BMC Medical Genomics 2023 16:64
  8. IgA nephropathy (IgAN) has become the leading cause of end-stage renal disease in young adults. Nevertheless, the current diagnosis exclusively relies on invasive renal biopsy, and specific treatment is defici...

    Authors: Xiaohui Li, Mengru Zeng, Jialu Liu, Shumin Zhang, Yifei Liu, Yuee Zhao, Cong Wei, Kexin Yang, Ying Huang, Lei Zhang and Li Xiao
    Citation: BMC Medical Genomics 2023 16:63
  9. Adult T-cell Leukemia/Lymphoma (ATLL) is a rapidly progressing type of T-cell non-Hodgkin lymphoma that is developed after the infection by human T-cell leukemia virus type 1 (HTLV-1). It could be categorized ...

    Authors: Mohadeseh Zarei Ghobadi, Elaheh Afsaneh, Rahman Emamzadeh and Mona Soroush
    Citation: BMC Medical Genomics 2023 16:62
  10. Solute Carrier Family 31 Member 1 (SLC31A1) has recently been identified as a cuproptosis-regulatory gene. Recent studies have indicated that SLC31A1 may play a role in colorectal and lung cancer tumorigenesis. H...

    Authors: Fan-Sheng Kong, Chun-Yan Ren, Ruofan Jia, Yuan Zhou, Jian-Huan Chen and Yaping Ma
    Citation: BMC Medical Genomics 2023 16:61
  11. We aimed to build a novel model with golgi apparatus related genes (GaGs) signature and relevant clinical parameters for predicting progression-free interval (PFI) after surgery for papillary thyroid carcinoma...

    Authors: Rui Liu, Zhen Cao, Mengwei Wu, Xiaobin Li, Peizhi Fan and Ziwen Liu
    Citation: BMC Medical Genomics 2023 16:60
  12. The risk of severe condition caused by Corona Virus Disease 2019 (COVID-19) increases with age. However, the underlying mechanisms have not been clearly understood. The dataset GSE157103 was used to perform we...

    Authors: Yao Lin, Yueqi Li, Hubin Chen, Jun Meng, Jingyi Li, Jiemei Chu, Ruili Zheng, Hailong Wang, Peijiang Pan, Jinming Su, Junjun Jiang, Li Ye, Hao Liang and Sanqi An
    Citation: BMC Medical Genomics 2023 16:59
  13. Cuproptosis, a novel form of programmed cell death, plays an essential role in various cancers. However, studies of the function of cuproptosis lncRNAs (CRLs) in colorectal cancer (CRC) remain limited. Thus, t...

    Authors: Lin Pang, Qingqing Wang, Lingxiao Wang, Zhen Hu, Chong Yang, Yiqun Li, Zhenqi Wang and Yaoping Li
    Citation: BMC Medical Genomics 2023 16:58
  14. Inborn errors of metabolism (IEM) can lead to severe motor and neurological developmental disorders and even disability and death in children due to untimely treatment. In this study, we used tandem mass spect...

    Authors: Xiao He, Juan Kuang, Jiahong Lai, Jingxiong Huang, Yijin Wang, Guofeng Lan, Yingjun Xie and Xuekai Shi
    Citation: BMC Medical Genomics 2023 16:57
  15. Alzheimer’s disease (AD) is a progressive, neurodegenerative disorder with insidious onset. Some scholars believe that there is a close relationship between pyroptosis and AD. However, studies with evidence su...

    Authors: Pengcheng Xia, Huijun Ma, Jing Chen, Yingchao Liu, Xiaolin Cui, Cuicui Wang, Shuai Zong, Le Wang, Yun Liu and Zhiming Lu
    Citation: BMC Medical Genomics 2023 16:56
  16. Increasing evidence has indicated that ferroptosis engages in the progression of Parkinson’s disease (PD). This study aimed to explore the role of ferroptosis-related genes (FRGs), immune infiltration and immu...

    Authors: Na Xing, Ziye Dong, Qiaoli Wu, Yufeng Zhang, Pengcheng Kan, Yuan Han, Xiuli Cheng, Yaru Wang and Biao Zhang
    Citation: BMC Medical Genomics 2023 16:55
  17. Alzheimer’s disease (AD) is the most prevalent cause of dementia and is primarily associated with memory impairment and cognitive decline, but the etiology of AD has not been elucidated. In recent years, evide...

    Authors: Chenming Liu, Sutong Xu, Qiulu Liu, Huazhen Chai, Yuping Luo and Siguang Li
    Citation: BMC Medical Genomics 2023 16:53
  18. Ferroptosis plays an important role in the development of acute-on-chronic liver failure (ACLF). The present project aimed to identify and validate the potential ferroptosis-related genes in ACLF by bioinforma...

    Authors: Meixia Kuang, Longhui Cai, Jing Zhao, Liqiao Huang, Yichun Ji, Bingyao Lv and Weihong Kuang
    Citation: BMC Medical Genomics 2023 16:52
  19. Stroke attributable to atrial fibrillation (AF related stroke, AFST) accounts for 13 ~ 26% of ischemic stroke. It has been found that AFST patients have a higher risk of disability and mortality than those wit...

    Authors: Rui-bin Li, Xiao-hong Yang, Ji-dong Zhang and Wei Cui
    Citation: BMC Medical Genomics 2023 16:51
  20. Circular RNAs (circRNAs) are recently identified as a class of non-coding RNAs that participate in the incidence of acute myocardial infarction (AMI). However, circRNAs expression pattern in obstructive sleep ...

    Authors: Jie-feng Huang, Ning-Fang Lian, Guo-Fu Lin, Han-Sheng Xie, Bi-Ying Wang, Gong-Ping Chen and Qi-Chang Lin
    Citation: BMC Medical Genomics 2023 16:50
  21. Our understanding of the molecular underpinnings of chronic traumatic encephalopathy (CTE) and its associated pathology in post-mortem brain is incomplete. Factors including years of play and genetic risk vari...

    Authors: Adam Labadorf, Filisia Agus, Nurgul Aytan, Jonathan Cherry, Jesse Mez, Ann McKee and Thor D. Stein
    Citation: BMC Medical Genomics 2023 16:49
  22. This study aimed to investigate the pooled diagnostic ability of circular RNA (circRNA) molecules for diabetes mellitus.

    Authors: Hojat Dehghanbanadaki, Pooria Asili, Abdolkarim Haji Ghadery, Maryam Mirahmad, Ali Zare Dehnavi, Amirhossein Parsaei, Hamid Reza Baradaran, Mobin Azami, Gustavo Jose Justo da Silva, Reza Parvan and Yousef Moradi
    Citation: BMC Medical Genomics 2023 16:48
  23. Spinal muscular atrophy, lower extremity predominant (SMALED) is a type of non-5q spinal muscular atrophy characterised by weakness and atrophy of lower limb muscles without sensory abnormalities. SMALED1 can ...

    Authors: Yazhao Mei, Yunyi Jiang, Zhenlin Zhang and Hao Zhang
    Citation: BMC Medical Genomics 2023 16:47
  24. We aimed to analyze the genotype-phenotype correlations of STXBP1 pathogenic variants, prognostic factors and the treatment choices in a case-series of STXBP1-related disorders from China.

    Authors: Miriam Kessi, Baiyu Chen, Li-Dan Shan, Ying Wang, Lifen Yang, Fei Yin, Fang He, Jing Peng and Guoli Wang
    Citation: BMC Medical Genomics 2023 16:46
  25. Ovarian hyperstimulation syndrome (OHSS) is a complication of controlled ovarian hyperstimulation (COH). It is a potentially life-threatening condition that usually occurs either after human chorionic gonadotr...

    Authors: Jessica Daolio, Samantha Sperduti, Livio Casarini, Angela Falbo, Caterina Materazzo, Lorenzo Aguzzoli and Maria Teresa Villani
    Citation: BMC Medical Genomics 2023 16:45
  26. Gastric inhibitory polypeptide receptor (GIPR) encodes a G-protein coupled receptor for gastric inhibitory polypeptide (GIP), which was demonstrated to stimulate insulin secretion. Relation of GIPR gene variat...

    Authors: Saiedeh Erfanian, Hamed Mir, Amir Abdoli and Abazar Roustazadeh
    Citation: BMC Medical Genomics 2023 16:44
  27. X-linked methyl-CpG-binding protein 2 (MECP2) duplication syndrome is prevalent in approximately 1% of X-linked intellectual disabilities. Accumulating evidence has suggested that MECP2 is the causative gene of M...

    Authors: Keiko Akahoshi, Eiji Nakagawa, Yu-ichi Goto and Ken Inoue
    Citation: BMC Medical Genomics 2023 16:43
  28. Summarised in polygenic risk scores (PRS), the effect of common, low penetrant genetic variants associated with colorectal cancer (CRC), can be used for risk stratification.

    Authors: Emadeldin Hassanin, Isabel Spier, Dheeraj R. Bobbili, Rana Aldisi, Hannah Klinkhammer, Friederike David, Nuria Dueñas, Robert Hüneburg, Claudia Perne, Joan Brunet, Gabriel Capella, Markus M. Nöthen, Andreas J. Forstner, Andreas Mayr, Peter Krawitz, Patrick May…
    Citation: BMC Medical Genomics 2023 16:42
  29. Previous observational studies have shown an association between asthma, atopic dermatitis (AD) and rheumatoid arthritis (RA). However, the bidirectional cause-effect chain between asthma and AD and RA has not...

    Authors: Chuiji Chen, Le Su, Wenhao Duan, Yansen Zheng, Dianzhong Zhang and Yucai Wang
    Citation: BMC Medical Genomics 2023 16:41
  30. A total of 5,200 pregnant women in Zhaoqing city, Guangdong Province, were screened to identify spinal muscular atrophy (SMA) mutation carriers to guide the prevention of SMA and prevent the birth of children ...

    Authors: Zhiwei Huang, Qingchan Yang, Jianxiang Ye, Jianxing Huang, Jin Lin, Jing Chen, Zizhao Liang and Zijie Cao
    Citation: BMC Medical Genomics 2023 16:39
  31. The use of in silico pathogenicity predictions as evidence when interpreting genetic variants is widely accepted as part of standard variant classification guidelines. Although numerous algorithms have been de...

    Authors: S. Cannon, M. Williams, A. C. Gunning and C. F. Wright
    Citation: BMC Medical Genomics 2023 16:36
  32. Oral cancer (OC) is a debilitating disease that can affect the quality of life of these patients adversely. Oral premalignant lesion patients have a high risk of developing OC. Therefore, identifying robust su...

    Authors: Leili Tapak, Mohammad Kazem Ghasemi, Saeid Afshar, Hossein Mahjub, Alireza Soltanian and Hassan Khotanlou
    Citation: BMC Medical Genomics 2023 16:35
  33. There is growing evidence that the SNX family is critical for clinical prognosis, immune infiltration and drug sensitivity in many types of tumors. The relationships between the SNX29 gene and clinical prognos...

    Authors: Chengfei Xu, Fanghan Li, Zilin Liu, Chuanjing Yan and Jiangwei Xiao
    Citation: BMC Medical Genomics 2023 16:34
  34. SALL4, a member of the SALL genes family, encodes a zinc-finger transcriptional factor that either activates or represses gene transcription depending on cell type during embryonic development. SALL4 mutations c...

    Authors: Mobarakeh Ajam-Hosseini, Farshid Parvini and Abdolhamid Angaji
    Citation: BMC Medical Genomics 2023 16:33
  35. The oral and colonic microbiota are distinct in healthy individuals. However, this distinction is diminished in common diseases such as colon cancer and inflammatory bowel disease, suggesting a potential patho...

    Authors: Armin Rashidi, Motoko Koyama, Neelendu Dey, Jeffrey S. McLean and Geoffrey R. Hill
    Citation: BMC Medical Genomics 2023 16:31
  36. Osteosarcoma has been the most common primary bone malignant tumor in children and adolescents. Despite the considerable improvement in the understanding of genetic events attributing to the rapid development ...

    Authors: Ziyue Wang, Zixin Zeng, Feng Gao, Ziwei Gui, Juan Du, Ningning Shen, Yangwei Shang, Zhiqing Yang, Lifang Shang, Rong Wei, Wenxia Ma and Chen Wang
    Citation: BMC Medical Genomics 2023 16:30
  37. PHGDH (Phosphoglycerate Dehydrogenase) is the first branch enzyme in the serine biosynthetic pathway and plays a vital role in several cancers. However, little is known about the clinical significance of PHGDH...

    Authors: He Zhang, Weimin Kong, Xiaoling Zhao, Yunkai Xie, Dan Luo and Shuning Chen
    Citation: BMC Medical Genomics 2023 16:29
  38. This study aimed to investigate the potential prognostic value of DNA damage repair genes (DDRGs) in esophageal squamous cell carcinoma (ESCC) and their relationship with immune-related characteristics.

    Authors: Dong Guo, Xueyuan Zhang, Xingyu Du, Weinan Yao, Wenbin Shen and Shuchai Zhu
    Citation: BMC Medical Genomics 2023 16:27
  39. The study of gene essentiality, which measures the importance of a gene for cell division and survival, is used for the identification of cancer drug targets and understanding of tissue-specific manifestation ...

    Authors: Jonathan Rosenski, Sagiv Shifman and Tommy Kaplan
    Citation: BMC Medical Genomics 2023 16:26
  40. Rubinstein–Taybi syndrome (RSTS) is an extremely rare autosomal dominant inheritable disorder caused by CREBBP and EP300 mutations, while atypical RSTS harbouring variant from the same genes but not obvious resem...

    Authors: Zhouxian Bai, Gaopan Li and Xiangdong Kong
    Citation: BMC Medical Genomics 2023 16:24

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