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  1. N7 methylguanosine (m7G) has a crucial role the development of hepatocellular carcinoma (HCC). This study aimed to investigate the impact of the m7G methylation core genes (METTL1 and WDR4) and associated RNA ...

    Authors: Rui Li, Xincheng Liu, Kaiyuan Deng and Xin Wang
    Citation: BMC Medical Genomics 2023 16:179
  2. Hepatocellular carcinoma (HCC) is one of the most lethal diseases due to its high faculty of invasiveness and metastasis. Activity-dependent neuroprotective protein (ADNP) has been regarded as an oncogene in b...

    Authors: Xuan Wang, Honghua Peng, Ganghua Zhang, Zeyuan Li, Zhangyan Du, Bin Peng and Peiguo Cao
    Citation: BMC Medical Genomics 2023 16:178
  3. The miR-208 gene is one of the microRNAs now under active studies, and has been found to play significant roles in an array of cardiovascular diseases. Nevertheless, until now, no studies have examined the rel...

    Authors: Chao Liu, Yan-Ping Luo, Jie Chen, Yin-Hua Weng, Yan Lan and Hong-Bo Liu
    Citation: BMC Medical Genomics 2023 16:176
  4. As a chronic mountain sickness(CMS) with the highest incidence and the greatest harm, the pathogenesis of high altitude polycythemia (HAPC) is still not fully understood.

    Authors: Siwei Feng, Gang Wei, Xuelin Yang, Zhiying Zhang, Jingfeng Qu, Donglan Wang, Tian Zhou, Ting Ni, Lijun Liu and Longli Kang
    Citation: BMC Medical Genomics 2023 16:174
  5. Lung cancer mortality is higher than other forms of cancer. Genetic tendencies in cancer patients have long been known. Given the link between A1ATD and numerous lung disorders, it is worth investigating if th...

    Authors: Aliaa N. El-Dawa, Afaf M. ElSaid, Sherif Refaat and Omali Y. El-khawaga
    Citation: BMC Medical Genomics 2023 16:173
  6. Chronic myeloid leukaemia (CML) is one of the most well characterised human malignancies. Most patients have a cytogenetically visible translocation between chromosomes 9 and 22 which generates the pathognomonic

    Authors: Philippa C. May, Alistair G. Reid, Mark E. Robinson, Jamshid S. Khorashad, Dragana Milojkovic, Simone Claudiani, Fenella Willis, Jane F. Apperley and Andrew J. Innes
    Citation: BMC Medical Genomics 2023 16:172
  7. Progressive familial intrahepatic cholestasis (PFIC) is a group of rapidly progressive autosomal recessive disorders characterized by intrahepatic cholestasis. PFIC-3 is caused by mutations in the ATP-binding ...

    Authors: Fei Qiao, Feng Ren, Weiting Lu, Haoran Yang, Guiling Mo, Shuangshuang Wang, Lina Liu and Xiangtao Xu
    Citation: BMC Medical Genomics 2023 16:171
  8. Despite the advancements in multiagent chemotherapy in the past years, up to 10% of Hodgkin’s Lymphoma (HL) cases are refractory to treatment and, after remission, patients experience an elevated risk of death...

    Authors: André Patrício, Rafael S. Costa and Rui Henriques
    Citation: BMC Medical Genomics 2023 16(Suppl 1):170

    This article is part of a Supplement: Volume 16 Supplement 1

  9. NF-κB signaling pathway participate closely in regulating inflammation and immune response in many cancers. Long non-coding RNAs (lncRNAs) associated with NF-κB signaling have not been characterized in cervica...

    Authors: Xue Feng, Ru Shan and Xiaomeng Hu
    Citation: BMC Medical Genomics 2023 16:169
  10. Cancer researchers often seek user-friendly interactive tools for validation, exploration, analysis, and visualization of molecular profiles in cancer patient samples. To aid researchers working on the both lo...

    Authors: Xiang Deng, Shaoli Das, Harpreet Kaur, Evan Wilson, Kevin Camphausen and Uma Shankavaram
    Citation: BMC Medical Genomics 2023 16:168
  11. PTEN hamartoma syndrome (PHTS) is an autosomal dominant disorder characterized by pathogenic variants in the tumor suppressor gene phosphatase and tensin homolog (PTEN). It is associated with an increased risk of...

    Authors: Mathias Cavaillé, Delphine Crampon, Viorel Achim, Virginie Bubien, Nancy Uhrhammer, Maud Privat, Flora Ponelle-Chachuat, Mathilde Gay-Bellile, Mathis Lepage, Zangbéwendé Guy Ouedraogo, Natalie Jones, Yannick Bidet, Nicolas Sevenet and Yves-Jean Bignon
    Citation: BMC Medical Genomics 2023 16:166
  12. Acute respiratory distress syndrome (ARDS) is characterized by non-cardiogenic pulmonary edema caused by inflammation, which can lead to serious respiratory complications. Due to the high mortality of ARDS cau...

    Authors: Duan Zhu, Mi Zhou, Houli Zhang, Liang Gong, Jianlin Hu, Hu Luo and Xiangdong Zhou
    Citation: BMC Medical Genomics 2023 16:165
  13. We aimed to assess the performance of European-derived polygenic risk scores (PRSs) for common metabolic diseases such as coronary artery disease (CAD), obesity, and type 2 diabetes (T2D) in the South Asian (S...

    Authors: Emadeldin Hassanin, Carlo Maj, Hannah Klinkhammer, Peter Krawitz, Patrick May and Dheeraj Reddy Bobbili
    Citation: BMC Medical Genomics 2023 16:164
  14. Osteoarthritis (OA) is chronic arthritis characterized by articular cartilage degradation. However, a comprehensive regulatory network for OA-related microRNAs and DNA methylation modifications has yet to be e...

    Authors: Lingpeng Jin, Jun Ma, Zhen Chen, Fei Wang, Zhikuan Li, Ziqi Shang and Jiangtao Dong
    Citation: BMC Medical Genomics 2023 16:163
  15. Glucose phosphate isomerase (GPI) deficiency is an extremely rare autosomal recessive disorder caused by mutations in the GPI gene. In this research, the proband displaying typical manifestations of haemolytic an...

    Authors: Yang Wang, Tao Liu, Jiaqi Liu, Yan Xiang, Lan Huang, Jiacheng Li, Xizhou An, Shengyan Cui, Zishuai Feng and Jie Yu
    Citation: BMC Medical Genomics 2023 16:162
  16. Host response to virus infection is key to the effective control and eventual elimination of viruses or infected cells; however, the underlying mechanism of Japanese encephalitis virus (JEV) infection remains ...

    Authors: Chaoyue Liu, Yanhong Yang, Qianqian Li, Weimin Hu, Jinxia Chang, Rong Chen, Hong Zhu and Mingfei Xu
    Citation: BMC Medical Genomics 2023 16:161
  17. Chronic lung diseases are characterized by impaired lung function. Given that many diseases have shared clinical symptoms and pathogenesis, identifying shared pathogenesis can help the design of preventive and...

    Authors: Hadi Rezaeeyan, B. Fatemeh Nobakht M. Gh and Masoud Arabfard
    Citation: BMC Medical Genomics 2023 16:159
  18. Despite advances in treatment, recurrence and mortality rates from breast cancer (BrCa) continue to rise, clinical effectiveness is limited, and prognosis remains disappointing, especially for patients with HE...

    Authors: Chun Li and Yicong Zhang
    Citation: BMC Medical Genomics 2023 16:158
  19. Mitchell syndrome (MITCH) is a rare autosomal dominant hereditary disorder, characterized by episodic demyelination, sensorimotor polyneuropathy and hearing loss. MITCH is caused by heterozygous mutation in th...

    Authors: Mengxiao Shen, Qian Chen, Yanyan Gao, Hongyu Yan, Shuo Feng, Xinna Ji and Xue Zhang
    Citation: BMC Medical Genomics 2023 16:156
  20. Globally, gastric cancer (GC) is one of the world’s most widespread malignancies, with persistent high mortality and morbidity rates. Increasing evidence now suggests that microRNAs (miRNAs) participate in man...

    Authors: Ting Zhan, Mengge Chen, Weijie Liu, Zheng Han, Qingxi Zhu, Meng Liu, Jie Tan, Jiaxi Liu, Xiaoli Chen, Xia Tian and Xiaodong Huang
    Citation: BMC Medical Genomics 2023 16:155
  21. Gliomas are tumours arising mostly from astrocytic or oligodendrocytic precursor cells. These tumours are classified according to the updated WHO classification from 2021 in 4 grades depending on molecular and...

    Authors: Marina Petkovic, Müge Yalçin, Oliver Heese and Angela Relógio
    Citation: BMC Medical Genomics 2023 16:154
  22. Esophageal squamous cell carcinoma (ESCC) is a highly heterogeneous cancer that lacks comprehensive understanding and effective treatment. Although multi-omics study has revealed features and underlying driver...

    Authors: Jingjing Zhao, Xiya Jia, Qiaojuan Li, Hena Zhang, Jianjun Wang, Shenglin Huang, Zhixiang Hu and Caiping Li
    Citation: BMC Medical Genomics 2023 16:153
  23. Mal de Meleda is an autosomal recessive palmoplantar keratoderma, with SLURP1 identified as the pathogenic gene responsible. Although over 20 mutations in SLURP1 have been reported, only the mutation c.256G > A (...

    Authors: Tian Wang, Zhuangli Tang, Tong Xiao, Junru Ren, Shuyao He, Yan Liu, Shengxiang Xiao and Xiaopeng Wang
    Citation: BMC Medical Genomics 2023 16:152
  24. COVID-19 manifests with huge heterogeneity in susceptibility and severity outcomes. UK Black Asian and Minority Ethnic (BAME) groups have demonstrated disproportionate burdens. Some variability remains unexpla...

    Authors: Raabia Farooqi, Jaspal S. Kooner and Weihua Zhang
    Citation: BMC Medical Genomics 2023 16:150
  25. Staphylococcus aureus (S. aureus) infection-induced osteomyelitis (OM) is an inflammatory bone disease accompanied by persistent bone destruction, and the treatment is challenging because of its tendency to recur...

    Authors: Xiangwen Shi, Haonan Ni, Linmeng Tang, Mingjun Li, Yipeng Wu and Yongqing Xu
    Citation: BMC Medical Genomics 2023 16:149
  26. The human genome encodes more than 350 kinds of Krüppel-associated box (KRAB) domain-containing zinc-finger proteins (KZFPs), KRAB-type ZNF transcription factor family (KZNF) plays a vital role in gene regulat...

    Authors: Xiangqian Dong, Yinghui Zhang, Yang Sun, Qiong Nan, Maojuan Li, Lanqing Ma, Lei Zhang, Juan Luo, Yating Qi and Yinglei Miao
    Citation: BMC Medical Genomics 2023 16:148
  27. Whole exome sequencing (WES) can also detect some intronic variants, which may affect splicing and gene expression, but how to use these intronic variants, and the characteristics about them has not been repor...

    Authors: Li Zhang, Minna Shen, Xianhong Shu, Jingmin Zhou, Jing Ding, Chunjiu Zhong, Baishen Pan, Beili Wang, Chunyan Zhang and Wei Guo
    Citation: BMC Medical Genomics 2023 16:146
  28. Carbamoyl phosphate synthetase I defect (CPS1D) is a rare disease with clinical case reports mainly in early neonates or adults, with few reports of first onset in late neonatal to childhood. We studied the cl...

    Authors: Shangyu Wang, Jinglin Chen, Xiaoqi Zhu, Tingting Huang, Haifeng Xu, Guohuan Ying, Hao Qian, Wenxin Lin, Yiehen Tung, Kaleem Ullah Khan, Hu Guo, Guo Zheng, Haiying Lu and Gang Zhang
    Citation: BMC Medical Genomics 2023 16:145
  29. Observational studies have revealed a link between major depressive disorder (MDD) and a higher chance of developing atrial fibrillation (AF). It is still uncertain whether or not this correlation indicates a ...

    Authors: Lei Wang and Chunhua Ding
    Citation: BMC Medical Genomics 2023 16:144
  30. Bi-allelic variants in the mitochondrial arginyl-transfer RNA synthetase (RARS2) gene have been involved in early-onset encephalopathies classified as pontocerebellar hypoplasia (PCH) type 6 and in epileptic ence...

    Authors: Romain Nicolle, Nami Altin, Karine Siquier-Pernet, Sherlina Salignac, Pierre Blanc, Arnold Munnich, Christine Bole-Feysot, Valérie Malan, Barthélémy Caron, Patrick Nitschké, Isabelle Desguerre, Nathalie Boddaert, Marlène Rio, Antonio Rausell and Vincent Cantagrel
    Citation: BMC Medical Genomics 2023 16:143
  31. This article aims at exploring the role of hypoxia-related genes and immune cells in spinal tuberculosis and tuberculosis involving other organs.

    Authors: Shaofeng Wu, Tuo Liang, Jie Jiang, Jichong Zhu, Tianyou Chen, Chenxing Zhou, Shengsheng Huang, Yuanlin Yao, Hao Guo, Zhen Ye, Liyi Chen, Wuhua Chen, Binguang Fan, Jiahui Qin, Lu Liu, Siling Wu…
    Citation: BMC Medical Genomics 2023 16:142
  32. Ovarian cancer (OV) has a high mortality rate all over the world, and extrachromosomal circular DNA (eccDNA) plays a key role in carcinogenesis. We wish to study more about the molecular structure of eccDNA in...

    Authors: Ying Zhang, Kexian Dong, Xueyuan Jia, Shuomeng Du, Dong Wang, Liqiang Wang, Han Qu, Shihao Zhu, Yang Wang, Zhao Wang, Shuopeng Zhang, Wenjing Sun and Songbin Fu
    Citation: BMC Medical Genomics 2023 16:140
  33. Atherosclerosis (AS) is a leading cause of morbidity and mortality in older patients and features progressive formation of plaques in vascular tissues. With the progression of atherosclerosis, plaque rupture m...

    Authors: Zhanli Peng, Kangjie Wang, Shenming Wang, Ridong Wu and Chen Yao
    Citation: BMC Medical Genomics 2023 16:139
  34. The aim of this study was to construct a model used for the accurate diagnosis of Atopic dermatitis (AD) using pyroptosis related biological markers (PRBMs) through the methods of machine learning.

    Authors: Wenfeng Wu, Gaofei Chen, Zexin Zhang, Meixing He, Hongyi Li and Fenggen Yan
    Citation: BMC Medical Genomics 2023 16:138
  35. Most endometrial cancers are of low histological grade and uterine-confined, with a high 5-year survival rate. However, a small subset of women with low-grade and early-stage endometrioid endometrial cancer ex...

    Authors: Lan Zhong, Wei Jiang, RutieYin, Hui Liu and Liang Song
    Citation: BMC Medical Genomics 2023 16:137
  36. Gastric cancer (GC) is among the most common types of gastrointestinal cancers and has a high incidence and mortality around the world. To suppress the progression of GC, it is essential to develop diagnostic ...

    Authors: Yeongdon Ju, Go-Eun Choi, Moon Won Lee, Myeongguk Jeong, Hyeokjin Kwon, Dong Hyeok Kim, Jungho Kim, Hyunwoo Jin, Kyung Eun Lee, Kyung-Yae Hyun and Aelee Jang
    Citation: BMC Medical Genomics 2023 16:135
  37. Vascular smooth muscle cells (VSMCs) dysfunction participates in carotid artery stenosis (CAS). The study aimed to examine the expression pattern of miR-361-5p in CAS patients, and explore its role in VSMCs pr...

    Authors: Fei Wang, Yumei An and Huihui Hao
    Citation: BMC Medical Genomics 2023 16:134
  38. The primary pathological alterations of Pendred syndrome are endolymphatic pH acidification and luminal enlargement of the inner ear. However, the molecular contributions of specific cell types remain poorly c...

    Authors: Jin-Young Koh, Corentin Affortit, Paul T. Ranum, Cody West, William D. Walls, Hidekane Yoshimura, Jian Q. Shao, Brian Mostaert and Richard J.H. Smith
    Citation: BMC Medical Genomics 2023 16:133
  39. Recent studies suggest that classical coronary risk factors play a significant role in the pathogenesis of coronary artery disease. Our study aims to explore the interaction of circRNA with classical coronary ...

    Authors: Shu He, Yahong Fu, Chengcheng Li, Xiongkang Gan, Yanjun Wang, Hanxiao Zhou, Rongli Jiang, Qian Zhang, Qiaowei Jia, Xiumei Chen and En-Zhi Jia
    Citation: BMC Medical Genomics 2023 16:131
  40. Hepatocellular carcinoma (HCC) immunotherapy is a focus of current research. We established a model that can effectively predict the prognosis and efficacy of HCC immunotherapy by analyzing the immune genes of...

    Authors: Liang Sun, Zhengyi Wu, Cairong Dong, Shian Yu, He Huang, Zhendong Chen, Zhipeng Wu and Xiangbao Yin
    Citation: BMC Medical Genomics 2023 16:130

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