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  1. Functional changes in subcutaneous adipose tissue (SAT) occur earlier in the aging process and play an important role in the occurrence and development of age-related metabolic diseases. The mechanism of this ...

    Authors: Wen-Na Zhang, Hao Zhu, Zhen-Wu Ma, Jing Yu, Yun Yang, Xuan-Bei Lu, Yi-Fan Lv and Xiao-Dong Wang
    Citation: BMC Medical Genomics 2023 16:202
  2. To screen the possible potential signaling pathways related to enhancer of zeste homolog 2 (EZH2) based on ceRNA mechanism, and to analyze the correlation between E2H2 and depths of various immune cell infiltr...

    Authors: Haoran Zhao, Haishi Liu, Wenli Kang, Chao Zhan, Yingchun Man and Tong Qu
    Citation: BMC Medical Genomics 2023 16:201
  3. This study aimed to compare the performance of Sanger-based SARS-CoV-2 spike gene sequencing and Next Generation Sequencing (NGS)-based full-genome sequencing for variant identification in saliva samples with ...

    Authors: Ko Ko, Kazuaki Takahashi, Noriaki Ito, Aya Sugiyama, Shintaro Nagashima, Kei Miwata, Yoshihiro Kitahara, Mafumi Okimoto, Serge Ouoba, Golda Ataa Akuffo, Bunthen E, Tomoyuki Akita, Toshiro Takafuta and Junko Tanaka
    Citation: BMC Medical Genomics 2023 16:199
  4. Osteoarthritis is a very common clinical disease in middle-aged and elderly individuals, and with the advent of ageing, the incidence of this disease is gradually increasing. There are few studies on the role ...

    Authors: Xiaojing Huang, Hongming Meng, Zeyu Shou, Jiahuan Yu, Kai Hu, Liangyan Chen, Han Zhou, Zhibiao Bai and Chun Chen
    Citation: BMC Medical Genomics 2023 16:198
  5. 1q21.1q21.2 microdeletions/microduplications are rare and incompletely penetrant genetic mutations, and only a few reports regarding their prenatal diagnosis are currently available. Here, we analyzed the ultr...

    Authors: Nan Guo, Huili Xue, Bin Liang, Hailong Huang, Meiying Cai and Liangpu Xu
    Citation: BMC Medical Genomics 2023 16:197
  6. Short stature is a common human trait. More severe and/or associated short stature is usually part of the presentation of a syndrome and may be a monogenic disease. The present study aimed to identify the gene...

    Authors: Qianqian Zhao, Yanying Li, Qian Shao, Chuanpeng Zhang, Shuang Kou, Wanling Yang, Mei Zhang and Bo Ban
    Citation: BMC Medical Genomics 2023 16:194
  7. Genodermatoses are a broad group of disorders with specific or non-specific skin-based phenotypes, most of which are monogenic disorders. However, it’s a great challenge to make a precise molecular diagnosis b...

    Authors: Zhu Xintong, Zhang Kexin, Wang Junwen, Wang Ziyi, Luo Na and Guo Hong
    Citation: BMC Medical Genomics 2023 16:193
  8. N6-methyladenosine (m6A) has been confirmed to function critically in acute myeloid leukemia (AML) progression. Hitherto, the subtyping and prognostic predictive significance of m6A-correlated genes in AML is ...

    Authors: Caizhu Fu, Ruirui Kou, Jie Meng, Duanfeng Jiang, Ruilan Zhong and Min Dong
    Citation: BMC Medical Genomics 2023 16:191
  9. Rhizomelic limb shortening with dysmorphic features (RLSDF) has already been a disorder of the rare autosomal recessive skeletal dysplasia, just having a few reported cases. RLSDF is caused by protein kinase d...

    Authors: Lulu Yan, Juan Cao, Yuxin Zhang, Yingwen Liu, Jinghui Zou, Biying Lou, Danyan Zhuang and Haibo Li
    Citation: BMC Medical Genomics 2023 16:190
  10. Wilms tumour (WT) is a mixed type of embryonal tumour that usually occurs in early childhood. However, our knowledge of the pathogenesis or progression mechanism of WT is inadequate, and there is a scarcity of...

    Authors: Bin Xiang, Mei-Lin Chen, Zhi-Qiang Gao, Tao Mi, Qin-Lin Shi, Jun-Jun Dong, Xiao-Mao Tian, Feng Liu and Guang-Hui Wei
    Citation: BMC Medical Genomics 2023 16:189
  11. Hepatocellular carcinoma (HCC) is one of the deadliest malignancies worldwide, with late detection, ineffective treatment and poor overall survival. Immunotherapy, including immune checkpoint inhibitor (ICI) t...

    Authors: Xinyao Hu, Dan Li, Hua Zhu, Tao Yu, Xiaoxing Xiong and Ximing Xu
    Citation: BMC Medical Genomics 2023 16:188
  12. Observational studies have suggested a close association between atrial fibrillation (AF) and heart failure (HF), yet the causal effect remains uncertain. In this study, we employed a bidirectional Mendelian r...

    Authors: Zhuxin Zhang, Le Li, Zhao Hu, Likun Zhou, Zhenhao Zhang, Yulong Xiong and Yan Yao
    Citation: BMC Medical Genomics 2023 16:187
  13. Xeroderma pigmentosum group E (XP-E) is one of the least common forms of XP, a rare syndrome where patients are prone to develop skin cancer in exposed sunlight areas. XP-E patients are generally not diagnosed...

    Authors: Ana Rafaela de Souza Timoteo, Isabel Cristina Pinheiro de Almeida, Andrey A Yurchenko, Sheila Ramos de Miranda Henriques, Paulo de Souza Segundo, Fatemeh Rajabi, Sergey Nikolaev and Tirzah Braz Petta
    Citation: BMC Medical Genomics 2023 16:186
  14. Infantile myofibromatosis (IM) is a rare disorder characterized by the formation of nodules in the skin, muscle, bone, and, more rarely, visceral organs. Very few cases are detected prenatally, and the final d...

    Authors: Yan Lü, Yulin Jiang, Huanwen Wu, Qingwei Qi, Xiya Zhou, Qi Guo, Na Hao, Juntao Liu and Hua Meng
    Citation: BMC Medical Genomics 2023 16:185
  15. Although immunotherapy has been considered as a potent strategy for lung adenocarcinoma (LUAD), only a small part of patients was served as potentially clinical benefiters. Immunogenic cell death (ICD), a type...

    Authors: Yingshu Cui, Yi Li, Shan Long, Yuanyuan Xu, Xinxin Liu, Zhijia Sun, Yuanyuan Sun, Jia Hu and Xiaosong Li
    Citation: BMC Medical Genomics 2023 16:184
  16. Major depressive disorder (MDD) is a highly heterogeneous mental illness and a major public health problem worldwide. A large number of observational studies have demonstrated a clear association between MDD a...

    Authors: Qianjie Xu, Chen Chen, Ruijia You, Linghao Ni, Siyu Chen and Bin Peng
    Citation: BMC Medical Genomics 2023 16:183
  17. Pathogenic variation of the MECP2 gene presents mostly as Rett syndrome in females and is extremely rare in males. Most male patients with MECP2 gene mutation show MECP2 duplication syndrome.

    Authors: Jianmin Liang, Cuijuan Xin, Meiying Xin, Guangliang Wang and Xuemei Wu
    Citation: BMC Medical Genomics 2023 16:181
  18. Osteosarcoma, as the most common primary bone malignancy, is urgent to be well-studied on the biomarkers and therapeutic targets to improve the five-year survival rate. Transcriptomic analysis using single-cel...

    Authors: Lin Yu, Sun Hongyu and Chen Yuxi
    Citation: BMC Medical Genomics 2023 16:180
  19. 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
  20. 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
  21. 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
  22. 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
  23. 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
  24. 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
  25. 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
  26. 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

  27. 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
  28. 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
  29. 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
  30. 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
  31. 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
  32. 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
  33. 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
  34. 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
  35. 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
  36. 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
  37. 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
  38. 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
  39. 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
  40. 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

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