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  1. The most prevalent mutation in ovarian cancer is the TP53 mutation, which impacts the development and prognosis of the disease. We looked at how the TP53 mutation associates the immunophenotype of ovarian canc...

    Authors: Zhenxia Song, Jingwen Zhang, Yue Sun, Zhongmin Jiang and Xiaoning Liu
    Citation: BMC Medical Genomics 2023 16:227
  2. Pathogenic variants in the ATCAY gene are associated with a rare autosomal recessive disorder called Cayman cerebellar ataxia. Affected individuals display psychomotor retardation, cerebellar dysfunction, nystagm...

    Authors: Elham Salehi Siavashani, Mahmoud Reza Ashrafi, Homa Ghabeli, Morteza Heidari and Masoud Garshasbi
    Citation: BMC Medical Genomics 2023 16:226
  3. Individuals with sepsis exhibited a higher likelihood of benefiting from early initiation of specialized treatment to enhance the prognosis of the condition. The objective of this study is to identify potentia...

    Authors: Jinliang Peng, Chongrong Qiu, Jun Zhang and Xiaoliu Xiao
    Citation: BMC Medical Genomics 2023 16:224
  4. Joubert syndrome (JS) is a group of rare ciliopathies, mainly characterized by cerebellar dysplasia representing the “molar tooth sign (MTS)” on neuroimaging, hypotonia, and developmental delay. Having a compl...

    Authors: Liwei Fang, Lulu Wang, Li Yang, Xiaoyan Xu, Shanai Pei and De Wu
    Citation: BMC Medical Genomics 2023 16:221
  5. There is still a therapeutic challenge in treating gastric cancer (GC) due to its high incidence and poor prognosis. Collagen type V alpha 2 (COL5A2) is increased in various cancers, yet it remains unclear how...

    Authors: Meiru Chen, Xinying Zhu, Lixian Zhang and Dongqiang Zhao
    Citation: BMC Medical Genomics 2023 16:220
  6. The largest group of patients with breast cancer are estrogen receptor-positive (ER+) type. The estrogen receptor acts as a transcription factor and triggers cell proliferation and differentiation. Hence, investi...

    Authors: Zeynab Piryaei, Zahra Salehi, Esmaeil Ebrahimie, Mansour Ebrahimi and Kaveh Kavousi
    Citation: BMC Medical Genomics 2023 16:219
  7. This study aimed to uncover abnormally expressed genes regulated by competitive endogenous RNA (ceRNA) and DNA methylation nasopharyngeal carcinoma and to validate the role of lncRNAs in the ceRNA network on n...

    Authors: Ting Zhang, Lu Pei, Wen-Li Qiu, Yu-xia Wei, Bi-yun Liao and Feng-lian Yang
    Citation: BMC Medical Genomics 2023 16:218
  8. Colorectal cancer is a malignant tumor that poses a serious threat to human health. The main objective of this study is to investigate the mechanism by which Jatrorrhizine (JAT), a root extract from Stephania Epi...

    Authors: Lingyu Huang, Yu Sha, Wenken Liang, Chune Mo, Chunhong Li, Yecheng Deng, Weiwei Gong, Xianliang Hou and Minglin Ou
    Citation: BMC Medical Genomics 2023 16:217
  9. Polycystic ovary syndrome is a multifactorial endocrine disorder impacting women of reproductive age. Variations within the FTO gene have been linked to both obesity and type 2 diabetes mellitus. Given that PCOS ...

    Authors: Hiral Chaudhary, Jalpa Patel, Nayan K. Jain, Sonal Panchal, Naresh Laddha and Rushikesh Joshi
    Citation: BMC Medical Genomics 2023 16:216
  10. Hereditary hemolytic anemia (HHA) refers to a heterogeneous group of genetic disorders that share one common feature: destruction of circulating red blood cells (RBCs). The destruction of RBCs may be due to me...

    Authors: Yu Jeong Choi, Hongkyung Kim, Won Kee Ahn, Seung-Tae Lee, Jung Woo Han, Jong Rak Choi, Chuhl Joo Lyu, Seungmin Hahn and Saeam Shin
    Citation: BMC Medical Genomics 2023 16:215
  11. Dendritic cells (DCs) are most potent antigen-processing cells and play key roles in host defense against Mycobacterium tuberculosis (MTB) infection. In this study, hub genes in DCs during MTB infection were firs...

    Authors: Xiao Wu, Kewei Liu, Shanshan Li, Weicong Ren, Wei Wang, Yuanyuan Shang, Fuzhen Zhang, Yingying Huang, Yu Pang and Mengqiu Gao
    Citation: BMC Medical Genomics 2023 16:214
  12. Considering the essential roles that genetic factors play in azoospermia and oligospermia, this study aims to identify abnormal chromosomes using karyotyping and CNVs and elucidate the associated genes in pati...

    Authors: Xing Xin, Peng Xu, Nan Wang, Yi Jiang, Jiaqiao Zhang, Shufang Li, Ying Zhu, Cong Zhang, Long Zhang, Hailong Huang, Ling Feng and Shaoshuai Wang
    Citation: BMC Medical Genomics 2023 16:213
  13. The correlation between smoking and alcohol consumption and the development of Dupuytren’s disease (DD) has been acknowledged. However, the definitive causal relationship between these two factors and DD remai...

    Authors: Zifeng Wang, Zhenyu Wang, Zijian Yan, Zhujie Xu and Aiguo Gao
    Citation: BMC Medical Genomics 2023 16:212
  14. Hepatocellular carcinoma (HCC) is a prevalent tumor that poses a significant threat to human health, with 80% of cases being primary HCC. At present, Early diagnosis and predict prognosis of HCC is challenging...

    Authors: Deyang Xi, Jialu Wang, Yinshuang Yang, Fang Ji, Chunyang Li and Xuebing Yan
    Citation: BMC Medical Genomics 2023 16:211
  15. Cerebral ischaemia‒reperfusion (I/R) frequently causes late-onset neuronal damage. Breviscapine promotes autophagy in microvascular endothelial cells in I/R and can inhibit oxidative damage and apoptosis. Howe...

    Authors: Cheng Wan, Jingchun Pei, Dan Wang, Jihong Hu, Zhiwei Tang and Wei Zhao
    Citation: BMC Medical Genomics 2023 16:210
  16. Gastric cancer (GC) is one of the most common malignancies, affected by several genetic loci in the clinical phenotype. This study aimed to determine the association between PTGER4 and PRKAA1 gene polymorphisms a...

    Authors: Shuyong Yu, Ruisha Tu, Zhaowei Chen, Jian Song, Ping Li, Feixiang Hu, Guihong Yuan, Ronglin Zhang and Yini Li
    Citation: BMC Medical Genomics 2023 16:209
  17. Attention deficit hyperactivity disorder (ADHD) is commonly associated with developmental dyslexia (DD), which are both prevalent and complicated pediatric neurodevelopmental disorders that have a significant ...

    Authors: HE Hongyao, JI Chun, Gao Xiaoyan, Liu Fangfang, Zhang Jing, Zhong Lin, Zuo Pengxiang and Li Zengchun
    Citation: BMC Medical Genomics 2023 16:208
  18. Statin-induced myopathy is reported to be associated with the solute carrier organic anion transporter family member 1B1 gene single nucleotide polymorphism, c.521 T > C. There is no epidemiologic data on this...

    Authors: Mulata Haile Nega, Derbew Fikadu Berhe and Vera Ribeiro
    Citation: BMC Medical Genomics 2023 16:207
  19. To analyze the relationship between plasma metal elements, ApoE gene polymorphisms and the interaction between the two and impaired cognitive function in elderly population.

    Authors: Zeyan Ye, Dechan Tan, Tingyu Luo, Ruoyu Gou, Jianshen Cai, Yanfei Wei, Kailian He, Song Xiao, Tingyu Mai, Xu Tang, Qiumei Liu, Xiaoting Mo, Yinxia Lin, Shenxiang Huang, You Li, Jian Qin…
    Citation: BMC Medical Genomics 2023 16:206
  20. The SARS-CoV-2 Omicron variant has replaced the previously dominant Delta variant because of high transmissibility. However, studies on the impact of the Omicron variant on the severity of COVID-19 are still l...

    Authors: Gunadi, Mohamad Saifudin Hakim, Hendra Wibawa, Khanza Adzkia Vujira, Dyah Ayu Puspitarani, Endah Supriyati, Ika Trisnawati, Kristy Iskandar, Riat El Khair, Afiahayati, Siswanto, Yunika Puspadewi, Sri Handayani Irianingsih, Dwi Aris Agung Nugrahaningsih, Laudria Stella Eryvinka, Fadila Dyah Trie Utami…
    Citation: BMC Medical Genomics 2023 16:205
  21. The genetic architecture of rheumatoid arthritis (RA) and osteoarthritis (OA) are still unclear. Although RA and OA have quite different causes, they share synovial inflammation, risk factors, and some disease...

    Authors: Aliaa M. Selim, Yumn A. Elsabagh, Maha M. El-Sawalhi, Nabila A. Ismail and Mahmoud A. Senousy
    Citation: BMC Medical Genomics 2023 16:204
  22. Neurodevelopmental disorder with absent language and variable seizures (NEDALVS, # 618707) are characterized by delayed speech and motor development, ocular abnormalities, and seizures. NEDAVLS is an autosomal...

    Authors: Xiang Tang, Guoqing Liu, Li Lin, Nong Xiao and Yuxia Chen
    Citation: BMC Medical Genomics 2023 16:203
  23. 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
  24. 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
  25. 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
  26. 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
  27. 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
  28. 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
  29. 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
  30. 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
  31. 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
  32. 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
  33. 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
  34. 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
  35. 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
  36. 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
  37. 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
  38. 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
  39. 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
  40. 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
  41. 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
  42. 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

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