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  1. Drugs produce pharmaceutical and adverse effects that arise from the complex relationship between drug targets and signatures; by considering such relationships, we can begin to understand the cellular mechani...

    Authors: Chae Won Lee, Sung Min Kim, Soonok Sa, Myunghee Hong, Sang-Min Nam and Hyun Wook Han
    Citation: BMC Medical Genomics 2023 16:17
  2. Immunoglobulin A nephropathy (IgAN) is a complex autoimmune disease, and the exact pathogenesis remains to be elucidated. This study aimed to explore genes underlying the pathogenesis of IgAN.

    Authors: Qian Zhang, Kang Zhang, Yining Zhu, Guangwei Yuan, Jingyun Yang and Minmin Zhang
    Citation: BMC Medical Genomics 2023 16:16
  3. Amyotrophic lateral sclerosis (ALS) is the most common neurodegenerative disease in adults. However, ALS, especially sporadic ALS (sALS), is difficult to diagnose due to the lack of biomarkers.

    Authors: Yifu Liao, Haiping Cai, Feifei Luo, Dongcheng Li, Hao Li, Geng Liao, Jinhai Duan, Renshi Xu and Xiong Zhang
    Citation: BMC Medical Genomics 2023 16:15
  4. The emergence of SARS-CoV-2 variants including the Delta and Omicron along with waning of vaccine-induced immunity over time contributed to increased rates of breakthrough infection specifically among healthca...

    Authors: Habib AlKalamouni, Farouk F. Abou Hassan, Mirna Bou Hamdan, Andrew J. Page, Martin Lott, Michaela Matthews, Nada Ghosn, Alissar Rady, Rami Mahfouz, George F. Araj, Ghassan Dbaibo, Hassan Zaraket, Nada M. Melhem and Ghassan M. Matar
    Citation: BMC Medical Genomics 2023 16:14
  5. Genome-wide sequencing may extensively identify potential pathogenic variants, which helps to understand mechanisms of tumorigenesis, but such study has not been reported in benzene-induced leukemia (BIL).

    Authors: Dafeng Lin, Dianpeng Wang, Peimao Li, Lihua Deng, Zhimin Zhang, Yanfang Zhang, Ming Zhang and Naixing Zhang
    Citation: BMC Medical Genomics 2023 16:13
  6. Leucine-rich repeat sequence domains are known to mediate protein‒protein interactions. Recently, some studies showed that members of the leucine rich repeat containing (LRRC) protein superfamily may become ne...

    Authors: Xiaoying Zhu, Shijing You, Xiuzhen Du, Kejuan Song, Teng Lv, Han Zhao and Qin Yao
    Citation: BMC Medical Genomics 2023 16:10
  7. Retinitis pigmentosa (RP) is the most common type of inherited retinopathy. At least 69 genes for RP have been identified. A significant proportion of RP, however, remains genetically unsolved. In this study, ...

    Authors: Wei Xu, Ming Xu, Qinqin Yin, Chuangyi Liu, Qiuxiang Cao, Yun Deng, Sulai Liu and Guiyun He
    Citation: BMC Medical Genomics 2023 16:9
  8. Over the last decade, the implementation of multigene panels for hereditary tumor syndrome has increased at our institution (Inselspital, University Hospital Berne, Switzerland). The aim of this study was to d...

    Authors: Felicia Adam, Muriel Fluri, Amina Scherz and Manuela Rabaglio
    Citation: BMC Medical Genomics 2023 16:7
  9. Constitutional mismatch repair deficiency (CMMRD) results from a biallelic germline pathogenic variant in a mismatch repair (MMR) gene. The most common CMMRD-associated malignancies are brain tumors; an accura...

    Authors: Shumpei Onishi, Fumiyuki Yamasaki, Kazuya Kuraoka, Akira Taguchi, Takeshi Takayasu, Kiwamu Akagi and Takao Hinoi
    Citation: BMC Medical Genomics 2023 16:6
  10. The X-linked PTCHD1 locus is strongly associated with autism spectrum disorder (ASD). Males who carry chromosome microdeletions of PTCHD1 antisense long non-coding RNA (PTCHD1-AS)/DEAD-box helicase 53 (DDX53) hav...

    Authors: Muhammad Faheem, Eric Deneault, Roumiana Alexandrova, Deivid C. Rodrigues, Giovanna Pellecchia, Carole Shum, Mehdi Zarrei, Alina Piekna, Wei Wei, Jennifer L. Howe, Bhooma Thiruvahindrapuram, Sylvia Lamoureux, P. Joel Ross, Clarrisa A. Bradley, James Ellis and Stephen W. Scherer
    Citation: BMC Medical Genomics 2023 16:5
  11. KIAA0586, also known as Talpid3, plays critical roles in primary cilia formation and hedgehog signaling in humans. Variants in KIAA0586 could cause some different ciliopathies, including Joubert syndrome (JBTS), ...

    Authors: Yue Shen, Chao Lu, Tingting Cheng, Zongfu Cao, Cuixia Chen, Xu Ma, Huafang Gao and Minna Luo
    Citation: BMC Medical Genomics 2023 16:4
  12. Pathogenic PAK1 variants were described to be causative of neurodevelopmental disorder with macrocephaly, seizures, and speech delay. Herein, we present a de novo PAK1 variant combine with a de novo terminal 1q m...

    Authors: Jianlong Zhuang, Meihua Xie, Jianfeng Yao, Wanyu Fu, Shuhong Zeng, Yuying Jiang, Yuanbai Wang, Yingjun Xie, Gaoxiong Wang and Chunnuan Chen
    Citation: BMC Medical Genomics 2023 16:3
  13. Hepatocellular Carcinoma (HCC) is a common malignant neoplasm with limited treatment options and poor outcomes. Thus, there is an urgent need to find sensitive biomarkers for HCC.

    Authors: Dezhao Lin, Zhuoyan Chen, Yuan Zeng, Yinrong Ding, Luying Zhao, Qian Xu, Fujun Yu, Xian Song and Xiaohong Zhu
    Citation: BMC Medical Genomics 2023 16:2
  14. Cutaneous melanoma is the skin cancer with the highest mutational burden and metastatic rate. Early genetic alterations and biomarkers of distant progression are a point of interest. In addition to germline-su...

    Authors: Ana Mordoh, Juan Carlos Triviño Pardo, Ibel Carri, María Marcela Barrio, José Mordoh and Mariana Aris
    Citation: BMC Medical Genomics 2023 16:1
  15. Previous studies showed that peroxisome proliferator-activated receptor gamma (PPARγ) and PPARγ coactivator1 family (PPARGC1A and PPARGC1B) gene single nucleotide variants (SNVs)were strongly associated with canc...

    Authors: Boyang Chen, Yafeng Wang, Weifeng Tang, Yu Chen, Chao Liu, Mingqiang Kang and Jinbiao Xie
    Citation: BMC Medical Genomics 2022 15:274
  16. Osteoarthritis (OA) is a common disease in orthopedics. RNA N6-methyladenosine (m6A) exerts an essential effect in a variety of biological processes in the eukaryotes. In this study, we determined the effect o...

    Authors: Shidong Hu, Chen Shen, Xudong Yao, Yulong Zou, Ting Wang, Xianding Sun and Mao Nie
    Citation: BMC Medical Genomics 2022 15:273
  17. Nasopharyngeal carcinoma (NPC) has insidious onset, late clinical diagnosis and high recurrence rate, which leads to poor quality of patient life. Therefore, it is necessary to further explore the pathogenesis...

    Authors: Li-Ting Qin, Si-Wei Huang, Zhi-Guang Huang, Yi-Wu Dang, Ye-Ying Fang, Juan He, Yi-Tong Niu, Cai-Xing Lin, Ji-Yun Wu and Zhu-Xin Wei
    Citation: BMC Medical Genomics 2022 15:272
  18. Homocystinuria due to methylenetetrahydrofolate reductase (MTHFR) deficiency is a rare autosomal recessive disorder. The purpose of this study is to expand the mutation site of the MTHFR gene and provide genetic ...

    Authors: Yitong Lu, Shaozhi Zhao, Xiaohui He, Hua Yang, Xiaolei Wang, Chen Miao, Hongwei Liu and Xinwen Zhang
    Citation: BMC Medical Genomics 2022 15:271
  19. To construct the lncRNA-miRNA-mRNA competing endogenous RNA (ceRNA) network based on our microarray chip data for providing new insights into the pathogenesis of autoimmune hepatitis.

    Authors: Zhencheng Li, Ying Liu, Yiwen Hou, Zhurong Li, Chen Chen, Huiqin Hao and Yang Liu
    Citation: BMC Medical Genomics 2022 15:270
  20. Oral squamous cell carcinoma (OSCC) accounts for a frequently-occurring head and neck cancer, which is characterized by high rates of morbidity and mortality. Metabolism-related genes (MRGs) show close associa...

    Authors: Jingfei Zhang, Chenxi Ma, Han Qin, Zhi Wang, Chao Zhu, Xiujuan Liu, Xiuyan Hao, Jinghua Liu, Ling Li and Zhen Cai
    Citation: BMC Medical Genomics 2022 15:269
  21. 17p13.3 microdeletions or microduplications (collectively known as copy number variants or CNVs) have been described in individuals with neurodevelopmental disorders. However, 17p13.3 CNVs were rarely reported...

    Authors: Bin Liang, Donghong Yu, Wantong Zhao, Yan Wang, Xiaoqing Wu, Lingji Chen, Na Lin, Hailong Huang and Liangpu Xu
    Citation: BMC Medical Genomics 2022 15:268
  22. Down syndrome (DS) is caused by the presence of an extra copy of full or partial human chromosome 21 (Hsa21). Partial (segmental) trisomy 21 (PT21) is the duplication of only a delimited region of Hsa21 and ca...

    Authors: Maria Chiara Pelleri, Chiara Locatelli, Teresa Mattina, Maria Clara Bonaglia, Francesca Piazza, Pamela Magini, Francesca Antonaros, Giuseppe Ramacieri, Beatrice Vione, Lorenza Vitale, Marco Seri, Pierluigi Strippoli, Guido Cocchi, Allison Piovesan and Maria Caracausi
    Citation: BMC Medical Genomics 2022 15:266
  23. Recently, increasing attention has been drawn to the impact of the tumor microenvironment (TME) on the occurrence and progression of malignant tumors. A variety of 3D culture techniques have been used to simul...

    Authors: Sen Yang, Zhi Tian, Yi Feng, Kun Zhang, Yongchun Pan, Yuan Li, Zhichao Wang, Wenhao Wei, Xiaochen Qiao, Ruhao Zhou, Lei Yan, Qian Li, Hua Guo, Jie Yuan, Pengcui Li and Zhi Lv
    Citation: BMC Medical Genomics 2022 15:265
  24. Coronary artery disease (CAD) is one of the most common heart diseases, characterized by the hardening and narrowing of arteries, resisting blood supply to cardiac muscle. Despite extensive research, the patho...

    Authors: Lian Duan, Yongmei Liu, Jun Li, Yun Zhang, Jiangquan Liao, Yan Dong and Wang Jie
    Citation: BMC Medical Genomics 2022 15:264
  25. Recent studies have demonstrated that long non-coding RNAs (lncRNAs) are involved in regulating tumor cell ferroptosis. However, prognostic signatures based on ferroptosis-related lncRNAs (FRLs) and their rela...

    Authors: Shi-Yao Wei, Bei Feng, Min Bi, Hai-Ying Guo, Shang-Wei Ning and Rui Cui
    Citation: BMC Medical Genomics 2022 15:263
  26. The role of adiponectin (ADIPOQ) in Alzheimer’s disease (AD) has been documented, however, demonstrating controversial results. In this study, we investigated blood serum ADIPOQ levels, methylation of the adip...

    Authors: Aiym Kaiyrlykyzy, Bauyrzhan Umbayev, Abdul-Razak Masoud, Aida Baibulatova, Andrey Tsoy, Farkhad Olzhayev, Dinara Alzhanova, Gulnaz Zholdasbekova, Kairat Davletov, Ainur Akilzhanova and Sholpan Askarova
    Citation: BMC Medical Genomics 2022 15:262
  27. Hypoxia will trigger a series of immunosuppressive process in tumor microenvironment, leading to the progression in gastric cancer (GC). This research aims to establish a prognostic model made up of hypoxia-ri...

    Authors: Kena Zhou, Congbo Cai, Guanjun Ding, Yi He and Di Hu
    Citation: BMC Medical Genomics 2022 15:261
  28. Among the most lethal cancers, pancreatic adenocarcinoma (PAAD) is an essential component of digestive system malignancies that still lacks effective diagnosis and treatment methods. As exosomes and competing ...

    Authors: Shanshan Wang, Lijun Xu, Kangle Zhu, Huixia Zhu, Dan Zhang, Chongyu Wang and Qingqing Wang
    Citation: BMC Medical Genomics 2022 15:260
  29. OSBPL3 is overexpressed in a variety of malignancies and is closely associated with tumor growth and metastasis. However, its expression and function in colorectal cancer (CRC) are unclear. We aimed to investi...

    Authors: Min Zhang, Lei Meng, Zhaoxuan Zhang, Jing Wu, Xi Chen, Yuejing Wang and Jie He
    Citation: BMC Medical Genomics 2022 15:259
  30. Caveolin-1 (CAV-1) in adipocyte tissue and other body parts possesses numerous biological functions. In the present study, we sought to investigate the interaction between CAV-1 polymorphism and dietary fat qu...

    Authors: Rasool Ghaffarian-Ensaf, Farideh Shiraseb, Atieh Mirzababaei, Cain C. T. Clark and Khadijeh Mirzaei
    Citation: BMC Medical Genomics 2022 15:258
  31. Most prostate cancer patients die from metastasis and lack accurate efficacious biomarkers to monitor the disease behavior, optimize treatment and assess prognosis. Herein, we aimed to identify meaningful lncR...

    Authors: Miao Liu, Man-Yun Chen, Jia-Meng Huang, Qian Liu, Lin Wang, Rong Liu, Nian Yang, Wei-Hua Huang and Wei Zhang
    Citation: BMC Medical Genomics 2022 15:256
  32. Neanderthal introgressed DNA has been linked to different normal and disease traits including immunity and metabolism—two important functions that are altered in liver cancer. However, there is limited underst...

    Authors: Angela M. Taravella Oill, Kenneth H. Buetow and Melissa A. Wilson
    Citation: BMC Medical Genomics 2022 15:255
  33. Acetylation is a reversible epigenetic process, playing an important role in the initiation and progression of malignant tumors. However, the prognosis value of acetylation-related genes in the early-stage lun...

    Authors: Haiqiang Wang, Xiyan Lu and Jiakuan Chen
    Citation: BMC Medical Genomics 2022 15:254
  34. About 20–30% of patients with schizophrenia develop tardive dyskinesia (TD). Oxidative stress is one potential causes of TD. CYP2E1 is considered as an oxidative stress-related gene, however, no study has been re...

    Authors: Ping Zhang, Yanli Li, Kesheng Wang, Junchao Huang, Brenda Bin Su, Chun Xu, Zhiren Wang, Shuping Tan, Fude Yang and Yunlong Tan
    Citation: BMC Medical Genomics 2022 15:253
  35. Asthenozoospermia is a troublesome disease experienced by men in their reproductive years, but its exact etiology remains unclear. To address this problem, this study aims to identify the hub genes and crucial...

    Authors: Ci Zou, Shen Xu, Hao Geng, Enlai Li, Wei Sun and Dexin Yu
    Citation: BMC Medical Genomics 2022 15:252
  36. Hereditary tyrosinemia type 1 (HT1; OMIM# 276700) is a genetic metabolism disorder caused by disease-causing variants in the fumarylacetoacetate hydrolase (FAH) gene encoding the last enzyme of the tyrosine catab...

    Authors: Jiao Chen, Junhui Sun, Xuefang Li and Mengmeng Du
    Citation: BMC Medical Genomics 2022 15:251
  37. The incidence of hereditary spherocytosis (HS) is approximately 1:2000 in the western population, while it is much lower in the Chinese population. It is difficult to make a definite diagnosis due to the varia...

    Authors: Jie Li, Xiaozi Wang, Na Zheng, Xiaoning Wang, Yan Liu and Liying Xue
    Citation: BMC Medical Genomics 2022 15:250
  38. The current study set out to identify the miRNA-mRNA regulatory networks that influence the radiosensitivity in esophageal cancer based on the The Cancer Genome Atlas (TCGA) and the Gene Expression Omnibus (GE...

    Authors: Hongmin Chen, Xiaoxiao Shi, Li Ren, Hongyu Zhuo, Li Zeng, Qing Qin, Yuming Wan, Wangmu Sangdan and Lin Zhou
    Citation: BMC Medical Genomics 2022 15:249
  39. The purpose of this study was to investigate the association of PNPLA3 single nucleotide polymorphisms (SNPs) (rs738409 C > G, rs3747207 G > A, rs4823173 G > A, and rs2896019 T > G) with hepatocellular carcinoma ...

    Authors: Dongwei Gong, Shizong Li, Zhiwei Yu, Kaiqiong Wang, Xin Qiao and Changxiong Wu
    Citation: BMC Medical Genomics 2022 15:248
  40. Numerous studies have revealed aberrant DNA methylation in esophageal squamous cell carcinoma (ESCC). However, they often focused on the partial genome, which resulted in an inadequate understanding of the sha...

    Authors: Qiuning Yu, Namei Xia, Yanteng Zhao, Huifang Jin, Renyin Chen, Fanglei Ye, Liyinghui Chen, Ying Xie, Kangkang Wan, Jun Zhou, Dihan Zhou and Xianping Lv
    Citation: BMC Medical Genomics 2022 15:247
  41. CYP4 subfamily V member 2 (CYP4V2) polymorphisms are related to venous thromboembolism. However, the influence of CYP4V2 polymorphisms on the susceptibility to ischemic stroke (IS) remains undetermined.

    Authors: Faqing Long, Desheng Wang, Qingjie Su, Yuhui Zhang, Jianhong Li, Shiliang Xia, Hailun Wang, Yongping Wu and Qiumin Qu
    Citation: BMC Medical Genomics 2022 15:246
  42. More and more evidence has established the crucial roles of the innate and adaptive immune systems in driving atherosclerosis-associated chronic inflammation in arterial blood vessels. Thus, the goal of this r...

    Authors: Ruoyu Dong, Guangwei Jiang, Yunjie Tian and Xiaoming Shi
    Citation: BMC Medical Genomics 2022 15:245

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