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  1. 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
  2. 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
  3. 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
  4. 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
  5. 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
  6. 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
  7. 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
  8. 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
  9. 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
  10. 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
  11. 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
  12. 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
  13. 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
  14. 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
  15. 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
  16. 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
  17. 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
  18. 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
  19. 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
  20. 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
  21. 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
  22. 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
  23. 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
  24. 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
  25. 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
  26. 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
  27. 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
  28. 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
  29. Skin cutaneous melanoma (SKCM) is an extremely malignant tumor that is associated with a poor prognosis. LSM2 has been found to be related to different types of tumors; however, its role in SKCM is poorly defi...

    Authors: Xiaofang Sun, Jianping Zhang, Jiayuan Hu, Qingdong Han and Zili Ge
    Citation: BMC Medical Genomics 2023 16:129
  30. Dilated cardiomyopathy type-2D (CMD2D) is a rare heart disease causing a severe cardiomyopathy with neonatal onset and rapid progression to cardiac decompensation and death in untreated patients. CMD2D is an a...

    Authors: Qi Yang, Qiang Zhang, Zailong Qin, Shujie Zhang, Sheng Yi, Shang Yi, Qinle Zhang and Jingsi Luo
    Citation: BMC Medical Genomics 2023 16:127
  31. Hereditary genetic mutations causing predisposition to colorectal cancer are accountable for approximately 30% of all colorectal cancer cases. However, only a small fraction of these are high penetrant mutatio...

    Authors: Ashish Kumar Singh, Bente Talseth-Palmer, Alexandre Xavier, Rodney J. Scott, Finn Drabløs and Wenche Sjursen
    Citation: BMC Medical Genomics 2023 16:126
  32. Although observational studies have established some socioeconomic traits to be independent risk factors for pelvic organ prolapse (POP), they can not infer causality since they are easily biased by confoundin...

    Authors: Wei Zhang, Jing Ge, Zhaohui Qu, Wenjuan Wu, Hua Lei, Huiling Pan and Honggu Chen
    Citation: BMC Medical Genomics 2023 16:125
  33. DNA methylation played a crucial role in the pathogenesis of immune thrombocytopenia (ITP). However, genome-wide DNA methylation analysis has not been applied thus far. The present study aimed to provide the f...

    Authors: Hanzhi Du, Qinghua Tang, Jian Yang, Bin Yan, Lihong Yang and Mengchang Wang
    Citation: BMC Medical Genomics 2023 16:124
  34. Glycosylation involved in various biological function, aberrant glycosylation plays an important role in cancer development and progression. Glycosyltransferase 8 domain containing 1 (GLT8D1) and GLT8D2, as me...

    Authors: Huimei Xu, Ke Huang, Yimin Lin, Hang Gong, Xueni Ma and Dekui Zhang
    Citation: BMC Medical Genomics 2023 16:123

    The Correction to this article has been published in BMC Medical Genomics 2023 16:136

  35. Some bladder-related diseases, such as bladder urinary tract infection (UTI) and bladder cancer (BCa), have significant six differences in incidence and prognosis. However, the molecular mechanisms underlying ...

    Authors: Ribao Wu, Xiahong Teng, Qiong Song, Shuai Chen, Lihui Wang, Jinling Liao and Chunlin Zou
    Citation: BMC Medical Genomics 2023 16:122
  36. At present, Multiplex ligation-dependent probe amplification (MLPA) and exome sequencing are common gene detection methods in patients with Duchenne muscular dystrophy or Becker muscular dystrophy (DMD/BMD), b...

    Authors: Feng Tang, Yuanyuan Xiao, Cong Zhou, Haixia Zhang, Jing Wang and Yang Zeng
    Citation: BMC Medical Genomics 2023 16:121
  37. Congenital insensitivity to pain (CIP) is a rare autosomal recessive disorder characterized primarily by an inability to perceive physical pain from birth, resulting in the accumulation of bruising, inflammati...

    Authors: Boushra Khaled, Mahmoud Alzahayqa, Ahmad Jaffal, Husam Sallam, Rua’a Thawabta, Mamoun Mansour, Akram Alian and Zaidoun Salah
    Citation: BMC Medical Genomics 2023 16:120
  38. The genetic etiology of congenital pulmonary stenosis (PS) in fetuses remains inadequately studied. We used karyotype analysis and chromosomal microarray analysis (CMA) to investigate the genetic aberrations a...

    Authors: Meiying Cai, Nan Guo, Meimei Fu, Yuqing Chen, Bin Liang, Yanting Que, Qingqiang Ji, Hailong Huang, Liangpu Xu and Na Lin
    Citation: BMC Medical Genomics 2023 16:119
  39. TSC22D domain family genes, including TSC22D1-4, play a principal role in cancer progression. However, their expression profiles and prognostic significance in adult acute myeloid leukemia (AML) remain unknown.

    Authors: XiaoQiang Xu, Rui Sun, YuanZhang Li, JiaXi Wang, Meng Zhang, Xia Xiong, DanNi Xie, Xin Jin and MingFeng Zhao
    Citation: BMC Medical Genomics 2023 16:117
  40. Dysregulated lipid metabolism enhances the development and advancement of many cancers, including osteosarcoma (OS); however, the underlying mechanisms are still largely unknown. Therefore, this investigation ...

    Authors: Zhifang Tang, Hanzhen Feng, Longjun Shu, Minzheng Guo, Baochuang Qi, Luqiao Pu, Hongxin Shi, Junxiao Ren and Chuan Li
    Citation: BMC Medical Genomics 2023 16:115

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