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  1. Glioma cells have increased intake and metabolism of methionine, which can be monitored with 11 C-L-methionine. However, a short half-life of 11 C (~ 20 min) limits its application in clinical practice. It is ...

    Authors: Sujin Zhou, Xianan Zhao, Shiwei Zhang, Xue Tian, Xuepeng Wang, Yunping Mu, Fanghong Li, Allan Z. Zhao and Zhenggang Zhao
    Citation: BMC Medical Genomics 2023 16:317
  2. Distal chromosome 16 duplication syndrome (also known as 16q partial trisomy) is a very rare genetic disorder recently described in few clinical reports. 16q trisomy is generally associated with a multisystemi...

    Authors: Antonino Moschella, Anna Paola Capra, Domenico Corica, Giorgia Pepe, Silvia Di Tommaso, Ester Sallicandro, Malgorzata G. Wasniewska, Silvana Briuglia and Tommaso Aversa
    Citation: BMC Medical Genomics 2023 16:315
  3. N6-methyladenosine (m6A) mRNA modification plays a critical role in various human biological processes. However, there has been no study reported to elucidate its role in hepatic ischemia-reperfusion injury (IRI)...

    Authors: Yixi Zhang, Can Qi, Yiwen Guo, Xuefeng Li and Zebin Zhu
    Citation: BMC Medical Genomics 2023 16:314
  4. Diabetic foot ulcers (DFU) are among the fastest-growing diseases worldwide. Recent evidence has emphasized the critical role of microRNA (miRNA)-mRNA networks in various chronic wounds, including DFU. In this...

    Authors: Yuanyuan Xu, Jianchang Xu, Sirong Chen, Anbang Zhou, Guangjing Huang, Shidao Huang, Dianbo Yu and Biaoliang Wu
    Citation: BMC Medical Genomics 2023 16:313
  5. Friedreich ataxia is the most common inherited ataxia in Europe and is mainly caused by biallelic pathogenic expansions of the GAA trinucleotide repeat in intron 1 of the FXN gene that lead to a decrease in frata...

    Authors: Cinthia Aguilera, Anna Esteve-Garcia, Carlos Casasnovas, Valentina Vélez-Santamaria, Laura Rausell, Pablo Gargallo, Javier Garcia-Planells, Pedro Alía, Núria Llecha and Ariadna Padró-Miquel
    Citation: BMC Medical Genomics 2023 16:312
  6. Gastric cancer (GC) is one of the most diagnosed cancers worldwide. GC is a heterogeneous disease whose pathogenesis has not been entirely understood. Besides, the GC prognosis for patients remains poor. Hence...

    Authors: Fatemeh Abdolahi, Ali Shahraki, Roghayeh Sheervalilou and Sedigheh Sadat Mortazavi
    Citation: BMC Medical Genomics 2023 16:311
  7. Diminished ovarian reserve (DOR) is defined as a reduction in ovarian reserve and oocyte quality. The pathophysiology of DOR has not been completely explained as of yet. Scholars have uncovered a large number ...

    Authors: Kai-Yuan Shen, Xiao-Li Dai, Shun Li, Fen Huang, Li-Qun Chen, Ping Luo and Xiao-Li Qu
    Citation: BMC Medical Genomics 2023 16:308
  8. ATP7B is a copper-transporting protein that contributes to the chemo-resistance of human cancer cells. It remains unclear what the molecular mechanisms behind ATP7B are in cancer, as well as its role in human ...

    Authors: Zhanzhan Zhang, Aobo Zhang, Yunpeng Shi, Zijun Zhao and Zongmao Zhao
    Citation: BMC Medical Genomics 2023 16:307
  9. Altered interleukin (IL)-18 levels are associated with immune-mediated inflammatory diseases (IMIDs), but no studies have investigated their causal relationship. This study aimed to examine the causal associat...

    Authors: Jialing Wu, Xi Zhang, Dongze Wu, Ou Jin and Jieruo Gu
    Citation: BMC Medical Genomics 2023 16:306
  10. In children with CKD, Protein Energy Wasting (PEW) is common, which affects the outcome of children and is an important cause of poor prognosis. We are aiming to explore the pathogenesis of muscle wasting in C...

    Authors: Liang Ying, Jiang Yeping, Wang Hui, Zhou Nan, FuQian and Shen Ying
    Citation: BMC Medical Genomics 2023 16:304
  11. In 2018, our center started a program to offer genetic diagnosis to patients with kidney and liver monogenic rare conditions, potentially eligible for organ transplantation. We exploited a clinical exome seque...

    Authors: Claudia Saglia, Valeria Bracciamà, Luca Trotta, Fiorenza Mioli, Angelo Corso Faini, Giulia Margherita Brach Del Prever, Silvia Kalantari, Maria Luca, Carmelo Maria Romeo, Caterina Scolari, Licia Peruzzi, Pier Luigi Calvo, Alessandro Mussa, Roberta Fenoglio, Dario Roccatello, Claudio Alberti…
    Citation: BMC Medical Genomics 2023 16:303
  12. Bardet-Biedl syndrome (BBS) is an autosomal recessive, genetically heterogeneous, pleiotropic disorder caused by variants in genes involved in the function of the primary cilium. We have harnessed genomics to ...

    Authors: Aziz Belkadi, Gaurav Thareja, Adnan Khan, Nisha Stephan, Shaza Zaghlool, Anna Halama, Ayeda Abdulsalam Ahmed, Yasmin A. Mohamoud, Joel Malek, Karsten Suhre and Rayaz A. Malik
    Citation: BMC Medical Genomics 2023 16:301
  13. Neoadjuvant chemotherapy (NAC) is a well-established treatment modality for locally advanced breast cancer (BC). However, it can also result in severe toxicities while controlling tumors...

    Authors: Xiaojun Zhang, Ran Feng, Junbin Guo, Lihui Pan, Yarong Yao and Jinnan Gao
    Citation: BMC Medical Genomics 2023 16:300
  14. With the advancement of molecular technology, fetal talipes equinovarus (TE) is believed to be not only associated with chromosome aneuploidy, but also related to chromosomal microdeletion and microduplication...

    Authors: Xiaorui Xie, Baojia Huang, Linjuan Su, Meiying Cai, Yuqin Chen, Xiaoqing Wu and Liangpu Xu
    Citation: BMC Medical Genomics 2023 16:298
  15. Cerebral stroke (CS) is the leading cause of death in China, and a complex disease caused by both alterable risk factors and genetic factors. This study intended to investigate the association of MMP3, MMP14, and...

    Authors: Yanling Yin, Yu Zhang, Xiaobo Zhang, Qi Zhang, Jiachen Wang, Tian Yang, Chen Liang, Wu Li, Jie Liu, Xiaojuan Ma, Jinwei Duan, Wenzhen Shi and Ye Tian
    Citation: BMC Medical Genomics 2023 16:297
  16. The Interferon-induced protein with tetratricopeptide repeat (IFIT) family, IFIT1/2/3/5, play an important role in different tumors progression. However, the prognosis significance and biological role of IFIT ...

    Authors: YiFan Zhao, Yi Zhang, WenYi Lu, Rui Sun, RuiTing Guo, XinPing Cao, Xingzhong Liu, Cuicui Lyu and MingFeng Zhao
    Citation: BMC Medical Genomics 2023 16:296
  17. Histone deacetylase (HDAC) inhibitors have enormous therapeutic potential as effective epigenetic regulators, and now with the focus on the selective HDAC6 inhibitor in ongoing clinical trials, more advantages...

    Authors: Jingjing Pu, Ting Liu, Amit Sharma and Ingo G. H. Schmidt-Wolf
    Citation: BMC Medical Genomics 2023 16:295
  18. Low-pass genome sequencing (LP GS) has shown distinct advantages over traditional methods for the detection of mosaicism. However, no study has systematically evaluated the accuracy of LP GS in the detection o...

    Authors: Yanqiu Liu, Shengju Hao, Xueqin Guo, Linlin Fan, Zhihong Qiao, Yaoshen Wang, Xiaoli Wang, Jianfen man, Lina Wang, Xiaoming Wei, Huanhuan Peng, Zhiyu Peng, Yan Sun and Lijie Song
    Citation: BMC Medical Genomics 2023 16:294
  19. This study reported the first case of Kohlschütter-Tönz syndrome (KTS) in China and reviewed the literature of the reported cases.

    Authors: Linxue Meng, Dishu Huang, Lingling Xie, Xiaojie Song, Hanyu Luo, Jianxiong Gui, Ran Ding, Xiaofang Zhang and Li Jiang
    Citation: BMC Medical Genomics 2023 16:292
  20. Biallelic loss-of-function variants in WWOX cause WWOX-related epileptic encephalopathy (WOREE syndrome), which has been reported in 60 affected individuals to date. In this study, we report on an affected ind...

    Authors: Xing-sheng Dong, Xiao-jun Wen, Sheng Zhang, De-gang Wang, Yi Xiong and Zhi-ming Li
    Citation: BMC Medical Genomics 2023 16:291
  21. Individuals diagnosed with Fanconi anemia (FA), an uncommon disorder characterized by chromosomal instability affecting the FA signaling pathway, exhibit heightened vulnerability to the onset of myelodysplasti...

    Authors: Lixian Chang, Li Zhang, Beibei Zhao, Xuelian Cheng, Yang Wan, Ranran Zhang, Weiping Yuan, Xingjie Gao and Xiaofan Zhu
    Citation: BMC Medical Genomics 2023 16:290
  22. Small bowel cancer (SBC) is a very rare solid malignancy. Consequently, compared with other malignant gastrointestinal tumors, our knowledge regarding SBC, specifically its molecular attributes, remains limite...

    Authors: Chengmin Shi, Junrui Ma, Tong Zhang, Yanqiang Shi, Weiming Duan, Depei Huang, Hushan Zhang and Yujian Zeng
    Citation: BMC Medical Genomics 2023 16:289
  23. Chronic inflammation causes bone destruction in middle ear cholesteatomas (MECs). However, the causes of their neoplastic features remain unknown. The present study demonstrated for the first time that neoplas...

    Authors: Chisei Satoh, Koh-ichiro Yoshiura, Hiroyuki Mishima, Haruo Yoshida, Haruo Takahashi and Yoshihiko Kumai
    Citation: BMC Medical Genomics 2023 16:288
  24. Complete trisomy 22 is a rare chromosomal condition that is incompatible with life. However, mosaic trisomy 22 usually has prolonged survival compatibility and may present a good prognosis depending on the tis...

    Authors: Aline Nardelli, Larissa Valéria Laskoski, Andressa Fernanda Luiz, Maruhen Amir Datsch Silveira and Luciana Paula Grégio d’Arce
    Citation: BMC Medical Genomics 2023 16:286
  25. Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common autosomal dominant genetic diseases. Whole exome sequencing (WES) is a routine tool for diagnostic confirmation of genetic disease...

    Authors: Peiwen Xu, Lijuan Wang, Jing Li, Sexin Huang, Ming Gao, Ranran Kang, Jie Li, Hongqiang Xie, Xiaowei Liu, Junhao Yan, Xuan Gao and Yuan Gao
    Citation: BMC Medical Genomics 2023 16:285
  26. Deep vein thrombosis (DVT) is the formation of a blood clot in a deep vein. DVT can lead to a venous thromboembolism (VTE), the combined term for DVT and pulmonary embolism, a leading cause of death and disabi...

    Authors: Andrei-Emil Constantinescu, Caroline J. Bull, Lucy J. Goudswaard, Jie Zheng, Benjamin Elsworth, Nicholas J. Timpson, Samantha F. Moore, Ingeborg Hers and Emma E. Vincent
    Citation: BMC Medical Genomics 2023 16:284
  27. 1P36 deletion syndrome is recognized as the most common terminal microdeletion syndrome in humans, characterized by early developmental delay and consequent intellectual disability, seizure disorder, and disti...

    Authors: Huanhuan Yang, Jun Huang, Hao Zheng, Yunfan Zhang, Yuanzhen Zhang, Wei Liu, Jinrong Wu, Xiaobin Chen, Jinfeng Lin, Yanna Ni and Xiaojing Nie
    Citation: BMC Medical Genomics 2023 16:282
  28. Elevated triglyceride (TG) levels are a heritable and modifiable risk factor for cardiovascular disease and have well-established associations with common genetic variation captured in a polygenic risk score (...

    Authors: Shengjie Ying, Tracy Heung, Bhooma Thiruvahindrapuram, Worrawat Engchuan, Yue Yin, Christina Blagojevic, Zhaolei Zhang, Robert A. Hegele, Ryan K. C. Yuen and Anne S. Bassett
    Citation: BMC Medical Genomics 2023 16:281

    The Correction to this article has been published in BMC Medical Genomics 2023 16:302

  29. Trabecular meshwork (TM) dysfunction-induced elevation of intraocular pressure has been identified as the main risk factor of irreversible optic nerve injury in Primary open‑angle glaucoma (POAG). Increasing e...

    Authors: Xiaoyu Zhou, Feng Zhang, Xinyue Zhang, Dengming Zhou, Yang Zhao, Baihua Chen and Xuanchu Duan
    Citation: BMC Medical Genomics 2023 16:280
  30. Retinoblastoma (RB) a tumour affecting those under 5 years, has a prevalence of 1 in 20,000, with around twenty new diagnoses per year in Sri Lanka. Unilateral and bilateral RB presents around 24 and 15 months...

    Authors: Nirosha Kugalingam, Deepthi De Silva, Hiranya Abeysekera, Sriyani Nanayakkara, Shamala Tirimanne, Dinali Ranaweera, Prashanth Suravajhala and Vishvanath Chandrasekharan
    Citation: BMC Medical Genomics 2023 16:279
  31. Perrault Syndrome (PRLTS) is a rare, autosomal recessive disorder that presents with bilateral sensorineural hearing loss in all patients and gonadal dysfunction in females. It has been linked to variants in CLPP

    Authors: Hannah E. Munson, Lenika De Simone, Abigail Schwaede, Avanti Bhatia, Divakar S. Mithal, Nancy Young, Nancy Kuntz and Vamshi K. Rao
    Citation: BMC Medical Genomics 2023 16:278
  32. The pathogenesis of rheumatoid arthritis (RA) is an immune imbalance, in which various inflammatory immune cells and pro-inflammatory factors are involved. Interleukin-17 (IL-17), a potent pro-inflammatory cyt...

    Authors: Rong Zhao, Yi-wen Zhang, Jia-yuan Yao, Jun Qiao, Shan Song, Sheng-xiao Zhang, Cai-hong Wang and Xiao-feng Li
    Citation: BMC Medical Genomics 2023 16:277
  33. We aim to investigate the correlation between gene polymorphisms and cisplatin chemotherapy-induced nausea and vomiting (CINV), which was prevented by olanzapine or aprepitant triple antiemetic regimen.

    Authors: Yilan Jin, Feng Chen, Juan Zhao, Ying Jiang, Gaowa Jin, Zewei Zhang and Quanfu Li
    Citation: BMC Medical Genomics 2023 16:276
  34. The relationship between aging and osteoporosis is well established. However, the relationship between the body's physiological age, i.e. epigenetic age, and osteoporosis is not known. Our goal is to analyze t...

    Authors: Xinyu Liang, Wei Shi, Xinglong Zhang, Ran Pang, Kai Zhang, Qian Xu, Chunlei Xu, Xin Wan, Wenhao Cui, Dong Li, Zhaohui Jiang, Zhengxuan Liu, Hui Li, Huafeng Zhang and Zhijun Li
    Citation: BMC Medical Genomics 2023 16:275
  35. Intervertebral disc cell fibrosis has been established as a contributing factor to intervertebral disc degeneration (IDD). This study aimed to identify fibrosis-related diagnostic genes for patients with IDD.

    Authors: Wei Zhao, Jinzheng Wei, Xinghua Ji, Erlong Jia, Jinhu Li and Jianzhong Huo
    Citation: BMC Medical Genomics 2023 16:274
  36. To determine the effect of different translocation characteristics on fertilization rate and blastocyst development in chromosomal translocation patients.

    Authors: Shanshan Wu, Jianrui Zhang, Yichun Guan, Bingnan Ren, Yuchao Zhang, Xinmi Liu, Kexin Wang, Mingmei Zhang and Zhen Li
    Citation: BMC Medical Genomics 2023 16:273
  37. Cell composition deconvolution (CCD) is a type of bioinformatic task to estimate the cell fractions from bulk gene expression profiles, such as RNA-seq. Many CCD models were developed to perform linear regress...

    Authors: Yen-Jung Chiu, Chung-En Ni and Yen-Hua Huang
    Citation: BMC Medical Genomics 2023 16(Suppl 2):272

    This article is part of a Supplement: Volume 16 Supplement 2

  38. Cardiomyopathy, which is a genetically and phenotypically heterogeneous pathological condition, is associated with increased morbidity and mortality. Genetic diagnosis of cardiomyopathy enables accurate phenot...

    Authors: Mi Jin Kim, Seulgi Cha, Jae Suk Baek, Jeong Jin Yu, Go Hun Seo, Minji Kang, Hyo-Sang Do, Sang Eun Lee and Beom Hee Lee
    Citation: BMC Medical Genomics 2023 16:270
  39. Schistosoma japonicum infection is an important public health problem and the S. japonicum infection is associated with a variety of diseases, including colorectal cancer. We collected the paraffin samples of CRC...

    Authors: Shan Li, Xuguang Sun, Ting Li, Yanqing Shi, Binjie Xu, Yuyong Deng and Sifan Wang
    Citation: BMC Medical Genomics 2023 16:269
  40. During gestation, stressors to the fetus, including viral exposure or maternal psychological distress, can fundamentally alter the neonatal epigenome, and may be associated with long-term impaired developmenta...

    Authors: Kristen Kocher, Surajit Bhattacharya, Nickie Niforatos-Andescavage, Miguel Almalvez, Diedtra Henderson, Eric Vilain, Catherine Limperopoulos and Emmanuèle C. Délot
    Citation: BMC Medical Genomics 2023 16:268
  41. Our previous study illustrated the predictive value of serum gamma-glutamyl transpeptidase (GGT) for neoadjuvant chemotherapy (NAC) sensitivity in breast cancer patients. In this study we aim to determine whet...

    Authors: Lu Sun, Ziping Wu, Yanping Lin, Shuguang Xu, Yumei Ye, Wenjin Yin, Liheng Zhou and Jingsong Lu
    Citation: BMC Medical Genomics 2023 16:267

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