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  1. 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
  2. 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
  3. 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
  4. 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
  5. 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
  6. 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
  7. 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
  8. 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
  9. 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
  10. 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
  11. 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
  12. 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
  13. 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
  14. 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
  15. 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

  16. 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
  17. 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
  18. 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
  19. 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
  20. 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
  21. 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
  22. 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
  23. 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
  24. 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

  25. 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
  26. 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
  27. 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
  28. 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
  29. We conducted an investigation into the clinical and molecular characteristics of Arrhythmogenic left ventricular cardiomyopathy (ALVC) caused by a novel likely pathogenic mutation in an Iranian pedigree with s...

    Authors: Amir Azimi, Maryam Pourirahim, Golnaz Houshmand, Sara Adimi, Majid Maleki and Samira Kalayinia
    Citation: BMC Medical Genomics 2023 16:266
  30. The impact of inflammatory response on tumor development and therapeutic response is of significant importance in clear cell renal cell carcinoma (ccRCC). The customization of specialized prognostication appro...

    Authors: Weimin Zhong, Huijing Chen, Jiayi Yang, Chaoqun Huang, Yao Lin and Jiyi Huang
    Citation: BMC Medical Genomics 2023 16:265
  31. Tumor Metabolism is strongly correlated with prognosis. Nevertheless, the prognostic and therapeutic value of metabolic-associated genes in BCa patients has not been fully elucidated. First, in this study, met...

    Authors: Chong Shen, Yuxin Bi, Wang Chai, Zhe Zhang, Shaobo Yang, Yuejiao Liu, Zhouliang Wu, Fei Peng, Zhenqian Fan and Hailong Hu
    Citation: BMC Medical Genomics 2023 16:264
  32. Pancreatic cancer (PC) is one of the most aggressive abdominal malignancies with a poor prognosis and it is urgent to find effective biomarkers for prediction. Although BICC1 expression is related to the survi...

    Authors: Feilong Meng, Shuai Hua, Xuedong Chen, Nanfeng Meng and Ting Lan
    Citation: BMC Medical Genomics 2023 16:263
  33. Whole-exome sequencing (WES) significantly improves the diagnosis of the etiology of fetal structural anomalies. This study aims to evaluate the diagnostic value of prenatal WES and to investigate the pathogen...

    Authors: Yayun Qin, Yanyi Yao, Nian Liu, Bo Wang, Lijun Liu, Hui Li, Tangxinzi Gao, Runhong Xu, Xiaoyan Wang, Fanglian Zhang and Jieping Song
    Citation: BMC Medical Genomics 2023 16:262
  34. Endometrial cancer (EC) is one of the worldwide gynecological malignancies. Endoplasmic reticulum (ER) stress is the cellular homeostasis disturbance that participates in cancer progression. However, the mecha...

    Authors: Tang ansu Zhang, Qian Zhang, Jun Zhang, Rong Zhao, Rui Shi, Sitian Wei, Shuangge Liu, Qi Zhang and Hongbo Wang
    Citation: BMC Medical Genomics 2023 16:261
  35. More than 200 asthma-associated genetic variants have been identified in genome-wide association studies (GWASs). Expression quantitative trait loci (eQTL) data resources can help identify causal genes of the ...

    Authors: Dong Jun Kim, Ji Eun Lim, Hae-Un Jung, Ju Yeon Chung, Eun Ju Baek, Hyein Jung, Shin Young Kwon, Han Kyul Kim, Ji-One Kang, Kyungtaek Park, Sungho Won, Tae-Bum Kim and Bermseok Oh
    Citation: BMC Medical Genomics 2023 16:259
  36. The role of the basal metabolic rate (BMR) in osteoarthritis (OA) remains unclear, as previous retrospective studies have produced inconsistent results. Therefore, we performed a Mendelian randomization (MR) s...

    Authors: Jingyu Zhou, Peng Wei, Feng Yi, Shilang Xiong, Min Liu, Hanrui Xi, Min Ouyang, Yayun Liu, Jingtang Li and Long Xiong
    Citation: BMC Medical Genomics 2023 16:258
  37. Bisulfite sequencing has long been considered the gold standard for measuring DNA methylation at single CpG resolution. However, in recent years several new approaches like nanopore sequencing have been develo...

    Authors: Sara Gombert, Kirsten Jahn, Hansi Pathak, Alexandra Burkert, Gunnar Schmidt, Lutz Wiehlmann, Colin Davenport, Björn Brändl, Franz-Josef Müller, Andreas Leffler, Maximilian Deest and Helge Frieling
    Citation: BMC Medical Genomics 2023 16:257
  38. Ichthyoses are a heterogeneous group of cornification disorders. The most common form of ichthyoses is ichthyosis vulgaris (IV) ([OMIM] #146,700), which can be inherited as autosomal semi-dominant mutation in ...

    Authors: Omar Mohammed Alakloby, Fatimah Almuqarrab, Johannes Zschocke, Mathias Schmuth, Adnan Abdulkareem, Kholood Alnutaifi, Francis Borgio, Robert Gruber and Hans Christian Hennies
    Citation: BMC Medical Genomics 2023 16:256
  39. Renal allograft fibrosis is one of characteristic causes of long-term renal function loss. The purpose of our study is to investigate the association between fibrosis-related genes single nucleotide polymorphi...

    Authors: Yu Yin, Han Zhang, Li Sun, Qianguang Han, Ming Zheng, Hao Chen, Shuang Fei, Ruoyun Tan, Xiaobing Ju, Zijie Wang and Min Gu
    Citation: BMC Medical Genomics 2023 16:255
  40. Oculopharyngodistal myopathy (OPDM) is an autosomal dominant adult-onset degenerative muscle disorder characterized by ptosis, ophthalmoplegia and weakness of the facial, pharyngeal and limb muscles. Trinucleo...

    Authors: Xinzhuang Yang, Dingding Zhang, Si Shen, Pidong Li, Mengjie Li, Jingwen Niu, Dongrui Ma, Dan Xu, Shuangjie Li, Xueyu Guo, Zhen Wang, Yanhuan Zhao, Haitao Ren, Chao Ling, Yang Wang, Yu Fan…
    Citation: BMC Medical Genomics 2023 16:253
  41. Previous studies have reported the role of genes in different metabolic processes in the human body, and any variation in gene polymorphisms could lead to disturbances in these processes and different diseases.

    Authors: Hosam M. Ahmad, Zaki M. Zaki, Asmaa S. Mohamed and Amr E. Ahmed
    Citation: BMC Medical Genomics 2023 16:252
  42. Myocardial ischemia reperfusion injury (MIRI), the tissue damage which is caused by the returning of blood supply to tissue after a period of ischemia, greatly reduces the therapeutic effect of treatment of my...

    Authors: Ning Ma, Hao Xu, Weihua Zhang, Xiaoke Sun, Ruiming Guo, Donghai Liu, Liang Zhang, Yang Liu, Jian Zhang, Chenhui Qiao, Dong Chen, Ailing Luo and Jingyun Bai
    Citation: BMC Medical Genomics 2023 16:251
  43. Whether the positive associations of blood lipids with psychiatric disorders are causal is uncertain. We conducted this two-sample Mendelian randomization (MR) analysis to comprehensively investigate associati...

    Authors: Bozhi Li, Yue Qu, Zhixin Fan, Xiayu Gong, Hanfang Xu, Lili Wu and Can Yan
    Citation: BMC Medical Genomics 2023 16:250
  44. Efferocytosis is a biological process in which phagocytes remove apoptotic cells and vesicles from tissues. This process is initiated by the release of inflammatory mediators from apoptotic cells and plays a c...

    Authors: Songyun Zhao, Qi Wang, Yuankun Liu, Pengpeng Zhang, Wei Ji, Jiaheng Xie and Chao Cheng
    Citation: BMC Medical Genomics 2023 16:248

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