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  1. Association between glucose and inflammatory bowel disease (IBD) was found in previous observational studies and in cohort studies. However, it is not clear whether these associations reflect causality. Thus, ...

    Authors: JiePeng Cen, Kequan Chen, Ziyan Ni, QiJie Dai, Weipeng Lu, Heqing Tao and Liang Peng
    Citation: BMC Medical Genomics 2024 17:159
  2. To investigate the clinical features, ALDH5A1 gene variations, treatment, and prognosis of patients with succinic semialdehyde dehydrogenase (SSADH) deficiency.

    Authors: Hui Dong, Xue Ma, Zhehui Chen, Huiting Zhang, Jinqing Song, Ying Jin, Mengqiu Li, Mei Lu, Ruxuan He, Yao Zhang and Yanling Yang
    Citation: BMC Medical Genomics 2024 17:158
  3. Primary Sclerosing Cholangitis (PSC) is a progressive cholestatic liver disease with no licensed therapies. Previous Genome Wide Association Studies (GWAS) have identified genes that correlate significantly wi...

    Authors: Jessica Leighton, David E. J. Jones, Jessica K. Dyson and Heather J. Cordell
    Citation: BMC Medical Genomics 2024 17:157
  4. Recurrent pregnancy loss (RPL) is a common pregnancy complication that brings great pain to pregnant women and their families. Genetic factors are an important cause reason of RPL. However, clinical research o...

    Authors: Jialun Pang, Fanjuan Kong, Wanglan Tang, Hui Xi, Na Ma, Xiaoqi Sheng, Ying Peng and Zhiyu Liu
    Citation: BMC Medical Genomics 2024 17:156
  5. Previous studies have implicated inherited mutations in mitochondrial DNA (mtDNA) in sensorineural hearing loss (SNHL). However, the definitive association between mitochondrial 12S rRNA (MT-RNR1) variants and he...

    Authors: Hou-Kuang Chen, Yow-Wen Hsieh, Hsing-Yu Hsu, Ting-Yuan Liu, Yu-Ting Zhang, Chia-Der Lin and Fuu-Jen Tsai
    Citation: BMC Medical Genomics 2024 17:155
  6. Anesthetic drugs may alter exosomal microRNA (miRNA) contents and mediate cancer progression and tumor microenvironment remodeling. Our study aims to explore how the anesthetics (sevoflurane and propofol) impa...

    Authors: Ning Huang, Jie Fang, Fang Du, Jichuan Zhou, Yuxin Li and Xiaoguang Zhang
    Citation: BMC Medical Genomics 2024 17:154
  7. Zinc finger E-box binding homEeobox 1 (ZEB1) and ZEB2 are two anoikis-related transcription factors. The mRNA expressions of these two genes are significantly increased in kidney renal clear cell carcinoma (KI...

    Authors: Sheng Lin, Qi Chen, Canliang Tan, Manyi Su, Ling Min, Lv Ling, Junhao Zhou and Ting Zhu
    Citation: BMC Medical Genomics 2024 17:153
  8. Mucopolysaccharidosis IVA (MPS IVA) is a lysosomal storage disease caused by biallelic variants in the N-acetylgalactosamine-6-sulfatase (GALNS) gene and is characterized by progressive and multi-system involveme...

    Authors: Mengni Yi, Pinquan Shen and Huiwen Zhang
    Citation: BMC Medical Genomics 2024 17:151
  9. Long non-coding RNAs (lncRNAs) and cancer stem cells (CSCs) are crucial for the growth, migration, recurrence, and medication resistance of tumors. However, the impact of lncRNAs related to stemness on the out...

    Authors: Mengjiao Zhang, Jiqiang Zhang, Xuemei Liang and Ming Zhang
    Citation: BMC Medical Genomics 2024 17:150
  10. Pediatric B-cell acute lymphoblastic leukemia (B-ALL) is a highly heterogeneous disease. According to large-scale RNA sequencing (RNA-seq) data, B-ALL patients can be divided into more than 10 subgroups. Howev...

    Authors: Xinyu Li, Zaoli Huang, Liwen Zhu, Weixin Lai, Yunyao Li, Han Chen, Diandian Liu, Junjiu Huang, Dunhua Zhou, Yang Li, Wenjun Weng, Honggui Xu, Luhong Xu, Zhenhua Luo and Jianpei Fang
    Citation: BMC Medical Genomics 2024 17:149
  11. Dyslipidemia, which is characterized by an unfavorable lipid profile, is a key risk factor for cardiovascular disease (CVD). Understanding the relationships between epigenetic aging and lipid levels may help g...

    Authors: Lisha Lin, Jenna Kiryakos, Farah Ammous, Scott M. Ratliff, Erin B. Ware, Jessica D. Faul, Sharon L.R. Kardia, Wei Zhao, Kira S. Birditt and Jennifer A. Smith
    Citation: BMC Medical Genomics 2024 17:146
  12. Emerging investigations have increasingly highlighted the critical role of tumor-associated macrophages (TAMs) and M2 macrophages in cancer development, progression, and metastasis, marking them as potential t...

    Authors: Lujing Shi, Hongtun Mao and Jie Ma
    Citation: BMC Medical Genomics 2024 17:145
  13. Tuberous sclerosis complex (TSC) is a rare, autosomal dominant genetic disease that arises from TSC1 or TSC2 genetic mutations. These genetic mutations can induce the development of benign tumors in any organ sys...

    Authors: Cassie Liu, Subodh M. Lele, Martin H. Goodenberger, Gwendolyn M. Reiser, Andrew J. Christiansen and James C. Padussis
    Citation: BMC Medical Genomics 2024 17:144
  14. Therapy with anti-cancer drugs remain the cornerstone of treating cancer. The effectiveness and safety of anti-cancer drugs vary significantly among individuals due to genetic factors influencing the drug resp...

    Authors: Priyanga Ranasinghe, Nirmala Sirisena, Thuwaragesh Vishnukanthan, J. N. Ariadurai, Sathsarani Thilakarathne, C. D. Nelanka Priyadarshani, D. P. Bhagya Hendalage and Vajira H. W. Dissanayake
    Citation: BMC Medical Genomics 2024 17:143
  15. Coffin-Siris syndrome (CSS) is a rare autosomal dominant inheritance disorder characterized by distinctive facial features, hypoplasia of the distal phalanx or nail of the fifth and additional digits, developm...

    Authors: Xiaoyu Huang, Huiping Li, Shangying Yang, Meijiao Ma, Yuanyuan Lian, Xueli Wu, Xiaolong Qi, Xuhui Wang, Weining Rong and Xunlun Sheng
    Citation: BMC Medical Genomics 2024 17:142
  16. The symptoms of SARS-CoV-2 infection vary widely, ranging from asymptomatic cases to severe forms marked by acute respiratory distress syndrome, multi-organ damage, and fatalities. Studies indicate a correlati...

    Authors: Rachid Noureddine, Hanâ Baba, Safaa Aqillouch, Karima Abounouh, Oumaima Laazaazia, Mohcine Elmessaoudi-Idrissi, Fatima Zohra Bahmani, Ikram Allah Tanouti, Ahd Ouladlahsen, M’hammed Sarih, Hind Dehbi and Sayeh Ezzikouri
    Citation: BMC Medical Genomics 2024 17:139
  17. This comprehensive investigation delved into the intricate causal interplay existing between cardiovascular-related plasma proteins and the susceptibility to colorectal cancer, leveraging the robust framework ...

    Authors: Chenlei Tan, Yanhua Li, Kexin Wang, Ying Lin, Yu Chen and Xuebao Zheng
    Citation: BMC Medical Genomics 2024 17:138
  18. Head and neck squamous cell carcinoma (HNSCC) is a prevalent cancer with a poor survival rate due to anatomical limitations of the head and a lack of reliable biomarkers. Cuproptosis represents a novel cellula...

    Authors: Zhongxu Xing, Yijun Xu, Xiaoyan Xu, Kaiwen Yang, Songbing Qin, Yang Jiao and Lili Wang
    Citation: BMC Medical Genomics 2024 17:137
  19. Bosma arhinia microphthalmia syndrome (BAMS; MIM603457) is a rare genetic disorder, predominantly autosomal dominant. It is a multi-system developmental disorder characterized by severe hypoplasia of the nose ...

    Authors: Jun-Lin Yang, Heng Gu, Zhuang-Zhuang Yuan, Xiao-Hui Xie, Yi-Feng Yang and Zhi-Ping Tan
    Citation: BMC Medical Genomics 2024 17:136
  20. Thoracic aortic aneurysm/dissection (TAAD) and patent ductus arteriosus (PDA) are serious autosomal-dominant diseases affecting the cardiovascular system. They are mainly caused by variants in the MYH11 gene, whi...

    Authors: Xiaojiao Wei, Yunting Ma, Bobo Xie, Chunrong Gui, Meizhen Shi, Xianda Wei, Yan Huang, Xin Fan, Qiaozhen Wei, Qingmei Huang, Li Deng, Chi Zhang, Xiaoli Deng, Baoheng Gui and Yujun Chen
    Citation: BMC Medical Genomics 2024 17:135
  21. Acute myocardial infarction (AMI) and diabetic nephropathy (DN) are common clinical co-morbidities, but they are challenging to manage and have poor prognoses. There is no research on the bioinformatics mechan...

    Authors: Bo Li, Xu Zhao, Wanrun Xie, Zhenzhen Hong, Ye Cao, Yi Zhang and Yan Ding
    Citation: BMC Medical Genomics 2024 17:134
  22. Parkinson’s disease (PD) is a progressive neurodegenerative disease with increasing prevalence. Effective diagnostic markers and therapeutic methods are still lacking. Exploring key molecular markers and mecha...

    Authors: Zhenchao Huang, En’peng Song, Zhijie Chen, Peng Yu, Weiwen Chen and Huiqin Lin
    Citation: BMC Medical Genomics 2024 17:133
  23. Polygenic risk scores (PRS) quantify an individual’s genetic predisposition for different traits and are expected to play an increasingly important role in personalized medicine. A crucial challenge in clinica...

    Authors: Christian Staerk, Hannah Klinkhammer, Tobias Wistuba, Carlo Maj and Andreas Mayr
    Citation: BMC Medical Genomics 2024 17:132
  24. Whole exome sequencing allows rapid identification of causative single nucleotide variants and short insertions/deletions in children with congenital anomalies and/or intellectual disability, which aids in acc...

    Authors: Ekaterina Tolmacheva, Anna S. Bolshakova, Jekaterina Shubina, Margarita S. Rogacheva, Alexey N. Ekimov, Julia L. Podurovskaya, Artem A. Burov, Denis V. Rebrikov, Vladimir G. Bychenko, Dmitry Yu. Trofimov and Gennady T. Sukhikh
    Citation: BMC Medical Genomics 2024 17:130
  25. The parallel rise in obesity and male infertility in modern societies necessitates the identification of susceptibility genes underlying these interconnected health issues. In our study, we conducted a compreh...

    Authors: Melika Jahangir, Majid Nazari, Emad Babakhanzadeh and Saeed Dehghan Manshadi
    Citation: BMC Medical Genomics 2024 17:128
  26. Colorectal cancer (CRC) is prone to metastasis and recurrence after surgery, which is one of the main causes for its poor treatment and prognosis. Therefore, it is essential to identify biomarkers associated w...

    Authors: Fang Qian, Qiang Li, Huidan Chang, Kai Wei, Xiaoyi Chen, Tao Huang and Yixue Li
    Citation: BMC Medical Genomics 2024 17:127
  27. Long QT syndrome (LQTS) is a cardiac channelopathy characterized by impaired myocardial repolarization that predisposes to life-threatening arrhythmias. This study aimed to elucidate the genetic basis of LQTS ...

    Authors: Erfan Kohansal, Niloofar Naderi, Amir Farjam Fazelifar, Majid Maleki and Samira Kalayinia
    Citation: BMC Medical Genomics 2024 17:126
  28. Naegleria fowleri, also known as brain-earing amoeba, causes severe and rapidly fatal CNS infection in humans called primary amebic meningoencephalitis (PAM). The DNA from the N. fowleri clinical isolate was sequ...

    Authors: Muhammad Aurongzeb, Hafiz Muhammad Talha Malik, Muhammad Jahanzaib, Syed Shah Hassan, Yasmeen Rashid, Tariq Aziz and Metab Alharbi
    Citation: BMC Medical Genomics 2024 17:125

    The Correction to this article has been published in BMC Medical Genomics 2024 17:140

  29. Glycogen storage disease (GSD) is a disease caused by excessive deposition of glycogen in tissues due to genetic disorders in glycogen metabolism. Glycogen storage disease type I (GSD-I) is also known as VonGe...

    Authors: Ao Wang, Jiamei Wu, Xiaohui Yuan, Jianping Liu and Changli Lu
    Citation: BMC Medical Genomics 2024 17:124
  30. Depression is a common chronic debilitating disease with a heavy social burden. single nucleotide polymorphisms (SNPs) can affect the function of microRNAs (miRNAs), which is in turn associated with neurologic...

    Authors: Peng Liang, Xue Yang, Rui Long, Yue Li, Ziling Wang, Pingliang Yang and Yundan Liang
    Citation: BMC Medical Genomics 2024 17:123
  31. There is increasing evidence that type 2 diabetes mellitus (T2DM) is an independent risk factor for the occur of tendinopathy. Therefore, this study is the first to explore the dynamic changes of the “gene pro...

    Authors: Kuishuai Xu, Liang Zhang, Tianrui Wang, Tengbo Yu, Xia Zhao and Yingze Zhang
    Citation: BMC Medical Genomics 2024 17:122
  32. Kidney renal papillary cell carcinoma (KIRP) is the second most prevalent malignant cancer originating from the renal epithelium. Nowadays, cancer stem cells and stemness-related genes (SRGs) are revealed to p...

    Authors: Yifan Liu, Yuntao Yao, Yu Zhang, Chengdang Xu, Tianyue Yang, Mingyu Qu, Bingnan Lu, Xu Song, Xiuwu Pan, Wang Zhou and Xingang Cui
    Citation: BMC Medical Genomics 2024 17:121
  33. Sepsis ranks among the most formidable clinical challenges, characterized by exorbitant treatment costs and substantial demands on healthcare resources. Mitochondrial dysfunction emerges as a pivotal risk fact...

    Authors: Shilin Li, Xiang Li, Sishi Jiang, Chenglin Wang and Yingchun Hu
    Citation: BMC Medical Genomics 2024 17:120
  34. Observational studies that reveal an association between periodontitis (PD) and ankylosing spondylitis (AS) exist. However, observational research is prone to reverse causality and confounding factors, which m...

    Authors: Chong Han, Dongchao Wu, Feiyan Yu, Qianqian Wang, Yang Yang, Yi Li, Rao Qin, Yue Chen, Linkun Xu and Dongning He
    Citation: BMC Medical Genomics 2024 17:118
  35. Colorectal cancer (CRC) is one of the significant global health concerns with an increase in cases. Regular screening tests are crucial for early detection as it is often asymptomatic in the initial stages. Li...

    Authors: Mehrdad Shavali, Arash Moradi, Mohammad Tahmaseb, Kamal Mohammadian and Shahla Mohammad Ganji
    Citation: BMC Medical Genomics 2024 17:117
  36. Sotos syndrome (SOTOS) is an uncommon genetic condition that manifests itself with the following distinctive features: prenatal overgrowth, facial abnormalities, and intellectual disability. This disorder is o...

    Authors: Zhuo Ren, Ling Yue, Hua-ying Hu, Xiao-lin Hou, Wen-qi Chen, Ya Tan, Zhe Dong and Jing Zhang
    Citation: BMC Medical Genomics 2024 17:116
  37. The genetic basis of type 2 diabetes (T2D) is under-investigated in the Middle East, despite the rapidly growing disease prevalence. We aimed to define the genetic determinants of T2D in Qatar.

    Authors: Asma A Elashi, Salman M Toor, Umm-Kulthum Ismail Umlai, Yasser A Al-Sarraj, Shahrad Taheri, Karsten Suhre, Abdul Badi Abou-Samra and Omar M E Albagha
    Citation: BMC Medical Genomics 2024 17:115

    The Correction to this article has been published in BMC Medical Genomics 2024 17:131

  38. The risk of intracranial aneurysms (IAs) development and rupture is significantly higher in patients with periodontitis (PD), suggesting an association between the two. However, the specific mechanisms of asso...

    Authors: Yao Chen, Jian-huang Huang, Yuan-bao Kang, Zheng-jian Yao and Jian-hua Song
    Citation: BMC Medical Genomics 2024 17:114
  39. Metabolic syndrome is one of the major public-health challenges, affecting one-quarter of the world population. Fatty acid quality indices are novel determinants of this disease and their interactions with gen...

    Authors: Niloufar Rasaei, Elnaz Daneshzad, Alireza Khadem, Fatemeh Gholami, Mahsa Samadi and Khadijeh Mirzaei
    Citation: BMC Medical Genomics 2024 17:113
  40. The Warburg effect is a hallmark characteristic of colorectal cancer (CRC). Despite extensive research, the role of long non-coding RNAs (lncRNAs) in influencing the Warburg effect remains incompletely underst...

    Authors: Rui Mao, Chenxin Xu, Quanzheng Zhang, Zheng Wang, Yanjun Liu, Yurui Peng and Ming Li
    Citation: BMC Medical Genomics 2024 17:112

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