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  1. Copy number variations (CNVs) have emerged as significant contributors to the elusive genetic causality of inherited eye diseases. In this study, we describe a case with optic atrophy and a brain aneurysm, in ...

    Authors: Ethan Hung-Hsi Wang, Pei-Hsuan Lin, Pei-Liang Wu, Eugene Yu-Chuan Kang, Laura Liu, Lung-Kun Yeh, Kuan-Jen Chen, Meng-Chang Hsiao and Nan-Kai Wang
    Citation: BMC Medical Genomics 2024 17:94
  2. Acute pancreatitis (AP) is a common systemic inflammatory disease resulting from the activation of trypsinogen by various incentives in ICU. The annual incidence rate is approximately 30 out of 100,000. Some p...

    Authors: Zhonghua Lu, Yan Tang, Ruxue Qin, Ziyu Han, Hu Chen, Lijun Cao, Pinjie Zhang, Xiang Yang, Weili Yu, Na Cheng and Yun Sun
    Citation: BMC Medical Genomics 2024 17:93
  3. Repressor element 1 (RE1) silencing transcription factor (REST) is a transcriptional repressor abundantly expressed in aging human brains. It is known to regulate genes associated with oxidative stress, inflam...

    Authors: Jaejoon Choi and Eunjung Alice Lee
    Citation: BMC Medical Genomics 2024 17(Suppl 1):92

    This article is part of a Supplement: Volume 17 Supplement 1

  4. Dietary patterns could have a notable role in shaping gut microbiota composition. Evidence confirms the positive impact of the Mediterranean diet (MD), as one of the most studied healthy dietary patterns, on t...

    Authors: Armin Khavandegar, Ali Heidarzadeh, Pooneh Angoorani, Shirin Hasani-Ranjbar, Hanieh-Sadat Ejtahed, Bagher Larijani and Mostafa Qorbani
    Citation: BMC Medical Genomics 2024 17:91
  5. Branchio-oto-renal syndrome (BOR, OMIM#113,650) is a rare autosomal dominant disorder that presents with a variety of symptoms, including hearing loss (sensorineural, conductive, or mixed), structural abnormal...

    Authors: Hui Zhang, Jian Gao, Hanjun Wang, Mengli Liu, Shuangshuang Lu, Hongen Xu, Wenxue Tang and Guoxi Zheng
    Citation: BMC Medical Genomics 2024 17:89
  6. Liver cancer ranks sixth in incidence and third in mortality globally and hepatocellular carcinoma (HCC) accounts for 90% of it. Hypoxia, glycolysis, and lactate metabolism have been found to regulate the prog...

    Authors: Xiaodan Qin, Huiling Sun, Shangshang Hu, Yuqin Pan and Shukui Wang
    Citation: BMC Medical Genomics 2024 17:88
  7. This study aims to screen the differentially expressed long non-coding RNAs (DELncRNAs) related to the regulation of epithelial-mesenchymal transition (EMT) in hypospadias in mesenchymal stem cell-derived exos...

    Authors: Mengmeng Chang, Hongjie Gao, Yingying Li, Chen Ding, Zhiyi Lu, Ding Li, Fan Huang, Jiawei Chen and Fengyin Sun
    Citation: BMC Medical Genomics 2024 17:87
  8. The interplay between exosomes and the tumor microenvironment (TME) remains unclear. We investigated the influence of exosomes on the TME in hepatocellular carcinoma (HCC), focusing on their mRNA expression pr...

    Authors: Zhonghai Du, Xiuchen Han, Liping Zhu, Li Li, Leandro Castellano, Justin Stebbing, Ling Peng and Zhiqiang Wang
    Citation: BMC Medical Genomics 2024 17:86
  9. Multilocus pathogenic variants (MPVs) are genetic changes that affect multiple gene loci or regions of the genome, collectively leading to multiple molecular diagnoses. MPVs may also contribute to intrafamilia...

    Authors: Tugce Bozkurt-Yozgatli, Davut Pehlivan, Richard A. Gibbs, Ugur Sezerman, Jennifer E. Posey, James R. Lupski and Zeynep Coban-Akdemir
    Citation: BMC Medical Genomics 2024 17:85
  10. Diffuse large B-cell lymphoma (DLBCL), an aggressive and heterogenic malignant entity, is still a challenging clinical problem, since around one-third of patients are not cured with primary treatment. Next-gen...

    Authors: Bing Cao, Chenbo Sun, Rui Bi, Zebing Liu, Yijun Jia, Wenli Cui, Menghong Sun, Baohua Yu, Xiaoqiu Li and Xiaoyan Zhou
    Citation: BMC Medical Genomics 2024 17:84
  11. Gamma-glutamyltransferase 5 (GGT5), one of the two members in the GGT family (GGT1 and GGT5), plays a crucial role in oxidative regulation, inflammation promotion, and drug metabolism. Particularly in the tumo...

    Authors: Zhuang Luo, Yong Chen, Bangquan Chen, Ziming Zhao, Rongfan Wu and Jun Ren
    Citation: BMC Medical Genomics 2024 17:82
  12. Blood is critical for health, supporting key functions like immunity and oxygen transport. While studies have found links between common blood clinical indicators and COVID-19, they cannot provide causal infer...

    Authors: Zhenglin Chang, Suilin Wang, Kemin Liu, Runpei Lin, Changlian Liu, Jiale Zhang, Daqiang Wei, Yuxi Nie, Yuerong Chen, Jiawei He, Haiyang Li, Zhangkai J. Cheng and Baoqing Sun
    Citation: BMC Medical Genomics 2024 17:81
  13. Mice are routinely utilized as animal models of drug-induced liver injury (DILI), however, there are significant differences in the pathogenesis between mice and humans. This study aimed to compare gene expres...

    Authors: Shanmin Zhao, Yan Feng, Jingyuan Zhang, Qianqian Zhang, Junyang Wang and Shufang Cui
    Citation: BMC Medical Genomics 2024 17:80
  14. Hypothyroidism is a common endocrine disorder that exerts a substantial influence on people all over the world. Levothyroxine (LT-4) is the drug of choice for the treatment of hypothyroidism and the starting o...

    Authors: S. S. Dalugodage, Gayan Bowatte, Charles Antonypillai, S. Rajapakse and T. M. I. U. K. Tennakoon
    Citation: BMC Medical Genomics 2024 17:79
  15. Dihydropyrimidine dehydrogenase (DPD), is the initial and rate-limiting enzyme in the catabolic pathway of pyrimidines. Deleterious variants in the DPYD gene cause DPD deficiency, a rare autosomal recessive disor...

    Authors: Anna Malekkou, Marios Tomazou, Gavriella Mavrikiou, Maria Dionysiou, Theodoros Georgiou, Ioannis Papaevripidou, Angelos Alexandrou, Carolina Sismani, Anthi Drousiotou, Olga Grafakou and Petros P. Petrou
    Citation: BMC Medical Genomics 2024 17:78
  16. Cancer-associated fibroblasts (CAFs) play a crucial role in the tumor microenvironment of lung adenocarcinoma (LUAD) and are often associated with poorer clinical outcomes. This study aimed to screen for CAF-s...

    Authors: Ying Bai, Tao Han, Yunjia Dong, Chao Liang, Lu Gao, Yafeng Liu, Jiawei Zhou, Jianqiang Guo, Deyong Ge, Jing Wu and Dong Hu
    Citation: BMC Medical Genomics 2024 17:77
  17. PKU is an autosomal recessive hereditary inborn error of metabolism caused by a lack of phenylalanine hydroxylase enzyme activity. Pegvaliase (PALYNZIQ®) treatment has been approved to reduce blood Phe concent...

    Authors: Majid Alfadhel and Rayyan Albarakati
    Citation: BMC Medical Genomics 2024 17:76
  18. Peripheral T-cell lymphoma (PTCL) is a subtype of non-Hodgkin's lymphoma that occurs primarily at extranodal sites and is commonly treated using chemotherapy and radiotherapy. PTCL is more malignant than other...

    Authors: Yunyi Lan, Wei Tao, Luyao Ma, Xiaoxiong Wang, Hongsheng Li, Yaxi Du, Ruijiao Yang, Shunxian Wu, Yingxin Ou, Xin Liu, Yunchao Huang and Yongchun Zhou
    Citation: BMC Medical Genomics 2024 17:74
  19. About 5–10% of neurofibromatosis type 1 (NF1) patients exhibit large genomic germline deletions that remove the NF1 gene and its flanking regions. The most frequent NF1 large deletion is 1.4 Mb, resulting from ho...

    Authors: Laurence Pacot, Milind Girish, Samantha Knight, Gill Spurlock, Vinod Varghese, Manuela Ye, Nick Thomas, Eric Pasmant and Meena Upadhyaya
    Citation: BMC Medical Genomics 2024 17:73
  20. Globally, preterm birth remains the leading cause of death in children younger than 5 years old. Spontaneous preterm birth is comprised of two events that may or may not occur simultaneously: preterm labor and...

    Authors: Lori A. Underhill, J. M. Mennella, G. A. Tollefson, A. Uzun and B. E. Lechner
    Citation: BMC Medical Genomics 2024 17:72
  21. The timely and accurate diagnosis of bloodstream infection (BSI) is critical for patient management. With longstanding challenges for routine blood culture, metagenomics is a promising approach to rapidly prov...

    Authors: Lluis Moragues-Solanas, Thanh Le-Viet, Elinor McSorley, Carl Halford, Daniel S. Lockhart, Alp Aydin, Gemma L. Kay, Ngozi Elumogo, William Mullen, Justin O’Grady and Matthew W. Gilmour
    Citation: BMC Medical Genomics 2024 17:71
  22. Recent evidence has shed light on the significant role of FANCD2 in cancer initiation, development, and progression. However, a comprehensive pan-cancer analysis of FANCD2 has been lacking. In this study, we have...

    Authors: Zedan Zhao, Ruyu Wang, Ruixue Wang, Jialing Song, Fengjun Ma, Huafeng Pan, Cuiyun Gao, Deqiang Wang, Xuemei Chen and Xiangzhen Fan
    Citation: BMC Medical Genomics 2024 17:69
  23. Thousand and one amino-acid kinase 1 (TAOK1) encodes the MAP3K protein kinase TAO1, which has recently been displayed to be essential for neuronal maturation and cortical differentiation during early brain develo...

    Authors: Anna Cavalli, Stefano Giuseppe Caraffi, Susanna Rizzi, Gabriele Trimarchi, Manuela Napoli, Daniele Frattini, Carlotta Spagnoli, Livia Garavelli and Carlo Fusco
    Citation: BMC Medical Genomics 2024 17:68
  24. Coronary heart disease (CHD) has become a worldwide public health problem. Genetic factors are considered important risk factors for CHD. The aim of this study was to explore the correlation between CYP4A22 ge...

    Authors: Kang Huang, Tianyi Ma, Qiang Li, Zanrui Zhong, Yilei Zhou, Wei Zhang, Ting Qin, Shilin Tang, Jianghua Zhong and Shijuan Lu
    Citation: BMC Medical Genomics 2024 17:66
  25. Estimation of HLA (Human leukocyte Antigen) alleles’ frequencies in populations is essential to explore their ethnic origin. Anthropologic studies of central Tunisian population were rarely reported. Then, in ...

    Authors: Amène Ben Bnina, Amri Yessine, Yasmine El Bahri, Saoussen Chouchene, Nada Ben Lazrek, Mariem Mimouna, Zeineb Mlika, Aziza Messoudi, Dorsaf Zellama, Wissal Sahtout and Amina Bouatay
    Citation: BMC Medical Genomics 2024 17:65
  26. Preeclampsia (PE) is a serious medical condition that usually causes high blood pressure and affects multiple organs. Considering the adverse effect of oxidative stress on the process of PE in pregnant women a...

    Authors: Saba Zakeri, Zohreh Rahimi, Nayebali Rezvani, Asad Vaisi-Raygani, Reza Alibakhshi, Sahel Zakeri and Kheirolah Yari
    Citation: BMC Medical Genomics 2024 17:64
  27. Authors: Raghda E. Eldesouki, Rania M. Kishk, Noha M. Abd El-Fadeal, Rama I Mahran, Noha Kamel, Eman Riad, Nader Nemr, Safaa M. Kishk and Eman Abdel-Moemen Mohammed
    Citation: BMC Medical Genomics 2024 17:63

    The original article was published in BMC Medical Genomics 2024 17:40

  28. Heart failure (HF) is a prevalent cardiac condition characterized by high mortality and morbidity rates. Immune cells play a pivotal role as crucial biomarkers in assessing the overall immune status of individ...

    Authors: Rutao Bian, Xuegong Xu and Zishuang Li
    Citation: BMC Medical Genomics 2024 17:62
  29. IgA nephropathy (IgAN) is one of the most common primary glomerulonephritis, which is a significant cause of renal failure. At present, the classification of IgAN is often limited to pathology, and its molecul...

    Authors: Hongbiao Ren, Wenhua Lv, Zhenwei Shang, Liangshuang Li, Qi Shen, Shuai Li, Zerun Song, Xiangshu Cheng, Xin Meng, Rui Chen and Ruijie Zhang
    Citation: BMC Medical Genomics 2024 17:61
  30. Shugoshin-1 (SGOL1) is a mammalian ortholog of Shugoshin in yeast and is essential for precise chromosome segregation during mitosis and meiosis. Aberrant SGOL1 expression was reported to be closely correlated...

    Authors: Zezhong Yang, Yunzhong Jiang, Lu Wang, Binghe Yu, Hui Cai, Jinhai Fan and Mengzhao Zhang
    Citation: BMC Medical Genomics 2024 17:60
  31. Heart failure (HF) is a prevalent clinical syndrome with diverse etiologies. It is crucial to identify novel therapeutic targets based on underlying causes. Here, we aimed to use proteome-wide Mendelian random...

    Authors: Lichao Lin, Huizhen Yu, Yan Xue, Liman Wang and Pengli Zhu
    Citation: BMC Medical Genomics 2024 17:59
  32. Ischemic stroke (IS) is a common and serious neurological condition that is highly fatal but so far no early diagnostic markers are available. Myocardial infarction-associated transcript (MIAT) is a long non-c...

    Authors: Yin-Hua Weng, Jie Chen, Wen-Tao Yu, Yan-Ping Luo, Chao Liu, Jun Yang and Hong-Bo Liu
    Citation: BMC Medical Genomics 2024 17:58
  33. Copy number variation (CNV) of X chromosome can lead to a variety of neonatal abnormalities, especially for male fetuses. In recent years, due to the high sensitivity and high specificity of NIPS, its applicat...

    Authors: Qing Lin, Chunya Liang, Bole Du, Lijiao Li, Hong Li, Xiaolan Mai, Sheng Li, Wenyu Xu, Cunzhen Wu and Mi Zeng
    Citation: BMC Medical Genomics 2024 17:57
  34. Liver fibrosis is a major global healths problem; nevertheless, its molecular mechanism are not completely clear. This study aimed to build a lncRNA-miRNA-mRNA network, identify potentially related lncRNAs, an...

    Authors: Feng Zhang, Siya Pei and Meifang Xiao
    Citation: BMC Medical Genomics 2024 17:56
  35. Gene variants are responsible for more than half of hearing loss, particularly in nonsyndromic hearing loss (NSHL). The most common pathogenic variant in SLC26A4 gene found in East Asian populations is c.919-2A >...

    Authors: Yan-Qiong Li, Heng Ma, Qin-Yao Wang, De-Sheng Liu, Wei Wang, Shi-Xin Li, Rong-Xia Zuo, Tao Shen, Bao-Sheng Zhu and Ya-Lian Sa
    Citation: BMC Medical Genomics 2024 17:55
  36. MECP2 duplication syndrome (MDS) is a rare X-linked genomic disorder that primarily affects males. It is characterized by delayed or absent speech development, severe motor and cognitive impairment, and recurrent...

    Authors: Lan Zeng, Hui Zhu, Jin Wang, Qiyan Wang, Ying Pang, Zemin Luo, Ai Chen, Shengfang Qin and Shuyao Zhu
    Citation: BMC Medical Genomics 2024 17:54
  37. Abnormal dynamics of the Golgi apparatus reshape the tumor microenvironment and immune landscape, playing a crucial role in the prognosis and treatment response of cancer. This study aims to investigate the po...

    Authors: Aichun Zhang, Xiao He, Chen Zhang and Xuxia Tang
    Citation: BMC Medical Genomics 2024 17:53
  38. Despite the advancements in heart failure(HF) research, the early diagnosis of HF continues to be a challenging issue in clinical practice. This study aims to investigate the genes related to myocardial fibros...

    Authors: Yonghua Yuan, Yiwei Niu, Jiajun Ye, Yuejuan Xu, Xuehua He and Sun Chen
    Citation: BMC Medical Genomics 2024 17:52
  39. Pontocerebellar hypoplasia is an umbrella term describing a heterogeneous group of prenatal neurodegenerative disorders mostly affecting the pons and cerebellum, with 17 types associated with 25 genes. However...

    Authors: Mohammad-Reza Ghasemi, Sahand Tehrani Fateh, Aysan Moeinafshar, Hossein Sadeghi, Parvaneh Karimzadeh, Reza Mirfakhraie, Mitra Rezaei, Farzad Hashemi-Gorji, Morteza Rezvani Kashani, Fatemehsadat Fazeli Bavandpour, Saman Bagheri, Parinaz Moghimi, Masoumeh Rostami, Rasoul Madannejad, Hassan Roudgari and Mohammad Miryounesi
    Citation: BMC Medical Genomics 2024 17:51
  40. Pathway mutations have been calculated to predict the poor prognosis and immunotherapy resistance in head and neck squamous cell carcinoma (HNSCC). To uncover the unique markers predicting prognosis and immune...

    Authors: Yuhong Huang, Han Liu, Bo Liu, Xiaoyan Chen, Danya Li, Junyuan Xue, Nan Li, Lei Zhu, Liu Yang, Jing Xiao and Chao Liu
    Citation: BMC Medical Genomics 2024 17:49
  41. Mutations in fibrillin-1 (FBN1) are known to be associated with Marfan syndrome (MFS), an autosomal dominant connective tissue disorder. Most FBN1 mutations are missense or nonsense mutations. Traditional molecul...

    Authors: Xinxin Lu, Ren Wang, Mingjie Li, Biao Zhang, Huiying Rao, Xiaoli Huang, Xijun Chen and Yan’an Wu
    Citation: BMC Medical Genomics 2024 17:47
  42. To analyze the clinical phenotype and genetic characteristics of a female proband carrying a novel mutation in the DMD gene with non-random X-chromosome inactivation in a large pedigree with pseudohypertrophic mu...

    Authors: Ming-Xia Sun, Miao Jing, Ying Hua, Jian-Biao Wang, Sheng-Quan Wang, Li-Lan Chen, Liang Ju and Yan-Shan Liu
    Citation: BMC Medical Genomics 2024 17:46

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