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  1. 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
  2. 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
  3. 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
  4. 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
  5. 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
  6. 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
  7. 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
  8. 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
  9. 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
  10. 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
  11. 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
  12. 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
  13. 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
  14. 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
  15. 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
  16. 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
  17. 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
  18. 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
  19. 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

  20. 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
  21. 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
  22. 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
  23. 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
  24. 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
  25. 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
  26. 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
  27. 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
  28. 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
  29. 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
  30. 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
  31. 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
  32. 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
  33. 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
  34. 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
  35. ALS2-related disorder involves retrograde degeneration of the upper motor neurons of the pyramidal tracts, among which autosomal recessive Infantile-onset ascending hereditary spastic paralysis (IAHSP) is a rare...

    Authors: Qiang Zhang, Qi Yang, Jingsi Luo, Xunzhao Zhou, Shang Yi, Shuyin Tan and Zailong Qin
    Citation: BMC Medical Genomics 2024 17:44
  36. Atherosclerosis (AS) is a pathology factor for cardiovascular diseases and instability of atherosclerotic plaques contributes to acute coronary events. This study identified a hub gene VCL for atherosclerotic ...

    Authors: Chong Wu, Wei Li, Panfeng Li and Xiaoyang Niu
    Citation: BMC Medical Genomics 2024 17:42
  37. Treatment failure following androgen deprivation therapy (ADT) presents a significant challenge in the management of advanced prostate cancer. Thus, understanding the genetic factors influencing this process c...

    Authors: Jun-Yan Chen, Chi-Fen Chang, Shu-Pin Huang, Chao-Yuan Huang, Chia-Cheng Yu, Victor C. Lin, Jiun-Hung Geng, Chia-Yang Li, Te-Ling Lu and Bo-Ying Bao
    Citation: BMC Medical Genomics 2024 17:41
  38. Variation in host immune responses to SARS-CoV-2 is regulated by multiple genes involved in innate viral response and cytokine storm emergence like IL-10 and TNFa gene polymorphisms. We hypothesize that IL-10; -5...

    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 17:40

    The Correction to this article has been published in BMC Medical Genomics 2024 17:63

  39. Whole genome sequencing (WGS) is becoming the preferred method for molecular genetic diagnosis of rare and unknown diseases and for identification of actionable cancer drivers. Compared to other molecular gene...

    Authors: Frederik Otzen Bagger, Line Borgwardt, Andreas Sand Jespersen, Anna Reimer Hansen, Birgitte Bertelsen, Miyako Kodama and Finn Cilius Nielsen
    Citation: BMC Medical Genomics 2024 17:39
  40. Single nucleotide polymorphisms (SNPs) in the nucleotide-binding domain leucine-rich repeat protein-3 (NLRP3) gene are reported to be linked to many inflammatory disorders. However, uncertainty persists over the ...

    Authors: Yu-dun Qu, Nan Jiang, Jia-xuan Li, Wei Zhang, Chang-liang Xia, Shuan-ji Ou, Yang Yang, Yun-fei Ma, Yong Qi and Chang-peng Xu
    Citation: BMC Medical Genomics 2024 17:38
  41. The HLA complex is the most polymorphic region of the human genome, and its improved characterization can help us understand the genetics of human disease as well as the interplay between cancer and the immune...

    Authors: Angelina Sverchkova, Scott Burkholz, Reid Rubsamen, Richard Stratford and Trevor Clancy
    Citation: BMC Medical Genomics 2024 17:37
  42. Idiopathic congenital nystagmus (ICN) manifests as involuntary and periodic eye movements. To identify the genetic defect associated with X-linked ICN, Whole Exome Sequencing (WES) was conducted in two affecte...

    Authors: Yuqing Su, Juntao Zhang, Jiahui Gao, Guoqing Ding, Heng Jiang, Yang Liu, Yulei Li and Guohua Yang
    Citation: BMC Medical Genomics 2024 17:36

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