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  1. 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
  2. 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
  3. 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
  4. 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

  5. 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
  6. 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
  7. 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
  8. 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
  9. 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
  10. 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
  11. 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
  12. 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
  13. 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
  14. 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
  15. 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
  16. 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
  17. 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
  18. 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
  19. 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
  20. 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
  21. 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
  22. 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
  23. 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

  24. 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
  25. 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
  26. 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
  27. 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
  28. Dysbacteriosis of intestinal tract may cause systemic inflammation, making distant anatomical locations more susceptible to illness. Recent research has demonstrated that the microbiome can affect both prostat...

    Authors: Cheng Shen, Zhan Chen, Wei Zhang, Xinfeng Chen, Bing Zheng and Chunmei Shi
    Citation: BMC Medical Genomics 2024 17:35
  29. Dent disease type I is a rare X-linked recessive renal tubular disease resulting from pathogenic variants in the CLCN5 gene. Due to the rarity of Dent disease type I and the diversity of its phenotypes, its clini...

    Authors: Ruijue Zhu, Mingming Zhu, Boye Wang, Enen Chen, Danlei Cai, Yinghong Yang, Yi Liang, Chuqi Su, Ding Wang, Xiaofang Sun, Linhuan Huang and Yingjun Xie
    Citation: BMC Medical Genomics 2024 17:34
  30. Preimplantation genetic testing for monogenic disorders (PGT-M) has been used for over 20 years to detect many serious genetic conditions. However, there is still a lack of reference materials (RMs) to validat...

    Authors: Weihua Zhao, Yanyan Song, Chuanfeng Huang, Shan Xu, Qi Luo, Runsi Yao, Nan Sun, Bo Liang, Jia Fei, Fangfang Gao, Jie Huang and Shoufang Qu
    Citation: BMC Medical Genomics 2024 17:33
  31. Mutations in MPZL2, the characteristic genetic etiology of autosomal recessive deafness loci 111 (DFNB111), cause non-syndromic and moderate sensorineural hearing loss.

    Authors: Lang Zhang, Jin-Yuan Yang, Qiu-Quan Wang, Xue Gao, Guo-Jian Wang, Ming-Yu Han, Dong-Yang Kang, Dong-Yi Han, Sha-Sha Huang and Yong-Yi Yuan
    Citation: BMC Medical Genomics 2024 17:32
  32. Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder which is characterized by the loss of both upper and lower motor neurons in the central nervous system. In a significant fraction of ALS case...

    Authors: Zsófia Flóra Nagy, Margit Pál, József I. Engelhardt, Mária Judit Molnár, Péter Klivényi and Márta Széll
    Citation: BMC Medical Genomics 2024 17:30
  33. X-linked nephrogenic diabetes insipidus (NDI) is a rare genetic renal disease caused by pathogenic variants in the AVPR2 gene. Single nucleotide variants and small insertions/deletions in AVPR2 are reliably detec...

    Authors: Lukáš Strych, Monika Černá, Markéta Hejnalová, Tomáš Zavoral, Pavla Komrsková, Jitka Tejcová, Ibrahim Bitar, Eva Sládková, Josef Sýkora and Ivan Šubrt
    Citation: BMC Medical Genomics 2024 17:29
  34. Cytochrome P450 2D6 is involved in the metabolism of several important medicines including opioids. Variations in CYP2D6 have been implicated in drug response and according to the Clinical Pharmacogenetics Imp...

    Authors: Nicholas Ekow Thomford, Susanna Aba Abraham, Samuel Badu Nyarko and Robert Peter Biney
    Citation: BMC Medical Genomics 2024 17:28
  35. Traditional observational research has suggested a connection between socioeconomic position, mental health, and sleep apnea (SA), but the specifics of this connection are still unclear. Using the Mendelian ra...

    Authors: Yuan Wu, Zuming Li, Xueru Chen, Siyi Wu, Xuemei Zhong, Aifang Zheng, Li Li, Hai Chen, Jiqiang Li, Yue Lu, Jiankun Chen and Kao Gan
    Citation: BMC Medical Genomics 2024 17:27
  36. To compare the expression levels of long non-coding RNA (lncRNA) and messenger RNA (mRNA) in pre-receptive endometrium between patients with Polycystic Ovary Syndrome (PCOS)and normal ovulation undergoing in v...

    Authors: Xiuhua Xu, Aimin Yang, Pengxiang Tian, Kun Zhang, Yuanyuan Liu, Yizhuo Wang, Ziwei Wang, Yanjing Wu, Zhiming Zhao, Qian Li, Baojun shi, Xianghua Huang and Gui-min Hao
    Citation: BMC Medical Genomics 2024 17:26
  37. Breast cancer is the second leading cause of cancer-related death in women, and drug resistance during treatment is a major challenge. However, the mechanisms underlying drug resistance are not fully understoo...

    Authors: Liantao Guo, Hong Cheng, Jianhua Liu, Weikang Shao, Lan Luo, Weijie Zheng, Shengrong Sun, Deguang Kong and Chuang Chen
    Citation: BMC Medical Genomics 2024 17:25
  38. Polycystic ovarian syndrome (PCOS) is a common endocrine disorder that affects 6–20% of women of reproductive age. One of the symptoms of PCOS is hyperandrogenism, which can impair follicular development. This...

    Authors: Kimia Monshizadeh, Masoud Tajamolian, Fatemeh Anbari, Mohammad Yahya Vahidi Mehrjardi, Seyed Mehdi Kalantar and Mohammadreza Dehghani
    Citation: BMC Medical Genomics 2024 17:24
  39. Antenatal Bartter syndrome is a life-threatening disease caused by a mutation in the MAGED2 gene located on chromosome Xp11. It is characterized by severe polyhydramnios and extreme prematurity. While most report...

    Authors: Xu Yan, Yueyue Hu, Xin Zhang, Xia Gao, Yang Zhao, Haiying Peng, Liu Ouyang and Changjun Zhang
    Citation: BMC Medical Genomics 2024 17:23
  40. Coronary artery calcification (CAC) is a highly specific marker of atherosclerosis. Niemann-Pick C1-like 1 (NPC1L1) and 3-hydroxy-3-methylglutaryl-coenzyme A reductase (HMGCR) are the therapeutic targets of ez...

    Authors: Yulong Li, Jiawen Li, Xiaofang Tang, Jingjing Xu, Ru Liu, Lin Jiang, Jian Tian, Yin Zhang, Dong Wang, Kai Sun, Bo Xu, Wei Zhao, Rutai Hui, Runlin Gao, Lei Song, Jinqing Yuan…
    Citation: BMC Medical Genomics 2024 17:22
  41. Cornelia de Lange Syndrome (CdLS) is a rare genetic disorder characterized by a range of physical, cognitive, and behavioral abnormalities. This study aimed to perform a comprehensive review of the literature ...

    Authors: Sahand Tehrani Fateh, Nadia Mohammad Zadeh, Shadab Salehpour, Farzad Hashemi-Gorji, Ashkan Omidi, Hossein Sadeghi, Reza Mirfakhraie, Parinaz Moghimi, Sepideh Keyvanfar, Sepideh Mohammadi Sarvaleh, Mohammad Miryounesi and Mohammad-Reza Ghasemi
    Citation: BMC Medical Genomics 2024 17:20
  42. In the ICU ward, septic cirrhotic patients are susceptible to suffering from sepsis-associated encephalopathy and/or hepatic encephalopathy, which are two common neurological complications in such patients. Ho...

    Authors: Juan Li, Dong Yang, Shengmei Ge, Lixia Liu, Yan Huo and Zhenjie Hu
    Citation: BMC Medical Genomics 2024 17:19
  43. This study aimed to screen and validate noise-induced hearing loss (NIHL) associated single nucleotide polymorphisms (SNPs), construct genetic risk prediction models, and evaluate higher-order gene-gene, gene-...

    Authors: Shan Wu, Zhidan Wu, Manlian Chen, Xiangbin Zhong, Haoyan Gu, Wenjing Du, Weidong Liu, Li Lang and Junyi Wang
    Citation: BMC Medical Genomics 2024 17:18

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