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  1. 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
  2. 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
  3. 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

  4. 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
  5. 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
  6. 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
  7. 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
  8. 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
  9. 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
  10. 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
  11. 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
  12. 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
  13. 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
  14. 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
  15. 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
  16. 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
  17. 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
  18. 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
  19. 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
  20. 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
  21. 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
  22. 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
  23. 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
  24. Though persons of African descent have one of the widest genetic variability, genetic polymorphisms of drug-metabolising enzymes such as N-Acetyltransferase-2 (NAT2) are understudied. This study aimed to identify...

    Authors: Lilian N. Njagi, Jared O. Mecha, Marianne W Mureithi, Leon E. Otieno and Videlis Nduba
    Citation: BMC Medical Genomics 2024 17:14
  25. Lung cancer is a highly prevalent malignancy worldwide and is associated with high mortality rates. While the involvement of endoplasmic reticulum (ER) stress in the development of lung adenocarcinoma (LUAD) h...

    Authors: Ying Liu, Wei Lin, Hongyan Qian, Ying Yang, Xuan Zhou, Chen Wu, Xiaoxia Pan, Yuan Liu and Gaoren Wang
    Citation: BMC Medical Genomics 2024 17:12
  26. It has been reported that Mannose-binding lectin 2 (MBL2) gene polymorphisms and expression levels are related to dilated cardiomyopathy (DCM). This study aimed to investigate the potential association between MB...

    Authors: Yujie Mao, Hong Wei, Yugang Gong, Lei Peng and Yu Chen
    Citation: BMC Medical Genomics 2024 17:11
  27. People with autosomal recessive disorders often were born without awareness of the carrier status of their parents. The American College of Medical Genetics and Genomics (ACMG) recommends screening 113 genes k...

    Authors: Wanna Chetruengchai, Prasit Phowthongkum and Vorasuk Shotelersuk
    Citation: BMC Medical Genomics 2024 17:9
  28. Type 2 diabetes mellitus (T2DM) is an established risk factor for acute ischemic stroke (AIS). Although there are reports on the correlation of diabetes and stroke, data on its pathogenesis is limited. This st...

    Authors: Yong He, Yang Bai, Qin Huang, Jian Xia and Jie Feng
    Citation: BMC Medical Genomics 2024 17:8
  29. Hepatoid adenocarcinoma (HAC) is rare in the urinary system, with only 7 reported cases in upper urinary tract. This report aimed to explore the genetic characteristics of ureteral HAC for first time, and to d...

    Authors: Mengxin Lu, Yueying Li, Dongliang Hu, Jingtian Yu, Hang Zheng and Tongzu Liu
    Citation: BMC Medical Genomics 2024 17:7
  30. Alzheimer’s disease (AD) is a progressive neurodegenerative disease that can cause dementia. We aim to screen out the hub genes involved in AD based on microarray datasets.

    Authors: Wenyuan Cao, Zhangge Ji, Shoulian Zhu, Mei Wang and Runming Sun
    Citation: BMC Medical Genomics 2024 17:6
  31. Osteoporosis is the most common metabolic bone disease in humans. Exploring the expression difference of iron metabolism-related genes in osteoporosis can provide a new target for diagnosis and treatment.

    Authors: Zutao Li, Jiangbo Xu, Shouyin Shi, Youlin Weng, Bin Guo, Lixin Che and Jungang Sun
    Citation: BMC Medical Genomics 2024 17:5
  32. Hereditary hearing loss is a highly heterogeneous disorder. This study aimed to identify the genetic cause of a Chinese family with autosomal recessive non-syndromic sensorineural hearing loss (ARNSHL).

    Authors: Kaifeng Zheng, Sheng Lin, Jian Gao, Shiguo Chen, Jindi Su, Zhiqiang Liu and Shan Duan
    Citation: BMC Medical Genomics 2024 17:4
  33. Lymphangiogenesis plays an important role in tumor progression and is significantly associated with tumor immune infiltration. However, the role and mechanisms of lymphangiogenesis in colorectal cancer (CRC) a...

    Authors: Hong Liu, Huiwen Shi and Yinggang Sun
    Citation: BMC Medical Genomics 2024 17:2
  34. CC chemokine receptors are responsible for regulating the tumor microenvironment (TME) and participating in carcinogenesis and tumor advancement. However, no functional study has investigated CC chemokine rece...

    Authors: Xinghe Liao, Yong Yang, Lihuan Wang, Zhiyuan Kong and Weiping Li
    Citation: BMC Medical Genomics 2024 17:1
  35. Psoriasis is a chronic, autoimmune, papulosquamous skin disorder, characterized by the formation of drop-like papules and silvery-white plaques surrounded by reddened or inflamed skin, existing predominantly o...

    Authors: Saima Saleem, Zunaira Imran, Azam Samdani, Bahram Khoso, Sitwat Zehra and Abid Azhar
    Citation: BMC Medical Genomics 2023 16:335
  36. Dilated cardiomyopathy (DCM) is a major cause of sudden cardiac death and heart failure. Up to 50% of all DCM cases have a genetic background, with variants in over 250 genes reported in association with DCM. ...

    Authors: Serwa Ghasemi, Mohammad Mahdavi, Majid Maleki, Iman Salahshourifar and Samira Kalayinia
    Citation: BMC Medical Genomics 2023 16:334
  37. Cystinuria is an autosomal recessive disorder characterized by a cystine transport deficiency in the renal tubules due to mutations in two genes: SLC3A1 and SLC7A9. Cystinuria can be classified into three forms b...

    Authors: Danhua Liu, Yongli Zhao, Xia Xue, Xinyue Hou, Hongen Xu, Xinghua Zhao, Yongan Tian, Wenxue Tang, Jiancheng Guo and Changbao Xu
    Citation: BMC Medical Genomics 2023 16:333
  38. Several genome-wide association studies (GWAS) have been performed to identify variants related to chronic diseases. Somatic variants in cancer tissues are associated with cancer development and prognosis. Exp...

    Authors: Soohyun Jeon, Chaewon Park, Jineui Kim, Jung Hoon Lee, Sung-yune Joe, Young Kyung Ko and Jeong-An Gim
    Citation: BMC Medical Genomics 2023 16:332
  39. Osteoporosis is a systemic, multifactorial disorder of bone mineralization. Many factors contributing to the development of osteoporosis have been identified so far, including gender, age, nutrition, lifestyle...

    Authors: Ilya S Dantsev, Mariia A Parfenenko, Gulnara M Radzhabova and Ekaterina A Nikolaeva
    Citation: BMC Medical Genomics 2023 16:329
  40. Colorectal cancer (CRC) is a prevalent malignancy worldwide, with increasing incidence and mortality rates. Although treatment options have improved, CRC remains a leading cause of death due to metastasis. Ear...

    Authors: Huimin Liu, Xingxing Wu, Dandan Wang, Quanxi Li, Xin Zhang and Liang Xu
    Citation: BMC Medical Genomics 2023 16:327

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