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  1. Concurrent variation in adiposity and inflammation suggests potential shared functional pathways and pleiotropic disease underpinning. Yet, exploration of pleiotropy in the context of adiposity-inflammation ha...

    Authors: Mohammad Yaser Anwar, Antoine R. Baldassari, Hannah G. Polikowsky, Colleen M. Sitlani, Heather M. Highland, Nathalie Chami, Hung-Hsin Chen, Mariaelisa Graff, Annie Green Howard, Su Yon Jung, Lauren E. Petty, Zhe Wang, Wanying Zhu, Steven Buyske, Iona Cheng, Robert Kaplan…
    Citation: BMC Medical Genomics 2022 15:192
  2. Patient-derived xenograft (PDX) models were established to reproduce the clinical situation of original cancers and have increasingly been applied to preclinical cancer research. Our study was designed to esta...

    Authors: Shuangwei Zou, Miaomiao Ye, Jian-an Zhang, Huihui Ji, Yijie Chen and Xueqiong Zhu
    Citation: BMC Medical Genomics 2022 15:191
  3. Tumor mutation burden (TMB) is a key characteristic used in a tumor-type agnostic context to inform the use of immune checkpoint inhibitors (ICI). Accurate and consistent measurement of TMB is crucial as it ca...

    Authors: Emma Titmuss, Richard D. Corbett, Scott Davidson, Sanna Abbasi, Laura M. Williamson, Erin D. Pleasance, Adam Shlien, Daniel J. Renouf, Steven J. M. Jones, Janessa Laskin and Marco A. Marra
    Citation: BMC Medical Genomics 2022 15:190
  4. Familial dilated cardiomyopathy (DCM) is a genetic cardiomyopathy that is associated with reduced left ventricle function or systolic function. Fifty-one DCM-causative genes have been reported, most of which a...

    Authors: Kai Luo, Chenqing Zheng, Rong Luo, Xin Cao, Huajun Sun, Huihui Ma, Jichang Huang, Xu Yang, Xiushan Wu and Xiaoping Li
    Citation: BMC Medical Genomics 2022 15:189
  5. 46,XX male disorders of sex development are rare. Approximately 80% of cases of testicular tissue differentiation may be due to translocation of SRY to the X chromosome or an autosome. SRY-negative 46,XX males sh...

    Authors: Jiansheng Wei, Changrong Liu, Minyan Zhang, Shen Liu, Junjie Fu and Peng Lin
    Citation: BMC Medical Genomics 2022 15:188
  6. Lung cancer is a high-incidence cancer, and it is also the most common cause of cancer death worldwide. 80–85% of lung cancer cases can be classified as non-small cell lung cancer (NSCLC).

    Authors: Huan Ding, Li Shi, Zhuo Chen, Yi Lu, Zhiyu Tian, Hongyu Xiao, Xiaojing Deng, Peiyi Chen and Yue Zhang
    Citation: BMC Medical Genomics 2022 15:187
  7. Several predisposing factors for diabetes mellitus have been identified, including cluster determinant 36 (CD36) receptor expression. We aimed to determine the effects of CD36 gene polymorphisms and hypermethylat...

    Authors: Maïmouna Touré, Abdoulaye Samb, Mbaye Sène, Souleymane Thiam, Cheikh A. B. Mané, Abdou K. Sow, Awa Ba-Diop, Modou O. Kane, Mamadou Sarr, Abdoulaye Ba and Lamine Gueye
    Citation: BMC Medical Genomics 2022 15:186
  8. Intrahepatic cholangiocarcinoma (ICC) is a malignant tumor, which poses a serious threat to human health. Histone 3 lysine 9 trimethylation (H3K9me3) is a post-translational modification involved in regulating...

    Authors: Sheng Hu, Xuejun Wang, Tao Wang, Lianmin Wang, Lixin Liu, Wenjun Ren, Xiaoyong Liu, Weihan Zhang, Weiran Liao, Zhoujun Liao, Renchao Zou and Xiaowen Zhang
    Citation: BMC Medical Genomics 2022 15:185
  9. Thyroid cancer (TC) is the most common endocrine malignancy worldwide. The incidence of TC is high and increasing worldwide due to continuous improvements in diagnostic technology. Therefore, identifying accur...

    Authors: Bo Song, Lijun Tian, Fan Zhang, Zheyu Lin, Boshen Gong, Tingting Liu and Weiping Teng
    Citation: BMC Medical Genomics 2022 15:183
  10. PCDH19-related epilepsy is a rare X-linked type of epilepsy caused by genomic variants of the Protocadherin 19 (PCDH19) gene. The clinical characteristics of PCDH19-related epilepsy are epileptic and non-epilepti...

    Authors: Giovanni Battista Dell’Isola, Elisabetta Mencaroni, Antonella Fattorusso, Giorgia Tascini, Paolo Prontera, Valentina Imperatore, Giuseppe Di Cara, Pasquale Striano and Alberto Verrotti
    Citation: BMC Medical Genomics 2022 15:181
  11. Serine and arginine-rich splicing factor 9 (SRSF9) has been linked to the occurrence and progression of various cancers; however, its effects and mechanism of action hepatocellular carcinoma (HCC) have not been r...

    Authors: Guoshun Zhang, Bin Liu, Hua Shang, Guikai Wu, Diyang Wu, Liuqing Wang, Shengnan Li, Zhiyuan Wang, Suying Wang and Juxiang Yuan
    Citation: BMC Medical Genomics 2022 15:180
  12. Disorders of sex development (DSD) are congenital disorders in which the development of the chromosomal, gonadal, or anatomical sex is atypical. Mutations in various genes can impede gonadal development, hormo...

    Authors: Jia Wei, Jiaqi Wu, Wei Ru, Guangjie Chen, Lei Gao and Daxing Tang
    Citation: BMC Medical Genomics 2022 15:178
  13. Increasing evidence indicates that the immune microenvironment plays a key role in the genesis and progression of colorectal cancer (CRC). This study aimed to establish an immune-related gene (IRG) signature a...

    Authors: Shuwei Wang, Liang Cheng, Fa Jing and Gan Li
    Citation: BMC Medical Genomics 2022 15:177
  14. Recurrent patellar dislocation is the result of anatomical alignment and imbalance of restraint of bone and soft tissue. We investigate the anatomical characteristics of the knee joint in a family of patients ...

    Authors: Qi-hao Zhang, Yan Zhang, Rui-xuan He, Han-ming Guo and Xin-guang Wang
    Citation: BMC Medical Genomics 2022 15:176
  15. Sulfur mustard (SM) is an alkylating and forming chemical that was widely used by Iraqi forces during the Iran–Iraq wars. One of the target organs of SM is the skin. Understanding the mechanisms involved in th...

    Authors: Vahid Jamshidi, B. Fatemeh Nobakht M. Gh, Shahram Parvin, Hasan Bagheri, Mostafa Ghanei, Alireza Shahriary, Seyyed Masoud Davoudi and Masoud Arabfard
    Citation: BMC Medical Genomics 2022 15:175
  16. Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease characterized by predominant impairment of upper and lower motor neurons. Over 50 TARDBP mutations have been reported in both familia...

    Authors: Fanxi Xu, Sen Huang, Xu-Ying Li, Jianing Lin, Xiuli Feng, Shu Xie, Zhanjun Wang, Xian Li, Junge Zhu, Hong Lai, Yanming Xu, Xusheng Huang, Xiaoli Yao and Chaodong Wang
    Citation: BMC Medical Genomics 2022 15:173
  17. Gorlin-Goltz syndrome (GS) is an inherited disease characterized by predisposition to basal cell carcinomas (BCCs) and various developmental defects, whose numerous disease-causing PTCH1 mutations have been ident...

    Authors: Lihua Ye, Li Wang, Kexin Peng, Ou Fang, Zhen Tian, Caihua Li, Xiaopeng Fu, Qingdong Chen, Jia Chen, Jing Luan, Zhenghua Zhang and Qiaoan Zhang
    Citation: BMC Medical Genomics 2022 15:172
  18. Acute lymphoblastic leukemia is the most prevailing pediatric hematologic malignancy, and various factors such as environmental exposures and genetic variation affect ALL susceptibility and patients outcome. A...

    Authors: Mahla Sattarzadeh Bardsiri, Shahrzad Zehtab, Najibe Karami, Alireza Farsinejad, Mohsen Ehsan and Ahmad Fatemi
    Citation: BMC Medical Genomics 2022 15:171
  19. Heritable connective tissue disorders (HCTDs) consist of heterogeneous syndromes. The diagnosis of HCTDs is aided by genomic biotechnologies (e.g., next-generation sequencing panels) facilitating the discovery...

    Authors: Olivia J. Veatch, Jacob Steinle, Waheeda A. Hossain and Merlin G. Butler
    Citation: BMC Medical Genomics 2022 15:169
  20. Alzheimer’s disease (AD) is a complex neurodegenerative disorder and the most common type of dementia. AD is characterized by a decline of cognitive function and brain atrophy, and is highly heritable with est...

    Authors: Mansu Kim, Ruiming Wu, Xiaohui Yao, Andrew J. Saykin, Jason H. Moore and Li Shen
    Citation: BMC Medical Genomics 2022 15(Suppl 2):168

    This article is part of a Supplement: Volume 15 Supplement 2

  21. Next-generation sequencing provides comprehensive information about individuals’ genetic makeup and is commonplace in precision oncology practice. Due to the heterogeneity of individual patient’s disease condi...

    Authors: Yiqing Zhao, Anastasios Dimou, Feichen Shen, Nansu Zong, Jaime I. Davila, Hongfang Liu and Chen Wang
    Citation: BMC Medical Genomics 2022 15:167
  22. Hepatocellular carcinoma (HCC) is a cancer with a poor prognosis. Many recent studies have suggested that pyroptosis is important in tumour progression. However, the role of pyroptosis-related genes (PRGs) in ...

    Authors: Sainan Duan, Jianying Gao, Weiming Lou, Yize Zhang, Ying Deng, Cong Wang, Haiyue Huang, Hui Xu, Sixuan Guo, Shuhui Lai, Feiyang Xi, Zhangwang Li, Libin Deng and Yuanbin Zhong
    Citation: BMC Medical Genomics 2022 15:166
  23. X-linked recessive ichthyosis (XLI) is a genodermatosis, caused by a deficiency of the steroid sulphatase enzyme encoded by the STS gene (OMIM # 300,747). Adopted XLI molecular diagnosis approaches differ from on...

    Authors: Hamza Chouk, Sarra Saad, Sarra Dimassi, Nadia Ghariani Fetoui, Ayda Bennour, Rima Gammoudi, Haifa Elmabrouk, Ali Saad, Mohamed Denguezli and Dorra H’mida
    Citation: BMC Medical Genomics 2022 15:165
  24. Studies have shown that long noncoding RNAs and N6-methyladenosine play important roles in gastric cancer. The purpose of this study was to determine the correlation and prognostic value of m6A-related lncRNAs...

    Authors: Jiarong Huang, Jinxuan Song, xiangyu Li, Shuangfei Liu, Wentao Huang, Ziyi Shen, Yan Cheng, Shien Kou, Zhenguo Gao, Yunhong Tian and Jiani Hu
    Citation: BMC Medical Genomics 2022 15:164
  25. The most frequent clinical presentation of autosomal dominant nonsyndromic hearing loss (ADNSHL) is bilateral, symmetrical, postlingual progressive sensorineural hearing loss, which begins with impairment at h...

    Authors: Qiong Li, Shujuan Wang, Pengfei Liang, Wei Li, Jian Wang, Bei Fan, Yang Yang, Xiaogang An, Jun Chen and Dingjun Zha
    Citation: BMC Medical Genomics 2022 15:163
  26. Hypophosphatemic rickets (HR) is a rare genetic disorder associated with renal phosphate wasting and characterized by bone defects. Inactivating mutations in the phosphate regulating endopeptidase homolog X‑li...

    Authors: Yixuan Cao, Yi You, Qiong Wang, Xiuzhi Ren, Shan Li, Lulu Li, Weibo Xia, Xin Guan, Tao Yang, Shiro Ikegawa, Zheng Wang and Xiuli Zhao
    Citation: BMC Medical Genomics 2022 15:161
  27. Noonan syndrome (NS) is a genetic disorder characterized by developmental delays, typical facial gestalt and cardiovascular defects. LZTR1 variants have been recently described in patients with NS and schwannomat...

    Authors: Kirsten M. Farncombe, Emily Thain, Carolina Barnett-Tapia, Hamid Sadeghian and Raymond H. Kim
    Citation: BMC Medical Genomics 2022 15:160
  28. Paroxysmal extreme pain disorder (PEPD) is a rare autosomal dominant hereditary disease, characterized by paroxysmal burning pain in the rectum, eyes or mandible and autonomic nervous symptoms, including skin ...

    Authors: Yi Hua, Di Cui, Lin Han, Lu Xu, Shanshan Mao, Cuiwei Yang, Feng Gao and Zhefeng Yuan
    Citation: BMC Medical Genomics 2022 15:159
  29. Tumor protein p63 is an important transcription factor regulating epithelial morphogenesis. Variants associated with the TP63 gene are known to cause multiple disorders. In this study, we determined the genetic c...

    Authors: Mingzhu Miao, Shoulian Lu, Xiao Sun, Meng Zhao, Jue Wang, Xiaotan Su, Bai Jin and Lizhou Sun
    Citation: BMC Medical Genomics 2022 15:157
  30. Kidney renal clear cell carcinoma (KIRC) is among the major causes of cancer-caused mortality around the world. Transient receptor potential channels (TRPs), due to their role in various human diseases, might ...

    Authors: Jie Ren, Qihang Yuan, Jifeng Liu, Lei Zhong, Hanshuo Li, Guangzhen Wu, Feng Chen and Qizhen Tang
    Citation: BMC Medical Genomics 2022 15:156
  31. Osteogenesis imperfecta (OI) is the most common monogenic disease of the skeletal system and is usually caused by mutations in the COL1A1 or COL1A2 genes. Congenital contractural arachnodactyly syndrome (CCA) is ...

    Authors: Jing Chen, Qinqin Xiang, Xiao Xiao, Bocheng Xu, Hanbing Xie, He Wang, Mei Yang and Shanling Liu
    Citation: BMC Medical Genomics 2022 15:154
  32. Acute respiratory distress syndrome (ARDS) causes significant mortality in young children with certain diseases. Early diagnosis and treatment can reduce infant mortality. Here, we report a rare case of exome ...

    Authors: Xue Gong, Yunru He, Guoyan Lu, Yulin Zhang, Yu Qiu, Lina Qiao and Yifei Li
    Citation: BMC Medical Genomics 2022 15:153
  33. To investigate the genetic causes of hearing loss in patients with enlarged vestibular aqueduct (EVA), the SLC26A4-related genotypes and phenotypes were analyzed. SLC26A4 gene is closely associated with EVA and i...

    Authors: Xiaohui He, Shaozhi Zhao, Lin Shi, Yitong Lu, Yintong Yang and Xinwen Zhang
    Citation: BMC Medical Genomics 2022 15:152
  34. Genome-wide Association Studies (GWAS) aims to uncover the link between genomic variation and phenotype. They have been actively applied in cancer biology to investigate associations between variations and can...

    Authors: Minsu Kim, Jennifer E. Huffman, Amy Justice, Ian Goethert, Greeshma Agasthya and Ioana Danciu
    Citation: BMC Medical Genomics 2022 15:151
  35. Atrial fibrillation (AF) is one of the most prevalent sustained cardiac arrhythmias. The latest studies have revealed a tight correlation between nonalcoholic fatty liver disease (NAFLD) and AF. However, the e...

    Authors: Yanan Chu, Fangcong Yu, Yakui Wu, Jinxiu Yang, Jiaran Shi, Tianxin Ye, Deheng Han and Xingxiang Wang
    Citation: BMC Medical Genomics 2022 15:150
  36. Polycystic ovary syndrome (PCOS) is a common endocrine disorder in premenopausal women, whose etiology remains uncertain, although it is known to be highly heterogeneous and genetically complex. PCOS often pre...

    Authors: Xinyue Ma, Zhao Wang, Changming Zhang, Yuehong Bian, Xin Zhang, Xin Liu, Yongzhi Cao and Yueran Zhao
    Citation: BMC Medical Genomics 2022 15:149
  37. Breast cancer (BRCA) is the primary cause of mortality among females globally. The combination of advanced genomic analysis with proteomics characterization to construct a protein prognostic model will help to...

    Authors: Bo Huang, Xujun Zhang, Qingyi Cao, Jianing Chen, Chenhong Lin, Tianxin Xiang and Ping Zeng
    Citation: BMC Medical Genomics 2022 15:148
  38. Aberrant alternative splicing (AS) contributes to tumor progression. Previous studies have shown that apurinic-apyrimidinic endonuclease-1 (APEX1) is involved in tumor progression. It is unknown whether APEX1 ...

    Authors: Li Peng, Yuwei Liu, Jing Chen, Mengxin Cheng, Ying Wu, Min Chen, Ya Zhong, Dan Shen, Ling Chen and Xujun Ye
    Citation: BMC Medical Genomics 2022 15:147
  39. This study identified underlying genetic molecules associated with histologically unstable carotid atherosclerotic plaques through bioinformatics analysis that may be potential biomarkers and therapeutic targets.

    Authors: Julong Guo, Yachan Ning, Zhixiang Su, Lianrui Guo and Yongquan Gu
    Citation: BMC Medical Genomics 2022 15:145
  40. Methamphetamine (METH) abuse causes serious health problems, including injury to the immune system, leading to increased incidence of infections and even making withdrawal more difficult. Of course, immune cel...

    Authors: Deshenyue Kong, Jun-Hong Mao, Hong Li, Jian-Yu Wang, Yu-Yang Li, Xiao-Cong Wu, Guo-Fen Re, Hua-You Luo, Yi-Qun Kuang and Kun-Hua Wang
    Citation: BMC Medical Genomics 2022 15:144
  41. Most colorectal cancers (CRC) arise from precursor lesions. This study aimed to characterize the mutation profile of colorectal cancer precursor lesions in a Brazilian population.

    Authors: Wellington dos Santos, Mariana Bisarro dos Reis, Jun Porto, Ana Carolina de Carvalho, Marcus Matsushita, Gabriela Oliveira, Kari Syrjänen, Rui Manuel Reis and Denise Peixoto Guimarães
    Citation: BMC Medical Genomics 2022 15:143

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