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  1. 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
  2. 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
  3. 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
  4. 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
  5. 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
  6. 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
  7. 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
  8. 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
  9. 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
  10. 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
  11. 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
  12. 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
  13. 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
  14. 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
  15. 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
  16. 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
  17. 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
  18. 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
  19. 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
  20. 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
  21. 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
  22. 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
  23. 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
  24. 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
  25. 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
  26. 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
  27. 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
  28. In recent years, drug screening has been one of the most significant challenges in the field of personalized medicine, particularly in cancer treatment. However, several new platforms have been introduced to a...

    Authors: Majid Mokhtari, Samane Khoshbakht, Mohammad Esmaeil Akbari and Sayyed Sajjad Moravveji
    Citation: BMC Medical Genomics 2023 16:328

    The Correction to this article has been published in BMC Medical Genomics 2024 17:13

  29. 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
  30. Long non-coding RNA (lncRNA) has been implicated in the pathogenesis of pulmonary tuberculosis (PTB). This study aims to investigate the involvement of lncRNA THRIL and HOTAIR gene single nucleotide polymorphisms...

    Authors: Li-Jun Wang, Rui Li, Tian-Ping Zhang and Hong-Miao Li
    Citation: BMC Medical Genomics 2023 16:326
  31. Embryo aneuploidy is a main of principal reason of pregnancy loss, in vitro fertilization (IVF) failure and birth defects in offspring. Previous researchs have demonstrated that Y chromosome AZFc microdeletion...

    Authors: Wei Jiang, Qijun Xie, Xin Li, Ye Yang, Ting Luan, Danyu Ni, Yuting Chen, Xinyu Wang, Chun Zhao and Xiufeng Ling
    Citation: BMC Medical Genomics 2023 16:324
  32. Severe combined immunodeficiency (SCID) is a group of fatal primary immunodeficiencies characterized by the severe impairment of T-cell differentiation. IL7R deficiency is a rare form of SCID that usually present...

    Authors: Lulu Yan, Yan He, Yuxin Zhang, Yingwen Liu, Limin Xu, Chunxiao Han, Yudan Zhao and Haibo Li
    Citation: BMC Medical Genomics 2023 16:323
  33. The research aimed to detect the association between single nucleotide polymorphisms (SNPs) in CYP4V2 gene and coronary heart disease (CHD) risk.

    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 2023 16:322
  34. Haploinsufficiency is widely accepted as the pathogenic mechanism of hereditary spastic paraplegias type 4 (SPG4). However, there are some cases that cannot be explained by reduced function of the spastin prot...

    Authors: Jie Wang, Yihan Wu, Hong Dong, Yunpeng Ji, Lichun Zhang, Yaxian Liu, Yueshi Liu, Xin Gao, Yueqi Jia and Xiaohua Wang
    Citation: BMC Medical Genomics 2023 16:321
  35. TMC1, which encodes transmembrane channel-like protein 1, forms the mechanoelectrical transduction (MET) channel in auditory hair cells, necessary for auditory function. TMC1 variants are known to cause autosomal...

    Authors: Sung Ho Cho, Yejin Yun, Dae Hee Lee, Joo Hyun Cha, So Min Lee, Jehyun Lee, Myung Hwan Suh, Jun Ho Lee, Seung-Ha Oh, Moo Kyun Park and Sang-Yeon Lee
    Citation: BMC Medical Genomics 2023 16:320
  36. The severity of chronic hepatitis C and susceptibility to hepatocellular carcinoma (HCC) are associated with genetic variations within vitamin D receptor (VDR) in several populations. This study aims to determ...

    Authors: Asmaa Samir El-masry, Amina M. Medhat, Mahmoud El-Bendary and Rania Hassan Mohamed
    Citation: BMC Medical Genomics 2023 16:319
  37. Short-rib polydactyly syndrome (SRPS) refers to a group of lethal skeletal dysplasias that can be difficult to differentiate between subtypes or from other non-lethal skeletal dysplasias such as Ellis-van Crev...

    Authors: Ying Peng, Lin Zhou, Jing Chen, Xiaoliang Huang, Jialun Pang, Jing Liu, Wanglan Tang, Shuting Yang, Changbiao Liang and Wanqin Xie
    Citation: BMC Medical Genomics 2023 16:318
  38. Glioma cells have increased intake and metabolism of methionine, which can be monitored with 11 C-L-methionine. However, a short half-life of 11 C (~ 20 min) limits its application in clinical practice. It is ...

    Authors: Sujin Zhou, Xianan Zhao, Shiwei Zhang, Xue Tian, Xuepeng Wang, Yunping Mu, Fanghong Li, Allan Z. Zhao and Zhenggang Zhao
    Citation: BMC Medical Genomics 2023 16:317
  39. Distal chromosome 16 duplication syndrome (also known as 16q partial trisomy) is a very rare genetic disorder recently described in few clinical reports. 16q trisomy is generally associated with a multisystemi...

    Authors: Antonino Moschella, Anna Paola Capra, Domenico Corica, Giorgia Pepe, Silvia Di Tommaso, Ester Sallicandro, Malgorzata G. Wasniewska, Silvana Briuglia and Tommaso Aversa
    Citation: BMC Medical Genomics 2023 16:315

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