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  1. Genetic testing is widely used in diagnosing genetic hearing loss in patients. Other than providing genetic etiology, the benefits of genetic testing in pediatric patients with hearing loss are less investigated.

    Authors: Jiale Xiang, Yuan Jin, Nana Song, Sen Chen, Jiankun Shen, Wen Xie, Xiangzhong Sun, Zhiyu Peng and Yu Sun
    Citation: BMC Medical Genomics 2022 15:142
  2. Targeted therapy has revolutionized the treatment of patients with malignancies harboring mutations in driver genes and has brought a favorable survival benefit to the population with actionable oncogenic muta...

    Authors: Yan Chen, Bo Jiang, Yuange He, Chu Zhang, Wenjie Zhou, Cheng Fang, Dejian Gu, Minxia Zhang, Mei Ji, Juntao Shi and Xin Yang
    Citation: BMC Medical Genomics 2022 15:141
  3. This study aimed to identify the differentially expressed mRNAs and lncRNAs in inflammatory long head of biceps tendon (LHBT) of rotator cuff tear (RCT) patients and further explore the function and potential ...

    Authors: Yi-Ming Ren, Yuan-Hui Duan, Yun-Bo Sun, Tao Yang, Wei-Yu Hou, Chang Liu and Meng-Qiang Tian
    Citation: BMC Medical Genomics 2022 15:140
  4. Dysferlinopathy encompasses a group of rare muscular dystrophies caused by recessive mutations in the DYSF gene. The phenotype ranges from asymptomatic elevated serum creatine kinase (hyperCKemia) to selective an...

    Authors: Cecilia Contreras-Cubas, Francisco Barajas-Olmos, Maria Inés Frayre-Martínez, Georgina Siordia-Reyes, Claudia C. Guízar-Sánchez, Humberto García-Ortiz, Lorena Orozco and Vicente Baca
    Citation: BMC Medical Genomics 2022 15:139
  5. Abnormalities in homologous recombination contribute to the aggressive nature of castration-resistant prostate cancer. Retinoblastoma transcriptional corepressor 1 (RB1) and breast cancer 2 (BRCA2) exist close to...

    Authors: Tomohiro Iwasawa, Takeo Kosaka, Shinya Morita, Shuji Mikami, Kohei Nakamura, Hiroshi Hongo, Hiroshi Nishihara and Mototsugu Oya
    Citation: BMC Medical Genomics 2022 15:138
  6. Non-obstructive azoospermia (NOA) is the most severe disease in male infertility, but the genetic causes for majority of NOA remain unknown.

    Authors: Yuhua Huang, Ruhui Tian, Junwei Xu, Zhiyong Ji, Yuxiang Zhang, Liangyu Zhao, Chao Yang, Peng Li, Erlei Zhi, Haowei Bai, Sha Han, Jiaqiang Luo, Jingpeng Zhao, Jing Zhang, Zhi Zhou, Zheng Li…
    Citation: BMC Medical Genomics 2022 15:137
  7. Uniparental disomy (UPD) is a condition in which both chromosomes are inherited from the same parent, except for imprinting disorders. Uniparental isodisomy (UPiD) may result in a homozygous variant contributi...

    Authors: Yao Wang, Dong Yu, Wei Wei, Hao Zheng, Ming-Hua Liu, Long Ma, Li-Na Qin, Neng-Zhuang Wang, Jia-Xi Li, Jin-Jiang Wang, Xin-Ling Bi and Hong-Li Yan
    Citation: BMC Medical Genomics 2022 15:136
  8. Hearing loss is the most common sensory neural disorder in humans, and according to a WHO estimation, 5.5% (466 million) of people worldwide have disabling hearing loss. In this study, a Chinese family with pr...

    Authors: Qiang Du, Qin Sun, Xiaodong Gu, Jinchao Wang, Weitao Li, Luo Guo and Huawei Li
    Citation: BMC Medical Genomics 2022 15:135
  9. Hepatitis B virus (HBV) related hepatocellular carcinoma (HCC) is heterogeneous and frequently contains multifocal tumors, but how the multifocal tumors relate to each other in terms of HBV integration and oth...

    Authors: Wenhui Wang, Yan Chen, Liang Wu, Yi Zhang, Seungyeul Yoo, Quan Chen, Shiping Liu, Yong Hou, Xiao-ping Chen, Qian Chen and Jun Zhu
    Citation: BMC Medical Genomics 2022 15:134
  10. Transmembrane inner ear (TMIE) protein is an essential component of the mechanotransduction complex. In collaboration with other components, TMIE aids the maintenance and function of the sensory hair cells. Au...

    Authors: Sima Rayat, Mohammad Farhadi, Hessamaldin Emamdjomeh, Saeid Morovvati and Masoumeh Falah
    Citation: BMC Medical Genomics 2022 15:133
  11. Fat mass and obesity-related (FTO) mRNA was downregulated in osteonecrosis patients. The study aimed to evaluate the correlation between FTO polymorphisms and the susceptibility of osteonecrosis of the femoral he...

    Authors: Yuan Wang, Wei Zhong, Shaofeng Wang, Yang Yang and Bing Zhu
    Citation: BMC Medical Genomics 2022 15:132
  12. Authors: E. Zeynep Erson-Omay, Shaurey Vetsa, Sagar Vasandani, Tanyeri Barak, Arushii Nadar, Neelan J. Marianayagam, Kanat Yalcin, Danielle Miyagishima, Stephanie Marie Aguilera, Stephanie Robert, Ketu Mishra-Gorur, Robert K. Fulbright, Declan McGuone, Murat Günel and Jennifer Moliterno
    Citation: BMC Medical Genomics 2022 15:131

    The original article was published in BMC Medical Genomics 2022 15:112

  13. As a well-known protein, Bid links the extrinsic and intrinsic apoptotic pathways and plays important roles in cell proliferation. In this study, we evaluated the expression of two isoforms of the Bid gene (Bi...

    Authors: Flora Forouzesh, Fatemeh Sadat Kia and Ehsan Nazemalhosseini-Mojarad
    Citation: BMC Medical Genomics 2022 15:129
  14. Gorham-Stout disease is a rare condition characterized by vascular proliferation and the massive destruction of bone tissue. With less than 400 cases in the literature of Gorham-Stout syndrome, we performed a ...

    Authors: Marcos Yébenes Mayordomo, Sofian Al Shboul, Maria Gómez-Herranz, Asim Azfer, Alison Meynert, Donald Salter, Larry Hayward, Anca Oniscu, James T. Patton, Ted Hupp, Mark J. Arends and Javier Antonio Alfaro
    Citation: BMC Medical Genomics 2022 15:128
  15. Variants in the CASK gene result in a wide range of observed phenotypes in humans, such as FG Syndrome 4 and intellectual disabilities. Intellectual developmental disorder with microcephaly and pontine and cerebe...

    Authors: Sixian Wu, Chuan Jiang, Jiaman Li, Guohui Zhang, Ying Shen and Jing Wang
    Citation: BMC Medical Genomics 2022 15:127
  16. Noninvasive prenatal testing (NIPT) is the testing of blood samples from pregnant women to screen for fetal risk of chromosomal disorders. Even though in vitro hemolysis of blood specimens is common in clinica...

    Authors: Yaya Guo, Dandan Yu, Kaisu Zhou, Jie Wang, Dongzhu Lei, Zhenpeng Xu, Weijiang Tang, Miaofeng Wu, Xingxing Fang, Jiankun Shen, Zhiyu Peng and Jiale Xiang
    Citation: BMC Medical Genomics 2022 15:125
  17. Prostate cancer (Pca) is a public health problem that affects men, usually of middle age or older. It is the second most common cancer diagnosed in men and the fifth leading cause of death. The RNASEL gene locate...

    Authors: Essonan Kadanga, Abdou Azaque Zouré, Théodora M. Zohoncon, Lassina Traoré, Bienvenu Désiré Ky, Albert Théophane Yonli, Djé Djénèba Aïda Traoré, Bapio Valery Jean Télesphore Elvira Bazié, Herman Karim Sombié, Pegdwendé Abel Sorgho, Sessi Frida Appoline Tovo, Kalifou Traoré, Teega-Wendé Clarisse Ouedraogo, Florencia W. Djigma and Jacques Simpore
    Citation: BMC Medical Genomics 2022 15:123
  18. The popularity of multigene testing increases the probability of identifying variants of uncertain significance (VUS). While accurate variant interpretation enables clinicians to be better informed of the gene...

    Authors: Ava Kwong, Cecilia Yuen Sze Ho, Vivian Yvonne Shin, Chun Hang Au, Tsun-Leung Chan and Edmond Shiu Kwan Ma
    Citation: BMC Medical Genomics 2022 15:122
  19. The mitochondrial 12S rRNA A1555G mutation is the most prevalent deafness-causing mitochondrial DNA (mtDNA) mutation and is inherited maternally. Studies have suggested that A1555G mutations have multiple orig...

    Authors: Ping Gu, Guojian Wang, Xue Gao, Dongyang Kang, Pu Dai and Shasha Huang
    Citation: BMC Medical Genomics 2022 15:121
  20. Sickle cell disease (SCD) is a hemoglobin disorders that concern 300,000 newborns each year around the world. There are hemoglobin haplotypes that affect SCD clinic expression.

    Authors: Tosséa A. Stéphane Koui, Alloh Albert Gnondjui, Adji Eric Gbessi, Ako Aristide Bérenger Ako, Baba Coulibaly, A. Delpêche Aka, Bi Sery E. Gonedele, Offiana André Toure and Ronan Jambou
    Citation: BMC Medical Genomics 2022 15:120
  21. The role of copy number variants (CNVs) in susceptibility to asthma is not well understood. This is, in part, due to the difficulty of accurately measuring CNVs in large enough sample sizes to detect associati...

    Authors: Katherine A. Fawcett, German Demidov, Nick Shrine, Megan L. Paynton, Stephan Ossowski, Ian Sayers, Louise V. Wain and Edward J. Hollox
    Citation: BMC Medical Genomics 2022 15:119
  22. Prostate cancer (PC) is mainly known to metastasize to bone, lung and liver, but isolated metastases of prostate cancer, including ductal carcinoma, in the urinary tract are very rare. We describe two patients...

    Authors: Tsukasa Masuda, Takeo Kosaka, Kohei Nakamura, Hiroshi Hongo, Kazuyuki Yuge, Hiroshi Nishihara and Mototsugu Oya
    Citation: BMC Medical Genomics 2022 15:118
  23. Small cell lung cancer (SCLC) is an aggressive disease with poor survival. Although molecular and clinical characteristics have been established for SCLC in western patients, limited investigation has been per...

    Authors: Jun Liu, Zhuxiang Zhao, Shuquan Wei, Binkai Li and Ziwen Zhao
    Citation: BMC Medical Genomics 2022 15:117
  24. Alzheimer’s disease (AD) is one of the most common neurodegenerative disorders characterized by progressive decline in cognitive function. Targeted genetic analyses, genome-wide association studies, and imagin...

    Authors: Jae Young Baik, Mansu Kim, Jingxuan Bao, Qi Long and Li Shen
    Citation: BMC Medical Genomics 2022 15(Suppl 2):116

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

  25. Idiopathic Scoliosis (IS) is the most common spinal deformity in adolescents, accounting for 80% of all spinal deformities. However, the etiology remains uncertain in most cases, being identified as Adolescent...

    Authors: Sergio De Salvatore, Laura Ruzzini, Umile Giuseppe Longo, Martina Marino, Alessandra Greco, Ilaria Piergentili, Pier Francesco Costici and Vincenzo Denaro
    Citation: BMC Medical Genomics 2022 15:115
  26. Hereditary hearing loss is a heterogeneous class of disorders that exhibits various patterns of inheritance and involves many genes. Variants in the EYA4 gene in DFNA10 are known to lead to postlingual, progressi...

    Authors: Weixun Zhang, Jing Song, Busheng Tong, Mengye Ma, Luo Guo, Yasheng Yuan and Juanmei Yang
    Citation: BMC Medical Genomics 2022 15:113
  27. Multiple meningiomas (MMs) rarely occur sporadically. It is unclear whether each individual tumor in a single patient behaves similarly. Moreover, the molecular mechanisms underlying the formation of sporadic ...

    Authors: E. Zeynep Erson-Omay, Shaurey Vetsa, Sagar Vasandani, Tanyeri Barak, Arushii Nadar, Neelan J. Marianayagam, Kanat Yalcin, Danielle Miyagishima, Stephanie Marie Aguilera, Stephanie Robert, Ketu Mishra-Gorur, Robert K. Fulbright, Declan McGuone, Murat Günel and Jennifer Moliterno
    Citation: BMC Medical Genomics 2022 15:112

    The Correction to this article has been published in BMC Medical Genomics 2022 15:131

  28. Asthma is a chronic lung disease characterized by reversible inflammation of the airways. The imbalance of Th1/Th2 cells plays a significant role in the mechanisms of asthma. The aim of this study was to ident...

    Authors: Yao Cao, Yi Wu, Li Lin, Lin Yang, Xin Peng and Lina Chen
    Citation: BMC Medical Genomics 2022 15:110
  29. Recurrent Kidney stone formation is a main medical problem imposing a significant burden on both healthcare and the economy worldwide. Environmental and genetic factors have been linked to a bigger risk of kid...

    Authors: Fatemeh Khatami, Alireza Gorji, Mahdi Khoshchehreh, Rahil Mashhadi, Mahin Ahmadi Pishkuhi, Alireza Khajavi, Alireza Namazi Shabestari and Seyed Mohammad Kazem Aghamir
    Citation: BMC Medical Genomics 2022 15:109
  30. The clinical consequences of atherosclerosis are significant source of morbidity and mortality throughout the world, while the molecular mechanisms of the pathogenesis of atherosclerosis are largely unknown.

    Authors: Yihong Yin, Zhaohong Xie, Dong Chen, Hao Guo, Min Han, Zhengyu Zhu and Jianzhong Bi
    Citation: BMC Medical Genomics 2022 15:108
  31. Tumor microenvironment plays pivotal roles in carcinogenesis, cancer development and metastasis. Composition of cancer immune cell subsets can be inferred by deconvolution of gene expression profile accurately...

    Authors: Min Zhu, Xingjie Li, Xu Cheng, Xingxu Yi, Fang Ye, Xiaolai Li, Zongtao Hu, Liwei Zhang, Jinfu Nie and Xueling Li
    Citation: BMC Medical Genomics 2022 15(Suppl 2):107

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

  32. Dilated cardiomyopathy (DCM) is characterized by the dilation and impaired contraction of 1 or both ventricles and can be caused by a variety of disorders. Up to 50% of idiopathic DCM cases have heritable fami...

    Authors: Mahshid Malakootian, Mahrokh Bagheri Moghaddam, Samira Kalayinia, Melody Farrashi, Majid Maleki, Parham Sadeghipour and Ahmad Amin
    Citation: BMC Medical Genomics 2022 15:106
  33. Breast cancer (BC) is the leading cause of death among women, and epigenetic alterations that can dysregulate long noncoding RNAs (lncRNAs) are thought to be associated with cancer metabolism, development, and...

    Authors: Yu Song, Songjie Shen and Qiang Sun
    Citation: BMC Medical Genomics 2022 15:105
  34. Non-invasive, especially the urine-based diagnosis of prostate cancer (PCa) remains challenging. Although prostate cancer antigen (PSA) is widely used in prostate cancer screening, the false positives may resu...

    Authors: Youyan Guan, Xiaobing Wang, Kaopeng Guan, Dong Wang, Xingang Bi, Zhendong Xiao, Zejun Xiao, Xingli Shan, Linjun Hu, Jianhui Ma, Changling Li, Yong Zhang, Jianzhong Shou, Baiyun Wang, Ziliang Qian and Nianzeng Xing
    Citation: BMC Medical Genomics 2022 15(Suppl 2):104

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

  35. Recently, non-coding RNAs are of growing interest, and more scientists attach importance to research on their functions. Long non-coding RNAs (lncRNAs) are defined as non-protein coding transcripts longer than...

    Authors: Wen-Hsuan Yu, Chia-Lang Hsu, Chen-Ching Lin, Yen-Jen Oyang, Hsueh-Fen Juan and Hsuan-Cheng Huang
    Citation: BMC Medical Genomics 2022 14(Suppl 3):300

    This article is part of a Supplement: Volume 14 Supplement 3

  36. Despite deeper understanding of the genetic landscape of acute myeloid leukemia (AML), the improvement of survival is still a great challenge. STK10 is overexpressed in several cancers with functions varying acco...

    Authors: Lei Bi, Shuangshuang Jia, Wuyue Hu, Xiaoli Su, Xiequn Chen and Hailong Tang
    Citation: BMC Medical Genomics 2022 15:101
  37. For the most part, genome-wide association studies (GWAS) have only partially explained the heritability of complex diseases. One of their limitations is to assume independent contributions of individual varia...

    Authors: Lotfi Slim, Clément Chatelain, Hélène de Foucauld and Chloé-Agathe Azencott
    Citation: BMC Medical Genomics 2022 15:100
  38. Inflammation plays an important role in all the stages of atherosclerotic plaque development. The current study aimed at assessing the altered expression of genes functioning in inflammation within the early s...

    Authors: Sonia Verma, Abhay Kumar, Rajiv Narang, Akshya K. Bisoi and Dipendra K. Mitra
    Citation: BMC Medical Genomics 2022 15:99
  39. Founder populations that have recently undergone important genetic bottlenecks such as French-Canadians and Ashkenazi Jews can harbor some pathogenic variants at a higher carrier rate than the general populati...

    Authors: Philippe Pierre Robichaud, Eric P. Allain, Sarah Belbraouet, Claude Bhérer, Jean Mamelona, Jason Harquail, Stéphanie Crapoulet, Nicolas Crapoulet, Mathieu Bélanger and Mouna Ben Amor
    Citation: BMC Medical Genomics 2022 15:98
  40. The recent development and enormous application of parallel sequencing technology in oncology has produced immense amounts of cell-specific genetic information. However, publicly available cell-specific geneti...

    Authors: Turki M. Sobahy, Ghassan Tashkandi, Donya Bahussain and Raneem Al-Harbi
    Citation: BMC Medical Genomics 2022 15:95
  41. Large-scale genome-wide association studies have successfully identified many genetic variants significantly associated with Alzheimer’s disease (AD), such as rs429358, rs11038106, rs723804, rs13591776, and mo...

    Authors: Pradeep Varathan, Priyanka Gorijala, Tanner Jacobson, Danai Chasioti, Kwangsik Nho, Shannon L. Risacher, Andrew J. Saykin and Jingwen Yan
    Citation: BMC Medical Genomics 2022 15(Suppl 2):93

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

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