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  1. To analyze chromosomal status in reserved multiple displacement amplification (MDA) products of embryos that result in miscarriages or live births.

    Authors: Guoxia Yang, Yan Xu, Yanhong Zeng, Jing Guo, Jiafu Pan, Canquan Zhou and Yanwen Xu
    Citation: BMC Medical Genomics 2022 15:35
  2. Precision medicine has increased the accuracy of cancer diagnosis and treatment, especially in the era of cancer immunotherapy. Despite recent advances in cancer immunotherapy, the overall survival rate of adv...

    Authors: Chang Li, Chen Tian, Yulan Zeng, Jinyan Liang, Qifan Yang, Feifei Gu, Yue Hu and Li Liu
    Citation: BMC Medical Genomics 2022 15:33
  3. The use of whole-genome sequencing in clinical practice has revealed variable genomic characteristics across cancer types, one of which is whole-genome doubling (WGD), which describes the duplication of a comp...

    Authors: Yuto Baba, Takeo Kosaka, Hiroaki Kobayashi, Kohei Nakamura, Shuji Mikami, Hiroshi Nishihara, Makoto Nakanishi and Mototsugu Oya
    Citation: BMC Medical Genomics 2022 15:32
  4. Variant interpretation is the main bottleneck in medical genomic sequencing efforts. This usually involves genome analysts manually searching through a multitude of independent databases, often with the aid of...

    Authors: Roozbeh Manshaei, Sean DeLong, Veronica Andric, Esha Joshi, John B. A. Okello, Priya Dhir, Cherith Somerville, Kirsten M. Farncombe, Kelsey Kalbfleisch, Rebekah K. Jobling, Stephen W. Scherer, Raymond H. Kim and S. Mohsen Hosseini
    Citation: BMC Medical Genomics 2022 15:31
  5. Pancreatic ductal adenocarcinoma (PDAC) is a lethal malignancy associated with a poor prognosis. High-throughput disease-related-gene expression data provide valuable information on gene interaction, which con...

    Authors: Zahra Shokati Eshkiki, Nasibeh Khayer, Atefeh Talebi, Reza Karbalaei and Abolfazl Akbari
    Citation: BMC Medical Genomics 2022 15:30
  6. Observational studies have suggested that obstructive sleep apnea (OSA) is in relation to atrial fibrillation (AF); however, these studies might be confounded and whether the relationship is causal remains unc...

    Authors: Lu Chen, Xingang Sun, Yuxian He, Yunlong Lu and Liangrong Zheng
    Citation: BMC Medical Genomics 2022 15:28
  7. Linkeropathies refers to a series of extremely rare hereditary connective tissue diseases affected by various glycosyltransferases in the biosynthesis of proteoglycans. We report for the first time two heteroz...

    Authors: Ying Li, Chuangwen Zhang, Hongyu Zhang, Weiqi Feng, Qiuji Wang and Ruixin Fan
    Citation: BMC Medical Genomics 2022 15:27
  8. Targeted Next Generation Sequencing is a common and powerful approach used in both clinical and research settings. However, at present, a large fraction of the acquired genetic information is not used since pa...

    Authors: M. Tarozzi, A. Bartoletti-Stella, D. Dall’Olio, T. Matteuzzi, S. Baiardi, P. Parchi, G. Castellani and S. Capellari
    Citation: BMC Medical Genomics 2022 15:26
  9. Mutations in the telomerase reverse transcriptase (TERT) promoter region have been proposed as novel mechanisms for the transcriptional activation of telomerase. Two recurrent mutations in the TERT promoter, C...

    Authors: So Young Kang, Deok Geun Kim, Hyunjin Kim, Yoon Ah Cho, Sang Yun Ha, Ghee Young Kwon, Kee-Taek Jang and Kyoung-Mee Kim
    Citation: BMC Medical Genomics 2022 15:25
  10. Pyroptosis can not only inhibit the occurrence and development of tumors but also develop a microenvironment conducive to cancer growth. However, pyroptosis research in prostate cancer (PCa) has rarely been re...

    Authors: Ding Hu, Qingfei Cao, Ming Tong, Chundong Ji, Zizhi Li, Weichao Huang, Yanyang Jin, Guangquan Tong, Yutao Wang, Pengfei Li and Huashan Zhang
    Citation: BMC Medical Genomics 2022 15:24
  11. Hydroxychloroquine (HCQ) is a cornerstone therapy for systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA). This study aimed to investigate the relationship of cytochrome P450 (CYP450) gene polymor...

    Authors: Beibei Gao, Tingfei Tan, Xi Cao, Menglu Pan, Chunlan Yang, Jianxiong Wang, Zongwen Shuai and Quan Xia
    Citation: BMC Medical Genomics 2022 15:23
  12. Previous studies on the relationship between ACE I/D, ACE2 G8790A and CYP11B2-344T/C gene polymorphisms and essential hypertension (EH) were inconsistent. Moreover, few studies have reported the combined effec...

    Authors: Xiaohong Zhang, Ying Wang, Yao Zheng, Juxiang Yuan, Junwang Tong, Jingya Xu, Qinglin Li, Peishuai Li, Shoufang Jiang, Zhaoyang Wang, Feng Chai and Xiangwen Li
    Citation: BMC Medical Genomics 2022 15:22
  13. Acute lymphoblastic leukemia is the most common type of cancer in children. Most often it affects the age group between 2 and 5 years of age. Studies have shown an improvement in general survivability, more th...

    Authors: Aleksandra Mroczkowska, Bożena Jaźwiec, Justyna Urbańska-Rakus, Sylwia Szymanowska, Anna Tessmann, Sonia Pająk, Katarzyna Machnik, Olga Haus and Tomasz Wróbel
    Citation: BMC Medical Genomics 2022 15:20
  14. SOX3 is essential for pituitary development normally at the earliest stages of development. In humans, variants of SOX3 can cause X-linked hypopituitarism with various clinical manifestations, with or without men...

    Authors: Caiqi Du, Feiya Wang, Zhuoguang Li, Mini Zhang, Xiao Yu, Yan Liang and Xiaoping Luo
    Citation: BMC Medical Genomics 2022 15:19
  15. Hereditary hearing loss (HHL) is a common heterogeneous disorder affecting all ages, ethnicities, and genders. The most common form of HHL is autosomal recessive non-syndromic hearing loss (ARNSHL), in which t...

    Authors: Tohid Ghasemnejad, Mahmoud Shekari Khaniani, Jafar Nouri Nojadeh and Sima Mansoori Derakhshan
    Citation: BMC Medical Genomics 2022 15:18
  16. Although differential expression of genes is apparent during the adipogenic/osteogenic differentiation of marrow mesenchymal stem cells (MSCs), it is not known whether this is associated with changes in chromo...

    Authors: Jianyun Liu, Lijun Gan, Baichen Ma, Shan He, Ping Wu, Huiming Li and Jianjun Xiong
    Citation: BMC Medical Genomics 2022 15:17
  17. Roberts syndrome (RBS) is a rare autosomal recessive disorder caused by variations in the ESCO2 gene; however, prenatal diagnosis of RBS has never been reported in Chinese families. Additionally, fetal-specific p...

    Authors: LiFen Zhu, DingYa Cao, Min Chen, Huimin Zhang, XiaoFang Sun and WeiQiang Liu
    Citation: BMC Medical Genomics 2022 15:16
  18. Determining the prognosis of lung adenocarcinoma (LUAD) is challenging. The present study aimed to identify prognostic ferroptosis-related long noncoding RNAs (FRLs) and construct a prognostic model. Moreover,...

    Authors: Chen Gao, Ning Kong, Fan Zhang, Tianyu Tang, Jiaying Li, Honglei Ding, Zhichao Sun, Linyu Wu and Maosheng Xu
    Citation: BMC Medical Genomics 2022 15:15
  19. Cerebral palsy (CP) is a spectrum of non-progressive motor disorders caused by brain injury during fetal or postnatal periods. Current diagnosis of CP mainly relies on neuroimaging and motor assessment. Here, ...

    Authors: Yuanyuan Hu, Xuzhao Bian, Chao Wu, Yan Wang, Yang Wu, Xiaoqin Gu, Suyan Zhuo and Shiquan Sun
    Citation: BMC Medical Genomics 2022 15:13
  20. Hearing loss (HL) is the most frequent sensory deficit in humans, HL has strong genetic heterogeneity. The genetic diagnosis of HL is very important to aid treatment decisions and to provide prognostic informa...

    Authors: Xiaohua Jin, Shasha Huang, Lisha An, Chuan Zhang, Pu Dai, Huafang Gao and Xu Ma
    Citation: BMC Medical Genomics 2022 15:12
  21. Authors: Somprakash Dhangar, Purvi Panchal, Jagdeeshwar Ghatanatti, Jitendra Suralkar, Anjali Shah and Babu Rao Vundinti
    Citation: BMC Medical Genomics 2022 15:11

    The original article was published in BMC Medical Genomics 2022 15:2

  22. The Philadelphia (Ph)-negative myeloproliferative neoplasms (MPNs), namely essential thrombocythaemia (ET), polycythaemia vera (PV) and primary myelofibrosis (PMF), are a group of chronic clonal haematopoietic...

    Authors: Jaymi Tan, Yock Ping Chow, Norziha Zainul Abidin, Kian Meng Chang, Veena Selvaratnam, Nor Rafeah Tumian, Yang Ming Poh, Abhi Veerakumarasivam, Michael Arthur Laffan and Chieh Lee Wong
    Citation: BMC Medical Genomics 2022 15:10
  23. Pain is a complex polygenic trait whose common genetic underpinnings are relatively ill-defined due in part to challenges in measuring pain as a phenotype. Pain sensitivity can be quantified, but this is diffi...

    Authors: Aidan P. Nickerson, Laura J. Corbin, Nicholas J. Timpson, Keith Phillips, Anthony E. Pickering and James P. Dunham
    Citation: BMC Medical Genomics 2022 15:9
  24. Colorectal cancer (CRC) is one of the common cancers with a high mortality rate worldwide. In Iran, there has been a trend of increased incidence of colorectal cancer in the last three decades that necessitate...

    Authors: Maryam Alidoust, Leila Hamzehzadeh, Asma Khorshid Shamshiri, Fahimeh Afzaljavan, Mohammad Amin Kerachian, Azar Fanipakdel, Seyed Amir Aledavood, Abolghasem Allahyari, Alireza Bari, Hooman Moosanen Mozaffari, Ladan Goshayeshi and Alireza Pasdar
    Citation: BMC Medical Genomics 2022 15:8
  25. Kidney stone disease (KSD) is a multifactorial disease involving both environmental and genetic factors, whose pathogenesis remains unclear. This study aims to explore the hub genes related to stone formation ...

    Authors: Sen-Yuan Hong, Qi-Dong Xia, Jin-Zhou Xu, Chen-Qian Liu, Jian-Xuan Sun, Yang Xun and Shao-Gang Wang
    Citation: BMC Medical Genomics 2022 15:7
  26. Secretory carcinoma (SC) of the salivary gland is a recently described malignant tumor harboring characteristic ETV6-NTRK3 gene fusion. SC generally has a favorable clinical course, and is currently regarded as a...

    Authors: Kensuke Suzuki, Hiroshi Harada, Masayuki Takeda, Chisato Ohe, Yoshiko Uemura, Akihiko Kawahara, Shunsuke Sawada, Akira Kanda, Bhaswati Sengupta and Hiroshi Iwai
    Citation: BMC Medical Genomics 2022 15:6
  27. Ichthyosis is a heterogeneous group of Mendelian cornification disorders that includes syndromic and non-syndromic forms. Autosomal Recessive Congenital Ichthyosis (ARCI) and Ichthyosis Linearis Circumflexa (I...

    Authors: Mariem Ennouri, Andreas D. Zimmer, Emna Bahloul, Rim Chaabouni, Slaheddine Marrakchi, Hamida Turki, Faiza Fakhfakh, Noura Bougacha-Elleuch and Judith Fischer
    Citation: BMC Medical Genomics 2022 15:4
  28. Few studies have annotated the whole mitochondrial DNA (mtDNA) genome associated with drug responses in Asian populations. This study aimed to characterize mtDNA genetic profiles, especially the distribution a...

    Authors: Vinh Hoa Pham, Van Lam Nguyen, Hye-Eun Jung, Yong-Soon Cho and Jae-Gook Shin
    Citation: BMC Medical Genomics 2022 15:3
  29. Oculocutaneous albinism (OCA) is an autosomal recessive disorder characterized by hypo-pigmentation of skin, hair, and eyes. The OCA clinical presentation is due to a deficiency of melanin biosynthesis. Intell...

    Authors: Somprakash Dhangar, Purvi Panchal, Jagdeeshwar Ghatanatti, Jitendra Suralkar, Anjali Shah and Babu Rao Vundinti
    Citation: BMC Medical Genomics 2022 15:2

    The Correction to this article has been published in BMC Medical Genomics 2022 15:11

  30. Renal collecting duct carcinoma (CDC) is a rare and lethal subtype of renal cell carcinoma (RCC). The genomic profile of the Chinese population with CDC remains unclear. In addition, clinical treatments are co...

    Authors: Huaru Zhang, Xiaojun Lu, Gang Huang, Meimian Hua, Wenhui Zhang, Tao Wang, Liqun Huang, Ziwei Wang, Qing Chen, Jing Li, Qing Yang and Guosheng Yang
    Citation: BMC Medical Genomics 2022 15:1
  31. Myelodysplastic syndrome (MDS) is a group of clonal disorders characterized by ineffective and dysplastic hematopoiesis in the bone marrow with a high risk of progression to leukemia. Many studies have demonst...

    Authors: Yongzhi Feng, Xialin Chen, Keran Jiang, Ding Zhang, Feng Tao, Dan Ni, Jun Zhang, Lixin Wu, Jinping Cai, Libin Jiang, GenHua Yu and Lin Shi
    Citation: BMC Medical Genomics 2021 14:299
  32. Mutation processes leave different signatures in genes. For single-base substitutions, previous studies have suggested that mutation signatures are not only reflected in mutation bases but also in neighboring ...

    Authors: Hongchen Ji, Junjie Li, Qiong Zhang, Jingyue Yang, Juanli Duan, Xiaowen Wang, Ben Ma, Zhuochao Zhang, Wei Pan and Hongmei Zhang
    Citation: BMC Medical Genomics 2021 14:298
  33. Arboleda-Tham syndrome (ARTHS), caused by a pathogenic variant of KAT6A, is an autosomal dominant inherited genetic disorder characterized by various degrees of developmental delay, dysmorphic facial appearance, ...

    Authors: Soyoung Bae, Aram Yang, Jinsup Kim, Hyun Ju Lee and Hyun Kyung Park
    Citation: BMC Medical Genomics 2021 14:297
  34. X-linked sideroblastic anaemia (XLSA) is commonly due to mutations in the ALAS2 gene and predominantly affects hemizygous males. Heterozygous female carriers of the ALAS2 gene mutation are often asymptomatic or o...

    Authors: Diane Nzelu, Panicos Shangaris, Lisa Story, Frances Smith, Chinthika Piyasena, Jayanthi Alamelu, Amira Elmakky, Maria Pelidis, Rachel Mayhew and Srividhya Sankaran
    Citation: BMC Medical Genomics 2021 14:296
  35. Despite significant therapeutic advances in improving lives of multiple myeloma (MM) patients, it remains mostly incurable, with patients ultimately becoming refractory to therapies. MM is a genetically hetero...

    Authors: María Ortiz-Estévez, Fadi Towfic, Erin Flynt, Nicholas Stong, In Sock Jang, Kai Wang, Matthew W. B. Trotter and Anjan Thakurta
    Citation: BMC Medical Genomics 2021 14:295
  36. An amendment to this paper has been published and can be accessed via a link at the top of the paper.

    Authors: Latifa Chkioua, Yessine Amri, Sahli Chaima, Ferdawes Fenni, Hela Boudabous, Hadhami Ben Turkia, Taieb Messaoud, Neji Tebib and Sandrine Laradi
    Citation: BMC Medical Genomics 2021 14:293

    The original article was published in BMC Medical Genomics 2021 14:208

  37. Virus screening and viral genome reconstruction are urgent and crucial for the rapid identification of viral pathogens, i.e., tracing the source and understanding the pathogenesis when a viral outbreak occurs....

    Authors: Shiyang Song, Liangxiao Ma, Xintian Xu, Han Shi, Xuan Li, Yuanhua Liu and Pei Hao
    Citation: BMC Medical Genomics 2021 14(Suppl 6):289

    This article is part of a Supplement: Volume 14 Supplement 6

  38. The aim of this study was to assess the detection efficiency and clinical application value of non-invasive prenatal testing (NIPT) for foetal copy number variants (CNVs) in clinical samples from 39,002 prospe...

    Authors: Chaohong Wang, Junxiang Tang, Keting Tong, Daoqi Huang, Huayu Tu, Qingnan Li and Jiansheng Zhu
    Citation: BMC Medical Genomics 2021 14:292
  39. Extramammary Paget’s disease (EMPD) is a rare malignant intraepidermal adenocarcinoma that is poorly understood. Regulatory long noncoding RNAs (lncRNAs) are characterized in many species and shown to be invol...

    Authors: Da-chao Zheng, Yan-ting Shen, Zi-wei Wei, Xiang Wan, Min-kai Xie, Hai-jun Yao and Zhong Wang
    Citation: BMC Medical Genomics 2021 14:291
  40. Increasing amount of long non-coding RNAs (lncRNAs) have been found involving in many biological processes and played salient roles in cancers. However, up until recently, functions of most lncRNAs in lung can...

    Authors: Albert Li, Wen-Hsuan Yu, Chia-Lang Hsu, Hsuan-Cheng Huang and Hsueh-Fen Juan
    Citation: BMC Medical Genomics 2021 14(Suppl 3):290

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

  41. Hereditary hemorrhagic telangiectasia (HHT) is a dominantly inherited vascular disorder characterized by recurrent epistaxis, skin/mucocutaneous telangiectasia, and organ/visceral arteriovenous malformations (...

    Authors: Kana Kitayama, Tomoya Ishiguro, Masaki Komiyama, Takayuki Morisaki, Hiroko Morisaki, Gaku Minase, Kohei Hamanaka, Satoko Miyatake, Naomichi Matsumoto, Masaru Kato, Toru Takahashi and Tohru Yorifuji
    Citation: BMC Medical Genomics 2021 14:288
  42. Although great efforts have been made to study the occurrence and development of glioma, the molecular mechanisms of glioma are still unclear. Single-cell sequencing technology provides a new perspective for r...

    Authors: Guimin Qin, Longting Du, Yuying Ma, Yu Yin and Liming Wang
    Citation: BMC Medical Genomics 2021 14:287
  43. Non-small cell lung cancer (NSCLC) is the most prevalent type of lung carcinoma with an unfavorable prognosis. Ferroptosis is involved in the development of multiple cancers. Whereas, the prognostic value of f...

    Authors: Meng Li, Yanpeng Zhang, Meng Fan, Hui Ren, Mingwei Chen and Puyu Shi
    Citation: BMC Medical Genomics 2021 14:286
  44. Ovarian serous cystadenocarcinoma is one of the most serious gynecological malignancies. Circular RNA (circRNA) is a type of noncoding RNA with a covalently closed continuous loop structure. Abnormal circRNA e...

    Authors: Minhui Zhuang, Jian Zhao, Jing Wu, Shilong Fu, Ping Han and Xiaofeng Song
    Citation: BMC Medical Genomics 2021 14(Suppl 2):276

    This article is part of a Supplement: Volume 14 Supplement 2

  45. While most differential coexpression (DC) methods are bound to quantify a single correlation value for a gene pair across multiple samples, a newly devised approach under the name Correlation by Individual Lev...

    Authors: Hui Yu, Limei Wang, Danqian Chen, Jin Li and Yan Guo
    Citation: BMC Medical Genomics 2021 14(Suppl 2):101

    This article is part of a Supplement: Volume 14 Supplement 2

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