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  1. 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
  2. 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
  3. 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
  4. 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

  5. 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
  6. 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
  7. 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
  8. 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
  9. 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
  10. 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
  11. 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

  12. 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

  13. 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
  14. 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
  15. 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

  16. 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
  17. 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
  18. 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
  19. 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

  20. 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

  21. Multi-sample comparison is commonly used in cancer genomics studies. By using next-generation sequencing (NGS), a mutation's status in a specific sample can be measured by the number of reads supporting mutant...

    Authors: Nicholas Hutson, Fenglin Zhan, James Graham, Mitsuko Murakami, Han Zhang, Sujana Ganaparti, Qiang Hu, Li Yan, Changxing Ma, Song Liu, Jun Xie and Lei Wei
    Citation: BMC Medical Genomics 2021 14(Suppl 2):32

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

  22. We previously identified differentially expressed genes on the basis of false discovery rate adjusted P value using empirical Bayes moderated tests. However, that approach yielded a subset of differentially expre...

    Authors: Eliezer Bose, Elijah Paintsil and Musie Ghebremichael
    Citation: BMC Medical Genomics 2021 14:285
  23. Three genes clustered together on chromosome 12 comprise a group of hydroxycarboxylic acid receptors (HCARs): HCAR1, HCAR2, and HCAR3. These paralogous genes encode different G-protein coupled receptors responsib...

    Authors: Cierla McGuire Sams, Kasey Shepp, Jada Pugh, Madison R. Bishop and Nancy D. Merner
    Citation: BMC Medical Genomics 2021 14:284
  24. Chronic chagasic cardiomyopathy (CCC) is the leading cause of heart failure in Latin America and often causes severe inflammation and fibrosis in the heart. Studies on myocardial function and its molecular mec...

    Authors: Jiahe Wu, Jianlei Cao, Yongzhen Fan, Chenze Li and Xiaorong Hu
    Citation: BMC Medical Genomics 2021 14:283
  25. Cancer metastasis into distant organs is an evolutionarily selective process. A better understanding of the driving forces endowing proliferative plasticity of tumor seeds in distant soils is required to devel...

    Authors: Michael Skaro, Marcus Hill, Yi Zhou, Shannon Quinn, Melissa B. Davis, Andrea Sboner, Mandi Murph and Jonathan Arnold
    Citation: BMC Medical Genomics 2021 14:281
  26. Incidence of testicular cancer is highest among young adults and has been increasing dramatically for men born since 1945. This study aimed to elucidate the factors driving this trend by investigating differen...

    Authors: Nicole E. Mealey, Dylan E. O’Sullivan, Cheryl E. Peters, Daniel Y. C. Heng and Darren R. Brenner
    Citation: BMC Medical Genomics 2021 14:280
  27. Hand, foot and mouth disease (HFMD) is caused by a variety of enterovirus serotypes and the etiological spectrum worldwide has changed since a large scale of outbreaks occurred in 1997.

    Authors: Yuting Yu, Zhiyu Luo, Weiping Jin, Jianyi Mai, Shasha Qian, Jia Lu, Zhenni Wei, Shengli Meng, Zejun Wang, Xuhua Guan, Yeqing Tong and Shuo Shen
    Citation: BMC Medical Genomics 2021 14:279
  28. Recurrent spontaneous abortion (RSA) is one of the common complication of pregnancy, bringing heavy burden to the patients and their families. The study aimed to explore the lncRNA-miRNA-mRNA network associate...

    Authors: Yong Huang, Jiayuan Hao, Yuan Liao, Lihua Zhou, Kaiju Wang, Hui Zou, Ying Hu and Juan Li
    Citation: BMC Medical Genomics 2021 14:278
  29. Mutations in the Forkhead Box C1 (FOXC1) are known to cause autosomal dominant hereditary Axenfeld-Rieger syndrome, which is a genetic disorder characterized by ocular and systemic features including glaucoma, va...

    Authors: Rui Wang, Wei-Qian Wang, Xiao-Qin Li, Juan Zhao, Kun Yang, Yong Feng, Meng-Meng Guo, Min Liu, Xing Liu, Xi Wang, Yong-Yi Yuan, Xue Gao and Jin-Cao Xu
    Citation: BMC Medical Genomics 2021 14:277
  30. Relative haplotype dosage (RHDO) approach has been applied in noninvasive prenatal diagnosis (NIPD) of Duchenne muscular dystrophy (DMD). However, the RHDO procedure is relatively complicated and the parental ...

    Authors: Ganye Zhao, Xiaofeng Wang, Lina Liu, Peng Dai and Xiangdong Kong
    Citation: BMC Medical Genomics 2021 14:275
  31. This study investigated whether single nucleotide polymorphisms (SNPs) reported by previous genome-wide association studies (GWAS) to be associated with impaired insulin secretion, insulin resistance, and/or t...

    Authors: Rashmi B. Prasad, Karl Kristensen, Anastasia Katsarou and Nael Shaat
    Citation: BMC Medical Genomics 2021 14:274
  32. Circulating tumor cells (CTCs) are the critical initiators of distant metastasis formation. In which, the reciprocal interplay among different metastatic pathways and their metastasis driver genes which promot...

    Authors: Samane Khoshbakht, Sadegh Azimzadeh Jamalkandi and Ali Masudi-Nejad
    Citation: BMC Medical Genomics 2021 14:273
  33. Single-cell sequencing approaches allow gene expression to be measured at the single-cell level, providing opportunities and challenges to study the aetiology of complex diseases, including cancer.

    Authors: Qiuyan Huo, Yu Yin, Fangfang Liu, Yuying Ma, Liming Wang and Guimin Qin
    Citation: BMC Medical Genomics 2021 14(Suppl 5):263

    This article is part of a Supplement: Volume 14 Supplement 5

  34. Developing efficient and successful computational methods to infer potential miRNA-disease associations is urgently needed and is attracting many computer scientists in recent years. The reason is that miRNAs ...

    Authors: Van Tinh Nguyen, Thi Tu Kien Le, Tran Quoc Vinh Nguyen and Dang Hung Tran
    Citation: BMC Medical Genomics 2021 14(Suppl 3):225

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

  35. Skeletal dysplasia (SD) is one of the most common inherited neonatal disorders worldwide, where the recurrent pathogenic mutations in the FGFR2, FGFR3, COL1A1, COL1A2 and COL2A1 genes are frequently reported in b...

    Authors: Ching-Yuan Wang, Yen-An Tang, I-Wen Lee, Fong-Ming Chang, Chun-Wei Chien, Hsien-An Pan and H. Sunny Sun
    Citation: BMC Medical Genomics 2021 14(Suppl 3):212

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

  36. The genetic association studies of type 2 diabetes mellitus (T2DM) hitherto undertaken among the Indian populations are grossly inadequate representation of the ethnic and geographic heterogeneity of the count...

    Authors: Kumuda Irgam, Battini Sriteja Reddy, Sai Gayathri Hari, Swathi Banapuram and Battini Mohan Reddy
    Citation: BMC Medical Genomics 2021 14:272
  37. Co-expression network may contribute to better understanding molecular interaction patterns underlying cellular processes. To explore microRNAs (miRNAs) expression patterns correlated with AF, we performed wei...

    Authors: Qiang Qu, Jin-Yu Sun, Zhen-Ye Zhang, Yue Su, Shan-Shan Li, Feng Li and Ru-Xing Wang
    Citation: BMC Medical Genomics 2021 14:271
  38. Coffin–Siris syndrome (CSS) is a multiple malformation syndrome characterized by intellectual disability associated with coarse facial features, hirsutism, sparse scalp hair, and hypoplastic or absent fifth fi...

    Authors: Guanting Lu, Qiongling Peng, Lianying Wu, Jian Zhang and Liya Ma
    Citation: BMC Medical Genomics 2021 14:270
  39. As the number of COVID-19 deaths continues to rise worldwide, the identification of risk factors for the disease is an urgent issue, and it remains controversial whether atherogenic lipid-related traits includ...

    Authors: Masahiro Yoshikawa, Kensuke Asaba and Tomohiro Nakayama
    Citation: BMC Medical Genomics 2021 14:269
  40. Xinjiang is one of the regions with a high incidence of cervical cancer, and the genetic variation of human papillomavirus may increase its ability to infect the human body and enhance virus-mediated immune es...

    Authors: Luyue Wang, Fang Wang, Shaowei Fu, Chunhe Zhang, Xiangyi Zhe, Hongtao Li, Dongmei Li, Renfu Shao and Zemin Pan
    Citation: BMC Medical Genomics 2021 14:268
  41. Genetic polymorphisms in the PPARD and NOS1AP is associated with type 2 diabetes mellitus (T2DM); however, there is no evidence about its impact on the therapeutic efficacy of nateglinide. This study was designed...

    Authors: Tao Wang, Jin-Fang Song, Xue-Yan Zhou, Cheng-Lin Li, Xiao-Xing Yin and Qian Lu
    Citation: BMC Medical Genomics 2021 14:267
  42. Nephrolithiasis (NL) affects 1 in 11 individuals worldwide and causes significant morbidity and cost. Common variants in the calcium sensing receptor gene (CaSR) have been associated with NL. Rare inactivating Ca...

    Authors: Ihsan Ullah, Isabel Ottlewski, Wasim Shehzad, Amjad Riaz, Sadaqat Ijaz, Asad Tufail, Hafiza Ammara, Shrikant Mane, Shirlee Shril, Friedhelm Hildebrandt, Muhammad Yasir Zahoor and Amar J. Majmundar
    Citation: BMC Medical Genomics 2021 14:266
  43. It has been reported that dietary fats and genetic factors in individuals are associated with the pattern of fat distribution. This study aimed to evaluate the interaction between dietary fats intake and Caveolin...

    Authors: Yasaman Aali, Farideh Shiraseb, Faezeh Abaj, Fariba koohdani and Khadijeh Mirzaei
    Citation: BMC Medical Genomics 2021 14:265
  44. Osteopetrosis is a genetically heterogenous, fatal bone disorder characterized by increased bone density. Globally, various genetic causes are reported for osteopetrosis with all forms of inheritance patterns....

    Authors: Chunyu Liu, Muhammad Ajmal, Zaineb Akram, Tariq Ghafoor, Muhammad Farhan, Sobia Shafique, Sughra Wahid, Shahar Bano, Jianqiu Xiao, Humayoon Shafique Satti, Feng Zhang and Tahir Naeem Khan
    Citation: BMC Medical Genomics 2021 14:264
  45. Cystic fibrosis (CF) is an autosomal recessive disorder caused by pathogenic variants in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The CF variants incidence is highly variable and even ...

    Authors: Consuelo Cantú-Reyna, Roberto Galindo-Ramírez, Mercedes Vázquez-Cantú, Lorenza Haddad-Talancón and Willebaldo García-Muñoz
    Citation: BMC Medical Genomics 2021 14:262
  46. Birth defects pose a major challenge to infant health. Thus far, however, the causes of most birth defects remain cryptic. Over the past few decades, considerable effort has been expended on disclosing the und...

    Authors: Dengwei Zhang, Si Zhou, Ziheng Zhou, Xiaosen Jiang, Dongsheng Chen, Hai-Xi Sun, Jie Huang, Shoufang Qu, Songchen Yang, Ying Gu, Xiuqing Zhang, Xin Jin, Ya Gao, Yue Shen and Fang Chen
    Citation: BMC Medical Genomics 2021 14:260

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