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  1. Currently, more than 150 million people worldwide suffer from lymphedema. It is a chronic progressive disease characterized by high-protein edema of various parts of the body due to defects in lymphatic draina...

    Authors: Olga V. Saik, Vadim V. Nimaev, Dilovarkhuja B. Usmonov, Pavel S. Demenkov, Timofey V. Ivanisenko, Inna N. Lavrik and Vladimir A. Ivanisenko
    Citation: BMC Medical Genomics 2019 12(Suppl 2):47

    This article is part of a Supplement: Volume 12 Supplement 2

  2. Fat mass and obesity-associated (FTO) gene has been under close investigation since the discovery of its high impact on the obesity status in 2007 by a range of publications. Recent report on its implication in a...

    Authors: Vladimir Babenko, Roman Babenko, Junaid Gamieldien and Arcady Markel
    Citation: BMC Medical Genomics 2019 12(Suppl 2):46

    This article is part of a Supplement: Volume 12 Supplement 2

  3. Currently, chromosomal microarrays (CMA) are recommended as first-tier test in the investigation of developmental disorders to examine copy number variations. The modern platforms also include probes for singl...

    Authors: Tiago Fernando Chaves, Luan Freitas Oliveira, Maristela Ocampos, Ingrid Tremel Barbato, Gisele Rozone de Luca, Jorge Humbeto Barbato Filho, Louise Lapagesse de Camargo Pinto, Pricila Bernardi and Angelica Francesca Maris
    Citation: BMC Medical Genomics 2019 12:50
  4. The onset of acute Graft-versus-Host Disease (aGvHD) has been correlated with the gut microbiota (GM) composition, but experimental observations are still few, mainly involving cohorts of adult patients. In th...

    Authors: Elena Biagi, Daniele Zama, Simone Rampelli, Silvia Turroni, Patrizia Brigidi, Clarissa Consolandi, Marco Severgnini, Eleonora Picotti, Pietro Gasperini, Pietro Merli, Nunzia Decembrino, Marco Zecca, Simone Cesaro, Maura Faraci, Arcangelo Prete, Franco Locatelli…
    Citation: BMC Medical Genomics 2019 12:49
  5. Cardiomyopathies affect more than 0.5% of the general population. They are associated with high risk of sudden cardiac death, which can result from either heart failure or electrical abnormalities. Although di...

    Authors: Marwan M. Refaat, Sylvana Hassanieh, Jad A. Ballout, Patrick Zakka, Mostafa Hotait, Athar Khalil, Fadi Bitar, Mariam Arabi, Samir Arnaout, Hadi Skouri, Antoine Abchee, Bernard Abi-Saleh, Maurice Khoury, Andreas Massouras and Georges Nemer
    Citation: BMC Medical Genomics 2019 12:33
  6. The Human Epidermal Growth Factor Receptor (EGFR/HER1) can be activated by several ligands including Transforming Growth Factor alpha (TGF-α) and Epidermal Growth Factor (EGF). Following ligand binding, EGFR h...

    Authors: Miguel Nava, Pranabananda Dutta, Nathan R. Zemke, Robin Farias-Eisner, Jaydutt V. Vadgama and Yanyuan Wu
    Citation: BMC Medical Genomics 2019 12:32
  7. Oesophageal adenocarcinoma (EAC) incidence is increasing and has a poor survival rate. Barrett’s oesophagus (BE) is a precursor condition that is associated with EAC and often occurs in conjunction with chroni...

    Authors: Felicity Newell, Kalpana Patel, Michael Gartside, Lutz Krause, Sandra Brosda, Lauren G. Aoude, Kelly A. Loffler, Vanessa F. Bonazzi, Ann-Marie Patch, Stephen H. Kazakoff, Oliver Holmes, Qinying Xu, Scott Wood, Conrad Leonard, Guy Lampe, Reginald V. Lord…
    Citation: BMC Medical Genomics 2019 12:31
  8. Non-random chromosome positioning has been observed in the nuclei of several different tissue types, including human spermatozoa. The nuclear arrangement of chromosomes can be altered in men with decreased sem...

    Authors: Marta Olszewska, Ewa Wiland, Nataliya Huleyuk, Monika Fraczek, Alina T. Midro, Danuta Zastavna and Maciej Kurpisz
    Citation: BMC Medical Genomics 2019 12:30
  9. Glucocorticoids act on the glucocorticoid receptor (GR; NR3C1) to resolve inflammation and, as inhaled corticosteroids (ICS), are the cornerstone of treatment for asthma. However, reduced efficacy in severe di...

    Authors: Mahmoud M. Mostafa, Christopher F. Rider, Suharsh Shah, Suzanne L. Traves, Paul M. K. Gordon, Anna Miller-Larsson, Richard Leigh and Robert Newton
    Citation: BMC Medical Genomics 2019 12:29
  10. Haplotype phasing is an important step in many bioinformatics workflows. In cancer genomics, it is suggested that reconstructing the clonal haplotypes of a tumor sample could facilitate a comprehensive underst...

    Authors: Yixuan Wang, Xuanping Zhang, Shuai Ding, Yu Geng, Jianye Liu, Zhongmeng Zhao, Rong Zhang, Xiao Xiao and Jiayin Wang
    Citation: BMC Medical Genomics 2019 12(Suppl 1):27

    This article is part of a Supplement: Volume 12 Supplement 1

  11. Cardiovascular disease, diabetes, and kidney disease are among the leading causes of death and disability worldwide. However, knowledge of genetic determinants of those diseases in African Americans remains li...

    Authors: Xueyan Zhao, Xin Geng, Vinodh Srinivasasainagendra, Ninad Chaudhary, Suzanne Judd, Virginia Wadley, Orlando M. Gutiérrez, Henry Wang, Ethan M. Lange, Leslie A. Lange, Daniel Woo, Frederick W. Unverzagt, Monika Safford, Mary Cushman, Nita Limdi, Rakale Quarells…
    Citation: BMC Medical Genomics 2019 12(Suppl 1):26

    This article is part of a Supplement: Volume 12 Supplement 1

  12. While changes in mRNA expression during tumorigenesis have been used widely as molecular biomarkers for the diagnosis of a number of cancers, the approach has limitations. For example, traditional methods do n...

    Authors: Fan Zhang, Linda Ding, Li Cui, Robert Barber and Bin Deng
    Citation: BMC Medical Genomics 2019 12(Suppl 1):25

    This article is part of a Supplement: Volume 12 Supplement 1

  13. Prognostic signatures are vital to precision medicine. However, development of somatic mutation prognostic signatures for cancers remains a challenge. In this study we developed a novel method for discovering ...

    Authors: Mark Menor, Yong Zhu, Yu Wang, Jicai Zhang, Bin Jiang and Youping Deng
    Citation: BMC Medical Genomics 2019 12(Suppl 1):24

    This article is part of a Supplement: Volume 12 Supplement 1

  14. While most pediatric sarcomas respond to front-line therapy, some bone sarcomas do not show radiographic response like soft-tissue sarcomas (rhabdomyosarccomas) but do show 90% necrosis. Though, new therapies ...

    Authors: Lijun Cheng, Pankita H. Pandya, Enze Liu, Pooja Chandra, Limei Wang, Mary E. Murray, Jacquelyn Carter, Michael Ferguson, Mohammad Reza Saadatzadeh, Khadijeh Bijangi-Visheshsaraei, Mark Marshall, Lang Li, Karen E. Pollok and Jamie L. Renbarger
    Citation: BMC Medical Genomics 2019 12(Suppl 1):23

    This article is part of a Supplement: Volume 12 Supplement 1

  15. Identifying cancer driver genes (CDG) is a crucial step in cancer genomic toward the advancement of precision medicine. However, driver gene discovery is a very challenging task because we are not only dealing...

    Authors: Alice Djotsa Nono, Ken Chen and Xiaoming Liu
    Citation: BMC Medical Genomics 2019 12(Suppl 1):22

    This article is part of a Supplement: Volume 12 Supplement 1

  16. Normal tissue samples are often employed as a control for understanding disease mechanisms, however, collecting matched normal tissues from patients is difficult in many instances. In cancer research, for exam...

    Authors: William Z. D. Zeng, Benjamin S. Glicksberg, Yangyan Li and Bin Chen
    Citation: BMC Medical Genomics 2019 12(Suppl 1):21

    This article is part of a Supplement: Volume 12 Supplement 1

  17. During June 10–12, 2018, the International Conference on Intelligent Biology and Medicine (ICIBM 2018) was held in Los Angeles, California, USA. The conference included 11 scientific sessions, four tutorials, ...

    Authors: Degui Zhi, Zhongming Zhao, Fuhai Li, Zhijin Wu, Xiaoming Liu and Kai Wang
    Citation: BMC Medical Genomics 2019 12(Suppl 1):20

    This article is part of a Supplement: Volume 12 Supplement 1

  18. Since tumor often has a high level of intra-tumor heterogeneity, multiple tumor samples from the same patient at different locations or different time points are often sequenced to study tumor intra-heterogene...

    Authors: Yuchao Xia, Yun Liu, Minghua Deng and Ruibin Xi
    Citation: BMC Medical Genomics 2019 12(Suppl 1):19

    This article is part of a Supplement: Volume 12 Supplement 1

  19. The study of high-throughput genomic profiles from a pharmacogenomics viewpoint has provided unprecedented insights into the oncogenic features modulating drug response. A recent study screened for the respons...

    Authors: Yu-Chiao Chiu, Hung-I Harry Chen, Tinghe Zhang, Songyao Zhang, Aparna Gorthi, Li-Ju Wang, Yufei Huang and Yidong Chen
    Citation: BMC Medical Genomics 2019 12(Suppl 1):18

    This article is part of a Supplement: Volume 12 Supplement 1

    The Correction to this article has been published in BMC Medical Genomics 2019 12:119

  20. Diet plays an important role in Alzheimer’s disease (AD) initiation, progression and outcomes. Previous studies have shown individual food-derived substances may have neuroprotective or neurotoxic effects. How...

    Authors: Yang Chen and Rong Xu
    Citation: BMC Medical Genomics 2019 12(Suppl 1):17

    This article is part of a Supplement: Volume 12 Supplement 1

  21. Cleft lip (CL) is one of the most common congenital birth defects with complex etiology. While genome-wide association studies (GWAS) have made significant advances in our understanding of mutations and their ...

    Authors: Aimin Li, Guimin Qin, Akiko Suzuki, Mona Gajera, Junichi Iwata, Peilin Jia and Zhongming Zhao
    Citation: BMC Medical Genomics 2019 12(Suppl 1):16

    This article is part of a Supplement: Volume 12 Supplement 1

  22. Predicting cellular responses to drugs has been a major challenge for personalized drug therapy regimen. Recent pharmacogenomic studies measured the sensitivities of heterogeneous cell lines to numerous drugs,...

    Authors: Xuewei Wang, Zhifu Sun, Michael T. Zimmermann, Andrej Bugrim and Jean-Pierre Kocher
    Citation: BMC Medical Genomics 2019 12(Suppl 1):15

    This article is part of a Supplement: Volume 12 Supplement 1

  23. Lots of researches have been conducted in the selection of gene signatures that could distinguish the cancer patients from the normal. However, it is still an open question on how to extract the robust gene fe...

    Authors: Shicai Fan, Jianxiong Tang, Qi Tian and Chunguo Wu
    Citation: BMC Medical Genomics 2019 12(Suppl 1):14

    This article is part of a Supplement: Volume 12 Supplement 1

  24. At least 90% of human genes are alternatively spliced. Alternative splicing has an important function regulating gene expression and miss-splicing can contribute to risk for human diseases, including Alzheimer...

    Authors: Seonggyun Han, Jason E. Miller, Seyoun Byun, Dokyoon Kim, Shannon L. Risacher, Andrew J. Saykin, Younghee Lee and Kwangsik Nho
    Citation: BMC Medical Genomics 2019 12(Suppl 1):13

    This article is part of a Supplement: Volume 12 Supplement 1

  25. Although synonymous single nucleotide variants (sSNVs) do not alter the protein sequences, they have been shown to play an important role in human disease. Distinguishing pathogenic sSNVs from neutral ones is ...

    Authors: Fang Shi, Yao Yao, Yannan Bin, Chun-Hou Zheng and Junfeng Xia
    Citation: BMC Medical Genomics 2019 12(Suppl 1):12

    This article is part of a Supplement: Volume 12 Supplement 1

  26. Microtia-atresia is characterized by abnormalities of the auricle (microtia) and aplasia or hypoplasia of the external auditory canal, often associated with middle ear abnormalities. To date, no causal genetic...

    Authors: Pu Wang, Yibei Wang, Xinmiao Fan, Yaping Liu, Yue Fan, Tao Liu, Chongjian Chen, Shuyang Zhang and Xiaowei Chen
    Citation: BMC Medical Genomics 2019 12:28
  27. The past few decades have witnessed a tremendous development in the field of genetics. The implementation of next generation sequencing (NGS) technologies revolutionized the field of molecular biology and made...

    Authors: Nadine Jalkh, Sandra Corbani, Zahraa Haidar, Nadine Hamdan, Elias Farah, Joelle Abou Ghoch, Rouba Ghosn, Nabiha Salem, Ali Fawaz, Claudia Djambas Khayat, Mariam Rajab, Chebl Mourani, Adib Moukarzel, Simon Rassi, Bernard Gerbaka, Hicham Mansour…
    Citation: BMC Medical Genomics 2019 12:11
  28. It has been found that chronic rhinosinusitis (CRS) increases the risk of developing nasopharyngeal carcinoma (NPC). CRS can be caused by gastro-oesophageal reflux (GOR) that may reach nasopharynx. The major c...

    Authors: Sang-Nee Tan and Sai-Peng Sim
    Citation: BMC Medical Genomics 2019 12:9
  29. T-cell acute lymphoblastic leukemia (T-ALL) is an aggressive hematological malignancy. Aberrant expressed genes contribute to the development and progression of T-ALL. However, the regulation underlying their ...

    Authors: Mengxuan Xia, Qiong Zhang, Mei Luo, Pan Li, Yingxue Wang, Qian Lei and An-Yuan Guo
    Citation: BMC Medical Genomics 2019 12:8
  30. Exosomes are a subset of extracellular vesicles 30–200 nm in diameter secreted from cells, which contain functional mRNAs and microRNAs. Cerebrospinal fluid (CSF) is the primary source for liquid biopsy to exa...

    Authors: Kentaro Otake, Hidenori Kamiguchi and Yoshihiko Hirozane
    Citation: BMC Medical Genomics 2019 12:7
  31. Two interstitial microdeletions Xp11.22 including the CLCN5 and SHROOM4 genes were recently reported in a male individual affected with Dent disease, short stature, psychomotor delay and minor facial anomalies. D...

    Authors: Magdalena Danyel, Eun Kyung Suk, Vera Raile, Jutta Gellermann, Alexej Knaus and Denise Horn
    Citation: BMC Medical Genomics 2019 12:6
  32. Mutations of SHOX represent the most frequent monogenic cause of short stature and related syndromes. The genetic alterations include point mutations and deletions/duplications spanning both SHOX and its regulato...

    Authors: Alice Monzani, Deepak Babu, Simona Mellone, Giulia Genoni, Antonella Fanelli, Flavia Prodam, Simonetta Bellone and Mara Giordano
    Citation: BMC Medical Genomics 2019 12:5
  33. We assessed the stability of BAFF, interferon, plasma cell and LDG neutrophil gene expression signatures over time, and whether changes in expression coincided with changes in SLE disease activity.

    Authors: Michelle Petri, Wei Fu, Ann Ranger, Norm Allaire, Patrick Cullen, Laurence S. Magder and Yuji Zhang
    Citation: BMC Medical Genomics 2019 12:4
  34. In the absence of antiretroviral treatments (ARTs), a small group of individuals infected with HIV, including long-term non-progressors (LTNPs) who maintain high levels of CD4+ T cells for more than 7–10 years...

    Authors: Sun Young Lee, Yong Kwang Park, Cheol-Hee Yoon, Kisoon Kim and Kyung-Chang Kim
    Citation: BMC Medical Genomics 2019 12:3
  35. The etiology and mechanism of spontaneous preterm birth (sPTB) are still unclear. Accumulating evidence has documented that various environmental exposure scenarios may cause maternal and fetal epigenetic chan...

    Authors: Xi-Meng Wang, Fu-Ying Tian, Li-Jun Fan, Chuan-Bo Xie, Zhong-Zheng Niu and Wei-Qing Chen
    Citation: BMC Medical Genomics 2019 12:1
  36. Long noncoding RNAs (lncRNAs) are widely involved in the initiation and development of cancer. Although some computational methods have been proposed to identify cancer-related lncRNAs, there is still a demand...

    Authors: Xuan Zhang, Jun Wang, Jing Li, Wen Chen and Changning Liu
    Citation: BMC Medical Genomics 2018 11(Suppl 6):120

    This article is part of a Supplement: Volume 11 Supplement 6

  37. Identification of cancer subtypes is of great importance to facilitate cancer diagnosis and therapy. A number of methods have been proposed to integrate multi-sources data to identify cancer subtypes in recent...

    Authors: Yang Guo, Yang Qi, Zhanhuai Li and Xuequn Shang
    Citation: BMC Medical Genomics 2018 11(Suppl 6):119

    This article is part of a Supplement: Volume 11 Supplement 6

  38. Gene expression-based profiling has been used to identify biomarkers for different breast cancer subtypes. However, this technique has many limitations. IsomiRs are isoforms of miRNAs that have critical roles ...

    Authors: Chaowang Lan, Hui Peng, Eileen M. McGowan, Gyorgy Hutvagner and Jinyan Li
    Citation: BMC Medical Genomics 2018 11(Suppl 6):118

    This article is part of a Supplement: Volume 11 Supplement 6

  39. Human cancers are complex ecosystems composed of cells with distinct molecular signatures. Such intratumoral heterogeneity poses a major challenge to cancer diagnosis and treatment. Recent advancements of sing...

    Authors: Yanglan Gan, Ning Li, Guobing Zou, Yongchang Xin and Jihong Guan
    Citation: BMC Medical Genomics 2018 11(Suppl 6):117

    This article is part of a Supplement: Volume 11 Supplement 6

  40. Micro-RNAs (miRNAs) play a significant role in regulating gene expression under physiological and pathological conditions such as cancers. However, it remains a challenging problem to discover the target messe...

    Authors: Lujia Chen and Xinghua Lu
    Citation: BMC Medical Genomics 2018 11(Suppl 6):116

    This article is part of a Supplement: Volume 11 Supplement 6

  41. Gene co-expression network (GCN) mining is a systematic approach to efficiently identify novel disease pathways, predict novel gene functions and search for potential disease biomarkers. However, few studies h...

    Authors: Shunian Xiang, Zhi Huang, Tianfu Wang, Zhi Han, Christina Y. Yu, Dong Ni, Kun Huang and Jie Zhang
    Citation: BMC Medical Genomics 2018 11(Suppl 6):115

    This article is part of a Supplement: Volume 11 Supplement 6

  42. Recent studies demonstrated that long non-coding RNAs (lncRNAs) could be intricately implicated in cancer-related molecular networks, and related to cancer occurrence, development and prognosis. However, clini...

    Authors: Jun Wang, Xuan Zhang, Wen Chen, Jing Li and Changning Liu
    Citation: BMC Medical Genomics 2018 11(Suppl 6):114

    This article is part of a Supplement: Volume 11 Supplement 6

  43. Current knowledge and data on miRNA-lncRNA interactions is still limited and little effort has been made to predict target lncRNAs of miRNAs. Accumulating evidences suggest that the interaction patterns betwee...

    Authors: Zhi-An Huang, Yu-An Huang, Zhu-Hong You, Zexuan Zhu and Yiwen Sun
    Citation: BMC Medical Genomics 2018 11(Suppl 6):113

    This article is part of a Supplement: Volume 11 Supplement 6

  44. Forty-two percent of patients experience disease comorbidity, contributing substantially to mortality rates and increased healthcare costs. Yet, the possibility of underlying shared mechanisms for diseases rem...

    Authors: Haiquan Li, Jungwei Fan, Francesca Vitali, Joanne Berghout, Dillon Aberasturi, Jianrong Li, Liam Wilson, Wesley Chiu, Minsu Pumarejo, Jiali Han, Colleen Kenost, Pradeep C. Koripella, Nima Pouladi, Dean Billheimer, Edward J. Bedrick and Yves A. Lussier
    Citation: BMC Medical Genomics 2018 11(Suppl 6):112

    This article is part of a Supplement: Volume 11 Supplement 6

  45. There is a clear need for assays that can predict the risk of metastatic prostate cancer following curative procedures. Importantly these assays must be analytically robust in order to provide quality data for...

    Authors: Paul Wallace Medlow, Christopher James Steele, Andrena Marie McCavigan, Wesley Reardon, Christopher Michael Brown, Shauna May Lambe, Felipe Augusto Andre Ishiy, Steven Michael Walker, Gemma Elizabeth Logan, Olaide Yaqeen Raji, Viktor Berge, Betina Katz, Elaine Williamson Kay, Katherine Sheehan, Ronald William Watson, Denis Paul Harkin…
    Citation: BMC Medical Genomics 2018 11:125
  46. Silver-Russell Syndrome (SRS) is a rare growth-related genetic disorder mainly characterized by prenatal and postnatal growth failure. Although molecular causes are not clear in all cases, the most common mech...

    Authors: Yerai Vado, Javier Errea-Dorronsoro, Isabel Llano-Rivas, Nerea Gorria, Arrate Pereda, Blanca Gener, Laura Garcia-Naveda and Guiomar Perez de Nanclares
    Citation: BMC Medical Genomics 2018 11:124
  47. The etiology of more than half of all patients with X-linked intellectual disability remains elusive, despite array-based comparative genomic hybridization, whole exome or genome sequencing. Since short read m...

    Authors: Alena Zablotskaya, Hilde Van Esch, Kevin J. Verstrepen, Guy Froyen and Joris R. Vermeesch
    Citation: BMC Medical Genomics 2018 11:123
  48. Chromosome translocations are a hallmark of B-cell precursor acute lymphoblastic leukemia (BCP-ALL). Additional genomic aberrations are also crucial in both BCP-ALL leukemogenesis and treatment management. Her...

    Authors: Thayana Conceição Barbosa, Bruno Almeida Lopes, Caroline Barbieri Blunck, Marcela Braga Mansur, Adriana Vanessa Santini Deyl, Mariana Emerenciano and Maria S. Pombo-de-Oliveira
    Citation: BMC Medical Genomics 2018 11:122

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