Skip to main content

Articles

Page 37 of 47

  1. A substantial proportion of Autism Spectrum Disorder (ASD) risk resides in de novo germline and rare inherited genetic variation. In particular, rare copy number variation (CNV) contributes to ASD risk in up to 1...

    Authors: Worrawat Engchuan, Kiret Dhindsa, Anath C Lionel, Stephen W Scherer, Jonathan H Chan and Daniele Merico
    Citation: BMC Medical Genomics 2015 8(Suppl 1):S7
    Content type: Research Published on:

    This article is part of a Supplement: Volume 8 Supplement 1

  2. Exacerbations of chronic obstructive pulmonary disease (COPD), characterized by acute deterioration in symptoms, may be due to bacterial or viral infections, environmental exposures, or unknown factors. Exacer...

    Authors: Jarrett D Morrow, Weiliang Qiu, Divya Chhabra, Stephen I Rennard, Paula Belloni, Anton Belousov, Sreekumar G Pillai and Craig P Hersh
    Citation: BMC Medical Genomics 2015 8:1
    Content type: Research article Published on:

  3. Tumorigenesis is characterised by changes in transcriptional control. Extensive transcript expression data have been acquired over the last decade and used to classify prostate cancers. Prostate cancer is, how...

    Authors: Stefan J Barfeld, Phil East, Verena Zuber and Ian G Mills
    Citation: BMC Medical Genomics 2014 7:513
    Content type: Research article Published on:

  4. Psychiatric disorders such as schizophrenia (SZ) and bipolar disorder (BP) are projected to lead the global disease burden within the next decade. Several lines of evidence suggest that epigenetic- or genetic-...

    Authors: Zheng Zhao, Yongsheng Li, Hong Chen, Jianping Lu, Peter M Thompson, Juan Chen, Zishan Wang, Juan Xu, Chun Xu and Xia Li
    Citation: BMC Medical Genomics 2014 7:71
    Content type: Database Published on:

  5. Clinical and histological parameters are valid prognostic markers in renal disease, although they may show considerable interindividual variability and sometimes limited prognostic value. Novel molecular marke...

    Authors: Hannes Neuwirt, Paul Perco, Alexander Kainz, Irmgard Mühlberger, Johannes Leierer, Suzie-Jane Braniff, Bernd Mayer, Gert Mayer and Michael Rudnicki
    Citation: BMC Medical Genomics 2014 7:75
    Content type: Research article Published on:

  6. Mitochondrial DNA mutations may be associated with cardiovascular disease, including the common cardiac vascular disease, hypertension.

    Authors: Yuqi Liu, Qinglei Zhu, Chao Zhu, Xueping Wang, Jie Yang, Tong Yin, Jinliao Gao, Zongbin Li, Qinghua Ma, Minxin Guan, Yang Li and Yundai Chen
    Citation: BMC Medical Genomics 2014 7:73
    Content type: Research article Published on:

  7. Molecular karyotyping is now the first-tier genetic test for patients affected with unexplained intellectual disability (ID) and/or multiple congenital anomalies (MCA), since it identifies a pathogenic copy nu...

    Authors: Guylaine D’Amours, Mathieu Langlois, Géraldine Mathonnet, Raouf Fetni, Sonia Nizard, Myriam Srour, Frédérique Tihy, Michael S Phillips, Jacques L Michaud and Emmanuelle Lemyre
    Citation: BMC Medical Genomics 2014 7:70
    Content type: Research article Published on:

  9. Developing efficacious medications to treat methamphetamine dependence is a global challenge in public health. Topiramate (TPM) is undergoing evaluation for this indication. The molecular mechanisms underlying...

    Authors: Ming D Li, Ju Wang, Tianhua Niu, Jennie Z Ma, Chamindi Seneviratne, Nassima Ait-Daoud, Jim Saadvandi, Rana Morris, David Weiss, Jan Campbell, William Haning, David J Mawhinney, Denis Weis, Michael McCann, Christopher Stock, Roberta Kahn…
    Citation: BMC Medical Genomics 2014 7:65
    Content type: Research article Published on:

  10. Neoadjuvant chemoradiotherapy (nCRT) followed by radical surgery is the preferred treatment strategy for locally advanced rectal cancer. However, complete tumor regression is observed in a significant proporti...

    Authors: Camila Miranda Lopes-Ramos, Angelita Habr-Gama, Bruna de Souza Quevedo, Natália Mariana Felício, Fabiana Bettoni, Fernanda Christtanini Koyama, Paula Fontes Asprino, Pedro Alexandre Galante, Joaquim Gama-Rodrigues, Anamaria Aranha Camargo, Rodrigo Oliva Perez and Raphael Bessa Parmigiani
    Citation: BMC Medical Genomics 2014 7:68
    Content type: Research article Published on:

  11. Given the growing use of whole-exome sequencing (WES) for clinical diagnostics of complex human disorders, we evaluated coverage of clinically relevant cardiac genes on WES and factors influencing uniformity a...

    Authors: Dorin Manase, Lisa CA D’Alessandro, Ashok Kumar Manickaraj, Saeed Al Turki, Matthew E Hurles and Seema Mital
    Citation: BMC Medical Genomics 2014 7:67
    Content type: Research article Published on:

  12. Thyroid cancer is the most common endocrine tumor with a steady increase in incidence. It is classified into multiple histopathological subtypes with potentially distinct molecular mechanisms. Identifying the ...

    Authors: Chengkun Wu, Jean-Marc Schwartz, Georg Brabant and Goran Nenadic
    Citation: BMC Medical Genomics 2014 7(Suppl 3):S3
    Content type: Research Published on:

    This article is part of a Supplement: Volume 7 Supplement 3

  13. The majority of genetic biomarkers for human cancers are defined by statistical screening of high-throughput genomics data. While a large number of genetic biomarkers have been proposed for diagnostic and prog...

    Authors: Lars Rønn Olsen, Benito Campos, Ole Winther, Dennis C Sgroi, Barry L Karger and Vladimir Brusic
    Citation: BMC Medical Genomics 2014 7(Suppl 3):S2
    Content type: Research Published on:

    This article is part of a Supplement: Volume 7 Supplement 3

  14. Majority of influenza A viruses reside and circulate among animal populations, seldom infecting humans due to host range restriction. Yet when some avian strains do acquire the ability to overcome species barr...

    Authors: Christine LP Eng, Joo Chuan Tong and Tin Wee Tan
    Citation: BMC Medical Genomics 2014 7(Suppl 3):S1
    Content type: Research Published on:

    This article is part of a Supplement: Volume 7 Supplement 3

  15. The incidence of Acute Megakaryoblastic Leukemia (AMKL) is 500-fold higher in children with Down Syndrome (DS) compared with non-DS children, but the relevance of trisomy 21 as a specific background of AMKL in...

    Authors: Maria Chiara Pelleri, Allison Piovesan, Maria Caracausi, Anna Concetta Berardi, Lorenza Vitale and Pierluigi Strippoli
    Citation: BMC Medical Genomics 2014 7:63
    Content type: Research article Published on:

  16. In developing countries, many cases with rare neurological diseases remain undiagnosed due to limited diagnostic experience. We encountered a case in China where two siblings both began to develop idiopathic p...

    Authors: Lingling Shi, Bingxiao Li, Yonglan Huang, Xueying Ling, Tianyun Liu, Gholson J Lyon, Anding Xu and Kai Wang
    Citation: BMC Medical Genomics 2014 7:66
    Content type: Research article Published on:

  17. Dramatic improvements in DNA-sequencing technologies and computational analyses have led to wide use of whole exome sequencing (WES) to identify the genetic basis of Mendelian disorders. More than 180 novel ra...

    Authors: Casper Shyr, Maja Tarailo-Graovac, Michael Gottlieb, Jessica JY Lee, Clara van Karnebeek and Wyeth W Wasserman
    Citation: BMC Medical Genomics 2014 7:64
    Content type: Research article Published on:

    The Correction to this article has been published in BMC Medical Genomics 2017 10:69

  18. Improvements in both performance and cost for next-generation sequencing (NGS) have spurred its rapid adoption for clinical applications. We designed and optimized a pan-cancer target-enrichment panel for 51 w...

    Authors: Ashish Choudhary, Elizabeth Mambo, Tiffany Sanford, Michael Boedigheimer, Brian Twomey, Joseph Califano, Andrew Hadd, Kelly S Oliner, Sylvie Beaudenon, Gary J Latham and Alex T Adai
    Citation: BMC Medical Genomics 2014 7:62
    Content type: Research article Published on:

  19. Sleep quality and genetics may contribute to the etiology of gastrointestinal (GI) symptoms. Individuals with impaired sleep often have a number of associated symptoms including chronic abdominal pain (CAP). T...

    Authors: Swarnalatha Y Reddy, Nat A Rasmussen, Nicolaas H Fourie, Rebecca S Berger, Angela C Martino, Jessica Gill, Ryan Longchamps, Xiao Min Wang, Margaret M Heitkemper and Wendy A Henderson
    Citation: BMC Medical Genomics 2014 7:61
    Content type: Research article Published on:

  22. Predicting disease-related genes is one of the most important tasks in bioinformatics and systems biology. With the advances in high-throughput techniques, a large number of protein-protein interactions are av...

    Authors: Min Li, Jiayi Zhang, Qing Liu, Jianxin Wang and Fang-Xiang Wu
    Citation: BMC Medical Genomics 2014 7(Suppl 2):S4
    Content type: Research Published on:

    This article is part of a Supplement: Volume 7 Supplement 2

  23. Protein complexes are important for understanding principles of cellular organization and function. High-throughput experimental techniques have produced a large amount of protein-protein interactions (PPIs), ...

    Authors: Zhi Hao Yang, Feng Ying Yu, Hong Fei Lin and Jian Wang
    Citation: BMC Medical Genomics 2014 7(Suppl 2):S3
    Content type: Research Published on:

    This article is part of a Supplement: Volume 7 Supplement 2

  24. Now multiple types of data are available for identifying disease genes. Those data include gene-disease associations, disease phenotype similarities, protein-protein interactions, pathways, gene expression pro...

    Authors: Bolin Chen, Jianxin Wang, Min Li and Fang-Xiang Wu
    Citation: BMC Medical Genomics 2014 7(Suppl 2):S2
    Content type: Research Published on:

    This article is part of a Supplement: Volume 7 Supplement 2

  25. From a phenotypic standpoint, certain types of diseases may prove to be difficult to accurately diagnose, due to specific combinations of confounding symptoms. Referred to as phenotypic overlap, these sets of ...

    Authors: Weiwei Xu, Xingpeng Jiang, Xiaohua Hu and Guangrong Li
    Citation: BMC Medical Genomics 2014 7(Suppl 2):S1
    Content type: Research Published on:

    This article is part of a Supplement: Volume 7 Supplement 2

  26. We have identified candidate protein and microRNA (miRNA) biomarkers for dyspnea by studying serum, lavage fluid, and urine from military personnel who reported serious respiratory symptoms after they were dep...

    Authors: Joseph N Brown, Heather M Brewer, Carrie D Nicora, Karl K Weitz, Michael J Morris, Andrew J Skabelund, Joshua N Adkins, Richard D Smith, Ji-Hoon Cho and Richard Gelinas
    Citation: BMC Medical Genomics 2014 7:58
    Content type: Research article Published on:

  27. Obesity is a complex metabolic condition in strong association with various diseases, like type 2 diabetes, resulting in major public health and economic implications. Obesity is the result of environmental an...

    Authors: Lisette J A Kogelman, Susanna Cirera, Daria V Zhernakova, Merete Fredholm, Lude Franke and Haja N Kadarmideen
    Citation: BMC Medical Genomics 2014 7:57
    Content type: Research article Published on:

  28. Bicuspid aortic valve (BAV) is the most common type of congenital heart disease with a population prevalence of 1-2%. While BAV is known to be highly heritable, mutations in single genes (such as GATA5 and NOTCH1

    Authors: Elizabeth M Bonachea, Gloria Zender, Peter White, Don Corsmeier, David Newsom, Sara Fitzgerald-Butt, Vidu Garg and Kim L McBride
    Citation: BMC Medical Genomics 2014 7:56
    Content type: Research article Published on:

  29. Trisomy 1q and monosomy 3p deriving from a t(1;3) is an infrequent event. The clinical characteristics of trisomy 1q41-qter have been described but there is not a delineation of the syndrome. The 3p25.3-pter m...

    Authors: Alicia Cervantes, Constanza García-Delgado, Fernando Fernández-Ramírez, Carolina Galaz-Montoya, Ariadna Berenice Morales-Jiménez, Karem Nieto-Martínez, Laura Gómez-Laguna, Judith Villa-Morales, Mónica Quintana-Palma, Jaime Berúmen, Susana Kofman and Verónica F Morán-Barroso
    Citation: BMC Medical Genomics 2014 7:55
    Content type: Case report Published on:

  30. Prediction models for old-age mortality have generally relied upon conventional markers such as plasma-based factors and biophysiological characteristics. However, it is unknown whether the existing markers ar...

    Authors: Juulia Jylhävä, Jani Raitanen, Saara Marttila, Antti Hervonen, Marja Jylhä and Mikko Hurme
    Citation: BMC Medical Genomics 2014 7:54
    Content type: Research article Published on:

  31. MiRNA expression profiling is being actively investigated as a clinical biomarker and diagnostic tool to detect multiple cancer types and stages as well as other complex diseases. Initial investigations, howev...

    Authors: Renata A Rawlings-Goss, Michael C Campbell and Sarah A Tishkoff
    Citation: BMC Medical Genomics 2014 7:53
    Content type: Research article Published on:

  32. Human prion diseases are caused by abnormal accumulation of misfolded prion protein in the brain tissue. Inherited prion diseases, including familial Creutzfeldt-Jakob disease (fCJD), are associated with mutat...

    Authors: Sol Moe Lee, Myungguen Chung, Kyu Jam Hwang, Young Ran Ju, Jae Wook Hyeon, Jun-Sun Park, Chi-Kyeong Kim, Sangho Choi, Jeongmin Lee and Su Yeon Kim
    Citation: BMC Medical Genomics 2014 7:52
    Content type: Research article Published on:

  34. Good prognostic tools for predicting disease progression in early stage prostate cancer (PCa) are still missing. Detection of molecular subtypes, for instance by using microarray gene technology, can give new ...

    Authors: Morten Beck Rye, Helena Bertilsson, Finn Drabløs, Anders Angelsen, Tone F Bathen and May-Britt Tessem
    Citation: BMC Medical Genomics 2014 7:50
    Content type: Research article Published on:

  35. Cytokine-induced killer (CIK) cells are an emerging approach of cancer treatment. Our previous study have shown that CIK cells stimulated with combination of IL-2 and IL-15 displayed improved proliferation cap...

    Authors: Wenju Wang, Mingyao Meng, Yayong Zhang, Chuanyu Wei, Yanhua Xie, Lihong Jiang, Chunhui Wang, Fang Yang, Weiwei Tang, Xingfang Jin, Dai Chen, Jie Zong, Zongliu Hou and Ruhong Li
    Citation: BMC Medical Genomics 2014 7:49
    Content type: Research article Published on:

  36. Allergic rhinitis is a common disease whose genetic basis is incompletely explained. We report an integrated genomic analysis of allergic rhinitis.

    Authors: Supinda Bunyavanich, Eric E Schadt, Blanca E Himes, Jessica Lasky-Su, Weiliang Qiu, Ross Lazarus, John P Ziniti, Ariella Cohain, Michael Linderman, Dara G Torgerson, Celeste S Eng, Maria Pino-Yanes, Badri Padhukasahasram, James J Yang, Rasika A Mathias, Terri H Beaty…
    Citation: BMC Medical Genomics 2014 7:48
    Content type: Research article Published on:

  38. Acute respiratory distress syndrome (ARDS) is characterized by pulmonary epithelial injury and extensive inflammation of the pulmonary parenchyma. Systematic analyses of microRNA (miRNA) and mRNA expression pr...

    Authors: Chaoqun Huang, Xiao Xiao, Narendranath Reddy Chintagari, Melanie Breshears, Yang Wang and Lin Liu
    Citation: BMC Medical Genomics 2014 7:46
    Content type: Research article Published on:

  39. The molecular characteristics of human diseases are often represented by a list of genes termed “signature genes”. A significant challenge facing this approach is that of reproducibility: signatures developed ...

    Authors: Feng Tian, Yajie Wang, Michael Seiler and Zhenjun Hu
    Citation: BMC Medical Genomics 2014 7:45
    Content type: Research article Published on:

  40. The role of copy number variation (CNV) has been poorly explored in essential hypertension in part due to technical difficulties in accurately assessing absolute numbers of DNA copies. Droplet digital PCR (ddP...

    Authors: Francine Z Marques, Priscilla R Prestes, Leonardo B Pinheiro, Katrina Scurrah, Kerry R Emslie, Maciej Tomaszewski, Stephen B Harrap and Fadi J Charchar
    Citation: BMC Medical Genomics 2014 7:44
    Content type: Research article Published on:

  42. Intrahepatic cholestasis of pregnancy (ICP) is a pregnancy-associated liver disease with potentially deleterious consequences for the fetus, particularly when maternal serum bile-acid concentration >40 μM. How...

    Authors: QiaoLing Du, YouDong Pan, YouHua Zhang, HaiLong Zhang, YaJuan Zheng, Ling Lu, JunLei Wang, Tao Duan and JianFeng Chen
    Citation: BMC Medical Genomics 2014 7:42
    Content type: Research article Published on:

  43. Dent disease 1 represents a hereditary disorder of renal tubular epithelial function associated with mutations in the CLCN5 gene that encoded the ClC-5 Cl-/H+ antiporter. All of the reported disease-causing mutat...

    Authors: Enrica Tosetto, Alberto Casarin, Leonardo Salviati, Alessandra Familiari, John C Lieske and Franca Anglani
    Citation: BMC Medical Genomics 2014 7:41
    Content type: Research article Published on:

  44. Network inference of gene expression data is an important challenge in systems biology. Novel algorithms may provide more detailed gene regulatory networks (GRN) for complex, chronic inflammatory diseases such...

    Authors: Peter Kupfer, René Huber, Michael Weber, Sebastian Vlaic, Thomas Häupl, Dirk Koczan, Reinhard Guthke and Raimund W Kinne
    Citation: BMC Medical Genomics 2014 7:40
    Content type: Research article Published on:

  45. Chiari Type I Malformation (CMI) is characterized by herniation of the cerebellar tonsils through the foramen magnum at the base of the skull, resulting in significant neurologic morbidity. As CMI patients dis...

    Authors: Christina A Markunas, Eric Lock, Karen Soldano, Heidi Cope, Chien-Kuang C Ding, David S Enterline, Gerald Grant, Herbert Fuchs, Allison E Ashley-Koch and Simon G Gregory
    Citation: BMC Medical Genomics 2014 7:39
    Content type: Research article Published on:

  46. Recent advances in time-lapse monitoring in IVF treatment have provided new morphokinetic markers for embryonic competence. However, there is still very limited information about the relationship between morph...

    Authors: Zhihong Yang, John Zhang, Shala A Salem, Xiaohong Liu, Yanping Kuang, Rifaat D Salem and Jiaen Liu
    Citation: BMC Medical Genomics 2014 7:38
    Content type: Research article Published on:

  47. Mechanisms underlying the development of virus-induced asthma exacerbations remain unclear. To investigate if epigenetic mechanisms could be involved in virus-induced asthma exacerbations, we undertook DNA met...

    Authors: Peter McErlean, Silvio Favoreto Jr, Fabricio F Costa, Junqing Shen, Jihan Quraishi, Assel Biyasheva, Jocelyn J Cooper, Denise M Scholtens, Elio F Vanin, Maria F de Bonaldo, Hehuang Xie, Marcelo B Soares and Pedro C Avila
    Citation: BMC Medical Genomics 2014 7:37
    Content type: Research article Published on:

  48. The outcome of patients with metastatic colorectal carcinoma (mCRC) following first line therapy is poor, with median survival of less than one year. The purpose of this study was to identify candidate therape...

    Authors: Vijayalakshmi Shanmugam, Ramesh K Ramanathan, Nicole A Lavender, Shripad Sinari, Manpreet Chadha, Winnie S Liang, Ahmet Kurdoglu, Tyler Izatt, Alexis Christoforides, Hollie Benson, Lori Phillips, Angela Baker, Christopher Murray, Galen Hostetter, Daniel D Von Hoff, David W Craig…
    Citation: BMC Medical Genomics 2014 7:36
    Content type: Research article Published on:

  49. Cardiac pathological hypertrophy is associated with a significantly increased risk of coronary heart disease and has been observed in diabetic patients treated with rosiglitazone whereas most published studies...

    Authors: Lars Verschuren, Peter Y Wielinga, Thomas Kelder, Marijana Radonjic, Kanita Salic, Robert Kleemann, Ben van Ommen and Teake Kooistra
    Citation: BMC Medical Genomics 2014 7:35
    Content type: Research article Published on:

  50. Genome wide association studies (GWAS) are a population-scale approach to the identification of segments of the genome in which genetic variations may contribute to disease risk. Current methods focus on the d...

    Authors: Chih-yu Chen, I-Shou Chang, Chao A Hsiung and Wyeth W Wasserman
    Citation: BMC Medical Genomics 2014 7:34
    Content type: Research article Published on:
Submit manuscript

Annual Journal Metrics

  • 2022 Citation Impact
    2.7 - 2-year Impact Factor
    3.2 - 5-year Impact Factor
    0.730 - SNIP (Source Normalized Impact per Paper)
    0.892 - SJR (SCImago Journal Rank)

    2023 Speed
    33 days submission to first editorial decision for all manuscripts (Median)
    164 days submission to accept (Median)

    2023 Usage 
    1,335,753 downloads
    593 Altmetric mentions 

Peer-review Terminology

  • The following summary describes the peer review process for this journal:

    Identity transparency: Single anonymized

    Reviewer interacts with: Editor

    Review information published: Review reports. Reviewer Identities reviewer opt in. Author/reviewer communication

    More information is available here

Follow

Sign up for article alerts and news from this journal

BMC Medical Genomics

ISSN: 1755-8794

Contact us