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  1. Coordinated efforts to collect large-scale data sets provide a basis for systems level understanding of complex diseases. In order to translate these fragmented and heterogeneous data sets into knowledge and m...

    Authors: Kristian Ovaska, Marko Laakso, Saija Haapa-Paananen, Riku Louhimo, Ping Chen, Viljami Aittomäki, Erkka Valo, Javier Núñez-Fontarnau, Ville Rantanen, Sirkku Karinen, Kari Nousiainen, Anna-Maria Lahesmaa-Korpinen, Minna Miettinen, Lilli Saarinen, Pekka Kohonen, Jianmin Wu…

    Citation: Genome Medicine 2010 2:65

    Content type: Research

    Published on:

  2. Eosinophilic esophagitis (EoE) is increasingly diagnosed as a disorder throughout the world. It is characterized by eosinophils in the esophagus due to food allergies. Molecular analysis of esophageal biopsies...

    Authors: Jonathan M Spergel

    Citation: Genome Medicine 2010 2:60

    Content type: Commentary

    Published on:

  3. A central theme of human genetic studies is to understand genomic variation and how this underlies the inherited basis of disease. Genomic variation can provide increased biological understanding of disease pr...

    Authors: Mathias Toft and Owen A Ross

    Citation: Genome Medicine 2010 2:62

    Content type: Minireview

    Published on:

  4. The diagnosis of healthcare-associated infections is problematic because of the overlap between clinical signs associated with 'normal' physiological disturbances and those of bacteremia or fungemia. Earlier d...

    Authors: Richard A Polin and Tara M Randis

    Citation: Genome Medicine 2010 2:58

    Content type: Commentary

    Published on:

  5. Genomic imprinting refers to a class of transmissible genetic effects in which the expression of the phenotype in the offspring depends on the parental origin of the transmitted allele. The DNA from one parent...

    Authors: Braxton D Mitchell and Toni I Pollin

    Citation: Genome Medicine 2010 2:55

    Content type: Review

    Published on:

  6. The European Union multi-disciplinary Personalised RNA interference to Enhance the Delivery of Individualised Cytotoxic and Targeted therapeutics (PREDICT) consortium has recently initiated a framework to acce...

    Authors: Charles Swanton, James M Larkin, Marco Gerlinger, Aron C Eklund, Michael Howell, Gordon Stamp, Julian Downward, Martin Gore, P Andrew Futreal, Bernard Escudier, Fabrice Andre, Laurence Albiges, Benoit Beuselinck, Stephane Oudard, Jens Hoffmann, Balázs Gyorffy…

    Citation: Genome Medicine 2010 2:53

    Content type: Correspondence

    Published on:

  7. The recent advent of genomic approaches for association testing is starting to enable a more comprehensive understanding of the role of human immune response in determining infectious disease outcomes. Progres...

    Authors: Chiea C Khor and Martin L Hibberd

    Citation: Genome Medicine 2010 2:52

    Content type: Commentary

    Published on:

  8. With the continued exponential expansion of publicly available genomic data and access to low-cost, high-throughput molecular technologies for profiling patient populations, computational technologies and info...

    Authors: Joel T Dudley, Yannick Pouliot, Rong Chen, Alexander A Morgan and Atul J Butte

    Citation: Genome Medicine 2010 2:51

    Content type: Correspondence

    Published on:

  9. Coronary heart disease (CHD) and stroke were key outcomes in the Women's Health Initiative (WHI) randomized trials of postmenopausal estrogen and estrogen plus progestin therapy. We recently reported a large n...

    Authors: Ross L Prentice, Sophie Paczesny, Aaron Aragaki, Lynn M Amon, Lin Chen, Sharon J Pitteri, Martin McIntosh, Pei Wang, Tina Buson Busald, Judith Hsia, Rebecca D Jackson, Jacques E Rossouw, JoAnn E Manson, Karen Johnson, Charles Eaton and Samir M Hanash

    Citation: Genome Medicine 2010 2:48

    Content type: Research

    Published on:

  10. The ethical issues surrounding genotyping for single nucleotide polymorphisms (SNPs) or for copy number variation (CNV) are very different. SNP genotyping can focus on ancestry, risk probability, single gene d...

    Authors: Arthur L Beaudet

    Citation: Genome Medicine 2010 2:42

    Content type: Commentary

    Published on:

  11. Myeloid leukemias are a heterogeneous group of diseases originating from bone marrow myeloid progenitor cells. Patients with myeloid leukemias can achieve long-term survival through targeted therapy, cure afte...

    Authors: Sigrun M Hjelle, Rakel B Forthun, Ingvild Haaland, Håkon Reikvam, Gry Sjøholt, Øystein Bruserud and Bjørn T Gjertsen

    Citation: Genome Medicine 2010 2:41

    Content type: Review

    Published on:

  12. Panic disorder (PD) is the most common anxiety disorder. Although PD seems to occur unprovoked and the underlying etiology is not well understood, studies have consistently shown that genetic factors explain a...

    Authors: Johannes Schumacher and Jürgen Deckert

    Citation: Genome Medicine 2010 2:40

    Content type: Minireview

    Published on:

  13. The biological causes of childhood obesity are complex. Environmental factors, such as massive marketing campaigns for food leading to over-nutrition and snacking and the decline in physical activity, have und...

    Authors: Hélène Choquet and David Meyre

    Citation: Genome Medicine 2010 2:36

    Content type: Review

    Published on:

  14. Genome-wide maps of DNA regulatory elements and their interaction with transcription factors may form a framework for understanding regulatory circuits and gene expression control in human disease, but how the...

    Authors: Mun-Kit Choy, Mehregan Movassagh, Lee Siggens, Ana Vujic, Martin Goddard, Ana Sánchez, Neil Perkins, Nichola Figg, Martin Bennett, Jason Carroll and Roger Foo

    Citation: Genome Medicine 2010 2:37

    Content type: Research

    Published on:

  15. Schizophrenia is a multifactorial complex disease with a large impact on society. Many hypotheses have been proposed over the years to explain its causes, and genomics and functional genomic approaches may she...

    Authors: Benedetta Frida Baldi, Christine Hoyer and Nicolas Le Novère

    Citation: Genome Medicine 2010 2:32

    Content type: Minireview

    Published on:

  16. Patients are beginning to present to healthcare providers with the results of high-throughput individualized genotyping, and interpreting these results in the context of the explosive growth of literature link...

    Authors: Alexander A Morgan, Rong Chen and Atul J Butte

    Citation: Genome Medicine 2010 2:30

    Content type: Commentary

    Published on:

  17. Young age at portoenterostomy has been linked to improved outcome in biliary atresia, but pre-existing biological factors may influence the rate of disease progression. In this study, we aimed to determine whe...

    Authors: Katie Moyer, Vivek Kaimal, Cristina Pacheco, Reena Mourya, Huan Xu, Pranavkumar Shivakumar, Ranajit Chakraborty, Marepalli Rao, John C Magee, Kevin Bove, Bruce J Aronow, Anil G Jegga and Jorge A Bezerra

    Citation: Genome Medicine 2010 2:33

    Content type: Research

    Published on:

  18. Among the various sequence repeats that shape the human genome, trinucleotide repeats have attracted special interest as a result of their involvement in a class of human genetic disorders known as triplet rep...

    Authors: Piotr Kozlowski, Krzysztof Sobczak and Wlodzimierz J Krzyzosiak

    Citation: Genome Medicine 2010 2:29

    Content type: Minireview

    Published on:

  19. Current policy statements discourage identification of disease carrier status in minors on the grounds that carrier information is of mainly reproductive significance. Such policies fail to consider that the c...

    Authors: Lainie Friedman Ross

    Citation: Genome Medicine 2010 2:25

    Content type: Commentary

    Published on:

  20. As our knowledge of the complexity of gene architecture grows, and we increase our understanding of the subtleties of gene expression, the process of accurately describing disease-causing gene variants has bec...

    Authors: Raymond Dalgleish, Paul Flicek, Fiona Cunningham, Alex Astashyn, Raymond E Tully, Glenn Proctor, Yuan Chen, William M McLaren, Pontus Larsson, Brendan W Vaughan, Christophe Béroud, Glen Dobson, Heikki Lehväslaiho, Peter EM Taschner, Johan T den Dunnen, Andrew Devereau…

    Citation: Genome Medicine 2010 2:24

    Content type: Correspondence

    Published on:

  21. Autism spectrum disorders (ASD) are neurodevelopmental disorders characterized by abnormalities in reciprocal social interactions and language development and/or usage, and by restricted interests and repetiti...

    Authors: Tewarit Sarachana, Rulun Zhou, Guang Chen, Husseini K Manji and Valerie W Hu

    Citation: Genome Medicine 2010 2:23

    Content type: Research

    Published on:

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