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  1. 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
  2. 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
  3. More than 300,000 children are newly infected with HIV each year, predominantly through mother-to-child transmission (HIV MTCT). Identification of host genetic traits associated with transmission may more clea...

    Authors: Bonnie R Joubert, Ethan M Lange, Nora Franceschini, Victor Mwapasa, Kari E North and Steven R Meshnick
    Citation: Genome Medicine 2010 2:17

    The Erratum to this article has been published in Genome Medicine 2010 2:76

  4. How to efficiently integrate the daily practice of molecular biologists, geneticists, and clinicians with the emerging computational strategies from systems biology is still much of an open question.

    Authors: Roland Barriot, Jeroen Breckpot, Bernard Thienpont, Sylvain Brohée, Steven Van Vooren, Bert Coessens, Leon-Charles Tranchevent, Peter Van Loo, Marc Gewillig, Koenraad Devriendt and Yves Moreau
    Citation: Genome Medicine 2010 2:16
  5. Antibiotic resistance is a public health issue of global dimensions with a significant impact on morbidity, mortality and healthcare-associated costs. The problem has recently been worsened by the steady incre...

    Authors: Gian Maria Rossolini and Maria Cristina Thaller
    Citation: Genome Medicine 2010 2:15
  6. Continual discoveries on non-coding RNA (ncRNA) have changed the landscape of human genetics and molecular biology. Over the past ten years it has become clear that ncRNAs are involved in many physiological ce...

    Authors: Marco Galasso, Maria Elena Sana and Stefano Volinia
    Citation: Genome Medicine 2010 2:12
  7. Evidence for genetic contribution to complex diseases is described by recurrence risks to relatives of diseased individuals. Genome-wide association studies allow a description of the genetics of the same dise...

    Authors: Naomi R Wray and Michael E Goddard
    Citation: Genome Medicine 2010 2:10
  8. Skeletal muscle insulin resistance (IR) is considered a critical component of type II diabetes, yet to date IR has evaded characterization at the global gene expression level in humans. MicroRNAs (miRNAs) are ...

    Authors: Iain J Gallagher, Camilla Scheele, Pernille Keller, Anders R Nielsen, Judit Remenyi, Christian P Fischer, Karim Roder, John Babraj, Claes Wahlestedt, Gyorgy Hutvagner, Bente K Pedersen and James A Timmons
    Citation: Genome Medicine 2010 2:9
  9. Ewing's sarcoma family tumors are a good example of how genome research has advanced our understanding of the molecular pathogenesis of an otherwise enigmatic disease. This group of embryonal bone tumors is ch...

    Authors: Heinrich Kovar
    Citation: Genome Medicine 2010 2:8
  10. Hepatitis C is a viral disease transmitted principally by blood, which affects millions of people worldwide. A significant proportion of those affected develop severe liver disease as a result. Only a fraction...

    Authors: David G Nathan and Stuart H Orkin
    Citation: Genome Medicine 2010 2:4
  11. Specific language impairment (SLI) is defined as an unexpected and persistent impairment in language ability despite adequate opportunity and intelligence and in the absence of any explanatory medical conditio...

    Authors: Dianne F Newbury, Simon E Fisher and Anthony P Monaco
    Citation: Genome Medicine 2010 2:6
  12. Primary biliary cirrhosis (PBC) is an autoimmune hepatobiliary disease characterized by immune-mediated injury of small and medium-sized bile ducts, eventually leading to liver cirrhosis. Several studies have ...

    Authors: Carlo Selmi, Natalie J Torok, Andrea Affronti and M Eric Gershwin
    Citation: Genome Medicine 2010 2:5
  13. Genome-wide association studies have detected dozens of variants underlying complex diseases, although it is uncertain how often these discoveries will translate into clinically useful predictors. Here, to imp...

    Authors: Douglas M Ruderfer, Joshua Korn and Shaun M Purcell
    Citation: Genome Medicine 2010 2:2
  14. Cancer cachexia is a multi-organ tissue wasting syndrome that contributes to morbidity and mortality in many cancer patients. Skeletal muscle loss represents an established key feature yet there is no molecula...

    Authors: Nathan A Stephens, Iain J Gallagher, Olav Rooyackers, Richard J Skipworth, Ben H Tan, Troels Marstrand, James A Ross, Denis C Guttridge, Lars Lundell, Kenneth C Fearon and James A Timmons
    Citation: Genome Medicine 2010 2:1
  15. Although statins are generally well tolerated, the most common adverse drug reaction from statin therapy is myopathy. This article reviews the current pharmacogenomic knowledge of statin-induced myopathy. Furt...

    Authors: Bas JM Peters, Olaf H Klungel, Frank L Visseren, Anthonius de Boer and Anke-Hilse Maitland-van der Zee
    Citation: Genome Medicine 2009 1:120
  16. Public health preparedness requires effective surveillance of and rapid response to infectious disease outbreaks. Inclusion of research activities within the outbreak setting provides important opportunities t...

    Authors: Nicole F Dowling, Marta Gwinn and Alison Mawle
    Citation: Genome Medicine 2009 1:119
  17. Women's Health Initiative randomized trials of postmenopausal hormone therapy reported intervention effects on several clinical outcomes, with some important differences between estrogen alone and estrogen plu...

    Authors: Sharon J Pitteri, Samir M Hanash, Aaron Aragaki, Lynn M Amon, Lin Chen, Tina Busald Buson, Sophie Paczesny, Hiroyuki Katayama, Hong Wang, Melissa M Johnson, Qing Zhang, Martin McIntosh, Pei Wang, Charles Kooperberg, Jacques E Rossouw, Rebecca D Jackson…
    Citation: Genome Medicine 2009 1:121
  18. The peroxisome proliferator-activated receptors (PPARs) are ligand-activated transcription factors and members of the nuclear receptor superfamily. The PPAR family consists of three members: PPARα, PPARγ, and ...

    Authors: Lee D Roberts, David G Hassall, Deborah A Winegar, John N Haselden, Andrew W Nicholls and Julian L Griffin
    Citation: Genome Medicine 2009 1:115
  19. Chronic obstructive pulmonary disease (COPD) is a common problem worldwide, and it is recognized that the term encompasses overlapping sub-phenotypes of disease. The development of a sub-phenotype may be deter...

    Authors: Alice M Wood, See Ling Tan and Robert A Stockley
    Citation: Genome Medicine 2009 1:112
  20. Genomic data often persist far beyond the initial study in which they were generated. But the true value of the data is tied to their being both used and useful, and the usefulness of the data relies intimatel...

    Authors: John Quackenbush
    Citation: Genome Medicine 2009 1:111
  21. Although the literature concerning statistical testing for genotype-phenotype association in family-based and population-based studies is very extensive, until recently the sex chromosomes have received little...

    Authors: David G Clayton
    Citation: Genome Medicine 2009 1:110
  22. A function for the microRNA (miRNA) pathway in vascular development and angiogenesis has been firmly established. miRNAs with selective expression in the vasculature are attractive as possible targets in miRNA...

    Authors: Erik Larsson, Peder Fredlund Fuchs, Johan Heldin, Irmeli Barkefors, Cecilia Bondjers, Guillem Genové, Christelle Arrondel, Pär Gerwins, Christine Kurschat, Bernhard Schermer, Thomas Benzing, Scott J Harvey, Johan Kreuger and Per Lindahl
    Citation: Genome Medicine 2009 1:108
  23. The inflammatory bowel diseases, Crohn's disease and ulcerative colitis, pose a fascinating challenge to specialists in gastroenterology, infectious diseases, immunology and genetics and an often crushing burd...

    Authors: David G Nathan and Stuart H Orkin
    Citation: Genome Medicine 2009 1:103
  24. Technological advances have enabled a better characterization of all the genetic alterations in tumors. A picture that emerges is that tumor cells are much more genetically heterogeneous than originally expect...

    Authors: Sandro J de Souza, Beatriz Stransky and Anamaria A Camargo
    Citation: Genome Medicine 2009 1:101
  25. Genome-wide association studies are the most comprehensive and straightforward approach to teasing out the identity of genetic polymorphisms associated with any given disease or characteristic. With the availa...

    Authors: Bruce N Cronstein
    Citation: Genome Medicine 2009 1:98
  26. Transposable elements (TEs) have been consistently underestimated in their contribution to genetic instability and human disease. TEs can cause human disease by creating insertional mutations in genes, and als...

    Authors: Victoria P Belancio, Prescott L Deininger and Astrid M Roy-Engel
    Citation: Genome Medicine 2009 1:97

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