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Volume 14, Issue 8 (August 2012) |
 | In this issue Research Highlights Review Special Article Original Research Article Brief Reports Letter to the Editor ACMG Policy Statement Corrigendum Podcast
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| Genetics in Medicine (GIM), the official journal of the American College of Medical Genetics and Genomics, offers an unprecedented forum for the presentation of innovative, clinically relevant papers in contemporary genetic medicine. GIM is a must read for all physicians wishing to apply new genetic findings to their medical practice. Submit to GIM today! | |
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Research Highlights | Top |
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In This IssueGenet Med 2012 14: 701; 10.1038/gim.2012.97 Full Text |
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News BriefsGenet Med 2012 14: 702; 10.1038/gim.2012.98 Full Text |
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Review | Top |
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Decision analysis, economic evaluation, and newborn screening: challenges and opportunities Lisa A. Prosser, Scott D. Grosse, Alex R. Kemper, Beth A. Tarini and James M. Perrin Genet Med 2012 14: 703-712; advance online publication, April 5, 2012; 10.1038/gim.2012.24 Abstract | Full Text |
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Special Article | Top |
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Communicating new knowledge on previously reported genetic variants Samuel J. Aronson, Eugene H. Clark, Matthew Varugheese, Samantha Baxter, Lawrence J. Babb and Heidi L. Rehm Genet Med 2012 14: 713-719; advance online publication, April 5, 2012; 10.1038/gim.2012.19 Abstract | Full Text |
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Original Research Articles | Top |
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Colorectal cancer risk is not associated with increased levels of homozygosity in Saudi Arabia Abdul K. Siraj, Hanif G. Khalak, Mehar Sultana, Maha Al-Rasheed, Prashant Bavi, Nasser Al-Sanea, Fouad Al-Dayel, Shahab Uddin, Fowzan S. Alkuraya and Khawla S. Al-Kuraya Genet Med 2012 14: 720-728; advance online publication, April 5, 2012; 10.1038/gim.2012.27 Abstract | Full Text |
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AGG interruptions within the maternal FMR1 gene reduce the risk of offspring with fragile X syndrome Carolyn M. Yrigollen, Blythe Durbin-Johnson, Louise Gane, David L. Nelson, Randi Hagerman, Paul J. Hagerman and Flora Tassone Genet Med 2012 14: 729-736; advance online publication, April 12, 2012; 10.1038/gim.2012.34 Abstract | Full Text |
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Bone mineral density in glycogen storage disease type Ia and Ib Laurie A. Minarich, Alexander Kirpich, Laurie M. Fiske and David A. Weinstein Genet Med 2012 14: 737-741; advance online publication, April 5, 2012; 10.1038/gim.2012.36 Abstract | Full Text |
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Effectiveness of a condensed protocol for disclosing APOE genotype and providing risk education for Alzheimer disease J. Scott Roberts, Clara A. Chen, Wendy R. Uhlmann and Robert C. Green ; for the REVEAL Study Group Genet Med 2012 14: 742-748; advance online publication, April 12, 2012; 10.1038/gim.2012.37 Abstract | Full Text |
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Brief Reports | Top |
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Genetic testing for inherited heart diseases: longitudinal impact on health-related quality of life Jodie Ingles, Laura Yeates, Lisa O’Brien, Julie McGaughran, Paul A. Scuffham, John Atherton and Christopher Semsarian Genet Med 2012 14: 749-752; advance online publication, May 3, 2012; 10.1038/gim.2012.47 Abstract | Full Text |
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Uniparental disomy: can SNP array data be used for diagnosis? Tracy Tucker, Kamilla Schlade-Bartusiak, Patrice Eydoux, Tanya N. Nelson and Lindsay Brown Genet Med 2012 14: 753-756; advance online publication, April 26, 2012; 10.1038/gim.2012.35 Abstract | Full Text |
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Letter to the Editor | Top |
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Correction of a short cardiac PR interval in a 12-year-old girl with late-onset Pompe disease following enzyme replacement therapy Cristina Fernández, Agustín Legido, Reena Jethva and Harold G. Marks Genet Med 2012 14: 757-758; 10.1038/gim.2012.61 Full Text |
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ACMG Policy Statement | Top |
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Points to consider in the clinical application of genomic sequencing ACMG Board of Directors Genet Med 2012 14: 759-761; 10.1038/gim.2012.74 PDF |
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Corrigendum | Top |
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CORRIGENDUM: Clinical observation of patients with Fabry disease after switching from agalsidase beta (Fabrazyme) to agalsidase alfa (Replagal)Genet Med 2012 14: 762; 10.1038/gim.2012.62 Full Text |
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Podcast | Top |
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Podcast |
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Genepod – the monthly podcast from Genetics in Medicine Join us as we delve into the latest research in medical genetics and genomics, featuring highlighted content from this leading journal. Genepod and the contents of GIM should be of interest to anyone who uses genetics or genomics in medical practice or in medically-related research. Listen now at www.nature.com/gim/podcast | |
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