GENETICS IN MEDICINE
December 2013 Volume 15 Number 12, pp 913 - 1009
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http://links.ealert.nature.com/ctt?kn=30&ms=NDQ1MTc0NzES1&r=MTMxNzgxNTE5NjgS1&b=2&j=MjE3NzYwMDI2S0&mt=1&rt=0
http://links.ealert.nature.com/ctt?kn=53&ms=NDQ1MTc0NzES1&r=MTMxNzgxNTE5NjgS1&b=2&j=MjE3NzYwMDI2S0&mt=1&rt=0
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Read the GIM Web Focus on Cardiology
Genomic advances are revolutionizing our understanding of cardiology. Genomic analysis can now shed light on vast numbers of previously enigmatic conditions and advanced sequencing techniques are increasingly used in the cardiology clinic. Find out more by reading this insightful web focus.
http://links.ealert.nature.com/ctt?kn=40&ms=NDQ1MTc0NzES1&r=MTMxNzgxNTE5NjgS1&b=2&j=MjE3NzYwMDI2S0&mt=1&rt=0
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RESEARCH HIGHLIGHTS
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In This Issue
http://links.ealert.nature.com/ctt?kn=25&ms=NDQ1MTc0NzES1&r=MTMxNzgxNTE5NjgS1&b=2&j=MjE3NzYwMDI2S0&mt=1&rt=0
News Briefs
http://links.ealert.nature.com/ctt?kn=21&ms=NDQ1MTc0NzES1&r=MTMxNzgxNTE5NjgS1&b=2&j=MjE3NzYwMDI2S0&mt=1&rt=0
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SPECIAL ARTICLE
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Minimizing liability risks under the ACMG recommendations for reporting incidental findings in clinical exome and genome sequencing
Barbara J. Evans
Abstract: http://links.ealert.nature.com/ctt?kn=23&ms=NDQ1MTc0NzES1&r=MTMxNzgxNTE5NjgS1&b=2&j=MjE3NzYwMDI2S0&mt=1&rt=0
Article: http://links.ealert.nature.com/ctt?kn=18&ms=NDQ1MTc0NzES1&r=MTMxNzgxNTE5NjgS1&b=2&j=MjE3NzYwMDI2S0&mt=1&rt=0
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COMMENTARY
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Personalized medicine and genetic malpractice
Gary E. Marchant and Rachel A. Lindor
http://links.ealert.nature.com/ctt?kn=20&ms=NDQ1MTc0NzES1&r=MTMxNzgxNTE5NjgS1&b=2&j=MjE3NzYwMDI2S0&mt=1&rt=0
[ldquo]I prefer a child with [hellip][rdquo]: designer babies, another controversial patent in the arena of direct-to-consumer genomics
Sigrid Sterckx, Julian Cockbain, Heidi C. Howard and Pascal Borry
http://links.ealert.nature.com/ctt?kn=16&ms=NDQ1MTc0NzES1&r=MTMxNzgxNTE5NjgS1&b=2&j=MjE3NzYwMDI2S0&mt=1&rt=0
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ORIGINAL RESEARCH ARTICLE
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Implementation of routine screening for Lynch syndrome in university and safety-net health system settings: successes and challenges
Evelyn Marquez, Zhuo Geng, Sarah Pass, Pia Summerour, Linda Robinson, Venetia Sarode and Samir Gupta
Abstract: http://links.ealert.nature.com/ctt?kn=17&ms=NDQ1MTc0NzES1&r=MTMxNzgxNTE5NjgS1&b=2&j=MjE3NzYwMDI2S0&mt=1&rt=0
Article: http://links.ealert.nature.com/ctt?kn=10&ms=NDQ1MTc0NzES1&r=MTMxNzgxNTE5NjgS1&b=2&j=MjE3NzYwMDI2S0&mt=1&rt=0
Underutilization of Lynch syndrome screening in a multisite study of patients with colorectal cancer
Deanna S. Cross, Alanna Kulchak Rahm, Tia L. Kauffman, Jennifer Webster, Anh Quynh Le, Heather Spencer Feigelson, Gwen Alexander, Paul Meier, Adedayo A. Onitilo, Pamala A. Pawloski, Andrew E. Williams, Stacey Honda, YeeHwa Daida, Catherine A. McCarty and Katrina A.B. Goddard on behalf of the CERGEN study team
Abstract: http://links.ealert.nature.com/ctt?kn=8&ms=NDQ1MTc0NzES1&r=MTMxNzgxNTE5NjgS1&b=2&j=MjE3NzYwMDI2S0&mt=1&rt=0
Article: http://links.ealert.nature.com/ctt?kn=75&ms=NDQ1MTc0NzES1&r=MTMxNzgxNTE5NjgS1&b=2&j=MjE3NzYwMDI2S0&mt=1&rt=0
Alu-mediated nonallelic homologous and nonhomologous recombination in the BMPR2 gene in heritable pulmonary arterial hypertension
Masaharu Kataoka, Yuki Aimi, Ryoji Yanagisawa, Masae Ono, Akira Oka, Keiichi Fukuda, Hideaki Yoshino, Toru Satoh and Shinobu Gamou
Abstract: http://links.ealert.nature.com/ctt?kn=64&ms=NDQ1MTc0NzES1&r=MTMxNzgxNTE5NjgS1&b=2&j=MjE3NzYwMDI2S0&mt=1&rt=0
Article: http://links.ealert.nature.com/ctt?kn=65&ms=NDQ1MTc0NzES1&r=MTMxNzgxNTE5NjgS1&b=2&j=MjE3NzYwMDI2S0&mt=1&rt=0
The use of next-generation sequencing in clinical diagnosis of familial hypercholesterolemia
**OPEN**
Jana Vandrovcova, Ellen R.A. Thomas, Santosh S Atanur, Penny J. Norsworthy, Clare Neuwirth, Yvonne Tan, Dalia Kasperaviciute, Jennifer Biggs, Laurence Game, Michael Mueller, Anne K. Soutar and Timothy J. Aitman
Abstract: http://links.ealert.nature.com/ctt?kn=61&ms=NDQ1MTc0NzES1&r=MTMxNzgxNTE5NjgS1&b=2&j=MjE3NzYwMDI2S0&mt=1&rt=0
Article: http://links.ealert.nature.com/ctt?kn=62&ms=NDQ1MTc0NzES1&r=MTMxNzgxNTE5NjgS1&b=2&j=MjE3NzYwMDI2S0&mt=1&rt=0
Analysis of left ventricular mass in untreated men and in men treated with agalsidase-[beta]: data from the Fabry Registry
**OPEN**
Dominique P. Germain, Frank Weidemann, Ademola Abiose, Manesh R. Patel, Marta Cizmarik, J. Alexander Cole, Dana Beitner-Johnson, Karelle Benistan, Gustavo Cabrera, Joel Charrow, Ilkka Kantola, Ales Linhart, Kathy Nicholls, Markus Niemann, C. Ronald Scott, Katherine Sims, Stephen Waldek, David G. Warnock and Jorg Strotmann ; on behalf of the Fabry Registry
Abstract: http://links.ealert.nature.com/ctt?kn=68&ms=NDQ1MTc0NzES1&r=MTMxNzgxNTE5NjgS1&b=2&j=MjE3NzYwMDI2S0&mt=1&rt=0
Article: http://links.ealert.nature.com/ctt?kn=69&ms=NDQ1MTc0NzES1&r=MTMxNzgxNTE5NjgS1&b=2&j=MjE3NzYwMDI2S0&mt=1&rt=0
Self-reported reproductive health in women with tuberous sclerosis complex
Emily K. Gabitzsch, Syed S. Hashmi, Mary Kay Koenig, Marianna H. Raia, Vicky H. Whittemore, Hope Northrup, Shahla Nader and Michael J. Gambello
Abstract: http://links.ealert.nature.com/ctt?kn=66&ms=NDQ1MTc0NzES1&r=MTMxNzgxNTE5NjgS1&b=2&j=MjE3NzYwMDI2S0&mt=1&rt=0
Article: http://links.ealert.nature.com/ctt?kn=67&ms=NDQ1MTc0NzES1&r=MTMxNzgxNTE5NjgS1&b=2&j=MjE3NzYwMDI2S0&mt=1&rt=0
Clinical predictors of genetic testing outcomes in hypertrophic cardiomyopathy
Jodie Ingles, Tanya Sarina, Laura Yeates, Lauren Hunt, Ivan Macciocca, Louise McCormack, Ingrid Winship, Julie McGaughran, John Atherton and Christopher Semsarian
Abstract: http://links.ealert.nature.com/ctt?kn=78&ms=NDQ1MTc0NzES1&r=MTMxNzgxNTE5NjgS1&b=2&j=MjE3NzYwMDI2S0&mt=1&rt=0
Article: http://links.ealert.nature.com/ctt?kn=12&ms=NDQ1MTc0NzES1&r=MTMxNzgxNTE5NjgS1&b=2&j=MjE3NzYwMDI2S0&mt=1&rt=0
Insurance coverage of medical foods for treatment of inherited metabolic disorders
**OPEN**
Susan A. Berry, Mary Kay Kenney, Katharine B. Harris, Rani H. Singh, Cynthia A. Cameron, Jennifer N. Kraszewski, Jill Levy-Fisch, Jill F. Shuger, Carol L. Greene, Michele A. Lloyd-Puryear and Coleen A. Boyle
Abstract: http://links.ealert.nature.com/ctt?kn=13&ms=NDQ1MTc0NzES1&r=MTMxNzgxNTE5NjgS1&b=2&j=MjE3NzYwMDI2S0&mt=1&rt=0
Article: http://links.ealert.nature.com/ctt?kn=5&ms=NDQ1MTc0NzES1&r=MTMxNzgxNTE5NjgS1&b=2&j=MjE3NzYwMDI2S0&mt=1&rt=0
Changes in plasma and urine globotriaosylceramide levels do not predict Fabry disease progression over 1 year of agalsidase alfa
**OPEN**
Raphael Schiffmann, Markus Ries, Derek Blankenship, Kathy Nicholls, Atul Mehta, Joe T.R. Clarke, Robert D. Steiner, Michael Beck, Bruce A. Barshop, William Rhead, Michael West, Rick Martin, David Amato, Nitin Nair and Pedro Huertas
Abstract: http://links.ealert.nature.com/ctt?kn=6&ms=NDQ1MTc0NzES1&r=MTMxNzgxNTE5NjgS1&b=2&j=MjE3NzYwMDI2S0&mt=1&rt=0
Article: http://links.ealert.nature.com/ctt?kn=7&ms=NDQ1MTc0NzES1&r=MTMxNzgxNTE5NjgS1&b=2&j=MjE3NzYwMDI2S0&mt=1&rt=0
Renal growth in isolated methylmalonic acidemia
Paul S. Kruszka, Irini Manoli, Jennifer L. Sloan, Jeffrey B. Kopp and Charles P. Venditti
Abstract: http://links.ealert.nature.com/ctt?kn=9&ms=NDQ1MTc0NzES1&r=MTMxNzgxNTE5NjgS1&b=2&j=MjE3NzYwMDI2S0&mt=1&rt=0
Article: http://links.ealert.nature.com/ctt?kn=1&ms=NDQ1MTc0NzES1&r=MTMxNzgxNTE5NjgS1&b=2&j=MjE3NzYwMDI2S0&mt=1&rt=0
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EDUCATION REPORT
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NCI think tank concerning the identifiability of biospecimens and [ldquo]omic[rdquo] data
Carol J. Weil, Leah E. Mechanic, Tiffany Green, Christopher Kinsinger, Nicole C. Lockhart, Stefanie A. Nelson, Laura L. Rodriguez and Laura D. Buccini
Abstract: http://links.ealert.nature.com/ctt?kn=2&ms=NDQ1MTc0NzES1&r=MTMxNzgxNTE5NjgS1&b=2&j=MjE3NzYwMDI2S0&mt=1&rt=0
Article: http://links.ealert.nature.com/ctt?kn=3&ms=NDQ1MTc0NzES1&r=MTMxNzgxNTE5NjgS1&b=2&j=MjE3NzYwMDI2S0&mt=1&rt=0
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BRIEF REPORT
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A mosaic PTEN mutation causing Cowden syndrome identified by deep sequencing
Colin C. Pritchard, Christina Smith, Tatyana Marushchak, Karen Koehler, Heidi Holmes, Wendy Raskind, Tom Walsh and Robin L. Bennett
Abstract: http://links.ealert.nature.com/ctt?kn=4&ms=NDQ1MTc0NzES1&r=MTMxNzgxNTE5NjgS1&b=2&j=MjE3NzYwMDI2S0&mt=1&rt=0
Article: http://links.ealert.nature.com/ctt?kn=35&ms=NDQ1MTc0NzES1&r=MTMxNzgxNTE5NjgS1&b=2&j=MjE3NzYwMDI2S0&mt=1&rt=0
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REVIEWERS
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Reviewer Acknowledgment 2013
Article: http://links.ealert.nature.com/ctt?kn=31&ms=NDQ1MTc0NzES1&r=MTMxNzgxNTE5NjgS1&b=2&j=MjE3NzYwMDI2S0&mt=1&rt=0
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