Genetics in Medicine contents: Volume 14, Issue 5

TABLE OF CONTENTS Volume 14, Issue 5 (May 2012) In this issue Research Highlights Genetest Review Original Research Articles Education Report Letters to the Editor ACMG College News Podcast AOP Advertisement Clinical Whole Exome Sequencing is now available from the Medical Genetics Laboratories at Baylor College of Medicine. Whole Exome Sequencing applies the power of next generation sequencing technology to clinical genetics in a CLIA approved setting with clinical interpretation of the sequence information. For more information, please email CMA@bcm.edu Sign up for e-alerts Recommend to your library Web feed Subscribe Advertisement Scripps Translational Science Institute is conducting the 'Idiopathic Diseases of Man' study to evaluate the use of whole genome sequencing for diagnosis and treatment of severe idiopathic diseases. There have been some successes using this technology in the clinical setting. If you have a patient with a severe disease who lacks a diagnosis, please submit a case summary and contact information to IDIOM@scrippshealth.org.   Research Highlights Top In This Issue Genet Med 2012 14: 499; 10.1038/gim.2012.42 Full Text News Briefs Genet Med 2012 14: 499-500; 10.1038/gim.2012.59 Full Text Genetest Review Top Argininosuccinate lyase deficiency Sandesh C.S. Nagamani, Ayelet Erez and Brendan Lee Genet Med 2012 14: 501-507; advance online publication, January 5, 2012; 10.1038/gim.2011.1 Abstract | Full Text Original Research Articles Top NF1 microduplications: identification of seven nonrelated individuals provides further characterization of the phenotype Kimberly J. Moles, Gordon C. Gowans, Satyanarayana Gedela, David Beversdorf, Arthur Yu, Laurie H. Seaver, Roger A. Schultz, Jill A. Rosenfeld, Beth S. Torchia and Lisa G. Shaffer Genet Med 2012 14: 508-514; advance online publication, January 12, 2012; 10.1038/gim.2011.46 Abstract | Full Text Autozygome maps dispensable DNA and reveals potential selective bias against nullizygosity Hanif G. Khalak, Salma M. Wakil, Faiqa Imtiaz, Khushnooda Ramzan, Batoul Baz, Abeer Almostafa, Samya Hagos, Fatema Alzahrani, Nada Abu-Dhaim, Leen Abu Safieh, Latifa Al-Jbali, Mohammed S. Al-Hamed, Dorota Monies, Mohammed Aldahmesh, Mohammed S. Al-Dosari, Namik Kaya, Hanan Shamseldin, Ranad Shaheen, May Al-Rashed, Mais Hashem, Nada Al-Tassan, Brian Meyer, Anas M. Alazami and Fowzan S. Alkuraya Genet Med 2012 14: 515-519; advance online publication, January 5, 2012; 10.1038/gim.2011.28 Abstract | Full Text Barriers to integrating personalized medicine into clinical practice: a best–worst scaling choice experiment Mehdi Najafzadeh, Larry D. Lynd, Jennifer C. Davis, Stirling Bryan, Aslam Anis, Marco Marra and Carlo A. Marra Genet Med 2012 14: 520-526; advance online publication, January 26, 2012; 10.1038/gim.2011.26 Abstract | Full Text BRCA1/2 carriers: their childbearing plans and theoretical intentions about having preimplantation genetic diagnosis and prenatal diagnosis Claire Julian-Reynier, Roxane Fabre, Isabelle Coupier, Dominique Stoppa-Lyonnet, Christine Lasset, Olivier Caron, Emmanuelle Mouret-Fourme, Pascaline Berthet, Laurence Faivre, Marc Frenay, Paul Gesta, Laurence Gladieff, Anne-Deborah Bouhnik, Christel Protière and Catherine Noguès Genet Med 2012 14: 527-534; advance online publication, January 12, 2012; 10.1038/gim.2011.27 Abstract | Full Text A pre-visit website with question prompt sheet for counselees facilitates communication in the first consultation for breast cancer genetic counseling: findings from a randomized controlled trial Akke Albada, Sandra van Dulmen, Margreet G.E.M. Ausems and Jozien M. Bensing Genet Med 2012 14: 535-542; advance online publication, January 12, 2012; 10.1038/gim.2011.42 Abstract | Full Text A founder mutation in LEPRE1 carried by 1.5% of West Africans and 0.4% of African Americans causes lethal recessive osteogenesis imperfecta Wayne A. Cabral, Aileen M. Barnes, Adebowale Adeyemo, Kelly Cushing, David Chitayat, Forbes D. Porter, Susan R. Panny, Fizza Gulamali-Majid, Sarah A. Tishkoff, Timothy R. Rebbeck, Serigne M. Gueye, Joan E. Bailey-Wilson, Lawrence C. Brody, Charles N. Rotimi and Joan C. Marini Genet Med 2012 14: 543-551; advance online publication, January 26, 2012; 10.1038/gim.2011.44 Abstract | Full Text Education Report Top The development and implementation of an in-service exam for medical genetics residency programs Nathaniel H. Robin, V. Reid Sutton, John Caldwell, James Jackson, Mira Irons and Laurie Demmer and the members of the in-service exam subcommittees Genet Med 2012 14: 552-557; advance online publication, January 26, 2012; 10.1038/gim.2011.41 Abstract | Full Text Letters to the Editor Top Considering factors affecting the parental decision to abort after a prenatal diagnosis of a sex chromosome abnormality Jacqueline J.P.M. Pieters, Angelique J.A. Kooper, Ton B. Feuth and Arie P.T. Smits Genet Med 2012 14: 558-559; 10.1038/gim.2012.32 Full Text Response to Pieters et al. Kwon Chan Jeon, Lei-Shih Chen and Patricia Goodson Genet Med 2012 14: 559; 10.1038/gim.2012.33 Full Text ACMG College News Top ACMG College News Genet Med 2012 14: 352; 10.1038/gim.2012.46 PDF Podcast Top Podcast   Advertisement 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     Please note that you need to be a subscriber or site-license holder to enjoy full-text access to Genetics in Medicine. In order to do so, please purchase a subscription. You have been sent this Table of Contents Alert because you have opted in to receive it. 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