Genetics in Medicine contents: Volume 14, Issue 3

TABLE OF CONTENTS Volume 14, Issue 3 (March 2012) In this issue Research Highlights Genetest Review Commentary Original Research Articles Brief Report Letters to the Editor ACMG College News Podcast Sign up for e-alerts Recommend to your library Web feed Subscribe Advertisement Genetics in Medicine (GIM) is the official journal of the American College of Medical Genetics with a mission to enhance the knowledge and practice of medical genetics and genomics. This peer-reviewed monthly journal 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. Recommend GIM to your library today!   Research Highlights Top In This Issue Genet Med 2012 14: 283; 10.1038/gim.2012.28 Full Text News Briefs Genet Med 2012 14: 283-284; 10.1038/gim.2012.29 Full Text GeneTest Review Top Costello syndrome: a Ras/mitogen activated protein kinase pathway syndrome (rasopathy) resulting from HRAS germline mutations Karen W. Gripp and Angela E. Lin Genet Med 2012 14: 285-292; 10.1038/gim.0b013e31822dd91f Abstract | Full Text Commentary Top Dialogues, dilemmas, and disclosures: genomic research and incidental findings Lynn W. Bush and Karen H. Rothenberg Genet Med 2012 14: 293-295; 10.1038/gim.2011.72 Full Text Original Research Articles Top DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study Glenn E. Palomaki, Cosmin Deciu, Edward M. Kloza, Geralyn M. Lambert-Messerlian, James E. Haddow, Louis M. Neveux, Mathias Ehrich, Dirk van den Boom, Allan T. Bombard, Wayne W. Grody, Stanley F. Nelson and Jacob A. Canick Genet Med 2012 14: 296-305; advance online publication, February 2, 2012; 10.1038/gim.2011.73 Abstract | Full Text Molecular genetic testing for fragile X syndrome: laboratory performance on the College of American Pathologists proficiency surveys (2001–2009) Karen E. Weck, Barbara Zehnbauer, Michael Datto and Iris Schrijver ; for the CAP/ACMG Biochemical and Molecular Genetics Resource Committee Genet Med 2012 14: 306-312; advance online publication, January 5, 2012; 10.1038/gim.2011.11 Abstract | Full Text NIPBL rearrangements in Cornelia de Lange syndrome: evidence for replicative mechanism and genotype–phenotype correlation Davut Pehlivan, Melanie Hullings, Claudia M.B. Carvalho, Claudia G. Gonzaga-Jauregui, Elizabeth Loy, Laird G. Jackson, Ian D. Krantz, Matthew A. Deardorff and James R. Lupski Genet Med 2012 14: 313-322; advance online publication, January 5, 2012; 10.1038/gim.2011.13 Abstract | Full Text Prioritization of future genetics education for general practitioners: a Delphi study Elisa J.F. Houwink, Lidewij Henneman, Myrte Westerneng, Scheltus J. van Luijk, Martina C. Cornel, Jan Geert Dinant and Cees van der Vleuten Genet Med 2012 14: 323-329; advance online publication, January 5, 2012; 10.1038/gim.2011.15 Abstract | Full Text The beliefs, motivations, and expectations of parents who have enrolled their children in a genetic biorepository Erin D. Harris, Sonja I. Ziniel, Jonathan G. Amatruda, Catherine M. Clinton, Sarah K. Savage, Patrick L. Taylor, Noelle L. Huntington, Robert C. Green and Ingrid A. Holm Genet Med 2012 14: 330-337; advance online publication, January 26, 2012; 10.1038/gim.2011.25 Abstract | Full Text Familial clustering of schizophrenia, bipolar disorder, and major depressive disorder Maartje F. Aukes, Wijnand Laan, Fabian Termorshuizen, Jacobine E. Buizer-Voskamp, Eric A.M. Hennekam, Hugo M. Smeets, Roel A. Ophoff, Marco P.M. Boks and René S. Kahn Genet Med 2012 14: 338-341; advance online publication, January 5, 2012; 10.1016/gim.2011.16 Abstract | Full Text Brief Report Top Follow-up of patients with short-chain acyl-CoA dehydrogenase and isobutyryl-CoA dehydrogenase deficiencies identified through newborn screening: one center’s experience Loren Pena, Brad Angle, Barbara Burton and Joel Charrow Genet Med 2012 14: 342-347; advance online publication, January 5, 2012; 10.1038/gim.2011.9 Abstract | Full Text Letters to the Editor Top Resources available for informed prenatal decisions Mark W. Leach and Brian G. Skotko Genet Med 2012 14: 348-349; 10.1038/gim.2011.58 Full Text Medical genetics and genomics curricula focused on the laboratory specialties Ping Fang and Raye L. Alford Genet Med 2012 14: 349; 10.1038/gim.2011.61 Full Text Fragile X population carrier screening Sylvia A. Metcalfe, Alison D. Archibald and Grad Dip Genet Couns Genet Med 2012 14: 350; 10.1038/gim.2011.79 Full Text Response to Metcalfe and Archibald Wayne W. Grody Genet Med 2012 14: 351; 10.1038/gim.2012.1 Full Text ACMG College News Top ACMG College News Genet Med 2012 14: 352; 10.1038/gim.2012.25 PDF Podcast Top 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. You can change or discontinue your e-mail alerts at any time, by modifying your preferences on your nature.com account at: www.nature.com/nams/svc/myaccount (You will need to log in to be recognised as a nature.com registrant). For further technical assistance, please contact our registration department. For print subscription enquiries, please contact our subscription department. For other enquiries, please contact our customer feedback department. Nature Publishing Group | 75 Varick Street, 9th Floor | New York | NY 10013-1917 | USA Nature Publishing Group's worldwide offices: London - Paris - Munich - New Delhi - Tokyo - Melbourne San Diego - San Francisco - Washington - New York - Boston Macmillan Publishers Limited is a company incorporated in England and Wales under company number 785998 and whose registered office is located at Brunel Road, Houndmills, Basingstoke, Hampshire RG21 6XS. © 2012 Nature Publishing Group, a division of Macmillan Publishers Limited. All Rights Reserved.