Genetics in Medicine contents: Volume 14, Issue 6

TABLE OF CONTENTS Volume 14, Issue 6 (June 2012) In this issue Research Highlights Genetest Review Original Research Article Brief Report Education Report Letters to the Editor ACMG College News Erratum Podcast 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 Nature Genetics and the Wellcome Trust present: The Genomics of Common Diseases 2012 September 19-22, 2012 - Potomac, MD, USA For more information and to register, visit: http://www.nature.com/natureconferences/gcd2012 Abstract submission deadline- June 28, 2012   Research Highlights Top In This Issue Genet Med 2012 14: 563; 10.1038/gim.2012.55 Full Text News Briefs Genet Med 2012 14: 563-564; 10.1038/gim.2012.60 Full Text Genetest Review Top Biotinidase deficiency: “if you have to have an inherited metabolic disease, this is the one to have” Barry Wolf Genet Med 2012 14: 565-575; advance online publication, January 5, 2012; 10.1038/gim.2011.6 Abstract | Full Text Original Research Articles Top Massively parallel sequencing for early molecular diagnosis in Leber congenital amaurosis Frauke Coppieters, Bram De Wilde, Steve Lefever, Ellen De Meester, Nina De Rocker, Caroline Van Cauwenbergh, Filip Pattyn, Françoise Meire, Bart P. Leroy, Jan Hellemans, Jo Vandesompele and Elfride De Baere Genet Med 2012 14: 576-585; advance online publication, January 26, 2012; 10.1038/gim.2011.51 Abstract | Full Text Tilting at windmills no longer: a data-driven discussion of DTC DNA ancestry tests Jennifer K. Wagner, Jill D. Cooper, Rene Sterling and Charmaine D. Royal Genet Med 2012 14: 586-593; advance online publication, March 1, 2012; 10.1038/gim.2011.77 Abstract | Full Text Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders Swaroop Aradhya, Rachel Lewis, Tahrra Bonaga, Nnenna Nwokekeh, Amanda Stafford, Barbara Boggs, Kathleen Hruska, Nizar Smaoui, John G. Compton, Gabriele Richard and Sharon Suchy Genet Med 2012 14: 594-603; advance online publication, March 1, 2012; 10.1038/gim.2011.65 Abstract | Full Text Cost savings through molecular diagnosis for hereditary hemorrhagic telangiectasia Barbara A. Bernhardt, Cara Zayac, Scott O. Trerotola, David A. Asch and Reed E. Pyeritz Genet Med 2012 14: 604-610; advance online publication, January 26, 2012; 10.1038/gim.2011.56 Abstract | Full Text Incidental findings of therapeutic misconception in biobank-based research Colin M.E. Halverson and Lainie Friedman Ross Genet Med 2012 14: 611-615; advance online publication, January 26, 2012; 10.1038/gim.2011.50 Abstract | Full Text Brief Report Top Elevated plasma succinate in PTEN, SDHB, and SDHD mutation–positive individuals Judith A. Hobert, Jessica L. Mester, Jessica Moline and Charis Eng Genet Med 2012 14: 616-619; advance online publication, January 26, 2012; 10.1038/gim.2011.63 Abstract | Full Text Education Report Top An integrated approach for classifying mitochondrial DNA variants: one clinical diagnostic laboratory’s experience Jing Wang, Eric S. Schmitt, Megan L. Landsverk, Victor Wei Zhang, Fang-Yuan Li, Brett H. Graham, William J. Craigen and Lee-Jun C. Wong Genet Med 2012 14: 620-626; advance online publication, March 8, 2012; 10.1038/gim.2012.4 Abstract | Full Text Letters to the Editor Top Hydrogen sulfide: in the aftermath of argininosuccinate lyase and nitric oxide deficiency Balasubramanian Srilatha, Jun Meng and P. Ganesan Adaikan Genet Med 2012 14: 627; 10.1038/gim.2012.48 Full Text Response to Srilatha et al. Sandesh C.S. Nagamani, Ayelet Erez and Brendan Lee Genet Med 2012 14: 628; 10.1038/gim.2012.49 Full Text ACMG College News Top ACMG College News Genet Med 2012 14: 629; 10.1038/gim.2012.56 PDF Erratum Top ERRATUM: The past, present, and future of the debate over return of research results and incidental findings Genet Med 2012 14: 630; 10.1038/gim.2012.53 Full Text Podcast Top Podcast   Advertisement 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!     Please note that you need to be a subscriber or site-license holder to enjoy full-text access to Genetics in Medicine. 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