Genetics in Medicine contents: Volume 17, Issue 9

TABLE OF CONTENTS Volume 17, Issue 9 (September 2015) In this issue Research Highlights ACMG Policy Statement Systematic Review Commentary Original Research Article Brief Report Letter to the Editor Podcast   COMPLETE SUCCESS BEGINS WITH NGS SAMPLE QC The new Agilent 4200 TapeStation system is a complete solution for true end-to-end sample QC within any NGS workflow covering the full DNA and RNA sizing range.  •  Automated sample processing •  Full range of sizing applications for DNA and RNA •  Flexible sampling from 1 to 96 samples, and •  Fast, reliable results with ready-to-use ScreenTape. Learn more. Facebook Twitter Subscribe Recommend to your library RSS ACMG Advertisement Genetics in Medicine Cardiology Web Focus: UPDATED! 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.   Research Highlights Top In this Issue Genet Med 2015 17: 687; 10.1038/gim.2015.120 Full Text News Briefs Genet Med 2015 17: 687-688; 10.1038/gim.2015.128 Full Text ACMG Policy Statement Top Scope of practice: a statement of the American College of Medical Genetics and Genomics (ACMG) ACMG Board of Directors1 Genet Med 2015 17: e3; advance online publication, July 23, 2015; 10.1038/gim.2015.94 Abstract | Full Text Systematic Review Top Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society Sumit Parikh, Amy Goldstein, Mary Kay Koenig, Fernando Scaglia, Gregory M. Enns, Russell Saneto, Irina Anselm, Bruce H. Cohen, Marni J. Falk, Carol Greene, Andrea L. Gropman, Richard Haas, Michio Hirano, Phil Morgan, Katherine Sims, Mark Tarnopolsky, Johan L.K. Van Hove, Lynne Wolfe and Salvatore DiMauro Genet Med 2015 17: 689-701; advance online publication, December 11, 2014; 10.1038/gim.2014.177 Abstract | Full Text Family history and the natural history of colorectal cancer: systematic review Nora B. Henrikson, Elizabeth M. Webber, Katrina A. Goddard, Aaron Scrol, Margaret Piper, Marc S. Williams, Doris T. Zallen, Ned Calonge, Theodore G. Ganiats, A. Cecile J.W. Janssens, Ann Zauber, Iris Lansdorp-Vogelaar, Marjolein van Ballegooijen and Evelyn P. Whitlock Genet Med 2015 17: 702-712; advance online publication, January 15, 2015; 10.1038/gim.2014.188 Abstract | Full Text Commentary Top American College of Medical Genetics and Genomics: revised scope of practice and strategic plan Gerald Feldman Genet Med 2015 17: 713; advance online publication, July 23, 2015; 10.1038/gim.2015.97 Full Text Original Research Articles Top SG-ADVISER CNV: copy-number variant annotation and interpretation Galina A. Erikson, Neha Deshpande, Balachandar G. Kesavan and Ali Torkamani Genet Med 2015 17: 714-718; advance online publication, December 18, 2014; 10.1038/gim.2014.180 Abstract | Full Text The clinical utility of molecular karyotyping for neurocognitive phenotypes in a consanguineous population Sarah M. Al-Qattan, Salma M. Wakil, Shamsa Anazi, Anas M. Alazami, Nisha Patel, Ranad Shaheen, Hanan E. Shamseldin, Samya T. Hagos, Haya M. AlDossari, Mustafa A. Salih, Heba Y. El Khashab, Amal Y. Kentab, Mohammed N. AlNasser, Fahad A. Bashiri, Namik Kaya, Mais O. Hashem and Fowzan S. Alkuraya Genet Med 2015 17: 719-725; advance online publication, December 11, 2014; 10.1038/gim.2014.184 Abstract | Full Text Challenges in managing genetic cancer risk: a long-term qualitative study of unaffected women carrying BRCA1/BRCA2 mutations Maria Caiata-Zufferey, Olivia Pagani, Viviane Cina, Véronique Membrez, Monica Taborelli, Sheila Unger, Anne Murphy, Christian Monnerat and Pierre O. Chappuis Genet Med 2015 17: 726-732; advance online publication, December 11, 2014; 10.1038/gim.2014.183 Abstract | Full Text Guidance for pharmacogenomic biomarker testing in labels of FDA-approved drugs Alexandre Vivot, Isabelle Boutron, Philippe Ravaud and Raphaël Porcher Genet Med 2015 17: 733-738; advance online publication, December 18, 2014; 10.1038/gim.2014.181 Abstract | Full Text A preliminary investigation of genetic counselors’ information needs when receiving a variant of uncertain significance result: a mixed methods study Courtney L. Scherr, Noralane M. Lindor, Teri L. Malo, Fergus J. Couch and Susan T. Vadaparampil Genet Med 2015 17: 739-746; advance online publication, January 8, 2015; 10.1038/gim.2014.185 Abstract | Full Text Brief Report Top A high-resolution copy-number variation resource for clinical and population genetics OPEN Mohammed Uddin, Bhooma Thiruvahindrapuram, Susan Walker, Zhuozhi Wang, Pingzhao Hu, Sylvia Lamoureux, John Wei, Jeffrey R. MacDonald, Giovanna Pellecchia, Chao Lu, Anath C. Lionel, Matthew J. Gazzellone, John R. McLaughlin, Catherine Brown, Irene L. Andrulis, Julia A. Knight, Jo-Anne Herbrick, Richard F. Wintle, Peter Ray, Dimitri J. Stavropoulos, Christian R. Marshall and Stephen W. Scherer Genet Med 2015 17: 747-752; advance online publication, December 11, 2014; 10.1038/gim.2014.178 Abstract | Full Text Preliminary validation of a consumer-oriented colorectal cancer risk assessment tool compatible with the US Surgeon General’s My Family Health Portrait W. Gregory Feero, Flavia M. Facio, Emily A. Glogowski, Heather L. Hampel, Jill E. Stopfer, Haley Eidem, Amy M. Pizzino, David K. Barton and Leslie G. Biesecker Genet Med 2015 17: 753-756; advance online publication, December 18, 2014; 10.1038/gim.2014.179 Abstract | Full Text Genetics educational needs in China: physicians’ experience and knowledge of genetic testing Jing Li, Tengda Xu and Beverly M. Yashar Genet Med 2015 17: 757-760; advance online publication, December 11, 2014; 10.1038/gim.2014.182 Abstract | Full Text Letter to the Editor Top Molecular diagnostic testing Robert A. Saul Genet Med 2015 17: 761; 10.1038/gim.2015.115 Full Text Response to Saul Yuan Xue, Arunkanth Ankala, William R. Wilcox and Madhuri R. Hegde Genet Med 2015 17: 761; 10.1038/gim.2015.114 Full Text Podcast Top Listen to the latest podcast here. 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