Genetics in Medicine contents: Volume 15, Issue 7

TABLE OF CONTENTS Volume 15, Issue 7 (July 2013) In this issue Research Highlights Systematic Review Review Commentaries EGAPP Recommendation Statement Original Research Articles ACMG Policy Statement ACMG Standards and Guidelines Erratum Research Highlights Top In This Issue Genet Med 2013 15: 495-496; 10.1038/gim.2013.91 Full Text News Briefs Genet Med 2013 15: 495-496; 10.1038/gim.2013.93 Full Text Systematic Review Top Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype Miguel López de Heredia, Ramón Clèries and Virginia Nunes Genet Med 2013 15: 497-506; advance online publication, February 21, 2013; 10.1038/gim.2012.180 Abstract | Full Text Review Top Beyond the genomics blueprint: the 4th Human Variome Project Meeting, UNESCO, Paris, 2012 Maija R.J. Kohonen-Corish, Timothy D. Smith and Helen M. Robinson ; on behalf of the delegates of the 4th Biennial Meeting of the Human Variome Project Consortium Genet Med 2013 15: 507-512; advance online publication, January 17, 2013; 10.1038/gim.2012.174 Abstract | Full Text Commentaries Top Primary-care physicians’ access to genetic specialists: an impediment to the routine use of genomic medicine? Susanne B. Haga, Wylie Burke and Robert Agans Genet Med 2013 15: 513-514; advance online publication, January 10, 2013; 10.1038/gim.2012.168 Full Text When is a medical finding “incidental”? James P. Evans Genet Med 2013 15: 515-516; advance online publication, May 30, 2013; 10.1038/gim.2013.74 Full Text EGAPP Recommendation Statement Top Recommendations from the EGAPP Working Group: can testing of tumor tissue for mutations in EGFR pathway downstream effector genes in patients with metastatic colorectal cancer improve health outcomes by guiding decisions regarding anti-EGFR therapy? Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Working Group Genet Med 2013 15: 517-527; advance online publication, February 21, 2013; 10.1038/gim.2012.184 Abstract | Full Text Original Research Articles Top A clinical appraisal of different Z-score equations for aortic root assessment in the diagnostic evaluation of Marfan syndrome Roland R.J. van Kimmenade, Marlies Kempers, Menko-Jan de Boer, Bart L. Loeys and Janneke Timmermans Genet Med 2013 15: 528-532; advance online publication, January 10, 2013; 10.1038/gim.2012.172 Abstract | Full Text Cascade carrier testing after a child is diagnosed with cystic fibrosis through newborn screening: investigating why most relatives do not have testing Belinda J. McClaren, MaryAnne Aitken, John Massie, David Amor, Obioha C. Ukoumunne and Sylvia A. Metcalfe Genet Med 2013 15: 533-540; advance online publication, January 24, 2013; 10.1038/gim.2012.175 Abstract | Full Text Creation of a national resource with linked genealogy and phenotypic data: the Veterans Genealogy Project Lisa A. Cannon-Albright, Sue Dintelman, Tim Maness, Steve Backus, Alun Thomas and Laurence J. Meyer Genet Med 2013 15: 541-547; advance online publication, January 17, 2013; 10.1038/gim.2012.171 Abstract | Full Text Cognitive characteristics of PTEN hamartoma tumor syndromes Robyn M. Busch, Jessica S. Chapin, Jessica Mester, Lisa Ferguson, Jennifer S. Haut, Thomas W. Frazier and Charis Eng Genet Med 2013 15: 548-553; advance online publication, March 7, 2013; 10.1038/gim.2013.1 Abstract | Full Text Assessing genotype–phenotype correlation in Costello syndrome using a severity score Elizabeth M. McCormick, Elizabeth Hopkins, Laura Conway, Sarah Catalano, Jobayer Hossain, Katia Sol-Church, Deborah L. Stabley and Karen W. Gripp Genet Med 2013 15: 554-557; advance online publication, February 21, 2013; 10.1038/gim.2013.6 Abstract | Full Text Attitudes of Canadian researchers toward the return to participants of incidental and targeted genomic findings obtained in a pediatric research setting Open Conrad V. Fernandez, Caron Strahlendorf, Denise Avard, Bartha M. Knoppers, Colleen O’Connell, Eric Bouffet, David Malkin, Nada Jabado, Kym Boycott and Poul H. Sorensen Genet Med 2013 15: 558-564; advance online publication, January 31, 2013; 10.1038/gim.2012.183 Abstract | Full Text ACMG Policy Statement Top ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing Robert C. Green, Jonathan S. Berg, Wayne W. Grody, Sarah S. Kalia, Bruce R. Korf, Christa L. Martin, Amy L. McGuire, Robert L. Nussbaum, Julianne M. O’Daniel, Kelly E. Ormond, Heidi L. Rehm, Michael S. Watson, Marc S. Williams and Leslie G. Biesecker Genet Med 2013 15: 565-574; advance online publication, June 20, 2013; 10.1038/gim.2013.73 Abstract | Full Text ACMG Standards and Guidelines Top ACMG Standards and Guidelines for fragile X testing: a revision to the disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics and Genomics Kristin G. Monaghan, Elaine Lyon and Elaine B. Spector Genet Med 2013 15: 575-586; advance online publication, June 13, 2013; 10.1038/gim.2013.61 Abstract | Full Text Erratum Top ERRATUM: Novel candidate genes and regions for childhood apraxia of speech identified by array comparative genomic hybridization Genet Med 2013 15: 587-588; 10.1038/gim.2013.85 Full Text Podcast Top Podcast Please note that you need to be a subscriber or site-license holder to enjoy full-text access to Clinical Pharmacology & Therapeutics. 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