Genetics in Medicine contents: Volume 17, Issue 3

TABLE OF CONTENTS Volume 17, Issue 3 (March 2015) In this issue Research Highlights Systematic Review Original Research Articles Brief Reports Erratum Addendum Advertisement Attending the ACMG Meeting in Salt Lake City? Visit Genetics in Medicine at the Nature Publishing Group booth 522 to:  Take part in our prize draw Browse and take free sample copies of leading journals from NPG, including Genetics in Medicine     RESEARCH HIGHLIGHTS In this Issue Genet Med 2015 17: 167; 10.1038/gim.2015.4 Full Text News Briefs Genet Med 2015 17: 167-168; 10.1038/gim.2015.17 Full Text SYSTEMATIC REVIEW Primary-care providers’ perceived barriers to integration of genetics services: a systematic review of the literature Natalie A. Mikat-Stevens, Ingrid A. Larson and Beth A. Tarini Genet Med 2015 17: 169-176; advance online publication, September 11, 2014; 10.1038/gim.2014.101 Abstract | Full Text ORIGINAL RESEARCH ARTICLES Increased frequency of FBN1 truncating and splicing variants in Marfan syndrome patients with aortic events Linnea M. Baudhuin, Katrina E. Kotzer and Susan A. Lagerstedt Genet Med 2015 17: 177-187; advance online publication, August 7, 2014; 10.1038/gim.2014.91 Abstract | Full Text Exceptional aggressiveness of cerebral cavernous malformation disease associated with PDCD10 mutations Robert Shenkar, Changbin Shi, Tania Rebeiz, Rebecca A. Stockton, David A. McDonald, Abdul Ghani Mikati, Lingjiao Zhang, Cecilia Austin, Amy L. Akers, Carol J. Gallione, Autumn Rorrer, Murat Gunel, Wang Min, Jorge Marcondes de Souza, Connie Lee, Douglas A. Marchuk and Issam A. Awad Genet Med 2015 17: 188-196; advance online publication, August 14, 2014; 10.1038/gim.2014.97 Abstract | Full Text The impact of reporting incidental findings from exome and whole-genome sequencing: predicted frequencies based on modeling OPEN Lucy-Enid Ding, Leslie Burnett and Douglas Chesher Genet Med 2015 17: 197-204; advance online publication, July 31, 2014; 10.1038/gim.2014.94 Abstract | Full Text Outcomes of individuals with profound and partial biotinidase deficiency ascertained by newborn screening in Michigan over 25 years Allison M. Jay, Robert L. Conway, Gerald L. Feldman, Fatimah Nahhas, Linda Spencer and Barry Wolf Genet Med 2015 17: 205-209; advance online publication, August 21, 2014; 10.1038/gim.2014.104 Abstract | Full Text Identification of OSBPL2 as a novel candidate gene for progressive nonsyndromic hearing loss by whole-exome sequencing Guangqian Xing, Jun Yao, Bin Wu, Tingting Liu, Qinjun Wei, Cheng Liu, Yajie Lu, Zhibin Chen, Heng Zheng, Xiaonan Yang and Xin Cao Genet Med 2015 17: 210-218; advance online publication, July 31, 2014; 10.1038/gim.2014.90 Abstract | Full Text Molecular genetic testing for cystic fibrosis: laboratory performance on the College of American Pathologists external proficiency surveys Elaine Lyon, Iris Schrijver, Karen E. Weck, Andrea Ferreira-Gonzalez, C. Sue Richards and Glenn E. Palomaki ; on behalf of the CAP/ACMG Biochemical and Molecular Genetics Committee Genet Med 2015 17: 219-225; advance online publication, July 31, 2014; 10.1038/gim.2014.93 Abstract | Full Text Informed consent for biobanking: consensus-based guidelines for adequate comprehension Laura M. Beskow, Carrie B. Dombeck, Cole P. Thompson, J. Kemp Watson-Ormond and Kevin P. Weinfurt Genet Med 2015 17: 226-233; advance online publication, August 21, 2014; 10.1038/gim.2014.102 Abstract | Full Text BRIEF REPORTS Discordant noninvasive prenatal testing and cytogenetic results: a study of 109 consecutive cases Jia-Chi Wang, Trilochan Sahoo, Steven Schonberg, Kimberly A. Kopita, Leslie Ross, Kyla Patek and Charles M. Strom Genet Med 2015 17: 234-236; advance online publication, August 7, 2014; 10.1038/gim.2014.92 Abstract | Full Text Adverse events in cancer patients with sickle cell trait or disease: case reports Helen Swede, Biree Andemariam, David I. Gregorio, Beth A. Jones, Dejana Braithwaite, Thomas E. Rohan and Richard G. Stevens Genet Med 2015 17: 237-241; advance online publication, August 21, 2014; 10.1038/gim.2014.105 Abstract | Full Text ERRATUM ERRATUM: In This Issue Genet Med 2015 17: 242; 10.1038/gim.2015.1 Full Text ADDENDUM ADDENDUM: Reviewer Acknowledgment 2014 Genet Med 2015 17: 242; 10.1038/gim.2015.2 Full Text PODCAST Listen to the latest podcast here. Advertisement Genetics in Medicine Neurology focus - updated with new content.  Neurology has long been at the forefront of the application of genetic testing, with numerous neurologic disorders understood at a genetic level. Genomic analysis now offers the clinical neurologist (and patients) more than ever before, with complex sequencing panels playing an increasingly vital role. Read the focus.