Genetics in Medicine contents: Volume 19, Issue 8

TABLE OF CONTENTS Volume 19, Issue 8 (August 2017) In this issue Research Highlights ACMG Practice Resources Review Systematic Review Commentary Original Research Articles Brief Report Corrigendum Podcast Sign in for free ACMG member access Facebook Twitter Subscribe Recommend to your library RSS ACMG Research Highlights Top In This Issue Genet Med 2017 19: 843; 10.1038/gim.2017.112 Full Text News Briefs Genet Med 2017 19: 843-844; 10.1038/gim.2017.126 Full Text ACMG Practice Resources Top Diagnostic cytogenetic testing following positive noninvasive prenatal screening results: a clinical laboratory practice resource of the American College of Medical Genetics and Genomics (ACMG) Athena M Cherry, Yassmine M Akkari, Kimberly M Barr, Hutton M Kearney, Nancy C Rose, Sarah T South, James H Tepperberg and Jeanne M Meck Genet Med 2017 19: 845-850; advance online publication, July 20, 2017; 10.1038/gim.2017.91 Abstract | Full Text Review Top Carnitine palmitoyltransferase 1A P479L and infant death: policy implications of emerging data Alison E. Fohner, Nanibaa’ A. Garrison, Melissa A. Austin and Wylie Burke Genet Med 2017 19: 851-857; advance online publication, January 26, 2017; 10.1038/gim.2016.202 Abstract | Full Text Systematic Review Top The current state of implementation science in genomic medicine: opportunities for improvement Megan C. Roberts, Amy E. Kennedy, David A. Chambers and Muin J. Khoury Genet Med 2017 19: 858-863; advance online publication, January 12, 2017; 10.1038/gim.2016.210 Abstract | Full Text Commentary Top Conflicts of interest in genetic counseling: acknowledging and accepting Katie A. Stoll, Amanda Mackison, Megan A. Allyse and Marsha Michie Genet Med 2017 19: 864-866; advance online publication, January 26, 2017; 10.1038/gim.2016.216 Full Text Original Research Articles Top Prospective comparison of the cost-effectiveness of clinical whole-exome sequencing with that of usual care overwhelmingly supports early use and reimbursement Zornitza Stark, Deborah Schofield, Khurshid Alam, William Wilson, Nessie Mupfeki, Ivan Macciocca, Rupendra Shrestha, Susan M. White and Clara Gaff Genet Med 2017 19: 867-874; advance online publication, January 26, 2017; 10.1038/gim.2016.221 Abstract | Full Text Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center Thierry Vilboux, Daniel A. Doherty, Ian A. Glass, Melissa A. Parisi, Ian G. Phelps, Andrew R. Cullinane, Wadih Zein, Brian P. Brooks, Theo Heller, Ariane Soldatos, Neal L. Oden, Deniz Yildirimli, Meghana Vemulapalli, James C. Mullikin,  NISC Comparative Sequencing Program, May Christine V. Malicdan, William A. Gahl and Meral Gunay-Aygun Genet Med 2017 19: 875-882; advance online publication, January 26, 2017; 10.1038/gim.2016.204 Abstract | Full Text Recontacting participants for expanded uses of existing samples and data: a case study Stephanie C. Chen, Benjamin E. Berkman and Sara Chandros Hull Genet Med 2017 19: 883-889; advance online publication, January 26, 2017; 10.1038/gim.2016.207 Abstract | Full Text Utilization of genetic tests: analysis of gene-specific billing in Medicare claims data Julie A. Lynch, Brygida Berse, W. David Dotson, Muin J. Khoury, Nicole Coomer and John Kautter Genet Med 2017 19: 890-899; advance online publication, January 26, 2017; 10.1038/gim.2016.209 Abstract | Full Text Clinical and molecular consequences of disease-associated de novo mutations in SATB2 OPEN Hemant Bengani, Mark Handley, Mohsan Alvi, Rita Ibitoye, Melissa Lees, Sally Ann Lynch, Wayne Lam, Madeleine Fannemel, Ann Nordgren, H. Malmgren, M. Kvarnung, Sarju Mehta, Shane McKee, Margo Whiteford, Fiona Stewart, Fiona Connell, Jill Clayton-Smith, Sahar Mansour, Shehla Mohammed, Alan Fryer, Jenny Morton, UK10K Consortium, Detelina Grozeva, Tara Asam, David Moore, Alejandro Sifrim, Jeremy McRae, Matthew E. Hurles, Helen V. Firth, F. Lucy Raymond, Usha Kini, Christoffer Nellåker,  DDD study and David R. FitzPatrick Genet Med 2017 19: 900-908; advance online publication, February 2, 2017; 10.1038/gim.2016.211 Abstract | Full Text Mutation spectrum in the ABCC6 gene and genotype–phenotype correlations in a French cohort with pseudoxanthoma elasticum Anne Legrand, Laurence Cornez, Wafa Samkari, Jean-Michael Mazzella, Annabelle Venisse, Valérie Boccio, Karine Auribault, Boris Keren, Karelle Benistan, Dominique P. Germain, Michael Frank, Xavier Jeunemaitre and Juliette Albuisson Genet Med 2017 19: 909-917; advance online publication, January 19, 2017; 10.1038/gim.2016.213 Abstract | Full Text A taxonomy of medical uncertainties in clinical genome sequencing Paul K.J. Han, Kendall L. Umstead, Barbara A. Bernhardt, Robert C. Green, Steven Joffe, Barbara Koenig, Ian Krantz, Leo B. Waterston, Leslie G. Biesecker and Barbara B. Biesecker Genet Med 2017 19: 918-925; advance online publication, January 19, 2017; 10.1038/gim.2016.212 Abstract | Full Text Efficacy of early treatment in patients with cobalamin C disease identified by newborn screening: a 16-year experience Rebecca C. Ahrens-Nicklas, Ashley M. Whitaker, Paige Kaplan, Sanmati Cuddapah, Jessica Burfield, Jennifer Blair, Ligia Brochi, Marc Yudkoff and Can Ficicioglu Genet Med 2017 19: 926-935; advance online publication, February 2, 2017; 10.1038/gim.2016.214 Abstract | Full Text The next generation of population-based spinal muscular atrophy carrier screening: comprehensive pan-ethnic SMN1 copy-number and sequence variant analysis by massively parallel sequencing Yanming Feng, Xiaoyan Ge, Linyan Meng, Jennifer Scull, Jianli Li, Xia Tian, Tao Zhang, Weihong Jin, Hanyin Cheng, Xia Wang, Mari Tokita, Pengfei Liu, Hui Mei, Yue Wang, Fangyuan Li, Eric S. Schmitt, Wei V. Zhang, Donna Muzny, Shu Wen, Zhao Chen, Yaping Yang, Arthur L. Beaudet, Xiaoming Liu, Christine M. Eng, Fan Xia, Lee-Jun Wong and Jinglan Zhang Genet Med 2017 19: 936-944; advance online publication, January 26, 2017; 10.1038/gim.2016.215 Abstract | Full Text GUCA1A mutation causes maculopathy in a five-generation family with a wide spectrum of severity OPEN Xue Chen, Xunlun Sheng, Wenjuan Zhuang, Xiantao Sun, Guohua Liu, Xun Shi, Guofu Huang, Yan Mei, Yingjie Li, Xinyuan Pan, Yani Liu, Zili Li, Qingshun Zhao, Biao Yan and Chen Zhao Genet Med 2017 19: 945-954; advance online publication, January 26, 2017; 10.1038/gim.2016.217 Abstract | Full Text Brief Report Top Frequent inactivating germline mutations in DNA repair genes in patients with Ewing sarcoma Andrew S. Brohl, Rajesh Patidar, Clesson E. Turner, Xinyu Wen, Young K. Song, Jun S. Wei, Kathleen A. Calzone and Javed Khan Genet Med 2017 19: 955-958; advance online publication, January 26, 2017; 10.1038/gim.2016.206 Abstract | Full Text Motivations of participants in the citizen science of microbiomics: data from the British Gut Project Lorenzo Del Savio, Barbara Prainsack and Alena Buyx Genet Med 2017 19: 959-961; advance online publication, January 26, 2017; 10.1038/gim.2016.208 Abstract | Full Text Corrigendum Top CORRIGENDUM: The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype–phenotype correlations Chun-An Chen, Daniëlle G M Bosch, Megan T Cho ScM, Jill A Rosenfeld, Marwan Shinawi, Richard Alan Lewis, John Mann, Parul Jayakar, Katelyn Payne, Laurence Walsh, Timothy Moss, Allison Schreiber, Cheri Schoonveld, Kristin G Monaghan, Frances Elmslie, Ganka Douglas, F Nienke Boonstra, Francisca Millan, Frans P M Cremers, Dianalee McKnight, Gabriele Richard, Jane Juusola, Fran Kendall, Keri Ramsey, Kwame Anyane-Yeboa, Elfrida Malkin, Wendy K Chung, Dmitriy Niyazov, Juan M Pascual, Magdalena Walkiewicz, Vivekanand Veluchamy, Chumei Li, Fuki M Hisama, Bert B A de Vries and Christian Schaaf Genet Med 2017 19: 962; 10.1038/gim.2017.12 Full Text Podcast Top Podcast FREE Podcast You have been sent this Table of Contents Alert because you have opted in to receive it. 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