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vrijdag 4 augustus 2017

Genetics in Medicine contents: Volume 19, Issue 8

Genetics in Medicine

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


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Research Highlights

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In This Issue

Genet Med 2017 19: 843; 10.1038/gim.2017.112

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News Briefs

Genet Med 2017 19: 843-844; 10.1038/gim.2017.126

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ACMG Practice Resources

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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

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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

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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

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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

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Original Research Articles

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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Podcast

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Podcast

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