Genetics in Medicine contents: Volume 20, Issue 10

Advertisement SPOTLIGHT ON KANAZAWA An alternative Japan experience - Meet the sides of Japanese cities that most international researchers never see  TABLE OF CONTENTS Volume 20, Issue 10 In this issue In this Issue News ACMG Practice Resources Review Article Systematic Review Comment Article Correspondence Correction Podcast Also new AOP Sign in for free ACMG member access Advertisement Focal Point on Kobe  A seismic shift - How Kobe rebuilt itself after a devastating earthquake and turned into a biotechnology hub In this Issue In this issue Karyn Hede Genetics in Medicine 2018 20 :1103 - 1103; October 26, 2018; 10.1038/s41436-018-0332-x Abstract | Full Text News News Karyn Hede Genetics in Medicine 2018 20 :1104 - 1104; October 26, 2018; 10.1038/s41436-018-0333-9 Abstract | Full Text ACMG Practice Resources Yield of additional genetic testing after chromosomal microarray for diagnosis of neurodevelopmental disability and congenital anomalies: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG) Darrel Waggoner, Karen E. Wain, Adrian M. Dubuc, Laura Conlin, Scott E. Hickey et al. Genetics in Medicine 2018 20 :1105 - 1113; June 18, 2018; 10.1038/s41436-018-0040-6 Abstract | Full Text Review Article Medical genetics in developing countries in the Asia-Pacific region: challenges and opportunities Meow-Keong Thong, Yiling See-Toh, Jamiyah Hassan & Jaffar Ali Genetics in Medicine 2018 20 :1114 - 1121; August 10, 2018; 10.1038/s41436-018-0135-0 Abstract | Full Text Systematic Review Are whole-exome and whole-genome sequencing approaches cost-effective? A systematic review of the literature Katharina Schwarze, James Buchanan, Jenny C Taylor & Sarah Wordsworth Genetics in Medicine 2018 20 :1122 - 1130; February 15, 2018; 10.1038/gim.2017.247 Abstract | Full Text Which Lynch syndrome screening programs could be implemented in the "real world"? A systematic review of economic evaluations Marco Di Marco, Elvira DAndrea, Nikola Panic, Valentina Baccolini, Giuseppe Migliara et al. Genetics in Medicine 2018 20 :1131 - 1144; January 04, 2018; 10.1038/gim.2017.244 Abstract | Full Text Cost-effectiveness and comparative effectiveness of cancer risk management strategies in BRCA1/2 mutation carriers: a systematic review Lara Petelin, Alison H Trainer, Gillian Mitchell, Danny Liew & Paul A James Genetics in Medicine 2018 20 :1145 - 1156; January 11, 2018; 10.1038/gim.2017.255 Abstract | Full Text Comment Making pretest genomic counseling optional: lessons from the RAVE study Erica J Sutton, Iftikhar J Kullo & Richard R Sharp Genetics in Medicine 2018 20 :1157 - 1158; February 01, 2018; 10.1038/gim.2017.240 Abstract | Full Text Article The contribution of family history to the burden of diagnosed diabetes, undiagnosed diabetes, and prediabetes in the United States: analysis of the National Health and Nutrition Examination Survey, 2009–2014 Ramal Moonesinghe, Gloria L A Beckles, Tiebin Liu & Muin J Khoury Genetics in Medicine 2018 20 :1159 - 1166; January 25, 2018; 10.1038/gim.2017.238 Abstract | Full Text MSH6 and PMS2 germ-line pathogenic variants implicated in Lynch syndrome are associated with breast cancer Maegan E Roberts, Sarah A Jackson, Lisa R Susswein, Nur Zeinomar, Xinran Ma et al. Genetics in Medicine 2018 20 :1167 - 1174; January 18, 2018; 10.1038/gim.2017.254 Abstract | Full Text Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants Jennifer J Johnston, Jasper J van der Smagt, Jill A Rosenfeld, Alistair T Pagnamenta, Abdulrahman Alswaid et al. Genetics in Medicine 2018 20 :1175 - 1185; February 22, 2018; 10.1038/gim.2017.249 Abstract | Full Text Anticipated responses of early adopter genetic specialists and nongenetic specialists to unsolicited genomic secondary findings Kurt D Christensen, Barbara A Bernhardt, Gail P Jarvik, Lucia A Hindorff, Jeffrey Ou et al. Genetics in Medicine 2018 20 :1186 - 1195; February 01, 2018; 10.1038/gim.2017.243 Abstract | Full Text Clinical whole-genome sequencing from routine formalin-fixed, paraffin-embedded specimens: pilot study for the 100,000 Genomes Project Pauline Robbe, Niko Popitsch, Samantha J L Knight, Pavlos Antoniou, Jennifer Becq et al. Genetics in Medicine 2018 20 :1196 - 1205; February 01, 2018; 10.1038/gim.2017.241 Abstract | Full Text Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACTA2 arginine 179 alterations Ellen S Regalado, Lauren Mellor-Crummey, Julie De Backer, Alan C Braverman, Lesley Ades et al. Genetics in Medicine 2018 20 :1206 - 1215; January 04, 2018; 10.1038/gim.2017.245 Abstract | Full Text Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders Caroline F Wright, Jeremy F McRae, Stephen Clayton, Giuseppe Gallone, Stuart Aitken et al. Genetics in Medicine 2018 20 :1216 - 1223; January 11, 2018; 10.1038/gim.2017.246 Abstract | Full Text Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy–like disease Veronika Boczonadi, Martin S King, Anthony C Smith, Monika Olahova, Boglarka Bansagi et al. Genetics in Medicine 2018 20 :1224 - 1235; March 08, 2018; 10.1038/gim.2017.251 Abstract | Full Text Arterial tortuosity syndrome: 40 new families and literature review Aude Beyens, Juliette Albuisson, Annekatrien Boel, Mazen Al-Essa, Waheed Al-Manea et al. Genetics in Medicine 2018 20 :1236 - 1245; January 11, 2018; 10.1038/gim.2017.253 Abstract | Full Text CardioClassifier: disease- and gene-specific computational decision support for clinical genome interpretation Nicola Whiffin, Roddy Walsh, Risha Govind, Matthew Edwards, Mian Ahmad et al. Genetics in Medicine 2018 20 :1246 - 1254; January 25, 2018; 10.1038/gim.2017.258 Abstract | Full Text SCYL1 variants cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN) Dominic Lenz, Patricia McClean, Aydan Kansu, Penelope E Bonnen, Giusy Ranucci et al. Genetics in Medicine 2018 20 :1255 - 1265; February 08, 2018; 10.1038/gim.2017.260 Abstract | Full Text Genotype and phenotype correlation in von Hippel–Lindau disease based on alteration of the HIF-α binding site in VHL protein Sheng-Jie Liu, Jiang-Yi Wang, Shuang-He Peng, Teng Li, Xiang-Hui Ning et al. Genetics in Medicine 2018 20 :1266 - 1273; March 29, 2018; 10.1038/gim.2017.261 Abstract | Full Text A metabolomic map of Zellweger spectrum disorders reveals novel disease biomarkers Michael F Wangler, Leroy Hubert, Taraka R Donti, Meredith J Ventura, Marcus J Miller et al. Genetics in Medicine 2018 20 :1274 - 1283; February 08, 2018; 10.1038/gim.2017.262 Abstract | Full Text Efficacy, safety profile, and immunogenicity of alglucosidase alfa produced at the 4,000-liter scale in US children and adolescents with Pompe disease: ADVANCE, a phase IV, open-label, prospective study Si Houn Hahn, David Kronn, Nancy D Leslie, Loren D M Pena, Pranoot Tanpaiboon et al. Genetics in Medicine 2018 20 :1284 - 1294; March 22, 2018; 10.1038/gim.2018.2 Abstract | Full Text Correspondence Response to Walker Nicholas J Wald, Wayne J Huttly, Jonathan P Bestwick, Robert Old, Joan K Morris et al. Genetics in Medicine 2018 20 :1295 - 1295; March 01, 2018; 10.1038/gim.2017.256 Abstract | Full Text Response to Wald et al Clare-Louise Walker Genetics in Medicine 2018 20 :1296 - 1297; January 11, 2018; 10.1038/gim.2017.252 Abstract | Full Text Correction Correction: Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data Kristin McDonald Gibson, Addie Nesbitt, Kajia Cao, Zhenming Yu, Elizabeth Denenberg et al. Genetics in Medicine 2018 20 :1298 - 1298; January 11, 2018; 10.1038/gim.2017.264 Abstract | Full Text Correction: Risk of colorectal cancer for carriers of a germ-line mutation in POLE or POLD1 Daniel D Buchanan, Jenna R Stewart, Mark Clendenning, Christophe Rosty, Khalid Mahmood et al. Genetics in Medicine 2018 20 :1299 - 1299; February 01, 2018; 10.1038/gim.2017.265 Abstract | Full Text Podcast Podcast FREE Podcast Advertisement Nature Briefing is an essential round-up of science news, opinion and analysis, free in your inbox every weekday. With Nature Briefing, we'll keep you updated on the latest research, so you can focus on yours. Click here to sign up. Natureevents is a fully searchable, multi-disciplinary database designed to maximise exposure for events organisers. The contents of the Natureevents Directory are now live. The digital version is available here. Find the latest scientific conferences, courses, meetings and symposia on natureevents.com. For event advertising opportunities across the Nature Publishing Group portfolio please contact natureevents@nature.com More Nature Events Please note that you need to be a subscriber or site-licence holder to enjoy full-text access to Genetics in Medicine. In order to do so, please purchase a subscription. 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