We bring you the latest news from the healthcare about the health care in the United Kingdom.

woensdag 31 oktober 2018

Genetics in Medicine contents: Volume 20, Issue 10

Genetics in Medicine

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.
nature events
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.

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.

This email has been sent to dezorgsector.uk@gmail.com.

If you no longer wish to receive the email alerts from Genetics in Medicine click here to unsubscribe .
If you wish to discontinue all email services from Nature Research please click here to unsubscribe .

For further technical assistance, please contact our registration department.

For print subscription enquiries, please contact our subscription department.

For other enquiries, please contact our customer feedback department.

Macmillan Publishers Limited is a company incorporated in England & Wales under company number 785998 & whose registered office is located at The Campus, 4 Crinan Street, London, N1 9XW. Nature Research | One New York Plaza, Suite 4500 | New York | NY 10004-1562 | USA

Nature is part of Springer Nature. © 2018 Springer Nature Limited. All rights reserved.

Springer Nature