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

dinsdag 25 september 2018

Genetics in Medicine contents: Volume 20, Issue 9

Genetics in Medicine
 
TABLE OF CONTENTS

Volume 20, Issue 9

In this issue
ACMG Practice Resources
Invited Review
Review Article
Article
Special Article
Article
Brief Communication
Correspondence
Correction
Podcast
Also new
AOP
 
Sign in for free ACMG member access

ACMG Practice Resources

Genetic evaluation of cardiomyopathy: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)

Ray E. Hershberger, Michael M. Givertz, Carolyn Y Ho, Daniel P. Judge, Paul F. Kantor et al.

Genetics in Medicine 2018 20 :899 - 909; June 14, 2018; 10.1038/s41436-018-0039-z

 

Abstract | Full Text

Invited Review

Cherchez la femme: maternal incidental findings can explain discordant prenatal cell-free DNA sequencing results

Diana W Bianchi

Genetics in Medicine 2017 20 :910 - 917; December 07, 2017; 10.1038/gim.2017.219

 

Abstract | Full Text

Review Article

Navigating the nuances of clinical sequence variant interpretation in Mendelian disease

Natasha T. Strande, Sarah E. Brnich, Tamara S. Roman & Jonathan S. Berg

Genetics in Medicine 2018 20 :918 - 926; July 10, 2018; 10.1038/s41436-018-0100-y

 

Abstract | Full Text

Article

The role of SMAD3 in the genetic predisposition to papillary thyroid carcinoma

Yanqiang Wang, Huiling He, Sandya Liyanarachchi, Luke K Genutis, Wei Li et al.

Genetics in Medicine 2018 20 :927 - 935; January 04, 2018; 10.1038/gim.2017.224

 

Abstract | Full Text

Special Article

A literature review at genome scale: improving clinical variant assessment

Christopher A Cassa, Daniel M Jordan, Ivan Adzhubei & Shamil Sunyaev

Genetics in Medicine 2018 20 :936 - 941; February 01, 2018; 10.1038/gim.2017.230

 

Abstract | Full Text

Article

Clinical validity of phenotype-driven analysis software PhenoVar as a diagnostic aid for clinical geneticists in the interpretation of whole-exome sequencing data

Fanny Thuriot, Caroline Buote, Elaine Gravel, Sébastien Chénier, Valérie Désilets et al.

Genetics in Medicine 2018 20 :942 - 949; February 01, 2018; 10.1038/gim.2017.239

 

Abstract | Full Text

Representing a “revolution”: how the popular press has portrayed personalized medicine

Alessandro R Marcon, Mark Bieber & Timothy Caulfield

Genetics in Medicine 2018 20 :950 - 956; January 04, 2018; 10.1038/gim.2017.217

 

Abstract | Full Text

CGG repeat length and AGG interruptions as indicators of fragile X–associated diminished ovarian reserve

Jovana Lekovich, Limor Man, Kangpu Xu, Chelsea Canon, Debra Lilienthal et al.

Genetics in Medicine 2017 20 :957 - 964; December 21, 2017; 10.1038/gim.2017.220

 

Abstract | Full Text

Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care

Ivan Ivanovski, Olivera Djuric, Stefano Giuseppe Caraffi, Daniela Santodirocco, Marzia Pollazzon et al.

Genetics in Medicine 2018 20 :965 - 975; January 04, 2018; 10.1038/gim.2017.221

 

Abstract | Full Text

A systematic analysis of online marketing materials used by providers of expanded carrier screening

Davit Chokoshvili, Pascal Borry & Danya F Vears

Genetics in Medicine 2017 20 :976 - 984; December 14, 2017; 10.1038/gim.2017.222

 

Abstract | Full Text

Cost-effectiveness analysis of germ-line BRCA testing in women with breast cancer and cascade testing in family members of mutation carriers

Haitham W Tuffaha, Andrew Mitchell, Robyn L Ward, Luke Connelly, James R G Butler et al.

Genetics in Medicine 2018 20 :985 - 994; January 04, 2018; 10.1038/gim.2017.231

 

Abstract | Full Text

Proposed outcomes measures for state public health genomic programs

Debra Lochner Doyle, Mindy Clyne, Juan L Rodriguez, Deborah L Cragun, Laura Senier et al.

Genetics in Medicine 2018 20 :995 - 1003; January 04, 2018; 10.1038/gim.2017.229

 

Abstract | Full Text

A homozygous founder missense variant in arylsulfatase G abolishes its enzymatic activity causing atypical Usher syndrome in humans

Samer Khateb, Björn Kowalewski, Nicola Bedoni, Markus Damme, Netta Pollack et al.

Genetics in Medicine 2018 20 :1004 - 1012; January 04, 2018; 10.1038/gim.2017.227

 

Abstract | Full Text

The cost and diagnostic yield of exome sequencing for children with suspected genetic disorders: a benchmarking study

Nick Dragojlovic, Alison M Elliott, Shelin Adam, Clara van Karnebeek, Anna Lehman et al.

Genetics in Medicine 2018 20 :1013 - 1021; January 04, 2018; 10.1038/gim.2017.226

 

Abstract | Full Text

Genetic analysis of CHARGE syndrome identifies overlapping molecular biology

Amanda Moccia, Anshika Srivastava, Jennifer M Skidmore, John A Bernat, Marsha Wheeler et al.

Genetics in Medicine 2018 20 :1022 - 1029; January 04, 2018; 10.1038/gim.2017.233

 

Abstract | Full Text

Development and evaluation of a genomics training program for community health workers in Texas

Lei-Shih Chen, Shixi Zhao, Donaji Stelzig, Shweta U Dhar, Tanya Eble et al.

Genetics in Medicine 2018 20 :1030 - 1037; January 04, 2018; 10.1038/gim.2017.236

 

Abstract | Full Text

Age and perceived risks and benefits of preventive genomic screening

Margaret Waltz, R Jean Cadigan, Anya E R Prince, Debra Skinner & Gail E Henderson

Genetics in Medicine 2017 20 :1038 - 1044; December 07, 2017; 10.1038/gim.2017.206

 

Abstract | Full Text

Proband-only medical exome sequencing as a cost-effective first-tier genetic diagnostic test for patients without prior molecular tests and clinical diagnosis in a developing country: the China experience

Xuyun Hu, Niu Li, Yufei Xu, Guoqiang Li, Tingting Yu et al.

Genetics in Medicine 2017 20 :1045 - 1053; November 02, 2017; 10.1038/gim.2017.195

 

Abstract | Full Text

Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework

Sean V Tavtigian, Marc S Greenblatt, Steven M Harrison, Robert L Nussbaum, Snehit A Prabhu et al.

Genetics in Medicine 2018 20 :1054 - 1060; January 04, 2018; 10.1038/gim.2017.210

 

Abstract | Full Text

A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations

Eric Lee, Trang Le, Ying Zhu, George Elakis, Anne Turner et al.

Genetics in Medicine 2017 20 :1061 - 1068; December 07, 2017; 10.1038/gim.2017.214

 

Abstract | Full Text

Patient understanding of, satisfaction with, and perceived utility of whole-genome sequencing: findings from the MedSeq Project

J Scott Roberts, Jill O Robinson, Pamela M Diamond, Archana Bharadwaj, Kurt D Christensen et al.

Genetics in Medicine 2018 20 :1069 - 1076; January 04, 2018; 10.1038/gim.2017.223

 

Abstract | Full Text

Brief Communication

Urine cell-free DNA is a biomarker for nephroblastomatosis or Wilms tumor in PIK3CA-related overgrowth spectrum (PROS)

Marta Biderman Waberski, Marjorie Lindhurst, Kim M Keppler-Noreuil, Julie C Sapp, Laura Baker et al.

Genetics in Medicine 2018 20 :1077 - 1081; January 04, 2018; 10.1038/gim.2017.228

 

Abstract | Full Text

Prevalence of neurofibromatosis type 1 in the Finnish population

Roope A Kallionpää, Elina Uusitalo, Jussi Leppävirta, Minna Pöyhönen, Sirkku Peltonen et al.

Genetics in Medicine 2017 20 :1082 - 1086; December 07, 2017; 10.1038/gim.2017.215

 

Abstract | Full Text

Phenocopies in melanoma-prone families with germ-line CDKN2A mutations

Hildur Helgadottir, Håkan Olsson, Margaret A Tucker, Xiaohong R Yang, Veronica Höiom et al.

Genetics in Medicine 2017 20 :1087 - 1090; December 07, 2017; 10.1038/gim.2017.216

 

Abstract | Full Text

Correspondence

Fragile X population carrier screening

Sylvia A Metcalfe, Martin B Delatycki, Jonathan Cohen, Alison D Archibald & Jon D Emery

Genetics in Medicine 2017 20 :1091 - 1092; December 07, 2017; 10.1038/gim.2017.209

 

Abstract | Full Text

Response to Metcalfe et al.

David P Dimmock

Genetics in Medicine 2017 20 :1093 - 1093; December 14, 2017; 10.1038/gim.2017.208

 

Abstract | Full Text

Conflicts of interest in genetic counseling: addressing and delivering

Daniela Iacoboni, Kate Lynch, Edward D Esplin & Robert L Nussbaum

Genetics in Medicine 2018 20 :1094 - 1095; January 04, 2018; 10.1038/gim.2017.234

 

Abstract | Full Text

Conflicts of interest in genetic counseling: persistent underlying questions

Katie A Stoll, Amanda Mackison, Megan A Allyse & Marsha Michie

Genetics in Medicine 2018 20 :1096 - 1097; January 04, 2018; 10.1038/gim.2017.235

 

Abstract | Full Text

Correction

CORRIGENDUM: The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT

Curtis R Coughlin II, Michael A Swanson, Kathryn Kronquist, Cécile Acquaviva, Tim Hutchin et al.

Genetics in Medicine 2018 20 January 04, 2018; 10.1038/gim.2017.232

 

Abstract | Full Text

Correction: Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases

Kelly D Farwell Hagman, Deepali N Shinde, Cameron Mroske, Erica Smith, Kelly Radtke et al.

Genetics in Medicine 2018 20 :1099 - 1102; February 01, 2018; 10.1038/gim.2017.263

 

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.

You have been sent this Table of Contents Alert because you have opted in to receive it. You can change or discontinue your e-mail alerts at any time, by modifying your preferences on your nature.com account at: www.nature.com/nams/svc/myaccount (You will need to log in to be recognised as a nature.com registrant).

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.

Springer Nature |One New York Plaza, Suite 4500 | New York | NY 10004-1562 | USA

Springer Nature's worldwide offices:
London - Paris - Munich - New Delhi - Tokyo - Melbourne
San Diego - San Francisco - Washington - New York - Boston

Macmillan Publishers Limited is a company incorporated in England and Wales under company number 785998 and whose registered office is located at The Campus, 4 Crinan Street, London, N1 9XW.

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

Springer Nature