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dinsdag 25 september 2018

Genetics in Medicine contents: Volume 20, Issue 9

Genetics in Medicine

Volume 20, Issue 9

In this issue
ACMG Practice Resources
Invited Review
Review Article
Special Article
Brief Communication
Also new
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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


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


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


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


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


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