Genetics in Medicine contents: Volume 20, Issue 9

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. 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. 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