Genetics in Medicine contents: Volume 20, Issue 2

TABLE OF CONTENTS Volume 20, Issue 2 (February 2018) In this issue Research Highlights ACMG Statement Original Research Articles Brief Report Erratum/Corrigendum Podcast Also new AOP Sign up for e-alerts Recommend to your library Web feed Subscribe Sign in for free ACMG member access Research Highlights In This Issue Genetics in Medicine 2018 20 :167 - 167; February 22, 2018; 10.1038/gim.2017.267 Abstract | Full Text News Briefs Genetics in Medicine 2018 20 :168 - 168; February 22, 2018; 10.1038/gim.2017.268 Abstract | Full Text ACMG Statement Professional responsibilities regarding the provision, publication, and dissemination of patient phenotypes in the context of clinical genetic and genomic testing: points to consider—a statement of the American College of Medical Genetics and Genomics (ACMG) Lynn W Bush, Anita E Beck, Leslie G Biesecker, James P Evans, Ada Hamosh et al. Genetics in Medicine 2018 20 :169 - 171; January 11, 2018; 10.1038/gim.2017.242 Abstract | Full Text Original Research Articles De novo and rare inherited copy-number variations in the hemiplegic form of cerebral palsy Mehdi Zarrei, Darcy L Fehlings, Karizma Mawjee, Lauren Switzer, Bhooma Thiruvahindrapuram et al. Genetics in Medicine 2017 20 :172 - 180; August 03, 2017; 10.1038/gim.2017.83 Abstract | Full Text Parental preferences toward genomic sequencing for non-medically actionable conditions in children: a discrete-choice experiment Megan A Lewis, Alex Stine, Ryan S Paquin, Carol Mansfield, Dallas Wood et al. Genetics in Medicine 2017 20 :181 - 189; August 03, 2017; 10.1038/gim.2017.93 Abstract | Full Text Multiplex epithelium dysfunction due to CLDN10 mutation: the HELIX syndrome Smail Hadj-Rabia, Gaelle Brideau, Yasser Al-Sarraj, Rachid C Maroun, Marie-Lucile Figueres et al. Genetics in Medicine 2017 20 :190 - 201; August 03, 2017; 10.1038/gim.2017.71 Abstract | Full Text Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations Kristof Van Schil, Sarah Naessens, Stijn Van de Sompele, Marjolein Carron, Alexander Aslanidis et al. Genetics in Medicine 2017 20 :202 - 213; July 27, 2017; 10.1038/gim.2017.97 Abstract | Full Text Quality of life in men with Klinefelter syndrome: the impact of genotype, health, socioeconomics, and sexual function Genetics in Medicine 2017 20 :214 - 222; July 20, 2017; 10.1038/gim.2017.110 Abstract | Full Text Interpreting the clinical significance of combined variants in multiple recessive disease genes: systematic investigation of Joubert syndrome yields little support for oligogenicity Ian G Phelps, Jennifer C Dempsey, Megan E Grout, Christine R Isabella, Hannah M Tully et al. Genetics in Medicine 2017 20 :223 - 233; August 03, 2017; 10.1038/gim.2017.94 Abstract | Full Text Racial/ethnic differences in multiple-gene sequencing results for hereditary cancer risk Jennifer L Caswell-Jin, Tanya Gupta, Evan Hall, Iva M Petrovchich, Meredith A Mills et al. Genetics in Medicine 2017 20 :234 - 239; July 27, 2017; 10.1038/gim.2017.96 Abstract | Full Text The wide genetic landscape of clinical frontotemporal dementia: systematic combined sequencing of 121 consecutive subjects Cornelis Blauwendraat, Carlo Wilke, Javier Simón-Sánchez, Iris E Jansen, Anika Reifschneider et al. Genetics in Medicine 2017 20 :240 - 249; July 27, 2017; 10.1038/gim.2017.102 Abstract | Full Text Genetic disruption of the oncogenic HMGA2–PLAG1–IGF2 pathway causes fetal growth restriction Walid Abi Habib, Frédéric Brioude, Thomas Edouard, James T Bennett, Anne Lienhardt-Roussie et al. Genetics in Medicine 2017 20 :250 - 258; August 10, 2017; 10.1038/gim.2017.105 Abstract | Full Text SLC39A8 deficiency: biochemical correction and major clinical improvement by manganese therapy Julien H Park, Max Hogrebe, Manfred Fobker, Renate Brackmann, Barbara Fiedler et al. Genetics in Medicine 2017 20 :259 - 268; July 27, 2017; 10.1038/gim.2017.106 Abstract | Full Text B3GAT3-related disorder with craniosynostosis and bone fragility due to a unique mutation Kevin Yauy, Frederic Tran Mau-Them, Marjolaine Willems, Christine Coubes, Patricia Blanchet et al. Genetics in Medicine 2017 20 :269 - 274; August 03, 2017; 10.1038/gim.2017.109 Abstract | Full Text Brief Report De novo variants in the alternative exon 5 of SCN8A cause epileptic encephalopathy Epilepsy Genetics Initiative Genetics in Medicine 2017 20 :275 - 281; September 28, 2017; 10.1038/gim.2017.100 Abstract | Full Text Erratum/Corrigendum ERRATUM: Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics Erin T Strovel, Tina M Cowan, Anna I Scott & Barry Wolf Genetics in Medicine 2017 20 :282 - 282; December 14, 2017; 10.1038/gim.2017.201 Abstract | Full Text Corrigendum: Sources of discordance among germ-line variant classifications in ClinVar Shan Yang, Stephen E Lincoln, Yuya Kobayashi, Keith Nykamp, Robert L Nussbaum et al. Genetics in Medicine 2017 20 :282 - 282; December 07, 2017; 10.1038/gim.2017.198 Abstract | Full Text Podcast Podcast FREE Podcast 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. You have been sent this Table of Contents Alert because you have opted in to receive it. 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