TABLE OF CONTENTS
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Volume 20, Issue 6 |
| In this issue Research Highlights ACMG Statement Systematic Review Review Original Research Articles Brief Report Podcast Also new AOP | |
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Research Highlights | |
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In This Issue Genetics in Medicine 2018 20 :559 - 559; June 05, 2018; 10.1038/gim.2018.59 Abstract | Full Text |
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News Briefs Genetics in Medicine 2018 20 :560 - 560; June 05, 2018; 10.1038/gim.2018.60 Abstract | Full Text |
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ACMG Statement | |
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Considerations in healthcare reform for patients and families with genetic diseases: a statement of the American College of Medical Genetics and Genomics Genetics in Medicine 2018 20 :561 - 561; February 01, 2018; 10.1038/gim.2017.259 Abstract | Full Text |
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Systematic Review | |
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Vascular phenotypes in nonvascular subtypes of the Ehlers-Danlos syndrome: a systematic review Sanne D'hondt, Tim Van Damme & Fransiska Malfait Genetics in Medicine 2017 20 :562 - 573; October 05, 2017; 10.1038/gim.2017.138 Abstract | Full Text |
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Review | |
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From public health genomics to precision public health: a 20-year journey Muin J Khoury, M Scott Bowen, Mindy Clyne, W David Dotson, Marta L Gwinn et al. Genetics in Medicine 2017 20 :574 - 582; December 14, 2017; 10.1038/gim.2017.211 Abstract | Full Text |
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Original Research Articles | |
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Monogenic diabetes in overweight and obese youth diagnosed with type 2 diabetes: the TODAY clinical trial Jeffrey W Kleinberger, Kenneth C Copeland, Rachelle G Gandica, Morey W Haymond, Lynne L Levitsky et al. Genetics in Medicine 2017 20 :583 - 590; October 12, 2017; 10.1038/gim.2017.150 Abstract | Full Text |
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Analysis of publicly available LDLR, APOB, and PCSK9 variants associated with familial hypercholesterolemia: application of ACMG guidelines and implications for familial hypercholesterolemia diagnosis Joana Rita Chora, Ana Margarida Medeiros, Ana Catarina Alves & Mafalda Bourbon Genetics in Medicine 2017 20 :591 - 598; October 26, 2017; 10.1038/gim.2017.151 Abstract | Full Text |
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Noncoding copy-number variations are associated with congenital limb malformation Ricarda Flöttmann, Bjørt K Kragesteen, Sinje Geuer, Magdalena Socha, Lila Allou et al. Genetics in Medicine 2017 20 :599 - 607; October 12, 2017; 10.1038/gim.2017.154 Abstract | Full Text |
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Pilot study of population-based newborn screening for spinal muscular atrophy in New York state Jennifer N Kraszewski, Denise M Kay, Colleen F Stevens, Carrie Koval, Bianca Haser et al. Genetics in Medicine 2017 20 :608 - 613; October 12, 2017; 10.1038/gim.2017.152 Abstract | Full Text |
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A C-terminal nonsense mutation links PTPRQ with autosomal-dominant hearing loss, DFNA73 Tobias Eisenberger, Nataliya Di Donato, Christian Decker, Andrea Delle Vedove, Christine Neuhaus et al. Genetics in Medicine 2017 20 :614 - 621; October 12, 2017; 10.1038/gim.2017.155 Abstract | Full Text |
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Novel copy-number variations in pharmacogenes contribute to interindividual differences in drug pharmacokinetics María Santos, Mikko Niemi, Masahiro Hiratsuka, Masaki Kumondai, Magnus Ingelman-Sundberg et al. Genetics in Medicine 2017 20 :622 - 629; October 26, 2017; 10.1038/gim.2017.156 Abstract | Full Text |
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Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature Nadine N Hauer, Bernt Popp, Eva Schoeller, Sarah Schuhmann, Karen E Heath et al. Genetics in Medicine 2017 20 :630 - 638; October 12, 2017; 10.1038/gim.2017.159 Abstract | Full Text |
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Characterization of pulmonary arteriovenous malformations in ACVRL1 versus ENG mutation carriers in hereditary hemorrhagic telangiectasia Weiyi Mu, Zachary A Cordner, Kevin Yuqi Wang, Kate Reed, Gina Robinson et al. Genetics in Medicine 2017 20 :639 - 644; October 19, 2017; 10.1038/gim.2017.160 Abstract | Full Text |
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Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis Sophie Nambot, Julien Thevenon, Paul Kuentz, Yannis Duffourd, Emilie Tisserant et al. Genetics in Medicine 2017 20 :645 - 654; November 02, 2017; 10.1038/gim.2017.162 Abstract | Full Text |
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Developing a common framework for evaluating the implementation of genomic medicine interventions in clinical care: the IGNITE Network’s Common Measures Working Group Lori A Orlando, Nina R Sperber, Corrine Voils, Marshall Nichols, Rachel A Myers et al. Genetics in Medicine 2017 20 :655 - 663; September 14, 2017; 10.1038/gim.2017.144 Abstract | Full Text |
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Brief Report | |
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Coronary calcification in adults with Turner syndrome Marissa Schoepp, Fady Hannah-Shmouni, Jatin Matta, Ahmed M Ghanem, John A Hanover et al. Genetics in Medicine 2017 20 :664 - 668; October 02, 2017; 10.1038/gim.2017.149 Abstract | Full Text |
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