Wednesday, June 6, 2018

Genetics in Medicine contents: Volume 20, Issue 6

Genetics in Medicine
 
TABLE OF CONTENTS

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

In This Issue

 

Genetics in Medicine 2018 20 :559 - 559; June 05, 2018; 10.1038/gim.2018.59

 

Abstract | Full Text

News Briefs

 

Genetics in Medicine 2018 20 :560 - 560; June 05, 2018; 10.1038/gim.2018.60

 

Abstract | Full Text

ACMG Statement

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

Systematic Review

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

Review

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

Original Research Articles

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

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

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

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

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

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

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

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

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

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

Brief Report

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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