Thursday, February 22, 2018

Genetics in Medicine contents: Volume 20, Issue 2

Genetics in Medicine


Volume 20, Issue 2 (February 2018)

In this issue
Research Highlights
ACMG Statement
Original Research Articles
Brief Report
Also new

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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 HMGA2PLAG1IGF2 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: 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


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