Volume 17 Issue 12, December 2015

On the cover | Amy Fletcher

“Mid-June”

Mid-June (inspired by the music of Robyn Hitchcock), 2014, acrylic on linen, 30” × 40”. Amy is an award-winning artist and recipient of the Ella Pratt Emerging Artist Grant for 2015. A multidisciplinary artist, she is inspired by music as she creates. More of the artist’s work can be seen at http://www.AmyFletcherArt.com.

In This Issue

In this Issue

In This Issue 03 Dec 2015

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News Briefs

News Briefs

News Briefs 03 Dec 2015

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Review

Stakeholder engagement in policy development: challenges and opportunities for human genomics

Amy A. Lemke
Julie N. Harris-Wai
Review 12 Mar 2015

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Commentary

Too much, too soon?: Commercial provision of noninvasive prenatal screening for subchromosomal abnormalities and beyond

Megan Allyse
Subhashini Chandrasekharan
Commentary 19 Mar 2015
Legislation in the genomic era: the Affordable Care Act and genetic testing for cancer risk assessment

Farzana L. Walcott
Barbara K. Dunn
Commentary 05 Mar 2015

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Original Research Article

Ultra-orphan diseases: a quantitative analysis of the natural history of molybdenum cofactor deficiency

Konstantin Mechler
William K. Mountford
Markus Ries
Original Research Article 12 Mar 2015
Lysosomal storage disease in the brain: mutations of the β-mannosidase gene identified in autosomal dominant nystagmus

Ping Yu
Yun Cui
Jia Qu
Original Research Article 05 Mar 2015
The importance of an integrated analysis of clinical, molecular, and functional data for the genetic diagnosis of familial hypercholesterolemia

Asier Benito-Vicente
Ana Catarina Alves
Mafalda Bourbon
Original Research Article 05 Mar 2015
Fatty acid oxidation flux predicts the clinical severity of VLCAD deficiency

Eugene F. Diekman
Sacha Ferdinandusse
Gepke Visser
Original Research Article 02 Apr 2015
A genome sequencing program for novel undiagnosed diseases

Cinnamon S. Bloss
Ashley A. Scott-Van Zeeland
Ali Torkamani

Nature Outlook:

Precision medicine
Original Research Article Open Access 19 Mar 2015

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Brief Report

Determining the prevalence of McArdle disease from gene frequency by analysis of next-generation sequencing data

Mauricio De Castro
Jennifer Johnston
Leslie Biesecker
Brief Report 05 Mar 2015
Frequency and spectrum of actionable pathogenic secondary findings in 196 Korean exomes

Mi-Ae Jang
Sang-Heon Lee
Chang-Seok Ki
Brief Report 09 Apr 2015

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Letter to the Editor

Interpreting sequence variants in a clinical context

Stephen Cederbaum
Letter to the Editor 05 Nov 2015
Response to Cederbaum

Letter to the Editor 12 Nov 2015

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Volume 17 Issue 12, December 2015

In This Issue

In this Issue

News Briefs

News Briefs

Review

Stakeholder engagement in policy development: challenges and opportunities for human genomics

Commentary

Too much, too soon?: Commercial provision of noninvasive prenatal screening for subchromosomal abnormalities and beyond

Legislation in the genomic era: the Affordable Care Act and genetic testing for cancer risk assessment

Original Research Article

Ultra-orphan diseases: a quantitative analysis of the natural history of molybdenum cofactor deficiency

Lysosomal storage disease in the brain: mutations of the β-mannosidase gene identified in autosomal dominant nystagmus

The importance of an integrated analysis of clinical, molecular, and functional data for the genetic diagnosis of familial hypercholesterolemia

Fatty acid oxidation flux predicts the clinical severity of VLCAD deficiency

A genome sequencing program for novel undiagnosed diseases

Brief Report

Determining the prevalence of McArdle disease from gene frequency by analysis of next-generation sequencing data

Frequency and spectrum of actionable pathogenic secondary findings in 196 Korean exomes

Letter to the Editor

Interpreting sequence variants in a clinical context

Response to Cederbaum

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