Volume 18 Issue 10, October 2016

On the cover | Catherine Vosecky

“Polar Vortex 6”

“This photo was taken at a pond after an extreme polar vortex which created beautiful patterns in the ice. The light was fading in the late afternoon, bringing out more color. My work is intuitive, imaginative, and reflects the reverence and excitement I have for the natural world.” More of the artist’s work can be seen at http://catherinevosecky.com.

In This Issue

In This Issue

In This Issue 29 Sept 2016

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News Briefs

News Briefs

News Briefs 29 Sept 2016

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Commentary

Epidemiology matters: peering inside the “black box” in economic evaluations of genetic testing

Scott D. Grosse
Muin J. Khoury
Commentary 08 Sept 2016

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Original Research Article

Cost-effectiveness of routine screening for Lynch syndrome in colorectal cancer patients up to 70 years of age

Celine H. M. Leenen
Anne Goverde
Ewout W. Steyerberg
Original Research Article 03 Mar 2016
Improving performance of multigene panels for genomic analysis of cancer predisposition

Brian H. Shirts
Silvia Casadei
Colin C. Pritchard
Original Research Article 04 Feb 2016
Implementation of the 21-gene recurrence score test in the United States in 2011

Julie A. Lynch
Brygida Berse
Andrew N. Freedman
Original Research Article 11 Feb 2016
Defective hepatic bicarbonate production due to carbonic anhydrase VA deficiency leads to early-onset life-threatening metabolic crisis

Carmen Diez-Fernandez
Véronique Rüfenacht
Johannes Häberle
Original Research Article 25 Feb 2016
New targets for monitoring and therapy in Barth syndrome

W. Reid Thompson
Brittany DeCroes
Hilary J. Vernon
Original Research Article 04 Feb 2016
Oncologists’ and cancer patients’ views on whole-exome sequencing and incidental findings: results from the CanSeq study

Stacy W. Gray
Elyse R. Park
Steven Joffe
Original Research Article 11 Feb 2016
Clinical utility of a Web-enabled risk-assessment and clinical decision support program

Lori A. Orlando
R. Ryanne Wu
Geoffrey S. Ginsburg
Original Research Article 03 Mar 2016
Establishing the precise evolutionary history of a gene improves prediction of disease-causing missense mutations

Ogun Adebali
Alexander O. Reznik
Igor B. Zhulin
Original Research Article Open Access 18 Feb 2016
Molecular diagnosis of glycogen storage disease and disorders with overlapping clinical symptoms by massive parallel sequencing

Ana I Vega
Celia Medrano
Belen Pérez
Original Research Article 25 Feb 2016
Hypomorphic mutations identified in the candidate Leber congenital amaurosis gene CLUAP1

Zachry T. Soens
Yuanyuan Li
Rui Chen
Original Research Article 28 Jan 2016

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Brief Report

Contribution of genomic copy-number variations in prenatal oral clefts: a multicenter cohort study

Ye Cao
Zhihua Li
Kwong Wai Choy
Brief Report 25 Feb 2016

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ACMG Statement

Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics

Anthony R. Gregg
Brian G. Skotko
Michael S. Watson

Collection:

ACMG Statements and Guidelines
ACMG Statement 28 Jul 2016

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Corrigendum

Correction: Corrigendum: The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families

Corrigendum 29 Sept 2016

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Volume 18 Issue 10, October 2016

In This Issue

In This Issue

News Briefs

News Briefs

Commentary

Epidemiology matters: peering inside the “black box” in economic evaluations of genetic testing

Original Research Article

Cost-effectiveness of routine screening for Lynch syndrome in colorectal cancer patients up to 70 years of age

Improving performance of multigene panels for genomic analysis of cancer predisposition

Implementation of the 21-gene recurrence score test in the United States in 2011

Defective hepatic bicarbonate production due to carbonic anhydrase VA deficiency leads to early-onset life-threatening metabolic crisis

New targets for monitoring and therapy in Barth syndrome

Oncologists’ and cancer patients’ views on whole-exome sequencing and incidental findings: results from the CanSeq study

Clinical utility of a Web-enabled risk-assessment and clinical decision support program

Establishing the precise evolutionary history of a gene improves prediction of disease-causing missense mutations

Molecular diagnosis of glycogen storage disease and disorders with overlapping clinical symptoms by massive parallel sequencing

Hypomorphic mutations identified in the candidate Leber congenital amaurosis gene CLUAP1

Brief Report

Contribution of genomic copy-number variations in prenatal oral clefts: a multicenter cohort study

ACMG Statement

Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics

Corrigendum

Correction: Corrigendum: The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families

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