Volume 15 Issue 12, December 2013

News Briefs

Minimizing liability risks under the ACMG recommendations for reporting incidental findings in clinical exome and genome sequencing

• Barbara J. Evans

Personalized medicine and genetic malpractice

• Gary E. Marchant
• Rachel A. Lindor

“I prefer a child with …”: designer babies, another controversial patent in the arena of direct-to-consumer genomics

• Sigrid Sterckx
• Julian Cockbain
• Pascal Borry

Implementation of routine screening for Lynch syndrome in university and safety-net health system settings: successes and challenges

• Evelyn Marquez
• Zhuo Geng
• Samir Gupta

Underutilization of Lynch syndrome screening in a multisite study of patients with colorectal cancer

• Deanna S. Cross
• Alanna Kulchak Rahm
• Katrina A.B. Goddard

Alu-mediated nonallelic homologous and nonhomologous recombination in the BMPR2 gene in heritable pulmonary arterial hypertension

• Masaharu Kataoka
• Yuki Aimi
• Shinobu Gamou

The use of next-generation sequencing in clinical diagnosis of familial hypercholesterolemia

• Jana Vandrovcova
• Ellen R.A. Thomas
• Timothy J. Aitman

Analysis of left ventricular mass in untreated men and in men treated with agalsidase-β: data from the Fabry Registry

• Dominique P. Germain
• Frank Weidemann
• Jörg Strotmann

Self-reported reproductive health in women with tuberous sclerosis complex

• Emily K. Gabitzsch
• Syed S. Hashmi
• Michael J. Gambello

Clinical predictors of genetic testing outcomes in hypertrophic cardiomyopathy

• Jodie Ingles
• Tanya Sarina
• Christopher Semsarian

Insurance coverage of medical foods for treatment of inherited metabolic disorders

• Susan A. Berry
• Mary Kay Kenney
• Coleen A. Boyle

Changes in plasma and urine globotriaosylceramide levels do not predict Fabry disease progression over 1 year of agalsidase alfa

• Raphael Schiffmann
• Markus Ries
• Pedro Huertas

Renal growth in isolated methylmalonic acidemia

• Paul S. Kruszka
• Irini Manoli
• Charles P. Venditti

NCI think tank concerning the identifiability of biospecimens and “omic” data

• Carol J. Weil
• Leah E. Mechanic
• Laura D. Buccini

A mosaic PTEN mutation causing Cowden syndrome identified by deep sequencing

• Colin C. Pritchard
• Christina Smith
• Robin L. Bennett

Reviewer Acknowledgment 2013