Volume 16 Issue 12, December 2014

News Briefs

Vascular Ehlers–Danlos syndrome, pixels, and high-definition clinical genomics

• Michael F. Murray

Utility before business

• Steven M. Teutsch
• Jonathan E. Fielding
• James P. Evans

Translational research is a key to nongeneticist physicians’ genomics education

• W. Gregory Feero
• Teri A. Manolio
• Muin J. Khoury

Pregnancy-related deaths and complications in women with vascular Ehlers–Danlos syndrome

• Mitzi L. Murray
• Melanie Pepin
• Peter H. Byers

Survival is affected by mutation type and molecular mechanism in vascular Ehlers–Danlos syndrome (EDS type IV)

• Melanie G. Pepin
• Ulrike Schwarze
• Peter H. Byers

Postanalytical tools improve performance of newborn screening by tandem mass spectrometry

• Patricia L. Hall
• Gregg Marquardt
• Piero Rinaldo

Comparison of risk management strategies between women testing positive for a BRCA variant of unknown significance and women with known BRCA deleterious mutations

• Christine Garcia
• Liisa Lyon
• C. Bethan Powell

Comprehensive and quantitative multilocus methylation analysis reveals the susceptibility of specific imprinted differentially methylated regions to aberrant methylation in Beckwith–Wiedemann syndrome with epimutations

• Toshiyuki Maeda
• Ken Higashimoto
• Hidenobu Soejima

Multifactorial beliefs about the role of genetics and behavior in common health conditions: prevalence and associations with participant characteristics and engagement in health behaviors

• Erika A. Waters
• Jaclyn Muff
• Jada G. Hamilton

The usefulness of whole-exome sequencing in routine clinical practice

• Alejandro Iglesias
• Kwame Anyane-Yeboa
• Wendy K. Chung

Public preferences for the return of research results in genetic research: a conjoint analysis

• Juli Murphy Bollinger
• John F.P. Bridges
• David Kaufman

Ethnic effect on FMR1 carrier rate and AGG repeat interruptions among Ashkenazi women

• Karin Weiss
• Avi Orr-Urtreger
• Shay Ben-Shachar

Targeted next-generation sequencing of deafness genes in hearing-impaired individuals uncovers informative mutations

• Barbara Vona
• Tobias Müller
• Thomas Haaf

The business of genomic testing: a survey of early adopters

• James M. Crawford
• Lynn Bry
• Jill H. Kaufman

Accurate mitochondrial DNA sequencing using off-target reads provides a single test to identify pathogenic point mutations

• Helen R. Griffin
• Angela Pyle
• Patrick F. Chinnery

Noninvasive prenatal testing for autosomal recessive conditions by maternal plasma sequencing in a case of congenital deafness

• Meng Meng
• Xuchao Li
• Tao Duan

How do research participants perceive “uncertainty” in genome sequencing?

• Barbara B. Biesecker
• William Klein
• Paul K. Han

Michael Kaback: people and places

• Michael M. Kaback

Genomics education for Veterans Affairs nurses

• Kendra L. Schaa
• Gwen Anderson
• Andrea M. Boyd

Reviewer Acknowledgment 2014

Erratum: Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer

American College of Medical Genetics and Genomics Standards and Guidelines for Clinical Genetics Laboratories, 2014 edition: technical standards and guidelines for Huntington disease

• Lora Bean
• Pinar Bayrak-Toydemir