Volume 18 Issue 2, February 2016

News Briefs

Economic evidence on identifying clinically actionable findings with whole-genome sequencing: a scoping review

• Michael P. Douglas
• Uri Ladabaum
• Kathryn A. Phillips

Translating rare-disease therapies into improved care for patients and families: what are the right outcomes, designs, and engagement approaches in health-systems research?

• Beth K. Potter
• Sara D. Khangura
• Julian Little

With great (participant) rights comes great (researcher) responsibility

• Gail E. Henderson

State-offered ethnically targeted reproductive genetic testing

• Ellen Wright Clayton
• Kyle B. Brothers

A classification system for clinical relevance of somatic variants identified in molecular profiling of cancer

• Mahadeo A. Sukhai
• Kenneth J. Craddock
• Suzanne Kamel-Reid

Does rapid genetic counseling and testing in newly diagnosed breast cancer patients cause additional psychosocial distress? results from a randomized clinical trial

• Marijke R. Wevers
• Margreet G. E. M. Ausems
• Neil K. Aaronson

Cystic fibrosis carrier screening effects on birth prevalence and newborn screening

• Carlo Castellani
• Luigi Picci
• Baroukh M. Assael

Stakeholder perspectives on implementing a universal Lynch syndrome screening program: a qualitative study of early barriers and facilitators

• Jennifer L. Schneider
• James Davis
• Katrina A. B. Goddard

Outcomes of four patients with homocysteine remethylation disorders detected by newborn screening

• Derek Wong
• Silvia Tortorelli
• Dimitar Gavrilov

Clinical performance of the CytoScan Dx Assay in diagnosing developmental delay/intellectual disability

• Rolph Pfundt
• Kat Kwiatkowski
• Alka Chaubey

Targeted mutation screening panels expose systematic population bias in detection of cystic fibrosis risk

• Regine M. Lim
• Ari J. Silver
• Lee M. Silver

Differential diagnosis of Bartter syndrome, Gitelman syndrome, and pseudo–Bartter/Gitelman syndrome based on clinical characteristics

• Natsuki Matsunoshita
• Kandai Nozu
• Kazumoto Iijima

Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defect

• Lisa C. A. D’Alessandro
• Saeed Al Turki
• Seema Mital

Efficacy of a medical genetics rotation during pediatric training

• Joanne Nguyen
• Jennifer Lemons
• Hope Northrup

The Israeli national population program of genetic carrier screening for reproductive purposes

• Joël Zlotogora
• Itamar Grotto
• Ronni Gamzu

Direct-to-consumer genetic testing: a revised position statement of the American College of Medical Genetics and Genomics

Bias in CFTR screening panels

• Patrick R. Sosnay
• Carlo Castellani
• Garry R. Cutting

Response to Sosnay et al.

• Jessica L. Larson
• Regine M. Lim
• Lee M. Silver

Retraction Note: Retraction notice for: “Validation of a multiplex genotyping platform using a novel genomic database approach”