Volume 15 Issue 7, July 2013

News Briefs

Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype

• Miguel López de Heredia
• Ramón Clèries
• Virginia Nunes

Beyond the genomics blueprint: the 4th Human Variome Project Meeting, UNESCO, Paris, 2012

• Maija R.J. Kohonen-Corish
• Timothy D. Smith
• Helen M. Robinson

Primary-care physicians’ access to genetic specialists: an impediment to the routine use of genomic medicine?

• Susanne B. Haga
• Wylie Burke
• Robert Agans

When is a medical finding “incidental”?

• James P. Evans

Recommendations from the EGAPP Working Group: can testing of tumor tissue for mutations in EGFR pathway downstream effector genes in patients with metastatic colorectal cancer improve health outcomes by guiding decisions regarding anti-EGFR therapy?

A clinical appraisal of different Z-score equations for aortic root assessment in the diagnostic evaluation of Marfan syndrome

• Roland R.J. van Kimmenade
• Marlies Kempers
• Janneke Timmermans

Cascade carrier testing after a child is diagnosed with cystic fibrosis through newborn screening: investigating why most relatives do not have testing

• Belinda J. McClaren
• MaryAnne Aitken
• Sylvia A. Metcalfe

Creation of a national resource with linked genealogy and phenotypic data: the Veterans Genealogy Project

• Lisa A. Cannon-Albright
• Sue Dintelman
• Laurence J. Meyer

Cognitive characteristics of PTEN hamartoma tumor syndromes

• Robyn M. Busch
• Jessica S. Chapin
• Charis Eng

Assessing genotype–phenotype correlation in Costello syndrome using a severity score

• Elizabeth M. McCormick
• Elizabeth Hopkins
• Karen W. Gripp

Attitudes of Canadian researchers toward the return to participants of incidental and targeted genomic findings obtained in a pediatric research setting

• Conrad V. Fernandez
• Caron Strahlendorf
• Poul H. Sorensen

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

• Robert C. Green
• Jonathan S. Berg
• Leslie G. Biesecker

ACMG Standards and Guidelines for fragile X testing: a revision to the disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics and Genomics

• Kristin G. Monaghan
• Elaine Lyon
• Elaine B. Spector

Erratum: Novel candidate genes and regions for childhood apraxia of speech identified by array comparative genomic hybridization