Volume 17 Issue 11, November 2015

News Briefs

The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature

• Marije E. C. Meuwissen
• Dicky J. J. Halley
• Grazia M. S. Mancini

Returning pharmacogenetic secondary findings from genome sequencing: let’s not put the cart before the horse

• A. Cecile J. W. Janssens
• James P. Evans

Pushing the envelope in genomics education

• Bruce R. Korf

Symptom-driven idiopathic disease gene identification

• Bhuvan Molparia
• Phillip H. Pham
• Ali Torkamani

How do students react to analyzing their own genomes in a whole-genome sequencing course?: outcomes of a longitudinal cohort study

• Saskia C. Sanderson
• Michael D. Linderman
• Eric E. Schadt

Assessing the utility of confirmatory studies following identification of large-scale genomic imbalances by microarray

• Jennifer N. Sanmann
• Diane L. Pickering
• Warren G. Sanger

Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity

• Ahmed A. Alfares
• Melissa A. Kelly
• Heidi L. Rehm

Haplotype-based approach for noninvasive prenatal tests of Duchenne muscular dystrophy using cell-free fetal DNA in maternal plasma

• Yan Xu
• Xuchao Li
• Xing Ji

Is maternal plasma DNA testing impacting serum-based screening for aneuploidy in the United States?

• Glenn E. Palomaki
• Edward R. Ashwood
• George J. Knight

Whole-exome sequencing reveals diverse modes of inheritance in sporadic mild to moderate sensorineural hearing loss in a pediatric population

• Nayoung K. D. Kim
• Ah Reum Kim
• Byung Yoon Choi

CRIM-negative infantile Pompe disease: characterization of immune responses in patients treated with ERT monotherapy

• Kathryn L. Berrier
• Zoheb B. Kazi
• Priya S. Kishnani

Assessing multilevel determinants of adoption and implementation of genomic medicine: an organizational mixed-methods approach

• Sabine M. Oishi
• Nell Marshall
• Maren T. Scheuner

Training future physicians in the era of genomic medicine: trends in undergraduate medical genetics education

• Jevon Plunkett-Rondeau
• Katherine Hyland
• Shoumita Dasgupta

Savior siblings and Fanconi anemia: analysis of success rates from the family’s perspective

• Juan P. Trujillo
• Jordi Surralles

Development of clinical decision support alerts for pharmacogenomic incidental findings from exome sequencing

• Adam A. Nishimura
• Brian H. Shirts
• Peter Tarczy-Hornoch

Gene–environment interactions

• Reed E. Pyeritz