Published on 04/21/2016
Human Genomics across the Lifespan
Birth Defects and Child Health
Expectation versus Reality: The Impact of Utility on Emotional Outcomes after Returning Individualized Genetic Research Results in Pediatric Rare Disease Research, a Qualitative Interview Study.
Cacioppo Cara N et al. PloS one 2016 11(4) e0153597
New insights in the interpretation of array-CGH: autism spectrum disorder and positive family history for intellectual disability predict the detection of pathogenic variants.
Cappuccio Gerarda et al. Italian journal of pediatrics 2016 42(1) 39
The Cystic Fibrosis Foundation Patient Registry: Design and Methods of a National Observational Disease Registry.
Knapp Emily A et al. Annals of the American Thoracic Society 2016 Apr
Personalizing the royal treatment for hemophilia
Hulbert ML Science Translational Medicine 20 Apr 2016
How I Do It: Genetic counseling and genetic testing for inherited prostate cancer.
Giri Veda N et al. The Canadian journal of urology 2016 Apr 23(2) 8247-53
Incorporating truncating variants in PALB2, CHEK2, and ATM into the BOADICEA breast cancer risk model.
Lee Andrew J, et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 0 0. (12) 1190-1198
Unsolicited findings of next-generation sequencing for tumor analysis within a Dutch consortium: clinical daily practice reconsidered.
Bijlsma Rhodé M et al. European journal of human genetics : EJHG 2016 Apr
Universal Genomic Testing Needed to Win the War Against Cancer: Genomics IS the Diagnosis.
Subbiah Vivek et al. JAMA oncology 2016 Apr
Nomenclature of genetic movement disorders: Recommendations of the international Parkinson and movement disorder society task force.
Marras Connie et al. Movement disorders : official journal of the Movement Disorder Society 2016 Apr 31(4) 436-57
Feedback of Individual Genetic Results to Research Participants: Is it Feasible in Europe?
Budin-Ljøsne Isabelle et al. Biopreservation and biobanking 2016 Apr
Genetic discrimination lawsuit raises broader concerns about testing, privacy: Case involves middle school student impacted by results of genetic screening test as newborn.
et al. American journal of medical genetics. Part A 2016 May 170(5) 1111-2
A research roadmap for next-generation sequencing informatics.
Altman Russ B, et al. Science translational medicine 2016 0 0. (335) 335ps10
Heart, Lung, Blood and Sleep Diseases
Expert consensus on the rational clinical use of proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibitors.
Achimastos Apostolos et al. Hormones (Athens, Greece) 2016 Jan 15(1) 8-14
High-Quality Exome Sequencing of Whole-Genome Amplified Neonatal Dried Blood Spot DNA.
Poulsen Jesper Buchhave et al. PloS one 2016 11(4) e0153253
Live births, natural losses, and elective terminations with Down syndrome in Massachusetts.
de Graaf Gert, et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 0 0. (5) 459-66
Scientists identify genes connected to wellbeing, depression and neuroticism,
Science Daily, April 19, 2016
The path of most resistance causal human biology and the druggable genome,
by Robert Plenge, Plenge Gen, April 16, 2016
Gene-editing hack yields pinpoint precision,
by Heidi Ledford, Nature News, April 20, 2016
More People Seek Genetic Testing, But There Aren't Enough Counselors,
by Todd Bookman, NPR, April 18, 2016
Gene-Editing Technique Improves Immunotherapy,
GEN, April 18, 2016
Pharmacogenomics Clinical Annotation Tool (PharmCAT),
the PharmGKB Blog, April 15, 2016
Green light for Duchenne muscular dystrophy drug,
BBC News, April 15, 2016
Genetic influences on the risk of stroke,
Genomic Education Programme, April 18, 2016
DNA analysis could help improve your workout: study,
by Edward Baran, Reuters, April 14, 2016
Cracking the connection between genes and diet could lead to future heart disease treatments,
American Heart Association News, April 19, 2016