Published on 04/14/2016
Human Genomics across the Lifespan
Birth Defects and Child Health
Clinical utility gene card for: Peters plus syndrome.
Jaeken Jaak et al. European journal of human genetics : EJHG 2016 Apr
Genetic testing and blood biomarkers in paediatric pulmonary hypertension. Expert consensus statement on the diagnosis and treatment of paediatric pulmonary hypertension. The European Paediatric Pulmonary Vascular Disease Network, endorsed by ISHLT and DGPK.
Pattathu Joseph et al. Heart (British Cardiac Society) 2016 May 102 Suppl 2ii36-ii41
Synergistic Patient and Research Knowledge Systems - SPARKS: Oncology Data Retrieval System - OncDRS
Prospective Validation of Rapid Plasma Genotyping for the Detection of EGFR and KRAS Mutations in Advanced Lung Cancer.
Sacher Adrian G et al. JAMA oncology 2016 Apr
Different risk factors for advanced colorectal neoplasm in young adults.
Kim Ji Yeon et al. World journal of gastroenterology 2016 Apr 22(13) 3611-20
Impact of Clinical Genetics Attendance at a Gynecologic Oncology Tumor Board on Referrals for Genetic Counseling and BRCA Mutation Testing.
Cohen Paul A et al. International journal of gynecological cancer : official journal of the International Gynecological Cancer Society 2016 Apr
Impact of genomic testing and patient-reported outcomes on receipt of adjuvant chemotherapy.
Evans Chalanda N et al. Breast cancer research and treatment 2016 Apr
OncDRS: An integrative clinical and genomic data platform for enabling translational research and precision medicine.
Orechia John et al. Applied & translational genomics 2015 Sep 618-25
Trends in Media Reports of Celebrities' Breast Cancer Treatment Decisions.
Sabel Michael S et al. Annals of surgical oncology 2016 Apr
Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases.
Chen Rong et al. Nature biotechnology 2016 Apr
The Public and the Gene-Editing Revolution.
Blendon Robert J et al. The New England journal of medicine 2016 Apr 374(15) 1406-1411
Ethical and regulatory aspects of genome editing.
Kohn Donald B et al. Blood 2016 Apr
23andMe: a new two-sided data-banking market model.
Stoeklé Henri-Corto et al. BMC medical ethics 2016 17(1) 19
Genetics and genomic medicine in Mali: challenges and future perspectives.
Landouré Guida et al. Molecular genetics & genomic medicine 2016 Mar 4(2) 126-34
Heart, Lung, Blood and Sleep Diseases
Association of a Family History of Coronary Heart Disease With Initiation of Statin Therapy in Individuals at Intermediate Risk: Post Hoc Analysis of a Randomized Clinical Trial.
Safarova Maya S, et al. JAMA cardiology 2016 0 0. (3) 364-6
Current familial hypercholesterolemia diagnostic criteria underdiagnose APOB mutations: Lessons from the Amish community.
Andersen Lars et al. Journal of clinical lipidology 10(2) 443-4
Examining barriers to cascade screening for familial hypercholesterolemia in the United States.
Andersen Rolf et al. Journal of clinical lipidology 10(2) 225-7
LOWER, a registry of lomitapide-treated patients with homozygous familial hypercholesterolemia: Rationale and design.
Blom Dirk J et al. Journal of clinical lipidology 10(2) 273-82
ePhenotyping for Abdominal Aortic Aneurysm in the Electronic Medical Records and Genomics (eMERGE) Network: Algorithm Development and Konstanz Information Miner Workflow.
Borthwick Kenneth M et al. International journal of biomedical data mining 2015 Dec 4(1)
Efficacy of clinical diagnostic criteria for familial hypercholesterolemia genetic testing in Poland.
Mickiewicz Agnieszka et al. Atherosclerosis 2016 Mar 24952-58
Prevalence of heterozygous familial hypercholesterolaemia and its impact on long-term prognosis in patients with very early ST-segment elevation myocardial infarction in the era of statins.
Rallidis Loukianos S et al. Atherosclerosis 2016 Mar 24917-21
Newborn screening for cystic fibrosis.
Castellani Carlo et al. The Lancet. Respiratory medicine 2016 Apr
Improvement of medical care in a cohort of newborns with sickle-cell disease in North Paris: impact of national guidelines.
Couque Nathalie et al. British journal of haematology 2016 Apr
National G6PD neonatal screening program in Gaza Strip of Palestine: rationale, challenges and recommendations.
Sirdah Mahmoud M et al. Clinical genetics 2016 Apr
Dosing recommendations for pharmacogenetic interactions related to drug metabolism.
Filipski Kelly K et al. Pharmacogenetics and genomics 2016 Apr
Documenting Pharmacogenomic Testing with CPT Codes.
Hefti Erik et al. Journal of AHIMA / American Health Information Management Association 2016 Jan 87(1) 56-9
Leading clinical pharmacogenomics implementation: Advancing pharmacy practice.
Johnson Samuel G et al. American journal of health-system pharmacy : AJHP : official journal of the American Society of Health-System Pharmacists 2015 Aug 72(15) 1324-8
Carrier screening in the era of expanding genetic technology.
Arjunan Aishwarya et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Apr
Pros and cons of implementing a carrier genetic test in an infertility practice.
Gil-Arribas Elisa et al. Current opinion in obstetrics & gynecology 2016 Apr
Assessment of clinical application of preimplantation genetic screening on cryopreserved human blastocysts.
Liu Min et al. Reproductive biology and endocrinology : RB&E 2016 14(1) 16
Second Chinese team reports gene editing in human embryos,
by Ewen Callaway, Nature News, April 8, 2016
Thirteen Anonymous Genetic Superheroes Walk Among Us,
by Ed Young, the Atlantic, April 11, 2016
How one Colombian family could solve some of Alzheimers mysteries,
by Kenneth S. Kosik, STAT, April 12, 2016
The transformation of oncology.
Varmus Harold, et al. Science (New York, N.Y.) 2016 4 0. (6282) 123
New Scripps Study Combines DNA Testing, Sensors to Improve Parkinsons Diagnosis,
HIT Consultant, April 7, 2016
How Do 'Genetic Superheroes' Overcome Their Bad DNA?
By Rob Stein, NPR, April 11, 2016
Know Your Genes: The Role Of Genetics In Ovarian Cancer,
Huffington Post, April 13, 2016
Finding a Cure for Spinal Muscular Atrophy, the Number One Genetic Cause of Infant Death,
by Robin Lally, Rutgers News, April 11, 2016
Genomics: The Power to Predict How a gene mutation became a signal for a deadly cancer,
by Thomas James, WUSA, April 11, 2016
Genetic Superheroes Walk Among Us, But Shhh! No One Can Tell Em,
by Sarah Zhang, Wired, April 11, 2016
Cancer and Family History: Using Genomics for Prevention,
April 19, 2016, Public Health Grand Rounds, CDC
Will Precision Medicine Improve Public Health?
May 3, 2016 ~ Webinar