Published on 05/05/2016
Human Genomics across the Lifespan
Birth Defects and Child Health
-
Atlas of Human Malformation Syndromes in Diverse Populations,
NHGRI -
A Biobank for Long-term and Sustainable Research in the Field of Congenital Heart Disease in Germany.
Pickardt Thomas et al. Genomics, proteomics & bioinformatics 2016 Apr -
Validation of a Nutrition Screening Tool for Pediatric Patients with Cystic Fibrosis.
Souza Dos Santos Simon Miriam Isabel et al. Journal of the Academy of Nutrition and Dietetics 2016 May 116(5) 813-8
Cancer
-
The topography of mutational processes in breast cancer genomes.
Morganella Sandro, et al. Nature communications 2016 5 0. 11383 -
Review of the Gene-Environment Interaction Literature in Cancer: What Do We Know?
Simonds Naoko I et al. Genetic epidemiology 2016 Apr -
Section E6.5-6.8 of the ACMG technical standards and guidelines: chromosome studies of lymph node and solid tumor-acquired chromosomal abnormalities.
Cooley Linda D et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Apr -
Aiming High--Changing the Trajectory for Cancer.
Lowy Douglas R, et al. The New England journal of medicine 2016 5 0. (20) 1901-4 -
Clinical Utility of PCA3 and TMPRSS2:ERG Urinary Biomarkers in African American Men Undergoing Prostate Biopsy.
Feibus Allison H et al. The Journal of urology 2016 Apr -
Use of Cancer Genetics Services in African-American Young Breast Cancer Survivors.
Jones Tarsha et al. American journal of preventive medicine 2016 Apr -
Assessing biases of information contained in pedigrees for the classification of BRCA-genetic variants: a study arising from the ENIGMA analytical working group.
Kerkhofs C H H et al. Hereditary cancer in clinical practice 2016 1410 -
Survival in familial and non-familial breast cancer by age and stage at diagnosis.
Kharazmi Elham et al. European journal of cancer (Oxford, England : 1990) 2016 Jan 5210-8 -
Prognostic significance of cancer family history for patients with gastric cancer: a single center experience from China.
Liu Xiaowen et al. Oncotarget 2016 Apr -
Section E6.1-6.4 of the ACMG technical standards and guidelines: chromosome studies of neoplastic blood and bone marrow-acquired chromosomal abnormalities.
Mikhail Fady M et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Apr -
Race-specific genetic risk score is more accurate than nonrace-specific genetic risk score for predicting prostate cancer and high-grade diseases.
Na Rong et al. Asian journal of andrology 2016 May -
Comparative analysis of BRCA1 and BRCA2 variants of uncertain significance in patients with breast cancer: a multifactorial probability-based model versus ACMG standards and guidelines for interpreting sequence variants.
Park Kyung Sun et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Apr -
Risk of Advanced Neoplasia in First-Degree Relatives with Colorectal Cancer: A Large Multicenter Cross-Sectional Study.
Quintero Enrique et al. PLoS medicine 2016 May 13(5) e1002008 -
Efficacy of post-operative radiation in a prostatectomy cohort adjusted for clinical and genomic risk.
Ross A E et al. Prostate cancer and prostatic diseases 2016 May -
Barriers and Facilitators to Adoption of Genomic Services for Colorectal Care within the Veterans Health Administration.
Sperber Nina R et al. Journal of personalized medicine 6(2) -
Landscape of somatic mutations in 560 breast cancer whole-genome sequences.
Nik-Zainal Serena et al. Nature 2016 May
Chronic Disease
-
Rare disease gene has a key role in chronic hepatitis C infection
Science Magazine, April 30, 2016 -
ALS: Recent Developments from Genetics Studies.
Therrien Martine et al. Current neurology and neuroscience reports 2016 Jun 16(6) 59 -
Narrative review of genes, environment, and cigarettes.
Do Elizabeth et al. Annals of medicine 2016 Apr 1-15 -
Asthma Genetics in the Post-GWAS Era.
Ober Carole et al. Annals of the American Thoracic Society 2016 Mar 13 Suppl 1S85-90 -
Genetics as a molecular window into recovery, its treatment, and stress responses after stroke.
Juth Vanessa et al. Journal of investigative medicine : the official publication of the American Federation for Clinical Research 2016 Apr -
Review of Select Practice Parameters, Evidence-Based Treatment Algorithms, and International Guidelines for Hereditary Angioedema.
Jose Jaison et al. Clinical reviews in allergy & immunology 2016 Apr -
A national population-based e-cohort of people with psychosis (PsyCymru) linking prospectively ascertained phenotypically rich and genetic data to routinely collected records: overview, recruitment and linkage.
Lloyd Keith et al. Schizophrenia research 2015 Aug 166(1-3) 131-6 -
Highly accurate molecular genetic testing for HFE hereditary hemochromatosis: results from 10 years of blinded proficiency surveys by the College of American Pathologists.
Press Richard D et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Apr -
Genetic susceptibility to cerebrovascular disease.
Della-Morte David et al. Current opinion in lipidology 2016 Apr 27(2) 187-95
Ethics/Policy/Law
-
The challenge of consent in clinical genome-wide testing.
Burke Katherine et al. Archives of disease in childhood 2016 Apr
Practice
-
The over-hyping of precision medicine,
by Tan Shiow Chin, Star 2, May 1, 2016 -
Making precision medicine a reality: Genomics researchers unveil road map to disease origin,
EurekAlert, April 28, 2016 -
Applying an Implementation Science Approach to Genomic Medicine: Workshop Summary
National Academy of Medicine, Workshop Report, April 28, 2016 -
Developing and evaluating polygenic risk prediction models for stratified disease prevention.
Chatterjee Nilanjan et al. Nature reviews. Genetics 2016 May -
Information Needs in the Precision Medicine Era: How Genetics Home Reference Can Help.
Collins Heather et al. Interactive journal of medical research 2016 5(2) e13 -
Clinical genomics can facilitate countrywide estimation of autosomal recessive disease burden.
Abouelhoda Mohamed et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Apr -
Participatory Genomic Testing as an Educational Experience.
Garber Kathryn B et al. Trends in genetics : TIG 2016 Apr -
A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation.
Hunter Jessica Ezzell et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Apr -
MTHFR: Addressing Genetic Counseling Dilemmas Using Evidence-Based Literature.
Levin Brooke Levenseller et al. Journal of genetic counseling 2016 Apr -
A template for broad consent in biobank research. Results and explanation of an evidence and consensus-based development process.
Strech D et al. European journal of medical genetics 2016 Apr 59(6-7) 295-309
Heart, Lung, Blood and Sleep Diseases
-
Genetic Testing in Thoracic Aortic Disease--When, Why, and How?
Bowdin Sarah C et al. The Canadian journal of cardiology 2016 Jan 32(1) 131-4 -
Familial hypercholesterolaemia reduces the quality of life of patients not reaching treatment targets.
Mortensen Gitte Lee et al. Danish medical journal 2016 May 63(5) -
Variants with large effects on blood lipids and the role of cholesterol and triglycerides in coronary disease.
Helgadottir Anna, et al. Nature genetics 2016 0 0. (6) 634-9 -
Setting up Multiplex Panels for Genetic Testing of Familial Hypertrophic Cardiomyopathy Based on Linkage Analysis.
Saghafi Hoorieh et al. Iranian journal of public health 2016 Mar 45(3) 329-339
Newborn Screening
-
Newborn Screening for SCID: Lessons Learned.
Buelow Becky J et al. Expert review of hematology 2016 May -
The benefits of newborn screening for cystic fibrosis: The Canadian experience.
Mak D Y F et al. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2016 Apr -
Improving the Sensitivity and Positive Predictive Value in a Cystic Fibrosis Newborn Screening Program Using a Repeat Immunoreactive Trypsinogen and Genetic Analysis.
Sontag Marci K et al. The Journal of pediatrics 2016 Apr
Pharmacogenomics
-
Extracting Electronic Health Record Data in a Practice-Based Research Network: Processes to Support Translational Research across Diverse Practice Organizations.
Cole Allison M et al. EGEMS (Washington, DC) 4(2) 1206 -
How Many Patients Could Benefit From Pre-emptive Pharmacogenomic Testing and Decision Support? A Retrospective Study Based on Nationwide Austrian Claims Data.
Kuch Wolfgang et al. Studies in health technology and informatics 223253-258 -
An expanded pharmacogenomics warfarin dosing table with utility in generalised dosing guidance.
Shahabi Payman et al. Thrombosis and haemostasis 2016 Apr 116(2)
Reproductive Health
-
Non Invasive Prenatal Screening or Advanced Diagnostic Testing: Caveat Emptor.
Evans Mark I et al. American journal of obstetrics and gynecology 2016 Apr
News/ Reviews/Comments
-
The gene editor CRISPR won't fully fix sick people anytime soon. Here's why
J Kaiser, Science Magazine, May 3, 2016 -
Validation of Rapid Plasma Genotyping for Detecting EGFR and KRAS Mutations in Advanced Lung Cancer,
by Matthew Stenger, ASCO Post, April 29, 2016 -
Personalized Breast Cancer Treatment Gets Closer to Reality,
by Alexandra Sifferlin, Time, May 2, 2016 -
Breast cancer: Scientists hail 'milestone' genetic find
J Gallagher, BBC News, May 2, 2016 -
Did your aunt have cancer? Knowing could save your life.
By Theodora Ross, Washington Post, April 29, 2016 -
Editorial: Editing human genes the CRISPR way,
Chicago Tribune, April 27, 2016 -
Specific Form of CYP3A7 Gene Associated With Poor Outcomes for Patients With Several Cancer Types,
ASCO Post, March 18, 2016 -
Breast cancer study: towards personalised treatment
EMBL-EBI, May 2, 2016 -
NCI's New Genomic Platform Seeks to Enable Data Sharing for Biden's Moonshot,
by Matthew Bin Han Ong, the Cancer Letter, April 29, 2016