Volume 35 Number 7 August 12-20, 2015
Birth Defects and Child Health
Canadian hereditary angioedema guideline.
Betschel S et al. Allergy Asthma Clin Immunol 2014 10(1) 50
Betschel S et al. Allergy Asthma Clin Immunol 2014 10(1) 50
Changing incidence of cystic fibrosis in Wisconsin, USA.
Parker-McGill K et al. Pediatr. Pulmonol. 2015 Aug 10.
Parker-McGill K et al. Pediatr. Pulmonol. 2015 Aug 10.
Clinical utility gene card for: DPAGT1 defective congenital disorder of glycosylation.
Jaeken J et al. Eur. J. Hum. Genet. 2015 Aug 5.
Jaeken J et al. Eur. J. Hum. Genet. 2015 Aug 5.
National Down syndrome patient database: Insights from the development of a multi-center registry study.
Lavigne J et al. Am. J. Med. Genet. A 2015 Aug 6.
Lavigne J et al. Am. J. Med. Genet. A 2015 Aug 6.
Cancer
Derivation and validation of a scoring system to stratify risk for advanced colorectal neoplasia in asymptomatic adults: A cross-sectional study.
Imperiale TF et al. Ann. Intern. Med. 2015 Aug 11.
Imperiale TF et al. Ann. Intern. Med. 2015 Aug 11.
Exploration of male attitudes on partnerships and sexuality with female BRCA1/2 mutation carriers.
Mauer C et al. J Genet Couns 2015 Aug 8.
Mauer C et al. J Genet Couns 2015 Aug 8.
Incidence and mortality of colorectal cancer in individuals with a family history of colorectal cancer.
Schoen RE et al. Gastroenterology 2015 Aug 5.
Schoen RE et al. Gastroenterology 2015 Aug 5.
No detrimental effect of a positive family history on long-term outcomes following radical prostatectomy.
Brath JM S et al. J. Urol. 2015 Jul 31.
Brath JM S et al. J. Urol. 2015 Jul 31.
Personalized medicine and economic evaluation in oncology: all theory and no practice?
Garattini L et al. Expert Rev Pharmacoecon Outcomes Res 2015 Aug 9. 1-6
Garattini L et al. Expert Rev Pharmacoecon Outcomes Res 2015 Aug 9. 1-6
Population landscape of familial cancer.
Frank C et al. Sci Rep 2015 512891
Frank C et al. Sci Rep 2015 512891
The current state of cancer genetic counseling access and availability.
Knapke S et al. Genet. Med. 2015 Aug 6.
Knapke S et al. Genet. Med. 2015 Aug 6.
Chronic Diseases
A systematic review and narrative synthesis of health economic studies conducted for hereditary haemochromatosis.
de Graaff B et al. Appl Health Econ Health Policy 2015 Aug 9.
de Graaff B et al. Appl Health Econ Health Policy 2015 Aug 9.
Can patients be accurately assessed for familial hypercholesterolaemia in primary care?
Bell DA et al. Heart Lung Circ 2014 Dec 23(12) 1153-7
Bell DA et al. Heart Lung Circ 2014 Dec 23(12) 1153-7
Ethics, Policy and Law
Chloe's law: A powerful legislative movement challenging a core ethical norm of genetic testing.
Caplan AL et al. PLoS Biol. 2015 Aug 13(8) e1002219
Caplan AL et al. PLoS Biol. 2015 Aug 13(8) e1002219
Return of genetic testing results in the era of whole-genome sequencing.
Knoppers BM et al. Nat. Rev. Genet. 2015 Aug 4.
Knoppers BM et al. Nat. Rev. Genet. 2015 Aug 4.
Genomics in Practice
Anticipation of personal genomics data enhances interest and learning environment in genomics and molecular biology undergraduate courses.
Weber KS et al. PLoS ONE 2015 10(8) e0133486
Weber KS et al. PLoS ONE 2015 10(8) e0133486
Emergency medical genomes: a breakthrough application of precision medicine.
Kingsmore SF et al. Genome Med 2015 7(1) 82
Kingsmore SF et al. Genome Med 2015 7(1) 82
Genomic testing: a genetic counselor's personal reflection on three years of consenting and testing.
Wynn J et al. J Genet Couns 2015 Aug 5.
Wynn J et al. J Genet Couns 2015 Aug 5.
Medical genetics and genomic medicine in Chile: opportunities for improvement.
Castillo TS et al. Mol Genet Genomic Med 2015 Jul 3(4) 243-7
Castillo TS et al. Mol Genet Genomic Med 2015 Jul 3(4) 243-7
The future of genomic medicine education in Africa.
Siwo GH et al. Genome Med 2015 7(1) 47
Siwo GH et al. Genome Med 2015 7(1) 47
The genetic basis of Mendelian phenotypes: discoveries, challenges, and opportunities.
Chong JX et al. Am. J. Hum. Genet. 2015 Aug 6. 97(2) 199-215
Chong JX et al. Am. J. Hum. Genet. 2015 Aug 6. 97(2) 199-215
Centers for Mendelian Genomics uncovering the genomic basis of hundreds of rare conditions, by Steven Benowitz, NHGRI, Aug 7
by Steven Benowitz, NHGRI, Aug 7Newborn Screening
An economic evaluation of neonatal screening for inborn errors of metabolism using tandem mass spectrometry in Thailand.
Thiboonboon K et al. PLoS ONE 10(8) e0134782
Thiboonboon K et al. PLoS ONE 10(8) e0134782
Pharmacogenomics
Cost-effectiveness analysis of pharmacogenetic-guided warfarin dosing in Thailand.
Chong HY et al. Thromb. Res. 2014 Dec 134(6) 1278-84
Chong HY et al. Thromb. Res. 2014 Dec 134(6) 1278-84
Cost-effectiveness of combinatorial pharmacogenomic testing for treatment-resistant major depressive disorder patients.
Hornberger J et al. Am J Manag Care 2015 21(6) e357-65
Hornberger J et al. Am J Manag Care 2015 21(6) e357-65
Reproductive Health
It's complicated: criteria for policy decisions for the clinical integration of genome-scale sequencing for reproductive decision making.
Wilfond BS et al. Mol Genet Genomic Med 2015 Jul 3(4) 239-42
Wilfond BS et al. Mol Genet Genomic Med 2015 Jul 3(4) 239-42
Only a minority of sex chromosome abnormalities are detected by a national prenatal screening program for Down syndrome.
Viuff MH et al. Hum. Reprod. 2015 Aug 6.
Viuff MH et al. Hum. Reprod. 2015 Aug 6.
Recommended pre-test counseling points for noninvasive prenatal testing using cell-free DNA: a 2015 perspective.
Sachs A et al. Prenat. Diagn. 2015 Aug 5.
Sachs A et al. Prenat. Diagn. 2015 Aug 5.
Reviews, News and Commentaries
Genome watch: Looking at Beijing's skyline
Jamrozy D, et al. Nature Reviews Microbiology (2015) August 10
Jamrozy D, et al. Nature Reviews Microbiology (2015) August 10
Show us what your genes can do, teen genes video challenge, The American Society of Human Genetics, Aug 12
The American Society of Human Genetics, Aug 12New method improves detection of causal genes, by Rebecca Burbidge, PHG Foundation, Aug 11
by Rebecca Burbidge, PHG Foundation, Aug 11NIH launches website for new genomic data sharing policy, Genome Web, Aug 10 [by free subscription only]
Genome Web, Aug 10 [by free subscription only]The growing importance of genomics for rare disease, Genomics Education Programme, Aug 10
Genomics Education Programme, Aug 10How many diseases does it take to map a SNP? Fifteen years on, by Anne Buchanan, the Mermaid's Tale, Aug 9
by Anne Buchanan, the Mermaid's Tale, Aug 9The Angelina effect and the mixed blessing of celebrities and risk awareness, by Hilda Bastian, PLoS Blogs, Aug 9
by Hilda Bastian, PLoS Blogs, Aug 9Air Force embarks on genomic medicine with phase II of study, Air Force Medical Service, Aug 8
Air Force Medical Service, Aug 8Autism mutation isolated - could be treated with specific enzyme, by Seth Augenstein, Bioscience Technology, Aug 7
by Seth Augenstein, Bioscience Technology, Aug 7Enthusiasm for personalized medicine is premature, prominent public health scholars argue,Medical News Today, Aug 6
Medical News Today, Aug 6Public health in the precision-medicine era
Bayer R et al, NEJM, August 6, 2015
Bayer R et al, NEJM, August 6, 2015
NEJM perspective: Focus on precision medicine distracting from efforts seeking healthier population, Genome Web, Aug 6 [by free subscription only]
Genome Web, Aug 6 [by free subscription only]Tools and Databases
SpeedSeq: ultra-fast personal genome analysis and interpretation.
Chiang C et al. Nat. Methods 2015 Aug 10.
Chiang C et al. Nat. Methods 2015 Aug 10.
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