Published on 08/12/2015
Human Genomics across the Lifespan
Birth Defects and Child Health
Changing incidence of cystic fibrosis in Wisconsin, USA.
Parker-McGill Katelyn et al. Pediatr. Pulmonol. 2015 Aug 10.
National down syndrome patient database: Insights from the development of a multi-center registry study.
Lavigne Jenifer et al. Am. J. Med. Genet. A 2015 Aug 6.
Clinical utility gene card for: DPAGT1 defective congenital disorder of glycosylation.
Jaeken Jaak et al. Eur. J. Hum. Genet. 2015 Aug 5.
Personalized medicine and economic evaluation in oncology: all theory and no practice?
Garattini Livio et al. Expert Rev Pharmacoecon Outcomes Res 2015 Aug 9. 1-6
Incidence and Mortality of Colorectal Cancer in Individuals with a Family History of Colorectal Cancer.
Schoen Robert E et al. Gastroenterology 2015 Aug 5.
Exploration of Male Attitudes on Partnerships and Sexuality with Female BRCA1/2 Mutation Carriers.
Mauer Caitlin et al. J Genet Couns 2015 Aug 8.
The current state of cancer genetic counseling access and availability.
Knapke Sara et al. Genet. Med. 2015 Aug 6.
No Detrimental Effect of a Positive Family History on Long-Term Outcomes Following Radical Prostatectomy.
Brath Johannes M S et al. J. Urol. 2015 Jul 31.
Derivation and Validation of a Scoring System to Stratify Risk for Advanced Colorectal Neoplasia in Asymptomatic Adults: A Cross-sectional Study.
Imperiale Thomas F et al. Ann. Intern. Med. 2015 Aug 11.
Population Landscape of Familial Cancer.
Frank C et al. Sci Rep 2015 512891
A Systematic Review and Narrative Synthesis of Health Economic Studies Conducted for Hereditary Haemochromatosis.
de Graaff Barbara et al. Appl Health Econ Health Policy 2015 Aug 9.
Can patients be accurately assessed for familial hypercholesterolaemia in primary care?
Bell Damon A et al. Heart Lung Circ 2014 Dec 23(12) 1153-7
Return of genetic testing results in the era of whole-genome sequencing.
Knoppers Bartha Maria et al. Nat. Rev. Genet. 2015 Aug 4.
Chloe's Law: A Powerful Legislative Movement Challenging a Core Ethical Norm of Genetic Testing.
Caplan Arthur L et al. PLoS Biol. 2015 Aug 13(8) e1002219
Medical genetics and genomic medicine in Chile: opportunities for improvement.
Castillo Taucher Silvia et al. Mol Genet Genomic Med 2015 Jul 3(4) 243-7
Anticipation of Personal Genomics Data Enhances Interest and Learning Environment in Genomics and Molecular Biology Undergraduate Courses.
Weber K Scott et al. PLoS ONE 2015 10(8) e0133486
Emergency medical genomes: a breakthrough application of precision medicine.
Kingsmore Stephen F et al. Genome Med 2015 7(1) 82
The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities.
Chong Jessica X et al. Am. J. Hum. Genet. 2015 Aug 6. 97(2) 199-215
Genomic Testing: a Genetic Counselor's Personal Reflection on Three Years of Consenting and Testing.
Wynn Julia et al. J Genet Couns 2015 Aug 5.
An Economic Evaluation of Neonatal Screening for Inborn Errors of Metabolism Using Tandem Mass Spectrometry in Thailand.
Thiboonboon Kittiphong et al. PLoS ONE 10(8) e0134782
Cost-effectiveness of combinatorial pharmacogenomic testing for treatment-resistant major depressive disorder patients.
Hornberger John et al. Am J Manag Care 2015 21(6) e357-65
Cost-effectiveness analysis of pharmacogenetic-guided warfarin dosing in Thailand.
Chong Huey Yi et al. Thromb. Res. 2014 Dec 134(6) 1278-84
Only a minority of sex chromosome abnormalities are detected by a national prenatal screening program for Down syndrome.
Viuff Mette Hansen et al. Hum. Reprod. 2015 Aug 6.
It's complicated: criteria for policy decisions for the clinical integration of genome-scale sequencing for reproductive decision making.
Wilfond Benjamin S et al. Mol Genet Genomic Med 2015 Jul 3(4) 239-42
Recommended pre-test counseling points for noninvasive prenatal testing using cell-free DNA: a 2015 perspective.
Sachs Amy et al. Prenat. Diagn. 2015 Aug 5.
SpeedSeq: ultra-fast personal genome analysis and interpretation.
Chiang Colby et al. Nat. Methods 2015 Aug 10.
Enthusiasm for personalized medicine is premature, prominent public health scholars argue,
Medical News Today, Aug 6, 2015
NEJM perspective: Focus on precision medicine distracting from efforts seeking healthier population,
Genome Web, Aug 6, 2015 [by free subscription only]
The Angelina effect and the mixed blessing of celebrities and risk awareness,
by Hilda Bastian, PLoS Blogs, Aug 9, 2015
NIH launches website for new genomic data sharing policy,
Genome Web, Aug 10, 2015 [by free subscription only]
Centers for Mendelian Genomics uncovering the genomic basis of hundreds of rare conditions,
by Steven Benowitz, NHGRI, Aug 7, 2015
New method improves detection of causal genes,
by Rebecca Burbidge, PHG Foundation, Aug 11, 2015
Show Us What Your Genes Can Do, Teen Genes Video Challenge,
The American Society of Human Genetics, Aug 12, 2015
Obesity gene? Gene discovered that could be an important cause of obesity,
Science Daily, Aug 10, 2015
How many diseases does it take to map a SNP? Fifteen years on,
by Anne Buchanan, the Mermaid's Tale, Aug 9, 2015
Autism mutation isolated Â could be treated with specific enzyme,
by Seth Augenstein, Bioscience Technology, Aug 7, 2015
Looking at Beijing's skyline.
Jamrozy Dorota, et al. Nature reviews. Microbiology 2015 9 0. (9) 528
CDC earmarks $2.3M for NGS, bioinformatic approaches to combat infectious disease,
Genome Web, Aug 7, 2015 [by free subscription only]