Volume 34 Number 4 January 29 - February 5, 2015
Birth Defects and Child Health
The TREAT-NMD DMD Global database: Analysis of more than 7000 Duchenne muscular dystrophy mutations
Bladen CL, et al. Hum Mutat 2015 Jan
Bladen CL, et al. Hum Mutat 2015 Jan
Cancer
Consumer familiarity, perspectives and expected value of personalized medicine with a focus on applications in oncology
Garfeld S, et al. Per Med 2015 Jan;12(1):13-22
Garfeld S, et al. Per Med 2015 Jan;12(1):13-22
Genetic counseling for hereditary breast and ovarian cancer among Puerto Rican women living in the United States
Scherr CL, et al. Rev Recent Clin Trials 2015 Jan
Scherr CL, et al. Rev Recent Clin Trials 2015 Jan
Genetic screening of patients with Medullary Thyroid Cancer (MTC) in a referral center in Greece during the past two decades
Sarika L, et al. Eur J Endocrinol 2015 Jan
Sarika L, et al. Eur J Endocrinol 2015 Jan
Prospective approach to breast cancer risk prediction in African American women: The black women's health study model
Boggs DA, et al. J Clin Oncol 2015 Jan
Boggs DA, et al. J Clin Oncol 2015 Jan
Chronic Diseases
Clinical utility gene card for: Arterial tortuosity syndrome
Albuisson J, et al. Eur J Hum Genet 2015 Jan
Albuisson J, et al. Eur J Hum Genet 2015 Jan
Clinical utility gene card for: Fibrodysplasia ossificans progressiva
Bravenboer N, et al. Eur J Hum Genet 2015 Jan
Bravenboer N, et al. Eur J Hum Genet 2015 Jan
Cognitive resilience to apolipoprotein E ε4: Contributing factors in black and white older adults
Allison R. Kaup, et al. JAMA Neurology, January 2015
Allison R. Kaup, et al. JAMA Neurology, January 2015
Current status of Huntington's disease in Korea: A nationwide survey and national registry analysis
Kim HS, et al. J Mov Disord 2015 Jan;8(1):14-20
Kim HS, et al. J Mov Disord 2015 Jan;8(1):14-20
Familial hypercholesterolemia-epidemiology, diagnosis, and screening
Singh S & Bittner V Curr Atheroscler Rep 2015 Feb;17(2):482
Singh S & Bittner V Curr Atheroscler Rep 2015 Feb;17(2):482
Joint analysis of psychiatric disorders increases accuracy of risk prediction for schizophrenia, bipolar disorder, and major depressive disorder
Robert Maier et al. AM J Human Genetics, January 29, 2015
Robert Maier et al. AM J Human Genetics, January 29, 2015
Molecular genetic testing in clinical diagnostic assessments that demonstrate correlations in patients with autosomal recessive inherited retinal dystrophy
Liu X, et al. JAMA Ophthalmol 2015 Jan
Liu X, et al. JAMA Ophthalmol 2015 Jan
Psychiatrist attitudes towards pharmacogenetic testing, direct-to-consumer genetic testing, and integrating genetic counseling into psychiatric patient care
Thompson C, et al. Psychiatry Res 2014 Dec
Thompson C, et al. Psychiatry Res 2014 Dec
Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity
Alfares AA, et al. Genet Med 2015 Jan
Alfares AA, et al. Genet Med 2015 Jan
Ethics, Policy and Law
FDA proposes tighter regulation over genetic lab tests: Federal agency cites need to improve test quality, minimize risk to patients
Am J Med Genet A 2015 Feb;167(2):viii-ix
Am J Med Genet A 2015 Feb;167(2):viii-ix
GINA, genetic discrimination, and genomic medicine
Green R, et al. N Engl J Med 2015; 372:397-399 2015 Jan 29
Green R, et al. N Engl J Med 2015; 372:397-399 2015 Jan 29
NIH's genomic data sharing policy: timing and tradeoffs
Contreras JL Trends Genet 2015 Jan
Contreras JL Trends Genet 2015 Jan
Genomics in Practice
A one-page summary report of genome sequencing for the healthy adult
Vassy J.L et al. Public Health Genomics, January 2015
Vassy J.L et al. Public Health Genomics, January 2015
A new approach to assessing affect and the emotional implications of personal genomic testing for common disease risk.
O'Neill SC, et al. Public Health Genomics. 2015 Jan 21.
O'Neill SC, et al. Public Health Genomics. 2015 Jan 21.
Are Australasian genetic counselors interested in private practice at the primary care level of health service?
Sane V, et al. J Genet Couns 2015 Jan
Sane V, et al. J Genet Couns 2015 Jan
Assessing the utility of confirmatory studies following identification of large-scale genomic imbalances by microarray.
Sanmann JN et al. Genetics in Medicine, January 15, 2015
Sanmann JN et al. Genetics in Medicine, January 15, 2015
Clinical validation of targeted next-generation sequencing for inherited disorders
Yohe S, et al. Arch Pathol Lab Med 2015 Feb;139(2):204-10
Yohe S, et al. Arch Pathol Lab Med 2015 Feb;139(2):204-10
Effects of racial and ethnic group and health literacy on responses to genomic risk information in a medically underserved population
Kaphingst KA, et al. Health Psychol 2015 Feb;34(2):101-10
Kaphingst KA, et al. Health Psychol 2015 Feb;34(2):101-10
Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects
Vrijenhoek T, et al. European Journal of Human Genetics 2015 Jan 28
Vrijenhoek T, et al. European Journal of Human Genetics 2015 Jan 28
Research participants in NGS studies want to know about incidental findings
Jelsig AM, et al. Eur J Hum Genet 2015 Jan
Jelsig AM, et al. Eur J Hum Genet 2015 Jan
Translation and validation of a Spanish-language genetic health literacy screening tool
Rodriguez SA, et al. Health Psychol 2015 Feb;34(2):120-9
Rodriguez SA, et al. Health Psychol 2015 Feb;34(2):120-9
Newborn Screening
An audit of newborn screening procedure: Impact on infants presenting clinically before results are available
Tal G, et al. Mol Genet Metab 2015 Jan
Tal G, et al. Mol Genet Metab 2015 Jan
[Neonatal screening for hemoglobinopathies in Sao Carlos, Sao Paulo, Brazil: analysis of a series of cases.]
Silva CA, et al. Rev Paul Pediatr 2015 Jan
Silva CA, et al. Rev Paul Pediatr 2015 Jan
Whole-genome sequencing in newborn screening? A statement on the continued importance of targeted approaches in newborn screening programmes
Howard H, et al. European Journal of Human Genetics 2015 Jan 28
Howard H, et al. European Journal of Human Genetics 2015 Jan 28
Pharmacogenomics
An effective strategy to prevent allopurinol-induced hypersensitivity by HLA typing
Jae-Woo Jung, et al. Genetics in Medicine, January 29, 2015
Jae-Woo Jung, et al. Genetics in Medicine, January 29, 2015
Economic evaluation of a pharmacogenetic dosing algorithm for coumarin anticoagulants in The Netherlands
Verhoef TI, et al. Pharmacogenomics 2015 Jan;16(2):101-14
Verhoef TI, et al. Pharmacogenomics 2015 Jan;16(2):101-14
Reproductive Health
Noninvasive prenatal testing for trisomy 21, 18 and 13 - clinical experience from 146,958 pregnancies.
Zhang H, et al. Ultrasound Obstet Gynecol. 2015 Jan 19.
Zhang H, et al. Ultrasound Obstet Gynecol. 2015 Jan 19.
Routine use of next-generation sequencing for preimplantation genetic diagnosis of blastomeres obtained from embryos on day 3 in fresh in vitro fertilization cycles
Lukaszuk K, et al. Fertil Steril 2015 Jan
Lukaszuk K, et al. Fertil Steril 2015 Jan
Reviews, News and Commentaries
Digital medical tools and sensors
Eric J. Topol, et al. JAMA January 27, 2015
Eric J. Topol, et al. JAMA January 27, 2015
US lawmakers seek to revamp biomedical research,
by Sara Readon, Nature News, Jan 28
When is genomic sequencing worth the cost?
By Alex Smith, KCUR.org, Jan 28
Myriad Genetics ending patent dispute on breast cancer risk testing,
by Andrew Pollack, The New York Times, Jan 27
NIH launches tool to advance Down syndrome research,
NIH News, January 27, 2015
DNA blood test gives women a new option for prenatal screening,
National Public Radio, Jan26
Can this treatment help me? There’s a statistic for that,
New York Times, Jan 26
My BRCA journey: Why fear of information imperils genetic testing,
by Meredith Salisbury, Forbes, Jan 26
Direct to consumer genetic testing—is all knowledge power?
By Margaret McCartney,
BMJ 2015; 350, 26 January 2015
BMJ 2015; 350, 26 January 2015
The potential impact of big data on medicine,
by Amy Standen , NPR News Podcast, Jan 25
Obama to request research funding for treatments tailored to patients' DNA,
by Robert Pear, The New York Times, Jan 24
Should direct-to-consumer DNA tests come with a health warning?
By Jessica Cussins, Genetic Literacy Project, Jan 23
Who should have access to your DNA?
Eric Topol, Backchannel, Jan 23
Environment, more than genetics, shapes immune system,
Emily Conover, Science News, Jan 15
Tools and Databases
Biological interpretation of genome-wide association studies using predicted gene functions.
Tune H. Pers et al. Nature Communications, January 2015
Tune H. Pers et al. Nature Communications, January 2015
DS-Connect®:
The Down Syndrome Registry
DEPICT is an integrative tool that systematically prioritizes the most likely causal genes at associated loci,
from the Broad Institute
EINVis:
A visualization tool for analyzing and exploring genetic interactions in large-scale association studies
No hay comentarios:
Publicar un comentario