Volume 35 Number 3 July 16-23, 2015
Human Genomics across the Lifespan
Birth Defects and Child Health
eHealth Services for the European Reference Network on Rare Anaemias (eENERCA).
Antoniou Z et al. Stud Health Technol Inform 2015 213153-6
Antoniou Z et al. Stud Health Technol Inform 2015 213153-6
Genetic testing for developmental disabilities, Intellectual disability, and autism spectrum disorder
Rockville (MD):Agency for Healthcare Research and Quality (US) 2015 Jun
Rockville (MD):Agency for Healthcare Research and Quality (US) 2015 Jun
Impact of a comprehensive sickle cell center on early childhood mortality in a developing country: The Jamaican experience.
King LGC et al. J. Pediatr. 2015 Jul 7.
King LGC et al. J. Pediatr. 2015 Jul 7.
Survey of the actual state of medical care of patients with Duchenne muscular dystrophy in Japan.
Matsumura T et al. Rinsho Shinkeigaku 2015 Jul 7.
Matsumura T et al. Rinsho Shinkeigaku 2015 Jul 7.
Trends in unmet need for genetic counseling among children with special health care needs, 2001-2010.
Smith AJ et al. Acad Pediatr 2015 Jul 7.
Smith AJ et al. Acad Pediatr 2015 Jul 7.
Cancer
BRCA1 and BRCA2 genetic testing - pitfalls and recommendations for managing variants of uncertain clinical significance.
Eccles D et al. Ann. Oncol. 2015 Jul 7.
Eccles D et al. Ann. Oncol. 2015 Jul 7.
MethPed: a DNA methylation classifier tool for the identification of pediatric brain tumor subtypes.
Danielsson A et al. Clin Epigenetics 2015 7(1) 62
Danielsson A et al. Clin Epigenetics 2015 7(1) 62
Prevalence and correlates of receiving and sharing high-penetrance cancer genetic test results: findings from the Health Information National Trends Survey.
Taber JM et al. Public Health Genomics 2015 18(2) 67-77
Taber JM et al. Public Health Genomics 2015 18(2) 67-77
Targeted cancer screening in average-risk individuals.
Marcus PM et al. Am J Prev Med 2015 Jul 9. (CDC Author)
Marcus PM et al. Am J Prev Med 2015 Jul 9. (CDC Author)
Understanding next generation sequencing in oncology: A guide for oncologists.
Moorcraft SY et al. Crit. Rev. Oncol. Hematol. 2015 Jun 29.
Moorcraft SY et al. Crit. Rev. Oncol. Hematol. 2015 Jun 29.
Chronic Diseases
EMQN best practice guidelines for the molecular genetic diagnosis of hereditary hemochromatosis (HH).
Porto G et al. Eur. J. Hum. Genet. 2015 Jul 8.
Porto G et al. Eur. J. Hum. Genet. 2015 Jul 8.
Type 2 diabetes mellitus screening and risk factors using decision tree: results of data mining.
Habibi S et al. Glob J Health Sci 2015 Sep 7(5) 43726
Habibi S et al. Glob J Health Sci 2015 Sep 7(5) 43726
Ethics, Policy and Law
Fair shares and sharing fairly: A survey of public views on open science, informed consent and participatory research in biobanking.
Joly Y et al. PLoS ONE 2015 10(7) e0129893
Joly Y et al. PLoS ONE 2015 10(7) e0129893
Drifting away from informed consent in the era of personalized medicine.
Parens E et al. Hastings Cent Rep 2015 Jul 45(4) 16-20
Parens E et al. Hastings Cent Rep 2015 Jul 45(4) 16-20
The Equal Employment Opportunity Commission Proposal and the Genetic Information Nondiscrimination Act.
Kerstein B et al. Genet Test Mol Biomarkers 2015 Jul 19(7) 345-346
Kerstein B et al. Genet Test Mol Biomarkers 2015 Jul 19(7) 345-346
When should genome researchers disclose misattributed parentage?
Mandava A et al. Hastings Cent Rep 2015 Jul 45(4) 28-36
Mandava A et al. Hastings Cent Rep 2015 Jul 45(4) 28-36
Genomics in Practice
A one-page summary report of genome sequencing for the healthy adult.
Vassy JL et al. Public Health Genomics 2015 18(2) 123-9
Vassy JL et al. Public Health Genomics 2015 18(2) 123-9
An exploratory study of employers' attitudes towards a clinical doctorate in genetic counseling.
Valverde K et al. J Genet Couns 2015 Jul 14.
Valverde K et al. J Genet Couns 2015 Jul 14.
Good laboratory practice for clinical next-generation sequencing informatics pipelines.
Gargis AS, et al. Nat Biotechnol. 2015 Jul 8;33(7):689-93.
Gargis AS, et al. Nat Biotechnol. 2015 Jul 8;33(7):689-93.
How to build personalized multi-omics comorbidity profiles.
Moni MA et al. Front Cell Dev Biol 2015 328
Moni MA et al. Front Cell Dev Biol 2015 328
Impact of presymptomatic genetic testing on young adults: a systematic review
Godino L, et al. European Journal of Human Genetics 2015 July 15
Godino L, et al. European Journal of Human Genetics 2015 July 15
The need to develop an evidence base for genetic counselling in Europe
McAllister M, et al. European Journal of Human Genetics 2015 July 15
McAllister M, et al. European Journal of Human Genetics 2015 July 15
Significance and reporting of incidental findings concerning family medical history.
Nurmsoo S et al. Am. J. Med. Genet. A 2015 Jul 14.
Nurmsoo S et al. Am. J. Med. Genet. A 2015 Jul 14.
Telegenetics use in presymptomatic genetic counselling: patient evaluations on satisfaction and quality of care
Otten E, et al. European Journal of Human Genetics 2015 July 15
Otten E, et al. European Journal of Human Genetics 2015 July 15
The time-consuming demands of the practice of medical genetics in the era of advanced genomic testing
Sukenik-Halevy R, et al. Genetics in Medicine (2015) Jul 16
Sukenik-Halevy R, et al. Genetics in Medicine (2015) Jul 16
Newborn Screening
Cost-effectiveness analysis of a national newborn screening program for biotinidase deficiency.
Vallejo-Torres L et al. Pediatrics 2015 Jul 13.
Vallejo-Torres L et al. Pediatrics 2015 Jul 13.
Public perceptions of the benefits and risks of newborn screening.
Miller FA et al. Pediatrics 2015 Jul 13.
Miller FA et al. Pediatrics 2015 Jul 13.
While on the way to universal newborn screening for severe combined immunodeficiency disease.
Bonagura VR et al. J Allergy Clin Immunol Pract 3(4) 592-3
Bonagura VR et al. J Allergy Clin Immunol Pract 3(4) 592-3
Reproductive Health
An economic analysis of cell-free DNA non-invasive prenatal testing in the US general pregnancy population.
Benn P et al. PLoS ONE 2015 10(7) e0132313
Benn P et al. PLoS ONE 2015 10(7) e0132313
Noninvasive prenatal testing and incidental detection of occult maternal malignancies
Bianchi DW, et al. JAMA. 2015;314(2):162-169.
Bianchi DW, et al. JAMA. 2015;314(2):162-169.
Noninvasive prenatal testing and detection of maternal cancer
Romero R, et al. JAMA. 2015;314(2):131-133.
Romero R, et al. JAMA. 2015;314(2):131-133.
Knowledge, attitude and practice of carrier thalassemia marriage volunteer in prevention of major thalassemia.
Karimzaei T et al. Glob J Health Sci 2015 Sep 7(5) 49815
Karimzaei T et al. Glob J Health Sci 2015 Sep 7(5) 49815
First-trimester combined screening for trisomy 21 in women at risk for α-thalassemia.
Zhen L et al. J. Matern. Fetal. Neonatal. Med. 2015 Jul 14. 1-11
Zhen L et al. J. Matern. Fetal. Neonatal. Med. 2015 Jul 14. 1-11
Technical update: Preimplantation genetic diagnosis and screening.
Dahdouh EM et al. J Obstet Gynaecol Can 2015 May 37(5) 451-63
Dahdouh EM et al. J Obstet Gynaecol Can 2015 May 37(5) 451-63
Reviews, News and Commentaries
Searching for the human genetic factors standing in the way of universally effective vaccines.
Mentzer AJ, et al. Philos Trans R Soc Lond B Biol Sci. 2015 Jun 19;370(1671). pii: 20140341.
Mentzer AJ, et al. Philos Trans R Soc Lond B Biol Sci. 2015 Jun 19;370(1671). pii: 20140341.
Gene therapy a potential answer for hereditary deafness, by Rebecca Burbidge, PHG Foundation, Jul 14
by Rebecca Burbidge, PHG Foundation, Jul 14Manipulating microbes: New toolbox for better health? By Dr. Francis Collins, NIH Director's Blog, Jul 14
By Dr. Francis Collins, NIH Director's Blog, Jul 14Using genomics to fight infectious diseases, Genomics Education Programme, Jul 13
Genomics Education Programme, Jul 13ACMG provides recommendations on genetic testing through the Choosing Wisely® campaign,ACMG in Action, Jul 10
ACMG in Action, Jul 10Hannah’s hair – why traits matter, by Ricki Lewis, DNA Science PLoS Blog, Jul 9
by Ricki Lewis, DNA Science PLoS Blog, Jul 9Genome researchers raise alarm over big data, by Erika Check Hayden, Nature News, Jul 7
by Erika Check Hayden, Nature News, Jul 7On a fast track, by Laura Beil, Genome, Jun 29
by Laura Beil, Genome, Jun 29
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