Published on 06/01/2015
Human Genomics across the Lifespan
Birth Defects and Child Health
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Neonatal diagnosis of Down syndrome in The Netherlands: suspicion and communication with parents.
de Groot-van der Mooren M D et al. J Intellect Disabil Res 2014 Oct 58(10) 953-61 -
The impact of chromosomal microarray on clinical management: a retrospective analysis.
Henderson Lindsay B et al. Genet. Med. 2014 Sep 16(9) 657-64 -
Clinical utility gene card for: Proximal spinal muscular atrophy (SMA) - update 2015.
Rudnik-Schöneborn Sabine et al. Eur. J. Hum. Genet. 2015 May 20. -
Advances in Muscular Dystrophies.
Kang Peter B et al. JAMA Neurol 2015 May 18.
Cancer
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Broad Applicability of Nivolumab in Melanoma Regardless of BRAF Mutation Status.
Gangadhar Tara C, et al. JAMA oncology 2015 7 0. (4) 427-8 -
Committee opinion no. 634: hereditary cancer syndromes and risk assessment.
Obstet Gynecol 2015 Jun 125(6) 1538-43 -
Integrative clinical genomics of advanced prostate cancer.
Robinson Dan et al. Cell 2015 May 21. 161(5) 1215-28 -
Getting personal: Head and neck cancer management in the era of genomic medicine.
Birkeland Andrew C et al. Head Neck 2015 May 20. -
SOCIO-ETHICAL ISSUES IN PERSONALIZED MEDICINE: A SYSTEMATIC REVIEW OF ENGLISH LANGUAGE HEALTH TECHNOLOGY ASSESSMENTS OF GENE EXPRESSION PROFILING TESTS FOR BREAST CANCER PROGNOSIS.
Ali-Khan Sarah E et al. Int J Technol Assess Health Care 2015 May 20. 1-15 -
Public interest in and acceptability of the prospect of risk-stratified screening for breast and prostate cancer.
Koitsalu Marie et al. Acta Oncol 2015 May 20. 1-7 -
OncoRep: an n-of-1 reporting tool to support genome-guided treatment for breast cancer patients using RNA-sequencing.
Meißner Tobias et al. BMC Med Genomics 2015 8(1) 24 -
Family history and outcome of young patients with breast cancer in the UK (POSH study).
Eccles B K et al. Br J Surg 2015 May 20. -
Barriers Prevent Patient Access to Personalized Therapies Identified by Molecular Tumor Profiling of Gynecologic Malignancies.
Hillman R Tyler et al. J Pers Med 5(2) 165-173 -
Lung cancer in the era of precision medicine.
Politi Katerina et al. Clin. Cancer Res. 2015 May 15. 21(10) 2213-20 -
Whole-genome characterization of chemoresistant ovarian cancer.
Patch Ann-Marie, et al. Nature 2015 5 0. (7553) 489-94 -
Efficacy and Safety of Nivolumab in Patients With BRAF V600 Mutant and BRAF Wild-Type Advanced Melanoma: A Pooled Analysis of 4 Clinical Trials.
Larkin James, et al. JAMA oncology 2015 7 0. (4) 433-40 -
Trends in the Cost and Use of Targeted Cancer Therapies for the Privately Insured Nonelderly: 2001 to 2011.
Shih Ya-Chen Tina et al. J. Clin. Oncol. 2015 May 18. -
Gene-panel sequencing and the prediction of breast-cancer risk.
Easton Douglas F, et al. The New England journal of medicine 2015 6 0. (23) 2243-57
Chronic Disease
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Guidelines for presymptomatic testing for Huntington's disease: Past, present and future in France.
Clément S et al. Rev. Neurol. (Paris) 2015 May 19. -
Neurogenetics in Argentina: diagnostic yield in a personalized research based clinic.
Rodríguez-Quiroga Sergio Alejandro et al. Genet Res (Camb) 2015 97e10 -
A Detailed Family History of Myocardial Infarction and Risk of Myocardial Infarction - A Nationwide Cohort Study.
Ranthe Mattis Flyvholm et al. PLoS ONE 10(5) e0125896 -
Familial hypercholesterolaemia in children and adolescents: gaining decades of life by optimizing detection and treatment.
Wiegman Albert et al. Eur. Heart J. 2015 May 25. -
Age-related macular degeneration: genome-wide association studies to translation.
Black James R M, et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 4 0. (4) 283-9
Ethics/Policy/Law
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The FDA and genomic tests--getting regulation right.
Evans Barbara J, et al. The New England journal of medicine 2015 6 0. (23) 2258-64 -
Between personal and relational privacy: understanding the work of informed consent in cancer genetics in Brazil.
Goldim José Roberto et al. J Community Genet 2015 May 22. -
The 2014 Varsity Medical Ethics Debate: should we allow genetic information to be patented?
Metcalfe Kiloran H M et al. Philos Ethics Humanit Med 2015 May 20. 10(1) 8 -
Clinical utility of a novel urine-based gene fusion TTTY15-USP9Y in predicting prostate biopsy outcome.
Zhu Yasheng et al. Urol. Oncol. 2015 May 22. -
Timing and context: important considerations in the return of genetic results to research participants.
McBride Kate A et al. J Community Genet 2015 May 26.
Practice
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Guidelines for Audiologists on the Benefits and Limitations of Genetic Testing.
Mercer Danielle et al. Am J Audiol 2015 May 20. -
Is laboratory medicine ready for the era of personalized medicine? A survey addressed to laboratory directors of hospitals/academic schools of medicine in Europe.
Malentacchi Francesca et al. Clin. Chem. Lab. Med. 2015 Apr 17. -
Economic evidence on identifying clinically actionable findings with whole-genome sequencing: a scoping review.
Douglas Michael P et al. Genet. Med. 2015 May 21.
Newborn Screening
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Diagnosing Cystic Fibrosis in Newborn Screening in Poland - 15 years of experience.
Sands Dorota et al. Dev Period Med 19(1) 16-24 -
Diagnostic problems in cystic fibrosis - specific characteristics of a group of infants and young children diagnosed positive through neonatal screening, in whom cystic fibrosis haD not been diagnosed.
Wos Halina et al. Dev Period Med 19(1) 25-31
Reproductive Health
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Comparing genetic counselor's and patient's perceptions of needs in prenatal chromosomal microarray testing.
Walser Sarah A et al. Prenat. Diagn. 2015 May 20. -
Prenatal diagnosis of cystic fibrosis: 10-years experience.
Hadj Fredj S et al. Pathol. Biol. 2015 May 19. -
Prenatal screening for fetal aneuploidies with cell-free DNA in the general pregnancy population: a cost-effectiveness analysis.
Fairbrother Genevieve et al. J. Matern. Fetal. Neonatal. Med. 2015 May 22. 1-5 -
The improvement of the best practice guidelines for preimplantation genetic diagnosis of cystic fibrosis: toward an international consensus.
Girardet Anne, et al. European journal of human genetics : EJHG 2016 4 0. (4) 469-78 -
Look before you leap: genomic screening in obstetrics and gynecology.
Adams Michael C et al. Obstet Gynecol 2015 Jun 125(6) 1299-305
Tools/Databases
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The Lausanne Institutional Biobank: a new resource to catalyse research in personalised medicine and pharmaceutical sciences.
Mooser Vincent et al. Swiss Med Wkly 2014 144w14033
News/ Reviews/Comments
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What if?
Scottish Cancer Prevention Network Blog, May 11 -
Genes and environment balance each other,
by Tina Hesman Saey, Science News, May 26 -
Epigenetics-A New Frontier for Alcohol Research
Alcohol Alert Number 86 -
Information theory: Knowledge and know-how
Ball P, Nature 521, 420?421 (28 May 2015) -
Microbiome research heralds new era of medical diagnosis,
by Aaron Krumins, Extreme Tech, May 24 -
Targeting cystic fibrosis: Are two drugs better than one?
By Dr. Francis Collins, NIH Director' Blog, May 26 -
Diving in the gene pool: DNA, drosophila flies and adoptees' discoveries,
by Kate Nancarrow, The Age, May 25 -
Ovarian cancer-specific markers set the stage for early diagnosis, personalized treatments,
by Heather Buschman, May 25 -
The new genomic patient.
Rehmann-Sutter Christoph et al. Swiss Med Wkly 2015 145w14089