Published on 08/15/2019
Human Genomics across the Lifespan
Birth Defects and Child Health
Examining the Importance of Family History in Pediatric Behavioural Referrals.
Gander Sarah et al. Cureus 2019 May 11(5) e4790
Family communication following a diagnosis of myotonic dystrophy: To tell or not to tell?
Taylor Shelby et al. Journal of genetic counseling 2019 Aug
Genomic medicine for undiagnosed diseases.
Wise Anastasia L et al. Lancet (London, England) 2019 Aug 394(10197) 533-540
Identification and Clinical Validation of a Novel 4 Gene-Signature with Prognostic Utility in Colorectal Cancer.
Ahluwalia Pankaj et al. International journal of molecular sciences 2019 Aug 20(15)
Oncologist uptake of comprehensive genomic profile guided targeted therapy.
Nesline Mary K et al. Oncotarget 2019 Jul 10(45) 4616-4629
Barriers to the utilization of genetic testing and genetic counseling in patients with suspected hereditary breast and ovarian cancers.
Swink Alicia et al. Proceedings (Baylor University. Medical Center) 2019 Jul 32(3) 340-344
Concomitant Genetic Alterations are Associated with Worse Clinical Outcome in EGFR Mutant NSCLC Patients Treated with Tyrosine Kinase Inhibitors.
Chang Shih-Chieh et al. Translational oncology 2019 Aug 12(11) 1425-1431
Detection of TP53 and PIK3CA Mutations in Circulating Tumor DNA Using Next-Generation Sequencing in the Screening Process for Early Breast Cancer Diagnosis.
Rodriguez Begona Jimenez et al. Journal of clinical medicine 2019 Aug 8(8)
Tumour characteristics provide evidence for germline mismatch repair missense variant pathogenicity.
Li Shuwei et al. Journal of medical genetics 2019 Aug
Clinical exome sequencing vs. usual care for hereditary colorectal cancer diagnosis: A pilot comparative effectiveness study.
Niu Xin et al. Contemporary clinical trials 2019 Aug 105820
Urinary DNA methylation biomarkers for prediction of prostate cancer upgrading and upstaging.
Bakavicius Arnas et al. Clinical epigenetics 2019 Aug 11(1) 115
Gastrointestinal stromal tumours (GISTs): French Intergroup Clinical Practice Guidelines for diagnosis, treatments and follow-up (SNFGE, FFCD, GERCOR, UNICANCER, SFCD, SFED, SFRO).
Landi Bruno et al. Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver 2019 Aug
Benefits, harms and cost-effectiveness of cancer screening in Australia: an overview of modelling estimates.
Lew Jie-Bin et al. Public health research & practice 2019 Jul 29(2)
Cancer screening in Australia: future directions in melanoma, Lynch syndrome, and liver, lung and prostate cancers.
Weber Marianne F et al. Public health research & practice 2019 Jul 29(2)
Assessment of significant procedures in multigene molecular detection for breast cancer in clinical laboratories: from variant detection to targeted therapy.
Zhang Rui et al. Breast cancer (Tokyo, Japan) 2019 Aug
Designing gene panels for tumor mutational burden estimation: the need to shift from 'correlation' to 'accuracy'.
Wu Hao-Xiang et al. Journal for immunotherapy of cancer 2019 Aug 7(1) 206
Feasibility of circulating tumor DNA testing in hepatocellular carcinoma.
Mody Kabir et al. Journal of gastrointestinal oncology 2019 Aug 10(4) 745-750
Global celebrities' effect on health awareness among Jordanians: A study using the case of Angelina Jolie.
Al-Hussaini Maysa et al. Journal of genetic counseling 2019 Aug
Comprehensive evaluation of a prospective Australian patient cohort with suspected genetic kidney disease undergoing clinical genomic testing: a study protocol.
Jayasinghe Kushani et al. BMJ open 2019 Aug 9(8) e029541
Exploring the Role of Shared Decision Making in the Consent Process for Pediatric Genomics Research in Cameroon, Tanzania, and Ghana.
Bukini Daima et al. AJOB empirical bioethics 10(3) 182-189
What is in a Name? Parent, Professional and Policy-Maker Conceptions of Consent-Related Language in the Context of Newborn Screening.
Nicholls Stuart G et al. Public health ethics 2019 Jul 12(2) 158-175
Advocacy and actions to address disparities in access to genomic health care: A report on a National Academies workshop.
Williams Janet K et al. Nursing outlook 2019 Jun
Genotype-by-environment interactions inferred from genetic effects on phenotypic variability in the UK Biobank.
Wang Huanwei, et al. Science advances 2019 8 0. (8) eaaw3538
Opportunities, resources, and techniques for implementing genomics in clinical care.
Manolio Teri A et al. Lancet (London, England) 2019 Aug 394(10197) 511-520
Family health history: underused for actionable risk assessment.
Ginsburg Geoffrey S et al. Lancet (London, England) 2019 Aug
Heart, Lung, Blood and Sleep Diseases
Genetic testing for aortopathies: primer for the nongeneticist.
De Backer Julie et al. Current opinion in cardiology 2019 Aug
Adherence to Quality of Care Indicators and Location of Sickle Cell Care Within Indiana.
Meier Emily Riehm et al. Journal of community health 2019 Aug
Cardiac Evaluation of Children With a Family History of Sudden Death.
Webster Gregory et al. Journal of the American College of Cardiology 2019 Aug 74(6) 759-770
Genetic Testing for Thrombophilia-Related Genes: Observations of Testing Patterns for Factor V Leiden (G1691A) and Prothrombin Gene "Mutation" (G20210A).
Favaloro Emmanuel J et al. Seminars in thrombosis and hemostasis 2019 Aug
Pharmacogenomic Biomarkers in Docetaxel Treatment of Prostate Cancer: From Discovery to Implementation.
Varnai Reka et al. Genes 2019 Aug 10(8)
Characterization of Reference Materials for Genetic Testing of CYP2D6 Alleles A GeT-RM Collaborative Project.
Gaedigk Andrea et al. The Journal of molecular diagnostics : JMD 2019 Aug
Results and challenges of Cytochrome P450 2D6 (CYP2D6) testing in an ethnically diverse South Florida population.
Salyakina Daria et al. Molecular genetics & genomic medicine 2019 Aug e922
Pharmacogenomic Testing: Clinical Evidence and Implementation Challenges.
Hippman Catriona et al. Journal of personalized medicine 2019 Aug 9(3)
Optimized combination of multiple biomarkers to improve diagnostic accuracy in male fertility.
Park Yoo-Jin et al. Theriogenology 2019 Aug 139106-112
Pregnant women with confirmed neoplasms should not have non-invasive prenatal testing.
Lenaerts Liesbeth et al. Prenatal diagnosis 2019 Aug