Published on 06/06/2019
Human Genomics across the Lifespan
Birth Defects and Child Health
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Parents' Use of Internal State Language with Toddlers at High and Low Genetic Risk for Autism Spectrum Disorder.
Campbell Susan B et al. Journal of autism and developmental disorders 2019 Apr 49(4) 1366-1377 -
Importance of patient selection criteria in determining diagnostic copy number variations in patients with multiple congenital anomaly/mental retardation.
Altiner Sule et al. Molecular cytogenetics 2019 1223
Cancer
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Genetic polymorphism and carbonic anhydrase 9 expression can predict nodal metastatic prostate cancer risk in patients with prostate-specific antigen levels ≤10 ng/ml at initial biopsy.
Lin Chia-Yen et al. Urologic oncology 2019 May -
A simple immunohistochemical bio-profile incorporating Bcl2 curbs those cases of invasive breast carcinoma for which an Oncotype Dx characterization is needed.
Ceccarelli Claudio et al. PloS one 2019 14(6) e0217937 -
Development and validation of an immune-related gene pairs signature in colorectal cancer.
Wu Jianping et al. Oncoimmunology 2019 8(7) 1596715 -
Identification of a six-gene signature predicting overall survival for hepatocellular carcinoma.
Liu Gao-Min et al. Cancer cell international 2019 19138 -
Women's perception, attitudes, and intended behavior towards predictive epigenetic risk testing for female cancers in 5 European countries: a cross-sectional online survey.
Wegwarth Odette et al. BMC public health 2019 May 19(1) 667 -
Long-Term Outcomes and Aggressiveness of Hereditary Medullary Thyroid Carcinoma: 40 Years of Experience at One Center.
Raue Friedhelm et al. The Journal of clinical endocrinology and metabolism 2019 May -
Circulating Tumor DNA as a Clinical Test in Resected Pancreatic Cancer.
Groot Vincent P et al. Clinical cancer research : an official journal of the American Association for Cancer Research 2019 May -
Use of Biomarkers to Guide Decisions on Adjuvant Systemic Therapy for Women With Early-Stage Invasive Breast Cancer: ASCO Clinical Practice Guideline Update-Integration of Results From TAILORx.
Andre Fabrice et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2019 May JCO1900945 -
Impact of 21-Gene Breast Cancer Assay on Treatment Decision for Patients with T1-T3, N0-N1, Estrogen Receptor-Positive/Human Epidermal Growth Receptor 2-Negative Breast Cancer: Final Results of the Prospective Multicenter ROXANE Study.
Dieci Maria Vittoria et al. The oncologist 2019 May -
Universal endometrial cancer tumor typing: How much has immunohistochemistry, microsatellite instability, and MLH1 methylation improved the diagnosis of Lynch syndrome across the population?
Kahn Ryan M et al. Cancer 2019 May -
Estrogen Receptor Status Oppositely Modifies Breast Cancer Prognosis in BRCA1/BRCA2 Mutation Carriers Versus Non-Carriers.
Vocka Michal et al. Cancers 2019 May 11(6) -
OncotypeDX Recurrence Score Does Not Predict Nodal Burden in Clinically Node Negative Breast Cancer Patients.
Tevis S E et al. Annals of surgical oncology 2019 Mar 26(3) 815-820 -
Effectiveness of a genetic test panel designed for gynecological cancer: an exploratory study.
Ida Koichi et al. Medical oncology (Northwood, London, England) 2019 May 36(7) 62 -
Nomogram update based on TAILORx clinical trial results - Oncotype DX breast cancer recurrence score can be predicted using clinicopathologic data.
Orucevic Amila et al. Breast (Edinburgh, Scotland) 2019 May 46116-125
Chronic Disease
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Patient Knowledge and Attitudes towards Genetic Testing in Parkinson's Disease Subjects with Deep Brain Stimulation.
Fraint Avram et al. Parkinson's disease 2019 20193494609 -
A Focus Group Study on African American Living Donors' Treatment Preferences, Sociocultural Factors, and Health Beliefs About Apolipoprotein L1 Genetic Testing.
Gordon Elisa J et al. Progress in transplantation (Aliso Viejo, Calif.) 2019 May 1526924819854485 -
Genetic characterization of suspected MODY patients in Tunisia by targeted next-generation sequencing.
Dallali Hamza et al. Acta diabetologica 2019 May 56(5) 515-523
Ethics/Policy/Law
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Are we ready for genome editing in human embryos for clinical purposes?
Harper Joyce C et al. European journal of medical genetics 2019 May 103682
Practice
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Psychosocial and clinical factors of probands impacting intrafamilial disclosure and uptake of genetic testing among 103 French families with BRCA1/2 or MMR gene mutations.
Alegre Nathalie et al. Psycho-oncology 2019 Jun -
Primary Care Physicians' Knowledge, Attitudes, and Experience with Personal Genetic Testing.
Haga Susanne B et al. Journal of personalized medicine 2019 May 9(2)
Heart, Lung, Blood and Sleep Diseases
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Genetic basis of hypertrophic cardiomyopathy in children.
Rupp Stefan et al. Clinical research in cardiology : official journal of the German Cardiac Society 2019 Mar 108(3) 282-289 -
Personalized Interpretation and Clinical Translation of Genetic Variants Associated With Cardiomyopathies.
Campuzano Oscar et al. Frontiers in genetics 2019 10450 -
Discriminatory Molecular Biomarkers of Allergic and Nonallergic Asthma and Its Severity.
Baos Selene et al. Frontiers in immunology 2019 101051 -
2018 Cholesterol Clinical Practice Guidelines: Synopsis of the 2018 American Heart Association/American College of Cardiology/Multisociety Cholesterol Guideline.
Grundy Scott M et al. Annals of internal medicine 2019 May -
The role of genetics in cardiovascular risk reduction: Findings from a single lipid clinic and review of the literature.
Benes Lane B et al. Cardiovascular revascularization medicine : including molecular interventions 2019 May -
The carrier state for sickle cell disease is not completely harmless.
Xu Julia Zhe et al. Haematologica 2019 Jun 104(6) 1106-1111 -
Prevalence and Treatment of Familial Hypercholesterolemia in France.
Bérard Emilie et al. The Canadian journal of cardiology 2019 Jun 35(6) 744-752 -
CE: Understanding the Complications of Sickle Cell Disease.
Tanabe Paula et al. The American journal of nursing 2019 Jun 119(6) 26-35 -
Comparison of long-term outcomes of young patients after a coronary event associated with familial hypercholesterolemia.
Wang Xu et al. Lipids in health and disease 2019 Jun 18(1) 131 -
A validation study of the European Society of Cardiology guidelines for risk stratification of sudden cardiac death in childhood hypertrophic cardiomyopathy.
Norrish Gabrielle et al. Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology 2019 Jun -
Monogenic, polygenic, and oligogenic familial hypercholesterolemia.
Tada Hayato et al. Current opinion in lipidology 2019 May
Newborn Screening
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Attitudes of Australian health professionals towards rapid genomic testing in neonatal and paediatric intensive care.
Stark Zornitza et al. European journal of human genetics : EJHG 2019 May -
Newborn screening for sickle cell disease: an innovative pilot program to improve child survival in Dar es Salaam, Tanzania.
Nkya Siana et al. International health 2019 May -
Using research priority-setting to guide bridging the implementation gap in countries - a case study of the Uganda newborn research priorities in the SDG era.
Waiswa Peter et al. Health research policy and systems 2019 May 17(1) 54
Pharmacogenomics
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Pharmacogenetic-Based Interactions between Nutraceuticals and Angiogenesis Inhibitors.
Di Francia Raffaele et al. Cells 2019 May 8(6) -
Regulatory sciences and translational pharmacogenetics: amitriptyline as a case in point.
Mifsud Buhagiar Luana et al. Drug metabolism and personalized therapy 2019 May -
Implementation and Obstacles of Pharmacogenetics in Clinical Practice: An International Survey.
Abou Diwan E et al. British journal of clinical pharmacology 2019 May -
Pharmacist-Initiated Pre-Emptive Pharmacogenetic Panel Testing with Clinical Decision Support in Primary Care: Record of PGx Results and Real-World Impact.
van der Wouden Cathelijne H et al. Genes 2019 May 10(6) -
Twenty years of Lithium pharmacogenetics: A systematic review.
Pagani R et al. Psychiatry research 2019 May 27842-50 -
Cost-effectiveness of screening for HLA-B*1502 prior to initiation of carbamazepine in epilepsy patients of Asian ancestry in the United States.
Choi Hyunmi et al. Epilepsia 2019 Jun -
Personalizing dosing of risperidone, paliperidone and clozapine using therapeutic drug monitoring and pharmacogenetics.
de Leon Jose et al. Neuropharmacology 2019 May
Reproductive Health
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Theory and practice of preimplantation genetic screening (PGS).
Schmutzler Andreas G et al. European journal of medical genetics 2019 May 103670 -
Multiple displacement amplification as the first step can increase the diagnostic efficiency of preimplantation genetic testing for monogenic disease for β-thalassemia.
Fu Yu et al. The journal of obstetrics and gynaecology research 2019 May
Eventr
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Leveraging Artificial Intelligence and Machine Learning to Advance Environmental Health Research and Decisions
The National Academies of Sciences, Engineering, and Medicine Workshop June 6-7, 2019 ~ Washington, DC