Published on 06/06/2019
Human Genomics across the Lifespan
Birth Defects and Child Health
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
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
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
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
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
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
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
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
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
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