Published on 09/09/2021
Human Genomics across the Lifespan
Birth Defects and Child Health
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Gene therapy for neuromuscular disorders: prospects and ethics.
Ryan Monique M et al. Archives of disease in childhood 2021 -
Mucopolysaccharidosis Type I Disease Prevalence Among Patients With Idiopathic Short Stature in Saudi Arabia: Protocol for a Multicenter Cross-sectional Study.
Alsafadi Danyah et al. JMIR research protocols 2021 10(8) e28619
Cancer Genomics
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Cytogenetic and molecular abnormalities in Waldenström's macroglobulinemia patients: correlations and prognostic impact.
Krzisch Daphné et al. American journal of hematology 2021 -
Real-world association of HER2/ERBB2 concordance with trastuzumab clinical benefit in advanced esophagogastric cancer.
Stein Stacey M et al. Future oncology (London, England) 2021 -
Phase 2 study of dabrafenib plus trametinib in patients with BRAF V600E-mutant metastatic non-small cell lung cancer: Updated 5-year survival rates and genomic analysis.
Planchard David et al. Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer 2021
Hereditary Cancer
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Prostate Cancer Risk Calculators for Healthy Populations: Systematic Review.
Bandala-Jacques Antonio et al. JMIR cancer 2021 7(3) e30430 -
Risk-stratified strategies in population screening for colorectal cancer.
Lansdorp-Vogelaar Iris et al. International journal of cancer 2021 -
Evaluation of a patient decision aid for BRCA1/2 pathogenic variant carriers choosing an ovarian cancer prevention strategy.
Steenbeek Miranda P et al. Gynecologic oncology 2021 -
Information needs on breast cancer genetic and non-genetic risk factors in relatives of women with a BRCA1/2 or PALB2 pathogenic variant.
Brédart Anne et al. Breast (Edinburgh, Scotland) 2021 6038-44 -
Population or family history based BRCA gene tests of breast cancer? A systematic review of economic evaluations.
Meshkani Zahra et al. Hereditary cancer in clinical practice 2021 19(1) 35
Chronic Disease
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The sex-specific influence of FTO genotype on exercise intervention for weight loss in adult with obesity.
Wang Weimin et al. European journal of sport science 2021 1-17
Practice
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Diagnostic yield and recognized barriers of an adult neurogenetics clinic.
Peleg Amir et al. Journal of community genetics 2021 -
Post Graduate Education: Is Genomics Included on Board Certification Exams?
Ayoubieh Houriya et al. Medical science educator 2021 30(4) 1379-1382 -
Increasing Genomic Literacy Through National Genomic Projects.
Zimani Ana Nyasha et al. Frontiers in genetics 2021 12693253 -
Effect of Superstitious Beliefs and Risk Intuitions on Genetic Test Decisions.
Riley Kristen E et al. Medical decision making : an international journal of the Society for Medical Decision Making 2021 272989X211029272
Heart, Lung, Blood and Sleep Diseases
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Sex Differences in Hypertrophic Cardiomyopathy: Interaction With Genetics and Environment.
Butters Alexandra et al. Current heart failure reports 2021 -
Implications of new clinical practice guidance on familial hypercholesterolaemia for Australian general practitioners.
Brett Tom et al. Australian journal of general practice 2021 50(9) 616-621 -
Aortic root aortopathy in bicuspid aortic valve associated with high genetic risk.
Ma Mingjia et al. BMC cardiovascular disorders 2021 21(1) 413 -
Utility of Genetically Predicted Lp(a) (Lipoprotein [a]) and ApoB Levels for Cardiovascular Risk Assessment.
Wu Haoyu et al. Circulation. Genomic and precision medicine 2021 CIRCGEN121003312 -
Estimating the Population Benefits of Blood Pressure Lowering: A Wide-Angled Mendelian Randomization Study in UK Biobank.
Higgins Hannah et al. Journal of the American Heart Association 2021 e021098 -
The importance of cascade genetic screening for diagnosing autosomal dominant hypercholesterolemia: Results from twenty years of a national screening program in Norway.
Leren Trond P et al. Journal of clinical lipidology 2021 -
Quality of Life and Related Paraclinical Factors in Iranian Patients with Transfusion-Dependent Thalassemia.
Khodashenas Mehran et al. Journal of environmental and public health 2021 20212849163 -
Relation of Serum Lipoprotein(a) Levels to Lipoprotein and Apolipoprotein Profiles and Atherosclerotic Diseases in Japanese Patients with Heterozygous Familial Hypercholesterolemia: Familial Hypercholesterolemia Expert Forum (FAME) Study.
Naito Ryo et al. Journal of atherosclerosis and thrombosis 2021 -
Pregnancy in cystic fibrosis: Review of the literature and expert recommendations.
Jain Raksha et al. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2021 -
Predictive Accuracy of a Clinical and Genetic Risk Model for Atrial Fibrillation.
Khurshid Shaan et al. Circulation. Genomic and precision medicine 2021 CIRCGEN121003355 -
Familial Hypercholesterolemia, Familial Combined Hyperlipidemia and Elevated Lipoprotein(a) in Patients with Premature Coronary Artery Disease.
Vikulova Diana N et al. The Canadian journal of cardiology 2021
Pharmacogenomics
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Nicotine metabolism predicted by CYP2A6 genotypes in relation to smoking cessation: A systematic review.
Jones Stephanie K et al. Nicotine & tobacco research : official journal of the Society for Research on Nicotine and Tobacco 2021 -
Predicting range of initial warfarin dose based on pharmacometabolomic and genetic inputs.
Huang Qing et al. Clinical pharmacology and therapeutics 2021 -
Applications for pharmacogenomics in pharmacy practice: A scoping review.
Hayashi Meagan et al. Research in social & administrative pharmacy : RSAP 2021 -
Creation of a pharmacogenomics patient portal complementary to an existing institutional provider-facing clinical decision support system.
Lipschultz Elizabeth et al. JAMIA open 2021 4(3) ooab067 -
Impact of genetic variation in CYP2C19, CYP2D6, and CYP3A4 on oxycodone and its metabolites in a large database of clinical urine drug tests.
Zhu Guang-Dan et al. The pharmacogenomics journal 2021 -
Challenges in Cardiovascular Pharmacogenomics Implementation: A viewpoint from the European Society of Cardiology Working Group on Cardiovascular Pharmacotherapy.
Magavern E F et al. European heart journal. Cardiovascular pharmacotherapy 2021
Reproductive Health
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Preconception leukocyte telomere length and pregnancy outcomes among women with demonstrated fecundity.
Purdue-Smithe Alexandra C et al. Human reproduction (Oxford, England) 2021 -
A qualitative study on the experiences of haemophilia carriers before, during and after pregnancy.
Punt Marieke C et al. Haemophilia : the official journal of the World Federation of Hemophilia 2021