Published on 04/29/2021
Human Genomics across the Lifespan
Birth Defects and Child Health
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"Is that something that should concern me?": a qualitative exploration of parent understanding of their child's genomic test results.
Watnick Dana et al. HGG advances 2021 2(2) -
Recent Advancements in the Diagnosis and Treatment of Leukodystrophies.
Bradbury Allison M et al. Seminars in pediatric neurology 2021 37100876 -
Spinal Muscular Atrophy.
Nicolau Stefan et al. Seminars in pediatric neurology 2021 37100878 -
Combining exome/genome sequencing with data repository analysis reveals novel gene-disease associations for a wide range of genetic disorders.
Bertoli-Avella Aida M et al. Genetics in medicine : official journal of the American College of Medical Genetics 2021 -
Maternal and child genetic liability for smoking and caffeine consumption and child mental health: An intergenerational genetic risk score analysis in the ALSPAC cohort.
Schellhas Laura et al. Addiction (Abingdon, England) 2021 -
Spinal muscular atrophy: state of the art and new therapeutic strategies.
Messina Sonia et al. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2021 -
Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease.
Sweeney Nathaly M et al. NPJ genomic medicine 2021 6(1) 29
Cancer Genomics
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Effect of prior therapy on tumor mutational burden in NSCLC.
Jonna Sushma et al. Translational lung cancer research 2021 10(3) 1231-1238
Hereditary Cancer
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Development and validation of a risk prediction model for high-risk adenomas at the time of first screening colonoscopy among screening aged Canadians.
Sutherland R Liam et al. Preventive medicine 2021 106563 -
Universal access to genetic counseling for women with epithelial ovarian cancer in Nova Scotia: Evaluating a new collaborative care model.
Warias Ashley et al. Journal of genetic counseling 2021 -
Endoscopic papillectomy in patients with familial adenomatous polyposis: Does one size fit all?
Singh Achintya D et al. Gastrointestinal endoscopy 2021 93(5) 1202 -
Value of a genetics clinic evaluation in identifying women at risk for hereditary breast-ovarian cancer syndrome.
Hinshaw Jesse C et al. Journal of genetic counseling 2021 -
Patient-reported anticipated barriers and benefits to sharing cancer genetic risk information with family members.
Finn Kelsey Stuttgen et al. European journal of human genetics : EJHG 2021
Chronic Disease
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How understudied populations have contributed to our understanding of Alzheimer's disease genetics.
Dehghani Nadia et al. Brain : a journal of neurology 2021
Ethics/Policy/Law
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Legal and Ethical Issues in the Report Heritable Human Genome Editing.
Cohen Glenn et al. The Hastings Center report 2021 -
Genetic discrimination views in online discussion forums: Perspectives from Canadian forumites.
Dalpé Gratien et al. Journal of genetic counseling 2021
Practice
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Healthcare providers attitudes towards risk stratification of adopted patients with limited family history information: a cross-sectional survey.
Saltzman Barbara et al. Journal of community genetics 2021 -
Recent advances and current controversies in genetic testing for personalized nutrition.
Garcia-Bailo Bibiana et al. Current opinion in clinical nutrition and metabolic care 2021 -
Physician-guided, hybrid genetic testing exerts promising effects on health-related behavior without compromising quality of life.
Schricker Severin et al. Scientific reports 2021 11(1) 8494 -
Data sharing to improve concordance in variant interpretation across laboratories: results from the Canadian Open Genetics Repository.
Mighton Chloe et al. Journal of medical genetics 2021 -
Convergence of Precision Medicine and Public Health Into Precision Public Health: Toward a Big Data Perspective.
Velmovitsky Pedro Elkind et al. Frontiers in public health 2021 9561873 -
Clinically Actionable Findings Derived From Predictive Genomic Testing Offered in a Medical Practice Setting.
Anderson Jennifer L et al. Mayo Clinic proceedings 2021 -
A Hybrid Model for Family History Information Identification and Relation Extraction: Development and Evaluation of an End-to-End Information Extraction System.
Kim Youngjun et al. JMIR medical informatics 2021 9(4) e22797 -
An Integrated Model of Nature and Nurture Factors That Contribute to Addiction and Recovery.
Green Kelly E et al. Substance use & misuse 2021 1-13
Heart, Lung, Blood and Sleep Diseases
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Assessment and management of disease burden and quality of life in patients with hereditary angioedema: a consensus report.
Bork Konrad et al. Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology 2021 17(1) 40 -
Improving the identification of patients with a genetic diagnosis of familial hypercholesterolaemia in primary care: A strategy to achieve the NHS long term plan.
Ingoe Lorna et al. Atherosclerosis 2021 32538-45 -
Plasma proprotein convertase subtilisin/kexin type 9 concentration and recurrent cardiovascular events in patients with familial hypercholesterolemia.
Cao Ye-Xuan et al. European journal of preventive cardiology 2021 28(3) 272-279 -
Clinical Implications of Monogenic Versus Polygenic Hypercholesterolemia: Long-Term Response to Treatment, Coronary Atherosclerosis Burden, and Cardiovascular Events.
D'Erasmo Laura et al. Journal of the American Heart Association 2021 e018932 -
Hematopoietic stem cell transplantation for people with β-thalassaemia.
Sharma Akshay et al. The Cochrane database of systematic reviews 2021 4CD008708
Pharmacogenomics
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How community pharmacists envision using pharmacogenomic data: A qualitative analysis.
Writer Rachel et al. Journal of the American Pharmacists Association : JAPhA 2021 -
Preferences for and acceptability of receiving pharmacogenomic results by mail: A focus group study with a primarily African-American cohort.
Chan Priscilla A et al. Journal of genetic counseling 2021 -
Pharmacogenomic education among genetic counseling training programs in North America.
Loudon Elizabeth et al. Journal of genetic counseling 2021 -
The Genetics of Response to and Side Effects of Lithium Treatment in Bipolar Disorder: Future Research Perspectives.
Senner Fanny et al. Frontiers in pharmacology 2021 12638882
Reproductive Health
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A Randomized Controlled Trial on the Effect of Standardized Video Education on Prenatal Genetic Testing Choices: Uptake of Genetic Testing.
Stortz Sharon K et al. American journal of perinatology 2021 -
The prenatal exome - a door to prenatal diagnostics?
Castleman James S et al. Expert review of molecular diagnostics 2021 -
Practice patterns of prenatal and perinatal testing in Canadian cytogenetics laboratories.
Ashfield Tamara et al. Prenatal diagnosis 2021 -
Factors associated with test failure in pregnant women undergoing cell-free DNA-based testing for fetal trisomy.
Chang Jiazhen et al. Journal of medical screening 2021 9691413211009940