Published on 03/04/2021
Human Genomics across the Lifespan
Birth Defects and Child Health
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Understanding Exome Sequencing: Tips for the Pediatrician.
Narayanan Dhanya Lakshmi et al. Indian pediatrics 2021 -
Genetic contributions to autism spectrum disorder.
Havdahl A et al. Psychological medicine 2021 1-14 -
The utility of next-generation sequencing technologies in diagnosis of Mendelian mitochondrial diseases and reflections on clinical spectrum.
Kose Melis et al. Journal of pediatric endocrinology & metabolism : JPEM 2021
Cancer Genomics
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OncoTree: A Cancer Classification System for Precision Oncology.
Kundra Ritika et al. JCO clinical cancer informatics 2021 5221-230 -
Expression and prognostic impact of FZDs in pancreatic adenocarcinoma.
Li Yang et al. BMC gastroenterology 2021 21(1) 79 -
Lorlatinib in pretreated ALK- or ROS1-positive lung cancer and impact of TP53 co-mutations: results from the German early access program.
Frost Nikolaj et al. Therapeutic advances in medical oncology 2021 131758835920980558
Hereditary Cancer
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Risk-adapted starting age of breast cancer screening in women with a family history of ovarian or other cancers: A nationwide cohort study.
Mukama Trasias et al. Cancer 2021 -
Lifestyle, behavioral, and dietary risk factors in relation to mammographic breast density in women at high risk for breast cancer.
Ahern Thomas P et al. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2021 -
The role of the genetic testing industry in patient education of hereditary cancer: An observational study assessing the quality of patient education videos.
Greenberg D C et al. Gynecologic oncology 2021 -
Diagnostic criteria for constitutional mismatch repair deficiency (CMMRD): recommendations from the international consensus working group.
Aronson Melyssa et al. Journal of medical genetics 2021 -
Clinical benefit for clinical sequencing using cancer panel testing.
Nishimura Sadaaki et al. PloS one 2021 16(2) e0247090 -
Co-occurrence of germline pathogenic variants for different hereditary cancer syndromes in patients with Lynch syndrome.
Ferrer-Avargues Rosario et al. Cancer communications (London, England) 2021 -
The Value of Family History in Colorectal Screening Decisions for Oldest Old Geriatric Populations.
Miller David R et al. Cureus 2021 13(1) e12815
Ethics/Policy/Law
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My Data, My Choice? - German Patient Organizations' Attitudes towards Big Data-Driven Approaches in Personalized Medicine. An Empirical-Ethical Study.
Rauter Carolin Martina et al. Journal of medical systems 2021 45(4) 43 -
A CRISPR response to pandemics?: Exploring the ethics of genetically engineering the human immune system.
Germani Federico et al. EMBO reports 2021 e52319
Practice
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Feasibility of Embedding a Scalable, Virtually Enabled Biorepository in the Electronic Health Record for Precision Medicine.
DeMerle Kimberley M et al. JAMA network open 2021 4(2) e2037739 -
Attitudes and Practices of Australian Nephrologists Toward Implementation of Clinical Genomics.
Jayasinghe Kushani et al. Kidney international reports 2021 6(2) 272-283
Heart, Lung, Blood and Sleep Diseases
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Familial Hypercholesterolemia: A Narrative Review on Diagnosis and Management Strategies for Children and Adolescents.
Tada Hayato et al. Vascular health and risk management 2021 1759-67 -
Association between Gene Polymorphisms of T Cell Immunoglobulin Domain and Mucin Domain-3 and Risk of Asthma: A Systematic Review and Meta-analysis.
Wei Wenping et al. Iranian journal of allergy, asthma, and immunology 2021 20(1) 1-10 -
Massive data screening is a second opportunity to improve the management of patients with familial hypercholesterolemia phenotype.
Zamora Alberto et al. Clinica e investigacion en arteriosclerosis : publicacion oficial de la Sociedad Espanola de Arteriosclerosis 2021 -
Polygenic Risk Scores Predict Hypertension Onset and Cardiovascular Risk.
Vaura Felix et al. Hypertension (Dallas, Tex. : 1979) 2021 HYPERTENSIONAHA12016471 -
Treatment gaps and mortality among patients with familial hypercholesterolemia and cardiovascular disease: a 4-year follow-up study.
Shemesh Elad et al. European journal of preventive cardiology 2021 -
The management of heterozygous familial hypercholesterolaemia with high lipoprotein (a) and statin intolerance. The guidelines a mirage?
Dal Pino Beatrice et al. European journal of preventive cardiology 2021 -
Harmonizing the Collection of Clinical Data on Genetic Testing Requisition Forms to Enhance Variant Interpretation in Hypertrophic Cardiomyopathy (HCM): A Study from the ClinGen Cardiomyopathy Variant Curation Expert Panel.
Morales Ana et al. The Journal of molecular diagnostics : JMD 2021
Newborn Screening
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Economic evaluation of point of care universal newborn screening for glucose-6-Phosphate dehydrogenase deficiency in United States.
Vidavalur Ramesh et al. The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians 2021 1-9
Pharmacogenomics
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Clinical Utility of Pharmacogenomic Data Collected by a Health-System Biobank to Predict and Prevent Adverse Drug Events.
Shah Sonam N et al. Drug safety 2021 -
Impact of pretreatment dihydropyrimidine dehydrogenase genotype-guided fluoropyrimidine dosing on chemotherapy associated adverse events.
Wigle Theodore J et al. Clinical and translational science 2021 -
The Role of Pharmacogenomics in Contemporary Cardiovascular Therapy: A position statement from the European Society of Cardiology Working Group on Cardiovascular Pharmacotherapy.
Magavern E F et al. European heart journal. Cardiovascular pharmacotherapy 2021 -
Comparison of Medication Alerts from Two Commercial Applications in the USA.
Shah Sonam N et al. Drug safety 2021
Reproductive Health
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Genetic Implications in High-Risk Pregnancy and Its Outcome: A 2-year Study.
Afifi Hanan H et al. American journal of perinatology 2021 -
The Effectiveness of Next-Generation Sequencing-Based Preimplantation Genetic Testing for Balanced Translocation Couples.
Liu Hongfang et al. Cytogenetic and genome research 2021 1-9