Published on 10/21/2021
Human Genomics across the Lifespan
Birth Defects and Child Health
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Budget Impact Analysis of an Epigenetic Test Used for Diagnosing Fetal Alcohol Spectrum Disorder from the Perspective of a Laboratory Budget Holder in Manitoba, Canada.
Berrigan Patrick et al. PharmacoEconomics - open 2021 -
Social determinants of health and primary immunodeficiency.
Schejter Dr Yael Dinur et al. Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology 2021 -
Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia.
Scocchia Alicia et al. Orphanet journal of rare diseases 2021 16(1) 412 -
Deep Learning-Based Analysis of Face Images as a Screening Tool for Genetic Syndromes.
Geremek Maciej et al. Sensors (Basel, Switzerland) 2021 21(19) -
A retrospective analysis of diagnostic testing in a large North American cohort of patients with epidermolysis bullosa.
Phillips Gregory S et al. Journal of the American Academy of Dermatology 2021 -
Molecular Diagnoses of X-linked and Other Genetic Hypophosphatemias: Results from a Sponsored Genetic Testing Program.
Rush Eric T et al. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2021
Cancer Genomics
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Clinical Practice Guidelines for Pre-Analytical Procedures of Plasma Epidermal Growth Factor Receptor Variant Testing.
Shin Saeam et al. Annals of laboratory medicine 2021 42(2) 141-149 -
Genomic Biomarkers of Meningioma: A Focused Review.
Pawloski Jacob A et al. International journal of molecular sciences 2021 22(19) -
Comparison of the Metastasis Predictive Potential of mRNA and Long Non-Coding RNA Profiling in Systemically Untreated Breast Cancer.
Do Thi T N et al. Cancers 2021 13(19) -
Is radiomic MRI a feasible alternative to OncotypeDX® recurrence score testing? A systematic review and meta-analysis.
Davey M G et al. BJS open 2021 5(5) -
Patients' Expectations of Benefits From Large-Panel Genomic Tumor Testing in Rural Community Oncology Practices.
Anderson Eric C et al. JCO precision oncology 2021 5 -
Comprehensive Analysis of mC RNA Methylation Regulator Genes in Clear Cell Renal Cell Carcinoma.
Wu Jiajin et al. International journal of genomics 2021 20213803724 -
A four-gene prognostic signature for predicting the overall survival of patients with lung adenocarcinoma.
Liu Lei et al. PeerJ 2021 9e11911 -
Integrative Predictive Modeling of Metastasis in Melanoma Cancer Based on MicroRNA, mRNA, and DNA Methylation Data.
Kutlay Aysegül et al. Frontiers in molecular biosciences 2021 8637355 -
Preexisting TP53-Variant Clonal Hematopoiesis and Risk of Secondary Myeloid Neoplasms in Patients With High-grade Ovarian Cancer Treated With Rucaparib.
Kwan Tanya T et al. JAMA oncology 2021
Hereditary Cancer
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IMProving care After inherited Cancer Testing (IMPACT) study: protocol of a randomized trial evaluating the efficacy of two interventions designed to improve cancer risk management and family communication of genetic test results.
Cragun Deborah et al. BMC cancer 2021 21(1) 1099 -
Communication processes about predictive genetic testing within high-risk breast cancer families: a two-phase study design.
Blomen Chiara L et al. Scientific reports 2021 11(1) 20178 -
Data on Utility in Cost-Utility Analyses of Genetic Screen-and-Treat Strategies for Breast and Ovarian Cancer.
Simões Corrêa Galendi Julia et al. Cancers 2021 13(19) -
Medical guidelines for Li-Fraumeni syndrome 2019, version 1.1.
Kumamoto Tadashi et al. International journal of clinical oncology 2021
Ethics/Policy/Law
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Early experience with the FDA's regulatory review of novel gene therapies.
Puthumana Jeremy et al. BMJ evidence-based medicine 2021
Practice
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Association between Posttraumatic Stress Disorder and Epigenetic Age Acceleration in a Sample of Twins.
Wang Zeyuan et al. Psychosomatic medicine 2021 -
Physicians' strategies for using family history data: having the data is not the same as using the data.
Taber Peter et al. JAMIA open 2021 3(3) 378-385
Heart, Lung, Blood and Sleep Diseases
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Comparing the performance of the novel FAMCAT algorithms and established case-finding criteria for familial hypercholesterolaemia in primary care.
Qureshi Nadeem et al. Open heart 2021 8(2)
Reproductive Health
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Economic Evaluation of Reproductive Carrier Screening for Recessive Genetic Conditions: A Systematic Review.
Wang Tianjiao et al. Expert review of pharmacoeconomics & outcomes research 2021 -
Study protocol: childhood outcomes of fetal genomic variants: the PrenatAL Microarray (PALM) cohort study.
Hui Lisa et al. BMC pediatrics 2021 21(1) 447 -
Preconception risk assessment for thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease.
Hussein Norita et al. The Cochrane database of systematic reviews 2021 10CD010849