Published on 12/16/2021
Human Genomics across the Lifespan
Birth Defects and Child Health
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Use of a book to disclose a diagnosis of Duchenne muscular dystrophy to a young child: A pilot study.
Audic F et al. Archives de pediatrie : organe officiel de la Societe francaise de pediatrie 2021 -
The PID Principles of Care: Where Are We Now? A Global Status Report Based on the PID Life Index.
Nordin Julia et al. Frontiers in immunology 2021 12780140 -
A Mutation-Agnostic Hematopoietic Stem Cell Gene Therapy for Metachromatic Leukodystrophy.
Antony Justin S et al. The CRISPR journal 2021
Cancer Genomics
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The salivary metatranscriptome as an accurate diagnostic indicator of oral cancer.
Banavar Guruduth et al. NPJ genomic medicine 2021 6(1) 105 -
Clinical utility of targeted next generation sequencing assay in IDH-wildtype glioblastoma for therapy decision-making.
Lim-Fat Mary Jane et al. Neuro-oncology 2021 -
A randomized study of genetic education versus usual care in tumor profiling for advanced cancer in the ECOG-ACRIN Cancer Research Group (EAQ152).
Bradbury Angela R et al. Cancer 2021 -
Dynamically Accumulating Homologous Recombination Deficiency Score Served as an Important Prognosis Factor in High-Grade Serous Ovarian Cancer.
Su Rongjia et al. Frontiers in molecular biosciences 2021 8762741 -
Trends in Use of Next-Generation Sequencing in Patients With Solid Tumors by Race and Ethnicity After Implementation of the Medicare National Coverage Determination.
Sheinson Daniel M et al. JAMA network open 2021 4(12) e2138219 -
Is Long Noncoding SNHG7 a Reliable Diagnostic Tool for Metastasis Diagnosis of Cancer: A Meta-Analysis.
Hu Mingchao et al. Genetic testing and molecular biomarkers 2021 -
Genomic Tumor Profiling Improves Breast Cancer PFS.
et al. Cancer discovery 2021
Hereditary Cancer
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Patient and public understanding of the concept of 'personalised medicine' in relation to cancer treatment: a systematic review.
Botham Jed et al. Future healthcare journal 2021 8(3) e703-e708 -
Population-based estimates of breast cancer risk for carriers of pathogenic variants identified by gene-panel testing.
Southey Melissa C et al. NPJ breast cancer 2021 7(1) 153 -
Does Direct-to-Consumer Personal Genetic Testing Improve Gynecological Cancer Screening Uptake among Never-Screened Attendees? A Randomized Controlled Study.
Watanabe Miki et al. International journal of environmental research and public health 2021 18(23) -
The DAMA25 Study: Feasibility of a Lifestyle Intervention Programme for Cancer Risk Reduction in Young Italian Women with Breast Cancer Family History.
Masala Giovanna et al. International journal of environmental research and public health 2021 18(23) -
Evaluation of Urinalysis-Based Screening for Urothelial Carcinoma in Patients With Lynch Syndrome.
Chouhan Hanumant et al. Diseases of the colon and rectum 2021 65(1) 40-45 -
Inherited TP53 Variants and Risk of Prostate Cancer.
Maxwell Kara N et al. European urology 2021 -
Comparison of a Cancer Family History Collection and Risk Assessment Tool - ItRunsInMyFamily - with Risk Assessment by Health-Care Professionals.
Ritchie Jordon B et al. Public health genomics 2021 1-9 -
Building the What Comes Next Cohort for BRCA1 and BRCA2 testing: a descriptive analysis.
Dossa Fahima et al. CMAJ open 2021 9(3) E874-E885
Chronic Disease
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Genetic testing for the epilepsies: A systematic review.
Sheidley Beth R et al. Epilepsia 2021 -
Multi-Modal Data Analysis for Alzheimer's Disease Diagnosis: An Ensemble Model Using Imagery and Genetic Features.
Ying Qi et al. Annual International Conference of the IEEE Engineering in Medicine and Biology Society. IEEE Engineering in Medicine and Biology Society. Annual International Conference 2021 20213586-3591
Ethics/Policy/Law
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In the family: access to, and communication of, familial information in clinical practice.
Lucassen Anneke et al. Human genetics 2021 -
Need for Racial and Ethnic Diversity in Asthma Precision Medicine.
González Burchard Esteban et al. The New England journal of medicine 2021 385(24) 2297-2298 -
An Integrated, Scalable, Electronic Video Consent Process to Power Precision Health Research: Large, Population-Based, Cohort Implementation and Scalability Study.
Lajonchere Clara et al. Journal of medical Internet research 2021 23(12) e31121 -
Recommendations for Creating Codes of Conduct for Processing Personal Data in Biobanking Based on the GDPR art.40.
Krekora-Zajac Dorota et al. Frontiers in genetics 2021 12711614 -
Amortization of gene replacement therapies: A health policy analysis exploring a mechanism for mitigating budget impact of high-cost treatments.
Dabbous Monique et al. Health policy (Amsterdam, Netherlands) 2021 -
Governance of Access in Biobanking: The Case of Telethon Network of Genetic Biobanks.
Iacomussi Sofia et al. Biopreservation and biobanking 2021
Practice
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Gene Therapy Knowledge and Attitude Among Healthcare Professionals: A Cross-Sectional Study.
AlRasheed Maha M et al. Frontiers in public health 2021 9773175 -
Examining access to care in clinical genomic research and medicine: Experiences from the CSER Consortium.
Gutierrez Amanda M et al. Journal of clinical and translational science 2021 5(1) e193
Heart, Lung, Blood and Sleep Diseases
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Hemophilia gene therapy: ushering in a new treatment paradigm?
George Lindsey A et al. Hematology. American Society of Hematology. Education Program 2021 2021(1) 226-233 -
New Therapies for Primary Hyperlipidaemia.
Aguilar-Salinas Carlos A et al. The Journal of clinical endocrinology and metabolism 2021 -
MLb-LDLr: A Machine Learning Model for Predicting the Pathogenicity of LDLr Missense Variants.
Larrea-Sebal Asier et al. JACC. Basic to translational science 2021 6(11) 815-827 -
Novel therapeutic targets and agents for pediatric dyslipidemia.
Sunil Bhuvana et al. Therapeutic advances in endocrinology and metabolism 2021 1220420188211058323 -
30 year experience of index case identification and outcomes of cascade testing in high-risk breast and colorectal cancer predisposition genes.
Woodward Emma R et al. European journal of human genetics : EJHG 2021 -
The Exposome Approach in Allergies and Lung Diseases: Is It Time to Define a Preconception Exposome?
López-Cervantes Juan Pablo et al. International journal of environmental research and public health 2021 18(23) -
A resilient type of familial hypercholesterolaemia: case-control follow-up of genetically characterized older patients in the SAFEHEART cohort.
Pérez de Isla Leopoldo et al. European journal of preventive cardiology 2021 -
Genetic mutations, regression of Achilles tendon thickness, and cardiovascular events among patients with familial hypercholesterolemia.
Tada Hayato et al. Atherosclerosis 2021 34028-34 -
Improving Familial Hypercholesterolemia Diagnosis Using an EMR-based Hybrid Diagnostic Model.
Eid Wael E et al. The Journal of clinical endocrinology and metabolism 2021 -
Detection of Familial Hypercholesterolemia through centralized analytical data. HF HUELVA DETECTA Program.
Gutiérrez-Cortizo Eva Nadiejda et al. Endocrinologia, diabetes y nutricion 2021 68(7) 450-457 -
Development and evaluation of a virtual patient-centered outcomes research training program for the cystic fibrosis community.
Godfrey Emily M et al. Research involvement and engagement 2021 7(1) 86
Pharmacogenomics
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Prioritizing pharmacogenomics implementation initiates - survey of healthcare professionals.
Ho Teresa T et al. Personalized medicine 2021
Reproductive Health
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Maternal and foetal outcomes following natural vaginal versus caesarean section (c-section) delivery in women with bleeding disorders and carriers.
Karanth Laxminarayan et al. The Cochrane database of systematic reviews 2021 12CD011059 -
Clinical Application of Noninvasive Prenatal Testing for Pregnant Women with Assisted Reproductive Pregnancy.
Jin Xiao-Xiao et al. International journal of women's health 2021 131167-1174 -
Effectiveness of a digital dietary intervention program targeting young adults before parenthood: protocol for the PREPARED randomised controlled trial.
Øverby Nina Cecilie et al. BMJ open 2021 11(12) e055116 -
SIGNIFICANCE OF LOW MATERNAL SERUM Β-HCG LEVELS IN THE ASSESSMENT OF THE RISK OF ATYPICAL CHROMOSOMAL ABNORMALITIES.
Wijngaard Robin et al. Fetal diagnosis and therapy 2021 -
Pregnancy, Preeclampsia and Maternal Aging: From Epidemiology to Functional Genomics.
Miller Eliza C et al. Ageing research reviews 2021 101535 -
Decision-making for prenatal genetic screening: how will pregnant women navigate a growing number of aneuploidy and carrier screening options?
Farrell Ruth M et al. BMC pregnancy and childbirth 2021 21(1) 806