Published on 02/15/2024
Human Genomics across the Lifespan
Birth Defects and Child Health
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Implementation of rapid genomic sequencing in safety-net neonatal intensive care units: protocol for the VIrtual GenOme CenteR (VIGOR) proof-of-concept study.
Alissa M D'Gama et al. BMJ Open 2024 14(2) e080529 -
Wales Infants' and childreN's Genome Service (WINGS): providing rapid genetic diagnoses for unwell children.
Emily Sloper et al. Arch Dis Child 2024
Cancer Genomics
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NSCLC Digital PCR Panel Returns Low-Input Sample Results Where Sequencing Fails.
Leah Rowland Herdt et al. Diagnostics (Basel) 2024 14(3)
Hereditary Cancer
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Correlates of U.S. Adults Aged 50-75 Years Having Had a Colorectal Cancer Screening Test.
Aisha T Langford et al. AJPM Focus 2024 3(2) 100187 -
Colorectal cancer genetic referral: Are we doing enough?
Whitnee C Broyles et al. Proc (Bayl Univ Med Cent) 2024 37(2) 250-254 -
Experiences of hereditary cancer care among transgender and gender diverse people: "It's gender. It's cancer risk…it's everything".
Sarah Roth et al. J Genet Couns 2024 -
Real-World Data on Institutional Implementation of Screening for Mismatch Repair Deficiency and Lynch Syndrome in Endometrial Cancer Patients.
Carmen Joder et al. Cancers (Basel) 2024 16(3) -
LFSPROShiny: An Interactive R/Shiny App for Prediction and Visualization of Cancer Risks in Families With Deleterious Germline TP53 Mutations.
Nam H Nguyen et al. JCO Clin Cancer Inform 2024 8e2300167
Ethics/Policy/Law
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Access, autonomy, and affordability: ethical and human rights issues surrounding multigene panel testing for cancer in Japan and Switzerland.
Kate Nakasato et al. Front Genet 2024 151343720 -
The importance, challenges, and possible solutions for sharing proteomics data while safeguarding individuals' privacy.
Mahasish Shome et al. Mol Cell Proteomics 2024 100731 -
Ethical preparedness in genomic medicine: how NHS clinical scientists navigate ethical issues.
Kate Sahan et al. J Med Ethics 2024
Practice
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Publics' knowledge of, attitude to and motivation towards health-related genomics: a scoping review.
Angela Pearce et al. Eur J Hum Genet 2024
Heart, Lung, Blood and Sleep Diseases
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Familial hypercholesterolaemia in UK primary care: a Clinical Practice Research Datalink study of an under-recognised condition.
Adeline Durand et al. Br J Gen Pract 2024 -
Barriers to gene therapy, understanding the concerns people with haemophilia have: an exigency sub-study.
Simon Fletcher et al. Orphanet J Rare Dis 2024 19(1) 59 -
Walk a mile in my shoes: perspectives towards sharing of health and experience data among individuals living with sickle cell disorder.
Simon Leigh et al. Mhealth 2024 104 -
An update review of new therapies in sickle cell disease: the prospects for drug combinations.
Sanne Lugthart et al. Expert Opin Pharmacother 2024
Pharmacogenomics
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Genetic and non-genetic predictors of risk for opioid dependence.
Peter J Na et al. Psychol Med 2024 1-8