Published on 02/29/2024
Human Genomics across the Lifespan
Birth Defects and Child Health
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Transition from pediatric to adult care in patients with Turner syndrome in Italy: a consensus statement by the TRAMITI project.
T Aversa et al. J Endocrinol Invest 2024 -
A holistic approach to fragile X syndrome integrated guidance for person-centred care.
Kirsten Johnson et al. J Appl Res Intellect Disabil 2024 37(3) e13214
Cancer Genomics
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Budget Impact of the Oncotype DX Breast Recurrence Score Test in Patients with Early Primary Hormone-Receptor-Positive, HER2-Negative, Node-Positive Breast Cancer in Germany.
Michael Patrick Lux et al. Breast Care (Basel) 2024 19(1) 27-33 -
Impact on costs and outcomes of multi-gene panel testing for advanced solid malignancies: a cost-consequence analysis using linked administrative data.
Alberto Hernando-Calvo et al. EClinicalMedicine 2024 69102443 -
Real-World Clinical Performance of a DNA-Based Comprehensive Genomic Profiling Assay for Detecting Targetable Fusions in Nonsquamous NSCLC.
Philip C Mack et al. Oncologist 2024 -
Clinical Impact of Comprehensive Molecular Profiling in Adolescents and Young Adults with Sarcoma.
Eden C Andrew et al. J Pers Med 2024 14(2)
Hereditary Cancer
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Understanding Social, Cultural, and Religious Factors Influencing Medical Decision-Making on BRCA1/2 Genetic Testing in the Orthodox Jewish Community.
Haeseung Yi et al. Public Health Genomics 2024 -
Implementation of BRCA Test among Young Breast Cancer Patients in South Korea: A Nationwide Cohort Study.
Yung-Huyn Hwang et al. Cancer Res Treat 2024 -
Describing patterns of familial cancer risk in subfertile men using population pedigree data.
Joemy M Ramsay et al. Hum Reprod 2024 -
Modes of responsibility in disclosing cancer genetic test results to relatives: An analysis of Swiss and Korean narrative data.
Monica Aceti et al. Patient Educ Couns 2024 123108202
Chronic Disease
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Risk of major adverse liver outcomes among first-degree relatives of individuals with MASLD.
Wen Yang et al. Liver Int 2024
Ethics/Policy/Law
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A systematic literature review of the 'commercialisation effect' on public attitudes towards biobank and genomic data repositories.
Jarrod Walshe et al. Public Underst Sci 2024 9636625241230864
Practice
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A Systematic Review of Value Criteria for Next-Generation Sequencing/Comprehensive Genomic Profiling to Inform Value Framework Development.
Federico Augustovski et al. Value Health 2024 -
Efficacy of Community Health Worker-Delivered Family Health History-Based Breast Cancer Education and Services Among Chinese Americans.
Bertille Assoumou et al. J Cancer Educ 2024 -
A survey on awareness, knowledge and preferences toward genetic testing among the United States general public.
Shahariar Mohammed Fahim et al. Per Med 2024 -
Direct-to-Consumer Genetic Tests and Canadian Genetic Counselors: A Pilot Exploration of Professional Roles in Response to Novel Biotechnologies.
Cassandra E Haley et al. Genes (Basel) 2024 15(2)
Heart, Lung, Blood and Sleep Diseases
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Contemporary lipid-lowering management and risk of cardiovascular events in homozygous familial hypercholesterolaemia: insights from the Italian LIPIGEN Registry.
Laura D'Erasmo et al. Eur J Prev Cardiol 2024 -
Perceptions and preferences for genetic testing for sickle cell disease or trait: a qualitative study in Cameroon, Ghana and Tanzania.
Nchangwi Syntia Munung et al. Eur J Hum Genet 2024 -
The development of inherited cardiac conditions services: current position and future perspectives.
Thomas Alway et al. Br Med Bull 2024 -
Detection of Alpha-1 Antitrypsin Levels in Chronic Obstructive Pulmonary Disease in Respiratory Clinics in Spain: Results of the EPOCONSUL 2021 Audit.
Myriam Calle Rubio et al. J Clin Med 2024 13(4) -
The Inclusion of Underrepresented Populations in Cardiovascular Genetics and Epidemiology.
Elias Chappell et al. J Cardiovasc Dev Dis 2024 11(2)
Newborn Screening
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Leading Risk Factors for Congenital Deafness in the Context of Universal Neonatal Screening: Our Observations in a Four-Year Retrospective Study.
Antoine Paul et al. Int J Neonatal Screen 2024 10(1) -
Newborn Screening for Krabbe Disease: Status Quo and Recommendations for Improvements.
Dietrich Matern et al. Int J Neonatal Screen 2024 10(1)
Pharmacogenomics
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PillHarmonics™: An Orchestrated Pharmacogenetics Medication Clinical Decision Support Service.
Robert H Dolin et al. Appl Clin Inform 2024
Reproductive Health
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Clinical utility of polygenic risk scores for embryo selection: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).
Theresa A Grebe et al. Genet Med 2024 101052