Published on 09/07/2023
Human Genomics across the Lifespan
Birth Defects and Child Health
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The effect of a prior e-learning tool on genetic counseling outcomes in diverse ethnic couples with abnormal Down syndrome screening tests: A randomized controlled trial.
Olfat Aboleil-Zoubi et al. J Genet Couns 2023 -
Structured Framework for Multidisciplinary Parent Counseling and Medical Interventions for Fetuses and Infants with Trisomy 13 or Trisomy 18.
Amanda J H Kim et al. Am J Perinatol 2023 -
Knowledge and experiences of healthcare workers in managing children with neurometabolic disorders in a developing country: a cross-sectional study.
Arushi Gahlot Saini et al. J Trop Pediatr 2023 69(4)
Cancer Genomics
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The spectrum of MAPK-ERK pathway genomic alterations in gynecologic malignancies: Opportunities for novel therapeutic approaches.
Dimitrios Nasioudis et al. Gynecol Oncol 2023 17786-94 -
Utility of Precision Oncology Using Cancer Genomic Profiling for Head and Neck Malignancies.
Mioko Matsuo et al. In Vivo 2023 37(5) 2147-2154 -
Clinical importance of the range of detectable variants between the Oncomine Dx target test and a conventional single-gene test for EGFR mutation.
Tadashi Sakaguchi et al. Sci Rep 2023 13(1) 13759
Hereditary Cancer
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Self-reported barriers to screening breast MRI among women at high risk for breast cancer.
Claire C Conley et al. Breast Cancer Res Treat 2023 -
Evaluation of the Rosa Chatbot Providing Genetic Information to Patients at Risk of Hereditary Breast and Ovarian Cancer: Qualitative Interview Study.
Elen Siglen et al. J Med Internet Res 2023 25e46571 -
Risk management actions following genetic testing in the Cancer Health Assessments Reaching Many (CHARM) Study: A prospective cohort study.
Boya Guo et al. Cancer Med 2023 -
BRCA genes as candidates for colorectal cancer genetic testing panel: systematic review and meta-analysis.
Zhewen Feng et al. BMC Cancer 2023 23(1) 807 -
Same day service: A genetic testing station model to improve germline genetic testing in patients with ovarian cancer.
Nicole Marjon et al. Gynecol Oncol 2023 17753-59 -
Intentions of Patients With Cancer and Their Relatives to Use a Live Chat on Familial Cancer Risk: Results From a Cross-Sectional Web-Based Survey.
Paula Memenga et al. J Med Internet Res 2023 25e45198 -
Cost-effectiveness of preventive aspirin use and intensive downstaging polypectomy in patients with familial adenomatous polyposis: A microsimulation modeling study.
Eiko Saito et al. Cancer Med 2023 -
Comparison of Long-Term Oncological Results in Young Women with Breast Cancer between BRCA-Mutation Carriers Versus Non-Carriers: How Tumor and Genetic Risk Factors Influence the Clinical Prognosis.
Corrado Tinterri et al. Cancers (Basel) 2023 15(16) -
Lynch syndrome-associated upper tract urothelial carcinoma frequently occurs in patients older than 60 years: an opportunity to revisit urology clinical guidelines.
Kristyna Pivovarcikova et al. Virchows Arch 2023 -
Does a proactive procedure lead to a higher uptake of predictive testing in families with a pathogenic BRCA1/BRCA2 variant? A family cancer clinic evaluation.
Fred H Menko et al. J Genet Couns 2023 -
Identifying Mediators of Intervention Effects Within a Randomized Controlled Trial to Motivate Cancer Genetic Risk Assessment Among Breast and Ovarian Cancer Survivors.
Jinghua An et al. Ann Behav Med 2023
Chronic Disease
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Association of regular use of ibuprofen and paracetamol, genetic susceptibility, and new-onset dementia in the older population.
Yuanyuan Zhang et al. Gen Hosp Psychiatry 2023 84226-233
Ethics/Policy/Law
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Genomic Data as a National Strategic Resource: Implications for the Genomic Commons and International Data Sharing for Biomedical Research and Innovation.
Kyle McKibbin et al. J Law Med Ethics 2023 51(2) 301-313 -
The divide so wide: Public perspectives on the role of human genome editing in the US healthcare system.
John P Nelson et al. Public Underst Sci 2023 9636625231189955
Practice
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Young adults' reasoning for involving a parent in a genomic decision-making research study.
Julia M Pascal et al. J Genet Couns 2023 -
Does the amount of family history matter? Perspectives of adult adoptees.
Alyssa Williams et al. J Genet Couns 2023 -
Factors influencing genetic screening enrollment among a diverse, community-ascertained cohort.
Nandana D Rao et al. Public Health Genomics 2023 -
Using a chat-based informed consent tool in large-scale genomic research.
Sarah K Savage et al. J Am Med Inform Assoc 2023
Heart, Lung, Blood and Sleep Diseases
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Refinement of the diagnostic approach for the identification of children and adolescents affected by familial hypercholesterolemia: Evidence from the LIPIGEN study.
Manuela Casula et al. Atherosclerosis 2023 117231 -
Rare Variant Genetics and Dilated Cardiomyopathy Severity: The DCM Precision Medicine Study.
Mark Hofmeyer et al. Circulation 2023 -
Genetic testing for familial hypercholesterolemia in Quebec, Canada: a single-centre retrospective cohort study.
Amanda Guerin et al. CMAJ Open 2023 11(4) E754-E764 -
Screening and clinical characteristics analysis of familial hypercholesterolemia in a tertiary public hospital.
Tianzhou Shen et al. Front Cardiovasc Med 2023 101237261 -
Diagnostic challenges in CFTR-related metabolic syndrome: Where the guidelines fall short.
Erin F Kallam et al. Paediatr Respir Rev 2023
Newborn Screening
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Genomic Sequencing as a First-Tier Screening Test and Outcomes of Newborn Screening.
Ting Chen et al. JAMA Netw Open 2023 6(9) e2331162 -
Experiences of cystic fibrosis newborn screening and genetic counseling.
Kimberly Foil et al. J Community Genet 2023 -
Parental Preferences for Expanded Newborn Screening: What Are the Limits?
Nicole S Y Liang et al. Children (Basel) 2023 10(8)
Pharmacogenomics
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The Value of Pharmacogenomics for White and Indigenous Americans after Kidney Transplantation.
Alexandra Brady et al. Pharmacy (Basel) 2023 11(4) -
Editorial: Editor's feature: negative findings in pharmacogenetics and pharmacogenomics.
José A G Agúndez et al. Front Pharmacol 2023 141267344
Reproductive Health
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Evaluation of the clinical utility of extended non-invasive prenatal testing in the detection of chromosomal aneuploidy and microdeletion/microduplication.
Weifang Tian et al. Eur J Med Res 2023 28(1) 304 -
Carrier Screening Programs for Cystic Fibrosis, Fragile X Syndrome, Hemoglobinopathies and Thalassemia, and Spinal Muscular Atrophy: A Health Technology Assessment.
et al. Ont Health Technol Assess Ser 2023 23(4) 1-398 -
Analysis of the results of non-invasive prenatal testing (NIPT) in 545 pregnant women in advanced maternal age.
J-Y Su et al. Eur Rev Med Pharmacol Sci 2023 27(15) 7101-7106