Published on 01/04/2024
Human Genomics across the Lifespan
Birth Defects and Child Health
-
Glycogen Storage Disease: Expert Opinion on Clinical Diagnosis Revisited after Molecular Testing.
Rafael de Marchi et al. Genes (Basel) 2023 14(12) -
Genetics evaluation outcomes of patients with pediatric hearing loss: 2008-2022 retrospective study.
Sarah Mazzola et al. Am J Otolaryngol 2023 45(2) 104196
Cancer Genomics
-
Genomic landscape and actionable mutations of brain metastases derived from non-small cell lung cancer: A systematic review.
Lily J Andrews et al. Neurooncol Adv 2023 5(1) vdad145 -
Advancing hospital-based health technology assessment: evaluating genomic panel contracting strategies for blood tumors through a multimethodology.
Susana Afonso et al. Int J Technol Assess Health Care 2023 39(1) e76 -
Race, Gene Expression Signatures, and Clinical Outcomes of Patients With High-Risk Early Breast Cancer.
Beverly Kyalwazi et al. JAMA Netw Open 2023 6(12) e2349646 -
Validation of the RSClin risk calculator in the National Cancer Data Base.
Augustin G L Vannier et al. Cancer 2023 -
Sotorasib versus Docetaxel for treatment of US and Chinese patients with advanced non-small-cell lung cancer with KRAS p.G12C-mutated: A cost-effectiveness analysis to inform drug pricing.
Yunlin Jiang et al. Medicine (Baltimore) 2023 102(50) e36387 -
Determinants Affecting the Clinical Implementation of a Molecularly Informed Molecular Tumor Board Recommendation: Experience from a Tertiary Cancer Center.
Lars Tögel et al. Cancers (Basel) 2023 15(24)
Hereditary Cancer
-
Breast Cancer Polygenic Risk Score Influence on Risk-Reducing Endocrine Therapy Use: Genetic Risk Estimate (GENRE) Trial 1-Year and 2-Year Follow-up.
Daniela L Stan et al. Cancer Prev Res (Phila) 2023 -
Recontact to return new or updated PALB2 genetic results in the clinical laboratory setting.
Seema Panchal et al. J Med Genet 2023 -
Risk-reducing decisions regarding germline BRCA pathogenic variant: focusing on the timing of genetic testing and RRSO.
Akiko Abe et al. J Med Genet 2023 -
Experiences of patients and family members with follow-up care, information needs and provider support after identification of Lynch Syndrome.
Ryan Mooney et al. Hered Cancer Clin Pract 2023 21(1) 28 -
Prevalence of Variants of Uncertain Significance in Patients Undergoing Genetic Testing for Hereditary Breast and Ovarian Cancer and Lynch Syndrome.
Pavlina Chrysafi et al. Cancers (Basel) 2023 15(24) -
Development and testing of patient-centered education about hormone replacement therapy for women at high genetic risk of breast and ovarian cancer.
Katherine N Penvose et al. Gynecol Oncol 2023 18191-98
Practice
-
Secondary (additional) findings from the 100,000 Genomes Project: disease manifestation, healthcare outcomes and costs of disclosure.
Joshua Nolan et al. Genet Med 2023 101051 -
Recommendations for laboratory workflow that better support centralised amalgamation of genomic variant data: findings from CanVIG-UK national molecular laboratory survey.
Sophie Allen et al. J Med Genet 2023 -
Placing Publics in Public Health Genomics.
Brandy M Fox et al. Public Health Genomics 2023 -
The Human Genome Organisation (HUGO) and a vision for Ecogenomics: the Ecological Genome Project.
Benjamin Capps et al. Hum Genomics 2023 17(1) 115 -
Returning personalized, genetic health test results to individuals of African descent or ancestry in precision medicine research.
Rachele M Hendricks-Sturrup et al. Health Aff Sch 2023 1(6) qxad066
Heart, Lung, Blood and Sleep Diseases
-
A comprehensive view of pregnancy in patients with sickle cell disease in high-income countries: the need for robust data and further decline in morbidity and mortality.
Laure Joseph et al. Lancet Haematol 2023 11(1) e75-e84 -
Prevalent Variants in the LDLR Gene Impair Responsiveness to Rosuvastatin among Family Members of Patients with Premature Myocardial Infarction.
Nguyen Trung Kien et al. J Pers Med 2023 13(12) -
Genetics in Ischemic Stroke: Current Perspectives and Future Directions.
Ka Zhang et al. J Cardiovasc Dev Dis 2023 10(12)
Newborn Screening
-
Bridging the gaps in newborn screening programmes: Challenges and opportunities to detect haemoglobinopathies in Africa.
Seth Twum et al. Afr J Lab Med 2023 12(1) 2225 -
Perception of genomic newborn screening among peripartum mothers.
Bernarda Prosenc et al. Eur J Hum Genet 2023 -
Cystic Fibrosis Cases Missed by Newborn Bloodspot Screening-Towards a Consistent Definition and Data Acquisition.
Anne Munck et al. Int J Neonatal Screen 2023 9(4)
Pharmacogenomics
-
Documentation of results and medication prescribing after combinatorial psychiatric pharmacogenetic testing: a case for discrete results.
John Loftus et al. Genet Med 2023 101056
Reproductive Health
-
Rapid non-invasive prenatal screening test for trisomy 21 based on digital droplet PCR.
Sona Laššáková et al. Sci Rep 2023 13(1) 22948 -
The Role of Preprocedure Genetic Counseling in Pregnancies Interrupted for Fetal Abnormalities.
Alex A Francoeur et al. Am J Perinatol 2023 -
Pre-implantation Genetic Testing in Inherited Metabolic Diseases? Stateof- the-art and current challenges.
Ana Miguel Capela et al. Endocr Metab Immune Disord Drug Targets 2023 -
Perceptions and Attitudes Toward Genetic Counselors and Genetic Testing Among Certified Professional Midwives in Vermont: A Modified Grounded Theory Study.
Jazmine L Gabriel et al. Qual Health Res 2023 10497323231222395