Published on 08/10/2023
Human Genomics across the Lifespan
Cancer Genomics
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Molecular testing for indeterminate thyroid nodules: past, present, and future.
Rajam Raghunathan et al. Curr Opin Endocrinol Diabetes Obes 2023 -
RNA Sequencing for Solid Tumor Fusion Gene Detection: Proficiency Testing Practice and Performance Comparison.
Julia A Bridge et al. Arch Pathol Lab Med 2023 -
Implementing precision oncology for sarcoma patients: the CCCmolecular tumor board experience.
Luc M Berclaz et al. J Cancer Res Clin Oncol 2023 -
A comprehensive genomic study of 390 H3F3A-mutant pediatric and adult diffuse high-grade gliomas, CNS WHO grade 4.
Erik A Williams et al. Acta Neuropathol 2023
Hereditary Cancer
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Germline genetic variants in pheochromocytoma/paraganglioma: single-center experience.
José V Lima et al. Endocr Oncol 2023 3(1) e220091 -
The review of genetic screening services and common BRCA1/2 variants among South African breast cancer patients.
Mpoi Makhetha et al. J Genet Couns 2023 -
A Community Health Worker Model to Support Hereditary Cancer Risk Assessment and Genetic Testing.
Leah Marsh et al. Obstet Gynecol 2023 -
Retrospective Cohort Study on the Limitations of Direct-to-Consumer Genetic Screening in Hereditary Breast and Ovarian Cancer.
Neelam V Desai et al. JCO Precis Oncol 2023 7e2200695 -
Low adenoma burden in unselected patients with a pathogenic APC variant.
Rachel Schwiter et al. Genet Med 2023 100949 -
Risk Factors for Developing Both Primary Breast and Primary Ovarian Cancer: A Systematic Review.
Jennifer S Ferris et al. Crit Rev Oncol Hematol 2023 104081
Chronic Disease
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Implementation and Feasibility of Clinical Genome Sequencing Embedded Into the Outpatient Nephrology Care for Patients With Proteinuric Kidney Disease.
Maddalena Marasa et al. Kidney Int Rep 2023 8(8) 1638-1647 -
Physician weight influences responses to a public health message about the genetics of obesity.
Sydney H Telaak et al. Patient Educ Couns 2023 115107853 -
SOD1-ALS-Browser: a web-utility for investigating the clinical phenotype in SOD1 amyotrophic lateral sclerosis.
Thomas P Spargo et al. Amyotroph Lateral Scler Frontotemporal Degener 2023 1-10
Ethics/Policy/Law
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Comparative ethical evaluation of epigenome editing and genome editing in medicine: first steps and future directions.
Karla Alex et al. J Med Ethics 2023 -
Ethical considerations for Biobanking and Use of Genomics Data in Africa: A narrative review.
Mary Amoakoh-Coleman et al. Res Sq 2023 -
Ethical considerations when co-analyzing ancient DNA and data from private genetic databases.
Éadaoin Harney et al. Am J Hum Genet 2023 -
Legal aspects of genetic testing in the evaluation of ventricular tachycardias.
Regina Duryagina et al. Herzschrittmacherther Elektrophysiol 2023
Practice
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Preparedness and training of genetic counselors practicing in inpatient settings.
Nelliann Mancl et al. J Genet Couns 2023 -
Identification of Sociodemographic, Clinical, and Genetic Factors to Aid Alaska Native and American Indian People to Successfully Quit Smoking.
Jaedon P Avey et al. Nicotine Tob Res 2023 -
Calibrated prediction intervals for polygenic scores across diverse contexts.
Kangcheng Hou et al. medRxiv 2023 -
Genetic testing and other healthcare use by Black and white individuals in a genomic sequencing study.
Katherine W Saylor et al. Public Health Genomics 2023 -
Acute hepatic porphyrias: Recommendations for diagnosis and management with real-world examples.
Akshata Moghe et al. Mol Genet Metab 2023 140(3) 107670 -
The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change.
Heidi L Rehm et al. Genet Med 2023 100947 -
Economic evaluations of predictive genetic testing: A scoping review.
Qin Xi et al. PLoS One 2023 18(8) e0276572
Heart, Lung, Blood and Sleep Diseases
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Correlation of vitamin D receptor genotypes, Specific IgE levels and other variables with asthma control in children.
Walid Al-Qerem et al. J Asthma 2023 1-21 -
Awareness of individual goals, preferences, and priorities of persons with severe congenital haemophilia A for a tailored shared decision-making approach to liver-directed gene therapy. A practical guideline.
Giovanni Di Minno et al. Blood Rev 2023 101118 -
Genetic counseling in sickle cell disease: Insights from the Indian tribal population.
Pooja Aggarwal et al. J Community Genet 2023
Pharmacogenomics
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Pharmacogenetics: ethnicity, treatment and health in Latin American populations.
Martha Sosa-Macías et al. Pharmacogenomics 2023 -
Providers' Use of Pharmacogenetic Testing to Inform Antidepressant Prescribing: Results of Qualitative Interviews.
Bonnie M Vest et al. Psychiatr Serv 2023 0
Reproductive Health
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Non-invasive cell-free DNA-based approach for the diagnosis of clinical miscarriage: A retrospective study.
Nuria Balaguer et al. BJOG 2023 -
Should genes for non-syndromic hearing loss be included in reproductive genetic carrier screening: Views of people with a personal or family experience of deafness.
Lucinda Freeman et al. J Genet Couns 2023 -
Reproductive decision-making and the utilization of preimplantation genetic testing among individuals with inherited aortic or vascular disease.
Kaleigh Patton et al. J Genet Couns 2023 -
Defining core outcomes of reproductive genetic carrier screening: A Delphi survey of Australian and New Zealand stakeholders.
Ebony Richardson et al. Prenat Diagn 2023 -
Scaling-up and future sustainability of a national reproductive genetic carrier screening program.
Zoe Fehlberg et al. NPJ Genom Med 2023 8(1) 18