Published on 05/30/2024
Human Genomics across the Lifespan
Birth Defects and Child Health
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Medicaid spending and utilization of gene and RNA therapies for rare inherited conditions.
Ilina C Odouard et al. Health Aff Sch 2024 2(5) qxae051 -
Ending an Odyssey? The Psychosocial Experiences of Parents after the Genetic Diagnosis of a Mitochondrial Disease in Children.
Oliver Heath et al. J Pers Med 2024 14(5) -
Evaluating the Inheritance Risk: Epilepsy Prevalence among Offspring of Adults with Epilepsy in a Tertiary Referral Epilepsy Center.
Tassanai Intravooth et al. J Clin Med 2024 13(10) -
Reanalysis of genomic data in rare disease: current practice and attitudes among Australian clinical and laboratory genetics services.
Stephanie Best et al. Eur J Hum Genet 2024 -
Attitudes of autistic adults toward genetic testing for autism.
Tielle Gallion et al. J Genet Couns 2024 -
The impact of inversions across 33,924 families with rare disease from a national genome sequencing project.
Alistair T Pagnamenta et al. Am J Hum Genet 2024
Cancer Genomics
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Diagnostic accuracy of Afirma Gene Expression Classifier, Afirma Gene Sequencing Classifier, ThyroSeq v2 and ThyroSeq v3 for indeterminate (Bethesda III and IV) thyroid nodules: a meta-analysis.
Irfan Vardarli et al. Endocr Connect 2024 -
Association Between Ki-67 Proliferative Index and Oncotype-Dx Recurrence Score in Hormone Receptor-Positive, HER2-Negative Early Breast Cancers. A Systematic Review of the Literature.
Mehwish Mooghal et al. Breast Cancer (Auckl) 2024 1811782234241255211
Hereditary Cancer
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Cost-effectiveness of the McGill interactive pediatric oncogenetic guidelines in identifying Li-Fraumeni syndrome in female patients with osteosarcoma.
Juan David Rios et al. Pediatr Blood Cancer 2024 e31077 -
Progression of nodular thyroid disease in Familial Adenomatous Polyposis syndrome: refined surveillance recommendations.
Gustavo Romero-Velez et al. Endocr Pract 2024 -
How hereditary cancer risk disclosure to relatives is handled in practice - Patient perspectives from a Swedish cancer genetics clinic.
Carolina Hawranek et al. Patient Educ Couns 2024 126108319 -
Utilization of A Third-Party Partnership in Tele-genetic Risk Assessment Program in Genitourinary Oncology.
Lin Lin et al. Urology 2024 -
Review of the cost-effectiveness of surveillance for hereditary pancreatic cancer.
Louise Wang et al. Fam Cancer 2024 -
Current practices and challenges in genetic testing and counseling for women with breast and ovarian cancer in Asia.
Ava Kwong et al. Asia Pac J Clin Oncol 2024
Chronic Disease
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Outdoor walking, genetic predisposition, and the risk of incident osteoporosis among older adults: A prospective large population-based cohort study.
Yu-Shan Yue et al. Osteoporos Int 2024 -
Association of LIfestyle for BRAin health risk score (LIBRA) and genetic susceptibility with incident dementia and cognitive decline.
Jeanne Neuffer et al. Alzheimers Dement 2024
Ethics/Policy/Law
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Transfer of embryos with positive PGT-M results: Genetic Counselors' perspectives and ethical considerations.
Silvia Gunderson et al. J Genet Couns 2024
Practice
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Update to the essential genomic nursing competencies and outcome indicators.
Kathleen A Calzone et al. J Nurs Scholarsh 2024 -
Implementation of a High-Accuracy Targeted Gene Expression Panel for Clinical Care.
Aileen Y Alontaga et al. J Mol Diagn 2024
Heart, Lung, Blood and Sleep Diseases
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A Mixed-Methods Evaluation of a Project ECHO Program for the Evidence-Based Management of Sickle Cell Disease.
Cami Mosley et al. Int J Environ Res Public Health 2024 21(5) -
Current and Future Therapeutics for Treating Patients with Sickle Cell Disease.
Mariam Barak et al. Cells 2024 13(10) -
[Cardiomyopathies: a practical approach to the assessment and management of patients and their families].
Roxana Hiestand et al. Ther Umsch 2024 81(2) 60-66 -
Influence of Polygenic Background on the Clinical Presentation of Familial Hypercholesterolemia.
Mark Trinder et al. Arterioscler Thromb Vasc Biol 2024 -
Genetic counselling for at-risk family members with hereditary transthyretin amyloidosis: data from a single-centre study.
Katsuya Nakamura et al. Amyloid 2024 1-5
Newborn Screening
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Epidemiology of Spinal Muscular Atrophy Based on the Results of a Large-Scale Pilot Project on 202,908 Newborns.
Irina Yu Efimova et al. Pediatr Neurol 2024 156147-154
Reproductive Health
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Maternal cell contamination in postnatal umbilical cord blood samples implies a low risk for genetic misdiagnoses.
Sanne P Smeekens et al. Prenat Diagn 2024 -
Diagnostic accuracy of cell-free DNA in maternal blood in detecting chromosomal anomalies in twin pregnancies: systematic review and meta-analysis.
L Della Valle et al. Ultrasound Obstet Gynecol 2024