Published on 10/05/2023
Human Genomics across the Lifespan
Birth Defects and Child Health
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Health-related quality of life in a european sample of adults with early-treated classical PKU.
Stephanie Maissen-Abgottspon et al. Orphanet J Rare Dis 2023 18(1) 300 -
Clinical actionability of genetic findings in cerebral palsy.
Sara A Lewis et al. medRxiv 2023 -
Expert Consensus on the Long-Term Effectiveness of Medical Nutrition Therapy and Its Impact on the Outcomes of Adults with Phenylketonuria.
Júlio César Rocha et al. Nutrients 2023 15(18) -
Insight and Recommendations for Fragile X-Premutation-Associated Conditions from the Fifth International Conference on FMR1 Premutation.
Flora Tassone et al. Cells 2023 12(18) -
Clinical Genetics Assessment Triangle (CGAT): A simple tool to identify patients with genetic conditions.
David Ferri-Rufete et al. Eur J Med Genet 2023 104858
Cancer Genomics
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The health inequality impact of liquid biopsy to inform first-line treatment of advanced non-small cell lung cancer - a distributional cost-effectiveness analysis.
Jeroen P Jansen et al. Value Health 2023 -
Single-Step IGHV Next-Generation Sequencing Detects Clonality and Somatic Hypermutation in Lymphoid Malignancies: A Phase III Diagnostic Accuracy Study.
Anna Gazzola et al. Cancers (Basel) 2023 15(18) -
Validation of the Clinical Use of GIScar, an Academic-developed Genomic Instability Score Predicting Sensitivity to Maintenance Olaparib for Ovarian Cancer.
Raphaël Leman et al. Clin Cancer Res 2023 OF1-OF11 -
Discordance of Oncotype DX scores in synchronous bilateral and unilateral multifocal breast cancers.
Jing Wang et al. Breast Cancer Res Treat 2023
Hereditary Cancer
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Genetic testing decision-making experiences within families of colorectal cancer patients: A qualitative study.
Meng He et al. Eur J Oncol Nurs 2023 66102417 -
AGA Clinical Practice Update on Risk Stratification for Colorectal Cancer Screening and Post-Polypectomy Surveillance: Expert Review.
Rachel B Issaka et al. Gastroenterology 2023 -
Piloting a Spanish-Language Web-Based Tool for Hereditary Cancer Genetic Testing.
Deborah Cragun et al. Curr Oncol 2023 30(9) 8352-8362 -
Patient decision aids in mainstreaming genetic testing for women with ovarian cancer: A prospective cohort study.
Monika Sobocan et al. BJOG 2023 -
Toward more personalized breast cancer risk assessment: The polygenic risk score.
Daad Sarkis-Tannous et al. JAAPA 2023 36(10) 37-40 -
The clinical utility and costs of whole-genome sequencing to detect cancer susceptibility variants-a multi-site prospective cohort study.
Aimee L Davidson et al. Genome Med 2023 15(1) 74
Chronic Disease
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Pathway-specific polygenic scores for Alzheimer's disease are associated with changes in brain structure in younger and older adults.
Judith R Harrison et al. Brain Commun 2023 5(5) fcad229 -
Genetic literacy and attitude towards genetic testing in patients with Parkinson's disease and their caregivers: A review of literature.
Sneha D Kamath et al. Parkinsonism Relat Disord 2023 105853 -
Frequency of adding salt to foods, genetic susceptibility, and incident type 2 diabetes: a prospective cohort study.
Yimin Zhao et al. J Clin Endocrinol Metab 2023 -
Incorporating Genetic Testing Into the Care of Patients With Amyotrophic Lateral Sclerosis/Frontotemporal Degeneration Spectrum Disorders.
Chelsea Chambers et al. Neurol Clin Pract 2023 13(5) e200201 -
Polygenic Scores for Longitudinal Prediction of Incident Type 2 Diabetes in an Ancestrally and Medically Diverse Primary Care Network.
Ravi Mandla et al. medRxiv 2023
Ethics/Policy/Law
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Bioethics of somatic gene therapy: what do we know so far?
Paola Buedo et al. Curr Med Res Opin 2023 1-11 -
An Ethical Framework for Research Using Genetic Ancestry.
Anna C F Lewis et al. Perspect Biol Med 2023 66(2) 225-248 -
Newborn Screening for Neurodevelopmental Disorders May Exacerbate Health Disparities.
Sarah A Sobotka et al. Pediatrics 2023
Practice
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Genetic counseling graduate program faculty perspectives on sharing education materials among programs.
E Emma Murphy et al. J Genet Couns 2023 -
The impact of converting to telehealth for cancer genetic counseling and testing during the COVID-19 pandemic.
Ellie M Proussaloglou et al. J Genet Couns 2023 -
Applying the R = MC implementation science heuristic to assess the impact of readiness on reach and implementation of a population-wide genomic screening program.
Caitlin G Allen et al. J Genet Couns 2023 -
Public Health Genomics: Time to Sharpen the Focus.
Colleen M McBride et al. Public Health Genomics 2023
Heart, Lung, Blood and Sleep Diseases
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Predictive capacity of a genetic risk score for coronary artery disease in assessing recurrences and cardiovascular mortality among patients with myocardial infarction.
Luis Miguel Rincón et al. Front Cardiovasc Med 2023 101254066 -
Patient-reported outcome measures on mental health and psychosocial factors in patients with Brugada syndrome.
Stefaan Six et al. Europace 2023 25(9) -
Delivery of gene therapy in haemophilia treatment centres in the United States: Practical aspects of preparedness and implementation.
Steven Pipe et al. Haemophilia 2023 -
Long-term safety and effectiveness of alirocumab and evolocumab in familial hypercholesterolemia (FH) in Belgium.
Marc Snel et al. Acta Cardiol 2023 1-8 -
Genetic Contribution to End-Stage Cardiomyopathy Requiring Heart Transplantation.
Yuri Kim et al. Circ Genom Precis Med 2023 e004062 -
A health systems assessment of genetic counseling in cardiovascular care in a large health system: Adherence to genetics recommendations in the Military Health System.
Lydia D Hellwig et al. J Genet Couns 2023 -
Return of Participants' Incidental Genetic Research Findings: Experience from a Case-Control Study of Asthma in an American Indian Community.
Lyle G Best et al. J Pers Med 2023 13(9) -
Premature atherosclerosis: An analysis over 39 years in the Netherlands. Implications for young individuals in high-risk families.
Juliette Crooijmans et al. Atherosclerosis 2023 117267 -
Using a polygenic score to account for genomic risk factors in a model to detect individuals with dilated ascending thoracic aortas.
John DePaolo et al. medRxiv 2023 -
Current challenges and new approaches to implementing optimal management of sickle cell disease in sub-Saharan Africa.
Mwashungi Ally et al. Semin Hematol 2023 -
Premature morbidity and mortality associated with potentially undiagnosed familial hypercholesterolemia in the general population.
Kausik K Ray et al. Am J Prev Cardiol 2023 15100580
Pharmacogenomics
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Review of pharmacogenomics of psychiatric comorbidities in autism spectrum disorder.
Aida Alvarez et al. Pharmacogenomics 2023 -
Patient Perspectives of Barriers and Facilitators for the Uptake of Pharmacogenomic Testing in Veterans Affairs' Pharmacogenomic Testing for the Veterans (PHASER) Program.
Karina Melendez et al. J Pers Med 2023 13(9)
Reproductive Health
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Access to prenatal exome sequencing for fetal malformations: A qualitative landscape analysis in the US.
Nuriye N Sahin-Hodoglugil et al. Prenat Diagn 2023 -
Application of non-invasive prenatal testing to 91,280 spontaneous pregnancies and 3477 pregnancies conceived by in vitro fertilization.
Rong Wei et al. Mol Cytogenet 2023 16(1) 25
Tools/Databases
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Augmented intelligence facilitates concept mapping across different electronic health records.
Tariq A Dam et al. Int J Med Inform 2023 179105233