Published on 04/20/2023
Human Genomics across the Lifespan
Birth Defects and Child Health
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A new polygenic score for refractive error improves detection of children at risk of high myopia but not the prediction of those at risk of myopic macular degeneration.
Rosie Clark et al. EBioMedicine 2023 104551 -
Retrospective file review shows limited genetic services fails most patients - an argument for the implementation of exome sequencing as a first-tier test in resource-constraint settings.
Emma K Wiener et al. Orphanet J Rare Dis 2023 18(1) 81 -
Rapid Whole Genome Sequencing for Diagnosis of Single Locus Genetic Diseases in Critically Ill Children.
Mallory J Owen et al. Methods Mol Biol 2023 2621217-239
Cancer Genomics
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Cancer of unknown primary (CUP) through the lens of precision oncology: a single institution perspective.
L Weiss et al. J Cancer Res Clin Oncol 2023 -
Editorial: Application and innovation of multiomics technologies in clinical oncology.
Xinmin Li et al. Front Oncol 2023 131179829 -
Factors Associated With Receipt of Molecular Testing and its Impact on Time to Initial Systemic Therapy in Metastatic Non-Small Cell Lung Cancer.
Oyomoare L Osazuwa-Peters et al. Clin Lung Cancer 2023 -
Decreased expression of SCARA5 predicts a poor prognosis in melanoma using bioinformatics analysis.
Qinggan Ni et al. Front Oncol 2023 131015358 -
Incorporation of the 40-Gene Expression Profile (40-GEP) Test to Improve Treatment Decisions in High-Risk Cutaneous Squamous Cell Carcinoma (cSCC) Patients: Case Series and Algorithm.
Gaurav Singh et al. Clin Cosmet Investig Dermatol 2023 16925-935 -
Liquid Biopsy in Endometriosis: A Systematic Review.
Carlo Ronsini et al. Int J Mol Sci 2023 24(7) -
Diagnostic Performance of Afirma and Interpace Diagnostics Genetic Testing in Indeterminate Thyroid Nodules: A Single Center Study.
Emad Kandil et al. Cancers (Basel) 2023 15(7) -
Increased SEC23A Expression Correlates with Poor Prognosis and Immune Infiltration in Stomach Adenocarcinoma.
Su Zhaoran et al. Cancers (Basel) 2023 15(7)
Hereditary Cancer
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Web-based tool for cancer family history collection: A prospective randomized controlled trial.
Melissa K Frey et al. Gynecol Oncol 2023 17322-30 -
Increased prevalence of the founder BRCA1 c.5309G>T and recurrent BRCA2 c.1310_1313delAAGA mutations in breast cancer families from Northerstern region of Morocco: evidence of geographical specificity and high relevance for genetic counseling.
Rahma Melki et al. BMC Cancer 2023 23(1) 339 -
Ultrasound screening for thyroid nodules and cancer in individuals with family history of thyroid cancer: a micro-costing approach.
G Grani et al. J Endocrinol Invest 2023 -
Genetic Analysis of Multiple Primary Malignant Tumors in Women with Breast and Ovarian Cancer.
Alina Savkova et al. Int J Mol Sci 2023 24(7) -
Prevalence of a BRCA2 Pathogenic Variant in Hereditary-Breast-and-Ovarian-Cancer-Syndrome Families with Increased Risk of Pancreatic Cancer in a Restricted Italian Area.
Valentina Zampiga et al. Cancers (Basel) 2023 15(7)
Chronic Disease
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Genetics and Epigenetics: Implications for the Life Course of Gestational Diabetes.
William L Lowe et al. Int J Mol Sci 2023 24(7)
Ethics/Policy/Law
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Mapping the 'Ethical' Controversy of Human Heritable Genome Editing: a Multidisciplinary Approach.
Richard Pougnet et al. Asian Bioeth Rev 2023 15(2) 189-204 -
Clinical, technical, and environmental biases influencing equitable access to clinical genetics/genomics testing: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).
Dena R Matalon et al. Genet Med 2023 100812 -
Biological samples taken from Native American Ancestors are human remains under NAGPRA.
Alyssa C Bader et al. Am J Biol Anthropol 2023
Practice
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Age-related survey of clinical genetics literature and related resources.
Amelia M Solomon et al. Am J Med Genet C Semin Med Genet 2023 -
Applications of Polygenic Risk Scores in Psychiatric Genetics.
Qiao Mao et al. EC Psychol Psychiatr 2023 12(4) 19-21
Heart, Lung, Blood and Sleep Diseases
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Genetic testing in children with Brugada syndrome: results from a large prospective registry.
Luigi Pannone et al. Europace 2023 -
Genetic Testing for Familial Hypercholesterolemia in Clinical Practice.
Eric P Tricou et al. Curr Atheroscler Rep 2023 -
Primary Care Physicians' Perspectives on Identifying Familial Hypercholesterolaemia in Primary Care: A Qualitative Study.
Hasidah Abdul-Hamid et al. Ann Fam Med 2023 (21 Suppl 1) -
Thrombophilia Testing - a Systematic Review.
Lars Asmis et al. Clin Lab 2023 69(4) -
PCSK9 inhibition in atherosclerotic cardiovascular disease.
Dimitrios Delialis et al. Curr Pharm Des 2023 -
The impact of damaging epilepsy and cardiac genetic variant burden in sudden death in the young.
Megan J Puckelwartz et al. medRxiv 2023 -
Enhancing the Detection and Care of Heterozygous Familial Hypercholesterolemia in Primary Care: Cost-Effectiveness and Return on Investment.
Clara Marquina et al. Circ Genom Precis Med 2023 e003842 -
Genetic Testing and Counselling in Hypertrophic Cardiomyopathy: Frequently Asked Questions.
Francesca Girolami et al. J Clin Med 2023 12(7)
Pharmacogenomics
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Implementation of Clinical CYP3A Genotyping for Tacrolimus Dosing in A Large Kidney Transplant Program.
Emma Tillman et al. J Clin Pharmacol 2023