Published on 10/19/2023
Human Genomics across the Lifespan
Birth Defects and Child Health
-
Mutations in genes related to myocyte contraction and ventricular septum development in non-syndromic tetralogy of Fallot.
Drayton C Harvey et al. Front Cardiovasc Med 2023 101249605 -
The Parent PrU: a measure to assess personal utility of pediatric genomic results.
Erin Turbitt et al. Genet Med 2023 100994
Cancer Genomics
-
Prediction of clinically significant prostate cancer through urine metabolomic signatures: A large-scale validated study.
Hsiang-Po Huang et al. J Transl Med 2023 21(1) 714 -
Real-World Cost Effectiveness of a Policy of KRAS Testing to Inform Cetuximab or Panitumumab for Third-Line Therapy of Metastatic Colorectal Cancer in British Columbia, Canada.
Reka E Pataky et al. Pharmacoecon Open 2023 -
Diagnosis and Treatment of Advanced ALK Rearrangement-Positive Non-Small-Cell Lung Cancer in Portugal: Results of a National Questionnaire.
Ana Figueiredo et al. Drugs Real World Outcomes 2023 -
High accuracy of a blood ctDNA-based multimodal test to detect colorectal cancer.
X Bessa et al. Ann Oncol 2023
Hereditary Cancer
-
"I just wanted more": Hereditary cancer syndromes patients' perspectives on the utility of circulating tumour DNA testing for cancer screening.
Ella Adi-Wauran et al. Eur J Hum Genet 2023 -
Universal Germline-Genetic Testing for Breast Cancer: Implementation in a Rural Practice and Impact on Shared Decision-Making.
Charles Shelton et al. Ann Surg Oncol 2023 -
Racial Disparities in Accessing Care along the Continuum of Cancer Genetic Service Delivery.
Ingrid M Wagner et al. Cancer Epidemiol Biomarkers Prev 2023 -
Male awareness of prostate cancer risk remains poor in relatives of women with germline variants in DNA-repair genes.
Vittorio Fasulo et al. BJUI Compass 2023 4(6) 738-745 -
Genetic risk assessment in breast and gynecologic malignancies- what's to know in 2024?
Daniella Kamara et al. Curr Opin Obstet Gynecol 2023 -
BRCA1/2 mutation carriers & risk reducing mastectomy: Who undergoes surgery and potential benefits.
Sydney M Record et al. Am J Surg 2023 -
Implementation of Risk-Stratified Breast Cancer Prevention With a Polygenic Risk Score Test in Clinical Practice.
Peeter Padrik et al. Breast Cancer (Auckl) 2023 1711782234231205700
Chronic Disease
-
Genetic Inhibition of APOL1 Pore-Forming Function Prevents APOL1-Mediated Kidney Disease.
Adriana M Hung et al. J Am Soc Nephrol 2023 -
The Clinical Utility of Genetic Testing in the Diagnosis and Management of Adults With Chronic Kidney Disease.
Neera Dahl et al. J Am Soc Nephrol 2023 -
Identification of monogenic diabetes in an Australian cohort using the Exeter maturity-onset diabetes of the young (MODY) probability calculator and next-generation sequencing gene panel testing.
Sunita M C De Sousa et al. Acta Diabetol 2023 -
Empowering Family Glaucoma Risk Communication Using QR-code Mediated Online Intervention.
Shahin Hallaj et al. Ophthalmol Glaucoma 2023
Practice
-
Use of a multi-phased approach to identify and address facilitators and barriers to the implementation of a population-wide genomic screening program.
Caitlin G Allen et al. Implement Sci Commun 2023 4(1) 122 -
Perceived barriers, recommendations, and resources for multistate licensure in the United States: A mixed-methods study of laboratory genetic counselors.
Mia S Mackall et al. J Genet Couns 2023 -
Growth in perceived clinical genetics competency among primary care providers participating in genomic population health screening.
Christina A Hansen et al. J Community Genet 2023
Heart, Lung, Blood and Sleep Diseases
-
Outcomes and long-term effects of hematopoietic stem cell transplant in sickle cell disease.
Zaina Inam et al. Expert Rev Hematol 2023 -
How and Why to Organize Family-Based Screening Clinics for Hypertrophic Cardiomyopathy.
Bryana J Rivers et al. Can J Cardiol 2023 -
Sarcomeric gene variants among Indians with hypertrophic cardiomyopathy: A scoping review.
Linda Koshy et al. Indian J Med Res 2023 158(2) 119-135 -
Genetic and Nongenetic Components of Stroke Family History: A Population Study of Adopted and Nonadopted Individuals.
Ernst Mayerhofer et al. J Am Heart Assoc 2023 12(20) e031566 -
Generation and validation of a classification model to diagnose familial hypercholesterolaemia in adults.
João Albuquerque et al. Atherosclerosis 2023 383117314 -
Genomic science of risk prediction for venous thromboembolic disease: convenient clarification or compounding complexity.
Jihee Han et al. J Thromb Haemost 2023
Newborn Screening
-
Implementation of Hospital-Based Sickle Cell Newborn Screening and Follow-Up Programs in Haiti.
Ofelia A Alvarez et al. Blood Adv 2023 -
Factors Associated With Awareness Of Literate Mothers About Newborn Screening: A Cross-Sectional Study From A Low-Middle-Income Country.
Hafsa Majid et al. J Pak Med Assoc 2023 73(9) 1805-1810 -
[Genomic newborn screening-research approaches, challenges, and opportunities].
Heiko Brennenstuhl et al. Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz 2023
Pharmacogenomics
-
Cost-utility analysis and cross-country comparison of pharmacogenomics-guided treatment in colorectal cancer patients participating in the U-PGx PREPARE study.
Vasileios Fragoulakis et al. Pharmacol Res 2023 106949 -
Introduction to pharmacogenetics.
John Henry McDermott et al. Drug Ther Bull 2023 -
Evaluation of malignant hyperthermia features in patients with pathogenic or likely pathogenic RYR1 variants disclosedthrough a population genomic screening program.
Kristen D Yu et al. Anesthesiology 2023 -
Pharmacogenetics to prevent hypersensitivity reactions to antiepileptic drugs: is testing performed when indicated?
Vy L Bui et al. Pharmacogenet Genomics 2023
Reproductive Health
-
Exploring factors impacting haplotype-based noninvasive prenatal diagnosis for single-gene recessive disorders.
Lingrong Kong et al. Clin Genet 2023 -
Changing the standardised obstetric care by expanded carrier screening and counselling: a multicentre prospective cohort study.
Han-Ying Chen et al. J Med Genet 2023 -
Benefits and concerns of expanded carrier screening: what do pregnant Latina women in Texas think?
Embedzayi Madhiri et al. J Community Genet 2023