Published on 11/16/2023
Human Genomics across the Lifespan
Birth Defects and Child Health
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Comparison of three bioinformatics tools in the detection of ASD candidate variants from whole exome sequencing data.
Apurba Shil et al. Sci Rep 2023 13(1) 18853 -
Collaborative efforts to improve genetic testing in the neonatal intensive care unit.
Bryce A Schuler et al. J Perinatol 2023 -
Clinical Utility of Proband Only Clinical Exome Sequencing in Neurodevelopmental Disorders.
Karthika Ajit Valaparambil et al. Indian J Pediatr 2023 -
Factors Associated With Underutilization of Genetic Testing in Autism Spectrum Disorders.
Nicolas J Abreu et al. Pediatr Neurol 2023 15017-23 -
The Impact of Artificial Intelligence on Optimizing Diagnosis and Treatment Plans for Rare Genetic Disorders.
Shenouda Abdallah et al. Cureus 2023 15(10) e46860 -
Genetic counselling considerations with genetic/genomic testing in Neonatal and Pediatric Intensive Care Units: A scoping review.
Sunu Kim et al. Clin Genet 2023 -
Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for rare disease patients in a publicly-funded healthcare system: a prospective cohort study.
Taila Hartley et al. Genet Med 2023 101012
Cancer Genomics
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A DNA Replication Stress-Based Prognostic Model for Lung Adenocarcinoma.
S Shi et al. Acta Naturae 2023 15(3) 100-110 -
Clinical utility of a microRNA classifier in cytologically indeterminate thyroid nodules with RAS mutations: A multi-institutional study.
Abhinay Tumati et al. Surgery 2023 -
Danish Prostate Cancer Consortium Study 1 (DPCC-1) protocol: Multicentre prospective validation of the urine-based three-microRNA biomarker model uCaP.
Jacob Fredsøe et al. BMJ Open 2023 13(11) e077020 -
Clinical evaluation of the clinicopathologic and gene expression profile (CP-GEP) in patients with melanoma eligible for sentinel lymph node biopsy: A multicenter prospective Dutch study.
Robert C Stassen et al. Eur J Surg Oncol 2023 49(12) 107249 -
Socioeconomic Impact of OncotypeDX on Breast Cancer Treatment: Preliminary Results.
Gianluca Vanni et al. In Vivo 2023 37(6) 2510-2516 -
Prospective Clinical Prognostication of Endometrial Carcinomas Based on Next-Generation Sequencing and Immunohistochemistry-Real-World Implementation and Results at a Tertiary Care Center.
Kurtis D Davies et al. Int J Gynecol Pathol 2023 -
Virtual Molecular and Precision Medicine Clinic to Improve Access to Clinical Trials for Patients With Metastatic Breast Cancer: An Academic/Community Collaboration.
Laura M Spring et al. JCO Oncol Pract 2023 OP2300193
Hereditary Cancer
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Pathogenic germline variants in BRCA1/2 and p53 identified by real-world comprehensive cancer genome profiling tests in Asian patients.
Tomoyuki Satake et al. Cancer Res Commun 2023 -
Experiences of Family Communication and Cascade Genetic Testing for Hereditary Cancer in Medically Underserved Populations-A Qualitative Study.
Erica M Bednar et al. Cancer Prev Res (Phila) 2023 -
An analysis of the impact of annual cancer genetic testing guideline updates on a past patient population.
Jordan Johnson et al. J Genet Couns 2023 -
Patient decisions regarding cancer gene panel testing: An exploratory study.
Margaret M Emmet et al. J Genet Couns 2023 -
Prognosis of CDKN2A germline mutation in patients with familial melanoma: a systematic review and meta-analysis.
Ana Taibo et al. Melanoma Res 2023 -
Diagnostic Outcomes of Concurrent DNA and RNA Sequencing in Individuals Undergoing Hereditary Cancer Testing.
Carolyn Horton et al. JAMA Oncol 2023 -
Referral, Uptake, and Outcome of Genetic Counseling and Testing in Patients With Early-Onset Colorectal Cancer.
Hareem Syed et al. J Natl Compr Canc Netw 2023 21(11) 1156-1163.e5 -
Chatbot Artificial Intelligence for Genetic Cancer Risk Assessment and Counseling: A Systematic Review and Meta-Analysis.
Emily M Webster et al. JCO Clin Cancer Inform 2023 7e2300123 -
Development of a Hereditary Breast and Ovarian Cancer and Genetics Curriculum for Community Health Workers: KEEP IT (Keeping Each other Engaged Program via IT) Community Health Worker Training.
Caitlin G Allen et al. J Cancer Educ 2023
Chronic Disease
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Levodopa-induced dyskinesia in early-onset Parkinson's disease (EOPD) associates with glucocerebrosidase mutation: A next-generation sequencing study in EOPD patients in Thailand.
Sekh Thanprasertsuk et al. PLoS One 2023 18(10) e0293516
Ethics/Policy/Law
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Navigating Next-Generation Sequencing Laboratory Developed Tests: A Critical Look at Proficiency Testing, US Food and Drug Administration Regulations, and Clinical Laboratory Performance.
Shuko Harada et al. Arch Pathol Lab Med 2023 -
Public engagement with genomics.
Anna Middleton et al. Wellcome Open Res 2023 8310
Practice
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Personalising genetic counselling (POETIC) trial: Protocol for a hybrid type II effectiveness-implementation randomised clinical trial of a patient screening tool to improve patient empowerment after cancer genetic counselling.
Laura E Forrest et al. Trials 2023 24(1) 712 -
The GenoVA study: Equitable implementation of a pragmatic randomized trial of polygenic-risk scoring in primary care.
Jason L Vassy et al. Am J Hum Genet 2023 110(11) 1841-1852 -
Envisioning a new era: Complete genetic information from routine, telomere-to-telomere genomes.
Karen H Miga et al. Am J Hum Genet 2023 110(11) 1832-1840 -
The estimated annual financial impact of gene therapy in the United States.
Chi Heem Wong et al. Gene Ther 2023
Heart, Lung, Blood and Sleep Diseases
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Familial hypercholesterolemia is related to cardiovascular disease, heart failure and atrial fibrillation. Results from a population-based study.
Hayato Tada et al. Eur J Clin Invest 2023 e14119 -
Real-world utilization of guideline-directed genetic testing in inherited cardiovascular diseases.
Mauro Longoni et al. Front Cardiovasc Med 2023 101272433 -
Diagnostic Yield of Exome Sequencing in Pediatric Cardiomyopathy.
Julia Keisling et al. J Pediatr 2023 113808
Pharmacogenomics
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Pharmacogenomics in clinical trials: an overview.
Rita Nogueiras-Álvarez et al. Front Pharmacol 2023 141247088 -
Advancing pharmacogenetic testing in a tertiary hospital: a retrospective analysis after 10 years of activity.
Stefan Stewart et al. Front Pharmacol 2023 141292416
Reproductive Health
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Chromosome microarray analysis combined with karyotype analysis is a powerful tool for the detection in pregnant women with high-risk indicators.
Guanhua Qian et al. BMC Pregnancy Childbirth 2023 23(1) 784 -
Prenatal and postnatal genetic testing toward personalized care: The non-invasive perinatal testing.
Lilla Botos et al. Mol Cell Probes 2023 101942