Published on 05/11/2023
Human Genomics across the Lifespan
Birth Defects and Child Health
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An artificial intelligence-based approach for identifying rare disease patients using retrospective electronic health records applied for Pompe disease.
Simon Lin et al. Front Neurol 2023 141108222 -
Real-Life Outcome After Gene Replacement Therapy for Spinal Muscular Atrophy: A Multicenter Experience.
Itay Tokatly Latzer et al. Pediatr Neurol 2023 14460-68 -
Relationship between care pathway features and use or non-use of orthotic devices by individuals with Charcot-Marie-Tooth disease: a cross-sectional, exploratory study.
Cédric Blouin et al. Disabil Rehabil 2023 1-11
Cancer Genomics
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Circulating Cell-Free Tumor Deoxyribonucleic Acid Analysis as a Tool for the Diagnosis and Monitoring of Pediatric Solid Tumors.
Luca Zaninovic et al. Turk Arch Pediatr 2023 58(3) 241-249 -
Tumor Genomic Profile Is Associated With Arterial Thromboembolism Risk in Patients With Solid Cancer.
Stephanie Feldman et al. JACC CardioOncol 2023 5(2) 246-255 -
Genomic classifier performance in intermediate-risk prostate cancer: Results from NRG Oncology/RTOG 0126 randomized phase III trial.
Daniel E Spratt et al. Int J Radiat Oncol Biol Phys 2023 -
Do more targets allow more cancer treatments, or not?
Paolo Marchetti et al. Eur J Cancer 2023 18799-104 -
Cost-effectiveness of an urinary biomarker panel in combination with MRI for prostate cancer diagnosis.
Tim M Govers et al. World J Urol 2023 -
Smaller panel, similar results: genomic profiling and molecularly informed therapy in pancreatic cancer.
T M Reissig et al. ESMO Open 2023 8(3) 101539 -
Application of Comprehensive Genomic Profiling-Based Next-Generation Sequencing Assay to Improve Cancer Care in a Developing Country.
Claudia Cifuentes et al. Cancer Control 2023 3010732748231175256
Hereditary Cancer
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Predictive factors based on the health belief model on cancer screening behaviour in first degree relatives of patients with Lynch syndrome-associated colorectal cancer.
Jiaojiao Gu et al. Int J Nurs Sci 2023 10(2) 251-257 -
BRCA1/2 testing rates in epithelial ovarian cancer: a focus on the untested patients.
Lieke Lanjouw et al. Int J Gynecol Cancer 2023 -
Distress, anxiety, and depression in persons with hereditary cancer syndromes: Results from a nationwide cross-sectional study in Germany.
Anna Maria Kastner et al. Cancer Med 2023 -
Addressing disparities in the uptake of genetic counseling and testing in African American women; rationale, design and methods.
Vanessa B Sheppard et al. Contemp Clin Trials 2023 107210 -
Validation of lung cancer polygenic risk scores in a high-risk case-control cohort.
Mikey B Lebrett et al. Genet Med 2023 100882 -
Pancreatic Cancer Screening for At-risk Individuals (Pancreas Scan Study): Yield, Harms and Outcomes from a Prospective Multi-Center Study.
Ishani Shah et al. Am J Gastroenterol 2023 -
A clinical screening tool to detect genetic cancer predisposition in pediatric oncology shows high sensitivity but can miss a substantial percentage of affected children.
Ulrike Anne Friedrich et al. Genet Med 2023 100875 -
Effects of a pre-visit online information tool about genetic counselling for ovarian cancer patients, a randomized controlled trial.
M M Frijstein et al. Patient Educ Couns 2023 113107786
Ethics/Policy/Law
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To use or not to use? an ethical analysis of access to data and samples of a deceased patient for genetic diagnostic and research purposes.
Mahshad Noroozi et al. J Med Ethics Hist Med 2023 1513 -
Ethics of 'Counting Me In': framing the implications of direct-to-patient genomics research.
Tenny R Zhang et al. J Med Ethics 2023
Practice
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A Review of Laboratory Practices Using the HLA-B27 Survey by the College of American Pathologists: How Important Is Allele-Level Typing?
Jeremy Ryan Andrew Peña et al. Arch Pathol Lab Med 2023 -
Development and evaluation of a novel educational program for providers on the use of polygenic risk scores.
T Yanes et al. Genet Med 2023 100876
Heart, Lung, Blood and Sleep Diseases
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Preoperative diagnosis and management of inherited bleeding disorders in female adolescents and adults.
R Douglas Wilson et al. Can J Surg 2023 66(3) E246-E263 -
2023 Update on European Atherosclerosis Society Consensus Statement on Homozygous Familial Hypercholesterolaemia: new treatments and clinical guidance.
Marina Cuchel et al. Eur Heart J 2023 -
Lung clearance index in children with cystic fibrosis previously diagnosed with CRMS/CFSPID: A monocentric prospective experience.
Vito Terlizzi et al. Pediatr Pulmonol 2023 -
Familial hypercholesterolaemia and emerging therapeutics.
Francisco I Farias et al. Heart 2023 -
CineECG analysis provides new insights into Familial ST-segment Depression Syndrome.
Rasmus Frosted et al. Europace 2023 -
Reducing Premature Coronary Artery Disease in Malaysia by Early Identification of Familial Hypercholesterolaemia using FAMCAT Primary Care Screening Tool: A Mixed-Methods Evaluation Study Protocol.
Anis Safura Ramli et al. JMIR Res Protoc 2023 -
Genetic Testing Enables the Diagnosis of Familial Hypercholesterolemia Underdiagnosed by Clinical Criteria: Analysis of Japanese Early-Onset Coronary Artery Disease Patients.
Hiroshi Miyama et al. Cardiol Res Pract 2023 20232236422
Pharmacogenomics
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The Contribution of Pharmacogenetic Drug Interactions to 90-Day Hospital Readmissions in a Real-World Health System.
Sean David et al. Ann Fam Med 2023 (21(Suppl 1)) -
Impact of transitioning to an active, noninterruptive CYP2C19/proton pump inhibitor alert on prescribing patterns.
Amanda Massmann et al. Am J Health Syst Pharm 2023
Reproductive Health
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Acceptance of genetic editing and of whole genome sequencing of human embryos by patients with infertility before and after the onset of the COVID-19 pandemic.
Werner M Neuhausser et al. Reprod Biomed Online 2023 -
Evaluation of pre-test counselling offered for non-invasive prenatal testing (NIPT) as a primary screening tool.
Ho Yin Diana Lee et al. J Obstet Gynaecol 2023 43(1) 2204959 -
Performance of prenatal cfDNA screening for sex chromosomes.
Kimberly Martin et al. Genet Med 2023 100879