Published on 07/05/2023
Human Genomics across the Lifespan
Birth Defects and Child Health
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Organizational Aspects of the Implementation and Use of Whole Genome Sequencing and Whole Exome Sequencing in the Pediatric Population in Italy: Results of a Survey.
Mario Cesare Nurchis et al. J Pers Med 2023 13(6) -
Real Evidence and Misconceptions about Malignant Hyperthermia in Children: A Narrative Review.
Luciano Frassanito et al. J Clin Med 2023 12(12)
Cancer Genomics
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Clinical Utility of Optical Genome Mapping and 523-Gene Next Generation Sequencing Panel for Comprehensive Evaluation of Myeloid Cancers.
Nikhil Shri Sahajpal et al. Cancers (Basel) 2023 15(12) -
Inappropriate Multi-Target Stool DNA Use for Colorectal Cancer Screening: Risks, Compliance, and Outcomes.
Nicholas J Lazar et al. Cureus 2023 15(6) e40506 -
A three-gene signature marks the time to locoregional recurrence in luminal-like breast cancer.
C Chiodoni et al. ESMO Open 2023 8(4) 101590 -
Influence of Colorectal Cancer Risk Factors on Predictive Value of a Positive Multitarget Stool DNA Test.
Kaden R Narayani et al. J Clin Gastroenterol 2023 -
Cost-Effectiveness Analysis of Three Diagnostic Strategies for the Detection of EGFR Mutation in Advanced Non-Small Cell Lung Cancer.
Sun Mi Cho et al. Ann Lab Med 2023 43(6) 605-613 -
Parents' and adolescents' perspectives and understanding of information about childhood cancer precision medicine.
Jessica M Gereis et al. Cancer 2023 -
Study of Liquid-Based Cytology Using Next-Generation Sequencing as a Liquid Biopsy Application in Patients with Advanced Oncological Disease.
Karla Beatríz Peña et al. Biomedicines 2023 11(6)
Hereditary Cancer
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Association of the CHEK2 c.1100delC variant, radiotherapy, and systemic treatment with contralateral breast cancer risk and breast cancer-specific survival.
Anna Morra et al. Cancer Med 2023 -
Implementation of Nurse Navigation Improves Rate of Molecular Tumor Testing for Ovarian Cancer in a Gynecologic Oncology Practice.
Taylor A Rives et al. Cancers (Basel) 2023 15(12) -
Integration of Genetic Testing and Counseling in Patients With Breast Cancer in a Large, Multisite Community-Based Practice.
Molly A Mendenhall et al. JCO Oncol Pract 2023 OP2200794 -
The relationship between family history of cancer and cancer attitudes & beliefs within the Community Initiative Towards Improving Equity and Health Status (CITIES) cohort.
Li Lin et al. PLoS One 2023 18(6) e0287629 -
Meta-Analysis of Breast Cancer Risk for Individuals with PALB2 Pathogenic Variants.
Thanthirige Lakshika M Ruberu et al. medRxiv 2023 -
Patient decision support resources inform decisions about cancer susceptibility genetic testing and risk management: a systematic review of patient impact and experience.
Kelly Kohut et al. Front Health Serv 2023 31092816 -
Germline Genetic Testing Among Women ≤ 45 Years of Age with Ductal Carcinoma In Situ Versus Invasive Breast Cancer in a Large Integrated Health Care System.
Diana S Hsu et al. Ann Surg Oncol 2023 -
Multiple Germline Events Contribute to Cancer Development in Patients with Li-Fraumeni Syndrome.
Vallijah Subasri et al. Cancer Res Commun 2023 3(5) 738-754 -
Parents' expectations, preferences, and recall of germline findings in a childhood cancer precision medicine trial.
Brittany C McGill et al. Cancer 2023 -
Germline DNA Repair Genes Pathogenic Variants Among Mexican Patients With Prostate Cancer.
Yanin Chávarri-Guerra et al. Clin Genitourin Cancer 2023
Chronic Disease
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Genetic Testing in Parkinson's Disease.
Gian Pal et al. Mov Disord 2023 -
Risk-conferring HLA variants in an epilepsy cohort: benefits of multifaceted use of whole genome sequencing in clinical practice.
Angeliki Vakrinou et al. J Neurol Neurosurg Psychiatry 2023 -
Remember This: Age Moderation of Genetic and Environmental Contributions to Verbal Episodic Memory from Midlife through Late Adulthood.
Susan E Luczak et al. Intelligence 2023 99 -
Genetics of diabetes.
Shiwali Goyal et al. World J Diabetes 2023 14(6) 656-679
Ethics/Policy/Law
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Patients' perspectives related to ethical issues and risks in precision medicine: a systematic review.
Lawko Ahmed et al. Front Med (Lausanne) 2023 101215663 -
Connecting the Dots: Carrier Screening and the Genetic Information Nondiscrimination Act in the United States.
Stephanie M Rice et al. Prenat Diagn 2023 -
Privacy Implications of Contacting the At-Risk Relatives of Patients with Medically Actionable Genetic Predisposition, with Patient Consent: A Hypothetical Australian Case Study.
Jane Tiller et al. BioTech (Basel) 2023 12(2) -
Utilization of genetic information for medicines development and equitable benefit sharing.
Kotone Matsuyama et al. Front Genet 2023 141085864 -
Intensive Care Clinicians' Perspectives on Ethical Challenges Raised by Rapid Genomic Testing in Critically Ill Infants.
Sachini Poogoda et al. Children (Basel) 2023 10(6)
Practice
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Genetic counselors' research dissemination practices and attitudes.
Emma Blanche et al. J Genet Couns 2023
Heart, Lung, Blood and Sleep Diseases
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Genome Editing for Cystic Fibrosis.
Guoshun Wang et al. Cells 2023 12(12) -
Development of a haemophilia A gene therapy shared decision-making tool for clinicians.
Jacqueline Limjoco et al. Haemophilia 2023 -
Genetic and non-genetic components of family history of stroke and heart disease: a population-based study among adopted and non-adopted individuals.
Ernst Mayerhofer et al. medRxiv 2023 -
The Role of Hyposthenuria in Enuresis Among Paediatric Patients With Sickle Cell Disease.
Jasim N Al-Asadi et al. Sultan Qaboos Univ Med J 2023 23(2) 206-211 -
Clinical Outcomes and Genetic Analyses of Restrictive Cardiomyopathy in Children.
Hidekazu Ishida et al. Circ Genom Precis Med 2023 e004054 -
Acute Myocardial Infarction in Patients with Hereditary Thrombophilia-A Focus on Factor V Leiden and Prothrombin G20210A.
Minerva Codruta Badescu et al. Life (Basel) 2023 13(6) -
Clinician Perspectives on Clinical Decision Support for Familial Hypercholesterolemia.
Hana Bangash et al. J Pers Med 2023 13(6) -
The revolution of personalized pharmacotherapies for cystic fibrosis: what does the future hold?
Kathryn E Oliver et al. Expert Opin Pharmacother 2023 -
Evaluating the Discriminatory Ability of the Sickle Cell Data Collection Program's Administrative Claims Case Definition in Identifying Adults With Sickle Cell Disease: Validation Study.
Ashima Singh et al. JMIR Public Health Surveill 2023 9e42816 -
Proteomics and Lipidomics to unveil the contribution of PCSK9 beyond cholesterol lowering: a narrative review.
Erica Gianazza et al. Front Cardiovasc Med 2023 101191303 -
Clinical Profiles of Children With Sickle Cell Anaemia Presenting With Acute Clinical Events: A Single-Center Study.
Anwesha Singh et al. Cureus 2023 15(5) e39008 -
Genetic Evaluation and Screening in Cardiomyopathies: Opportunities and Challenges for Personalized Medicine.
Sahana Aiyer et al. J Pers Med 2023 13(6)
Pharmacogenomics
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Personalizing Personalized Medicine: The Confluence of Pharmacogenomics, a Person's Medication Experience and Ethics.
Timothy P Stratton et al. Pharmacy (Basel) 2023 11(3) -
Polygenic risk scores in pharmacogenomics: opportunities and challenges-a mini review.
Aurélien Simona et al. Front Genet 2023 141217049 -
Pharmacogenetic Sex-Specific Effects of Methotrexate Response in Patients with Rheumatoid Arthritis.
Francisco C Ceballos et al. Pharmaceutics 2023 15(6) -
Pharmacogenetics of Lethal Opioid Overdose: Review of Current Evidence and Preliminary Results from a Pilot Study.
Leen Magarbeh et al. J Pers Med 2023 13(6)
Reproductive Health
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The predictive value of noninvasive prenatal screening for copy number variations: a cohort study and a systematic meta-analysis.
Li Wen et al. Expert Rev Mol Diagn 2023 -
Association analysis between chromosomal abnormalities and fetal ultrasonographic soft markers based on 15,263 fetuses.
Lijuan Pan et al. Am J Obstet Gynecol MFM 2023 101072 -
Noninvasive prenatal screening (NIPS) for fetal chromosome abnormalities in a general-risk population: An evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG).
Jeffrey S Dungan et al. Genet Med 2023 100874 -
A Deep-Learning-Based Method Can Detect Both Common and Rare Genetic Disorders in Fetal Ultrasound.
Jiajie Tang et al. Biomedicines 2023 11(6)