Published on 05/02/2024
Human Genomics across the Lifespan
Birth Defects and Child Health
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Clinical Decision Analysis of Genetic Evaluation and Testing in 1013 Intensive Care Unit Infants with Congenital Heart Defects Supports Universal Genetic Testing.
Benjamin M Helm et al. Genes (Basel) 2024 15(4) -
Navigating the outcome maze: a scoping review of outcomes and instruments in clinical trials in genetic neurodevelopmental disorders and intellectual disability.
Annelieke R Müller et al. Ther Adv Rare Dis 2024 526330040241245721 -
Evidence-based recommendations for delivering the diagnosis of X & Y chromosome multisomies in children, adolescents, and young adults: an integrative review.
Kirsten A Riggan et al. BMC Pediatr 2024 24(1) 263
Cancer Genomics
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Real-world utilization, patient characteristics, and treatment patterns among men with localized prostate cancer tested with the 17-gene genomic prostate score® (GPS) assay.
Amy M Nguyen et al. Prostate 2024 -
Profiling the molecular and clinical landscape of glioblastoma utilizing the Oncology Research Information Exchange Network brain cancer database.
Alexandra N Demetriou et al. Neurooncol Adv 2024 6(1) vdae046 -
Enhancing clinical decision support with genomic tools in breast cancer: A Scottish perspective.
A L Peters et al. Breast 2024 75103728
Hereditary Cancer
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No Racial Disparities Observed Using Point-of-Care Genetic Counseling and Testing for Endometrial and Ovarian Cancer in a Diverse Patient Population: A Retrospective Cohort Study.
Michael Kim et al. Cancers (Basel) 2024 16(8) -
National Experiences from 30 Years of Provider-Mediated Cascade Testing in Lynch Syndrome Families-The Danish Model.
Lars Joachim Lindberg et al. Cancers (Basel) 2024 16(8) -
Role of Breast Cancer Risk Estimation Models to Identify Women Eligible for Genetic Testing and Risk-Reducing Surgery.
Azzurra Irelli et al. Biomedicines 2024 12(4) -
Psychosocial barriers and facilitators for cascade genetic testing in hereditary breast and ovarian cancer: a scoping review.
Agani Afaya et al. Fam Cancer 2024 -
Endometrioid Endometrial RNA Index Predicts Recurrence in Stage I Patients.
Corrine A Nief et al. Clin Cancer Res 2024 -
Women's Knowledge of Genomic Testing and Precision Medicine in Breast Cancer Treatment Decision-Making.
Evelyn Robles-Rodriguez et al. Oncol Nurs Forum 2024 51(3) 199-208 -
Unusual cystic sebaceous neoplasm prompts cascade testing.
Ryan A Hotchkiss et al. JAAD Case Rep 2024 4764-67 -
ChatGPT accurately performs genetic counseling for gynecologic cancers.
Jharna M Patel et al. Gynecol Oncol 2024 183115-119 -
Eating Behaviors and Physical Activity versus the Big Five Personality Traits in Women with a Hereditary Predisposition to Breast or Ovarian Cancer.
Beata Pieta et al. Nutrients 2024 16(8) -
CDH1 Genotype Exploration in Women With Hereditary Lobular Breast Cancer Phenotype.
Giovanni Corso et al. JAMA Netw Open 2024 7(4) e247862
Chronic Disease
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Polygenic scores for longitudinal prediction of incident type 2 diabetes in an ancestrally and medically diverse primary care physician network: a patient cohort study.
Ravi Mandla et al. Genome Med 2024 16(1) 63 -
Danish Diabetes Birth Registry 2: a study protocol of a national prospective cohort study to monitor outcomes of pregnancies of women with pre-existing diabetes.
Sine Knorr et al. BMJ Open 2024 14(4) e082237 -
Implementing genetic testing in diabetes: Knowledge, perceptions of healthcare professionals, and barriers in a developing country.
Williams O Balogun et al. Popul Med 2024 6
Practice
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Information Provision Regarding Health-Related Direct-to-Consumer Genetic Testing for Dutch Consumers: An in-Depth Content Analysis of Sellers' Websites.
Danny Bruins et al. Genes (Basel) 2024 15(4) -
Translation, cross-cultural adaptation, and preliminary validation of a patient-reported outcome measure for genetic counseling outcomes in Sweden.
Rebecka Pestoff et al. J Genet Couns 2024
Heart, Lung, Blood and Sleep Diseases
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Genetic Modifiers of Sickle Cell Anemia Phenotype in a Cohort of Angolan Children.
Catarina Ginete et al. Genes (Basel) 2024 15(4) -
Carpal Tunnel Syndrome and Transthyretin Amyloidosis in the All of Us Research Program.
Naman S Shetty et al. Mayo Clin Proc 2024 -
An evaluation of the cost-effectiveness of population genetic screening for familial hypercholesterolemia in US patients.
Lauren E Hendy et al. Atherosclerosis 2024 393117541
Newborn Screening
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Understanding the psychological impact of identifying carrier status on young adults: A qualitative study exploring peer reactions.
Edie Bowen et al. J Genet Couns 2024 -
Cystic fibrosis newborn screening in Switzerland - evaluation and scenarios for improvement after 11 years of follow-up.
Esl Pedersen et al. J Cyst Fibros 2024 -
Long-Term Follow-Up Cares and Check Initiative: A Program to Advance Long-Term Follow-Up in Newborns Identified with a Disease through Newborn Screening.
Mei Lietsch et al. Int J Neonatal Screen 2024 10(2) -
An Opportunity to Fill a Gap for Newborn Screening of Neurodevelopmental Disorders.
Wendy K Chung et al. Int J Neonatal Screen 2024 10(2) -
Assessing the Benefits and Harms Associated with Early Diagnosis from the Perspective of Parents with Multiple Children Diagnosed with Duchenne Muscular Dystrophy.
Oindrila Bhattacharyya et al. Int J Neonatal Screen 2024 10(2) -
International Perspectives of Extended Genetic Sequencing When Used as Part of Newborn Screening to Identify Cystic Fibrosis.
Corinna C A Clark et al. Int J Neonatal Screen 2024 10(2) -
Newborn Screening Today and Tomorrow: A Brief Report from the International Primary Immunodeficiencies Congress.
Leire Solis et al. Int J Neonatal Screen 2024 10(2) -
Advancing Newborn Screening Long-Term Follow-Up: Integration of Epic-Based Registries, Dashboards, and Efficient Workflows.
Katherine Raboin et al. Int J Neonatal Screen 2024 10(2)
Pharmacogenomics
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Do future healthcare professionals advocate for pharmacogenomics? A study on medical and health sciences undergraduate students.
Hanan Al-Suhail et al. Front Pharmacol 2024 151377420 -
Clinician perspectives regarding CYP2C19 genotype testing in patients with critical limb ischemia: A Delphi approach.
Christopher Regan et al. Vascular 2024 17085381241246318 -
Recommendations for pharmacogenetic testing in clinical practice guidelines in the US.
Daniel L Hertz et al. Am J Health Syst Pharm 2024
Reproductive Health
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Approach and Management of Pregnancies with Risk Identified by Non-Invasive Prenatal Testing.
Miruna Gug et al. J Pers Med 2024 14(4) -
Prenatal Diagnosis by Trio Clinical Exome Sequencing: Single Center Experience.
Katia Margiotti et al. Curr Issues Mol Biol 2024 46(4) 3209-3217 -
Understanding the Awareness of Prenatal Genetic Screening Tests Among Pregnant Women in India: A Cross-Sectional Study.
Sangeetha Arumugam et al. Cureus 2024 16(3) e56932 -
Screening of premature ovarian insufficiency associated genes in Hungarian patients with next generation sequencing.
Anett Illés et al. BMC Med Genomics 2024 17(1) 98