De novo copy number variations in candidate genomic regions in patients of severe autism spectrum disorder in Vietnam.
Hoa Thi Phuong Bui et al. PLoS One 2024 19(3) e0290936
Diagnostic utility of exome sequencing followed by research reanalysis in human brain malformations.
Daniz Kooshavar et al. Brain Commun 2024 6(2) fcae056
What do parents of nonverbal and minimally verbal autistic children think about genomic autism research?
Kathryn Asbury et al. Autism 2024 13623613231213431
Patient experiences and perceived value of genetic testing in inherited retinal diseases: a cross-sectional survey.
Alexis Ceecee Britten-Jones et al. Sci Rep 2024 14(1) 5403
An extra X chromosome among adult women in the Million Veteran Program: A more benign perspective of trisomy X.
Shanlee M Davis et al. Am J Med Genet C Semin Med Genet 2024 e32083
Genome-matched treatments and patient outcomes in the Maine Cancer Genomics Initiative (MCGI).
Eric C Anderson et al. NPJ Precis Oncol 2024 8(1) 67
Exploring the impact and utility of genomic sequencing in established CKD.
Julia Jefferis et al. Clin Kidney J 2024 17(3) sfae043
Survey of service needs to embed genome sequencing for motor neuron disease in neurology in the English National Health Service.
Jade Howard et al. J Med Genet 2024
Taking the risk. A systematic review of ethical reasons and moral arguments in the clinical use of polygenic risk scores.
Lara Andreoli et al. Am J Med Genet A 2024 e63584
The Potential and Challenges of Genomics Informed Precision Care for Substance Use Disorders.
Rose Mary Xavier et al. J Psychosoc Nurs Ment Health Serv 2024 62(3) 11-14
Research biobank participants attitudes towards genetic exceptionalism and health record confidentiality.
Victoria Dortenzio et al. J Community Genet 2024
The ethics of polygenic scores in psychiatry: minefield or opportunity for patient-centered psychiatry?
Roel H P Wouters et al. Psychiatr Genet 2024 34(2) 31-36
Public health genomics research in Italy: an overview of ongoing projects.
Erica Pitini et al. Front Public Health 2024 121343509
Disparities in Genetic Testing for Neurologic Disorders.
Aaron Baldwin et al. Neurology 2024 102(6) e209161
Consumer attitudes and preferences toward psychiatric genetic counselling and educational resources: A scoping review.
Tessa Gatt-Rutter et al. Patient Educ Couns 2024 123108229
Estimation of carrier frequencies utilizing the gnomAD database for ACMG recommended carrier screening and Finnish disease heritage conditions in non-Finnish European, Finnish, and Ashkenazi Jewish populations.
Miska Kandolin et al. Am J Med Genet A 2024 e63588
The Role of Demographic and Clinical Factors in Germline Mutation Testing for Patients with Primary Hyperparathyroidism.
Patrick T Hangge et al. Ann Surg Oncol 2024
Dental caries in the permanent dentition and health-related quality of life among children and adolescents with sickle cell disease.
Vera Lúcia Duarte da Costa Mendes et al. Cien Saude Colet 2024 29(3) e06752023
Deep Learning-Augmented ECG Analysis for Screening and Genotype Prediction of Congenital Long QT Syndrome.
River Jiang et al. JAMA Cardiol 2024
Efficacy of Inclisiran in patients having familial hypercholesterolemia: heterozygous compared to homozygous trait, a systematic review and meta analysis.
Rahul Rai et al. Crit Pathw Cardiol 2024
Exploring the Landscape of Familial Hypercholesterolemia: Unraveling Genetic Complexity and Clinical Implications.
Fotios Barkas et al. Eur J Intern Med 2024
Etranacogene dezaparvovec gene therapy for haemophilia B (HOPE-B): 24-month post-hoc efficacy and safety data from a single-arm, multicentre, phase 3 trial.
Michiel Coppens et al. Lancet Haematol 2024
Delivery of hereditary cancer genetics services to patients newly diagnosed with ovarian and endometrial cancers at three gynecologic oncology clinics in the USA, Brazil, and Mexico.
Erica M Bednar et al. Int J Gynecol Cancer 2024
Cancer genetic counselling for hereditary breast cancer in the era of precision oncology.
M Pensabene et al. Cancer Treat Rev 2024 125102702
TARGET: A Randomized, Noninferiority Trial of a Pretest, Patient-Driven Genetic Education Webtool Versus Genetic Counseling for Prostate Cancer Germline Testing.
Stacy Loeb et al. JCO Precis Oncol 2024 8e2300552
Young Women's Perspectives on Being Screened for Hereditary Breast and Ovarian Cancer Risk During Routine Primary Care.
Mady Head et al. Womens Health Issues 2024
Mainstream Model of Genetic Testing for Prostate Cancer at a Large Tertiary Cancer Centre.
Xin Wang et al. Clin Genitourin Cancer 2024 102052
Integration and usability of a digital cancer risk stratification tool to optimize identification of patients at risk for hereditary cancers: A pilot study.
Emily M Webster et al. Gynecol Oncol 2024 1831-6
EMQN best practice guidelines for genetic testing in hereditary breast and ovarian cancer.
Trudi McDevitt et al. Eur J Hum Genet 2024
The cost-effectiveness of germline BRCA testing-guided olaparib treatment in metastatic castration resistant prostate cancer.
Srinivas Teppala et al. Int J Technol Assess Health Care 2024 40(1) e14
Economic evaluation of germline genetic testing for breast cancer in low- and middle-income countries: a systematic review.
Sook Pin Goh et al. BMC Cancer 2024 24(1) 316
Improving newborn screening test performance for metachromatic leukodystrophy: Recommendation from a pre-pilot study that identified a late-infantile case for treatment.
Teresa H Y Wu et al. Mol Genet Metab 2024 142(1) 108349
Empowering personalized pharmacogenomics with generative AI solutions.
Mullai Murugan et al. J Am Med Inform Assoc 2024
Evaluation of Nanopore Sequencing on Polar Bodies for Routine Pre-Implantation Genetic Testing for Aneuploidy.
Anna Oberle et al. Clin Chem 2024
Performance of cell-free DNA testing for common fetal trisomies in triplet pregnancies.
Hoda Zakaria et al. Prenat Diagn 2024
'Something that helped the whole picture': Experiences of parents offered rapid prenatal exome sequencing in routine clinical care in the English National Health Service.
Hannah McInnes-Dean et al. Prenat Diagn 2024
Clinical value of screening prenatal ultrasound combined with chromosomal microarrays in prenatal diagnosis of chromosomal abnormalities.
Hongru Jiang et al. J Matern Fetal Neonatal Med 2024 37(1) 2324348
Content Index
References
About Scan
This scan features emerging roles of genomics interventions across the life span. The scan focuses on various conditions including, birth defects, newborn screening, reproductive health, childhood diseases, cancer, chronic diseases, pharmacogenomics, family health history, guidelines and recommendations. The sweep also includes news, reviews, commentaries, tools and database.
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2024
- Page last updated:Mar 18, 2024
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