Published on 03/14/2024
Human Genomics across the Lifespan
Birth Defects and Child Health
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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
Cancer Genomics
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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
Hereditary Cancer
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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
Chronic Disease
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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
Ethics/Policy/Law
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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
Practice
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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
Heart, Lung, Blood and Sleep Diseases
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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
Newborn Screening
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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
Pharmacogenomics
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Empowering personalized pharmacogenomics with generative AI solutions.
Mullai Murugan et al. J Am Med Inform Assoc 2024
Reproductive Health
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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