Published on 03/07/2024
Human Genomics across the Lifespan
Birth Defects and Child Health
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The majority of parents of children undergoing genetic testing report preference for earlier genetic counseling appointments.
Cami Cochrane et al. J Genet Couns 2024 -
Detecting missed diagnoses of spinal muscular atrophy in genome, exome, and panel sequencing datasets.
Ben Weisburd et al. medRxiv 2024 -
Early Onset Inherited Peripheral Neuropathies: The Experience of a Specialized Referral Center for Genetic Diagnosis Achievement.
Alessandro Geroldi et al. Pediatr Neurol 2024 1544-8
Cancer Genomics
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Integrating the 40-Gene Expression Profile (40-GEP) Test Improves Metastatic Risk-Stratification Within Clinically Relevant Subgroups of High-Risk Cutaneous Squamous Cell Carcinoma (cSCC) Patients.
Ashley Wysong et al. Dermatol Ther (Heidelb) 2024 -
Genomic drivers in craniopharyngiomas: Analysis of the AACR project GENIE database.
M Brandon Lehrich et al. Childs Nerv Syst 2024 -
Implementation of endometrial cancer molecular subtyping into a hybrid community-academic practice.
Elizabeth O Ferreira et al. Am J Clin Pathol 2024 -
A cost-consequence model of using the 21-gene assay to identify patients with early-stage node-positive breast cancer who benefit from adjuvant chemotherapy in the Netherlands.
Martijn J H G Simons et al. J Med Econ 2024 1-15
Hereditary Cancer
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The frequency of colorectal lesions in the first-degree relatives of patients with colorectal lesions among PERSIAN Guilan Cohort Study population (PGCS).
Somaieh Matin et al. BMC Gastroenterol 2024 24(1) 88
Practice
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A systematic review of the assessment of the clinical utility of genomic sequencing: Implications of the lack of standard definitions and measures of clinical utility.
Claudia Azuelos et al. Eur J Med Genet 2024 104925 -
Observations from a national sample exchange program for molecular haematology testing.
Clare Gould et al. Pathology 2024 -
The Multiple Odysseys in Research and Clinical Care for Neurogenetic Conditions.
Anne C Wheeler et al. Am J Intellect Dev Disabil 2024 129(2) 110-115 -
Additional findings from the 100,000 Genomes Project: a qualitative study of recipient perspectives.
Joshua J Nolan et al. Genet Med 2024 101103
Heart, Lung, Blood and Sleep Diseases
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Cardiomyopathies in children and adolescents: aetiology, management, and outcomes in the European Society of Cardiology EURObservational Research Programme Cardiomyopathy and Myocarditis Registry.
Juan Pablo Kaski et al. Eur Heart J 2024 -
Lipoprotein(a) testing in lipid clinics across the UK: Results of a national survey.
Saleem Ansari et al. J Clin Lipidol 2024
Newborn Screening
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Genetic Information to Share with Parents when Newborn Screening Reveals the Presence of Sickle Cell Trait.
Narcisse Elenga et al. Int J Pediatr 2024 20248910397 -
Assessment of Barriers to Referral and Appointment Wait Times for the Evaluation of Spinal Muscular Atrophy (SMA): Findings from a Web-Based Physician Survey.
Mary A Curry et al. Neurol Ther 2024
Pharmacogenomics
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Knowledge and attitudes on implementing cardiovascular pharmacogenomic testing.
Callan Russell et al. Clin Transl Sci 2024 17(3) e13737
Reproductive Health
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What importance do donors and recipients attribute to the nuclear DNA-related genetic heritage of oocyte donation?
A Mayeur et al. Hum Reprod 2024