Published on 05/09/2024
Human Genomics across the Lifespan
Birth Defects and Child Health
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Utility of next generation sequencing in paediatric neurological disorders: experience from South Africa.
Magriet van Niekerk et al. Eur J Hum Genet 2024
Cancer Genomics
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KRAS Allelic Variants in Biliary Tract Cancers.
Gordon Taylor Moffat et al. JAMA Netw Open 2024 7(5) e249840 -
Trial of Electronic Medical Record Integrated Next-Generation Sequencing Ordering in Veterans Affairs Cancer Care.
James H Stoeckle et al. JCO Precis Oncol 2024 8e2300463 -
Clinical and genomic landscape of RAS mutations in gynecologic cancers.
Ji Son et al. Clin Cancer Res 2024
Hereditary Cancer
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Cost-effectiveness of genetic testing of endocrine tumor patients using a comprehensive hereditary cancer gene panel.
Attila Patócs et al. J Clin Endocrinol Metab 2024 -
Walking the tightrope: Fertility preservation among hereditary breast and ovarian Cancer syndrome Previvors.
Sharonne Holtzman et al. Gynecol Oncol 2024 186176-181 -
Long-term oncologic outcomes of unselected triple-negative breast cancer patients according to BRCA1/2 mutations.
Woong Ki Park et al. NPJ Precis Oncol 2024 8(1) 96
Chronic Disease
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Reclassification of Variants Following Renal Genetics Testing: Uncommon Yet Impactful for Diagnosis and Management.
Euyn Lim et al. Kidney Int Rep 2024 9(5) 1441-1450 -
Polygenic Risk Score Reveals Genetic Heterogeneity of Alzheimer's Disease between the Chinese and European Populations.
F Li et al. J Prev Alzheimers Dis 2024 11(3) 701-709
Ethics/Policy/Law
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Potential corporate uses of polygenic indexes: Starting a conversation about the associated ethics and policy issues.
Michelle N Meyer et al. Am J Hum Genet 2024 111(5) 833-840 -
Genetic Research within Indigenous Communities: Engagement Opportunities and Pathways Forward.
Krysta S Barton et al. Genet Med 2024 101158 -
Advancing genomics to improve health equity.
Ebony B Madden et al. Nat Genet 2024
Heart, Lung, Blood and Sleep Diseases
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It is Time to Screen for Homozygous Familial Hypercholesterolemia in the United States.
Samuel S Gidding et al. Glob Heart 2024 19(1) 43 -
Diagnosis, treatment, and surveillance of Diamond-Blackfan anaemia syndrome: international consensus statement.
Marcin W Wlodarski et al. Lancet Haematol 2024 11(5) e368-e382 -
Evinacumab and Cardiovascular Outcome in Patients With Homozygous Familial Hypercholesterolemia.
Sophie Béliard et al. Arterioscler Thromb Vasc Biol 2024 -
Implementation of a primary-tertiary shared care model to improve the detection of familial hypercholesterolaemia (FH): a mixed methods pre-post implementation study protocol.
Karen Birkenhead et al. BMJ Open 2024 14(5) e082699 -
Cost-Effectiveness of Lovotibeglogene Autotemcel (Lovo-Cel) Gene Therapy for Patients with Sickle Cell Disease and Recurrent Vaso-Occlusive Events in the United States.
William L Herring et al. Pharmacoeconomics 2024
Newborn Screening
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Genetic counseling access and service delivery in New York State is variable for parents of infants with complex CFTR genotypes conferring uncertain phenotypes.
Denise M Kay et al. Pediatr Pulmonol 2024
Pharmacogenomics
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Pharmacogenomic Clinical Support Tools for the Treatment of Depression.
Matthew L Baum et al. Am J Psychiatry 2024 appiajp20230657
Reproductive Health
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Test performance and clinical utility of expanded non-invasive prenatal test: Experience on 71,883 unselected routine cases from one single center.
Monica Faieta et al. Prenat Diagn 2024