Published on 11/10/2022
Human Genomics across the Lifespan
Birth Defects and Child Health
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New treatments in spinal muscular atrophy.
Gowda Vasantha Lakshmi et al. Archives of disease in childhood 2022 -
The implementation of an enhanced clinical model to improve the diagnostic yield of exome sequencing for patients with a rare genetic disease: A Canadian experience.
Ediae Grace Uwaila et al. American journal of medical genetics. Part A 2022
Cancer Genomics
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Biology and targetability of the extended spectrum of PIK3CA mutations (PIK3CAm) detected in breast carcinoma.
Rugo Hope S et al. Clinical cancer research : an official journal of the American Association for Cancer Research 2022 -
Implementing the European Society for Medical Oncology Scale for Clinical Actionability of Molecular Targets in a Comprehensive Profiling Program: Impact on Precision Medicine Oncology.
Martin-Romano Patricia et al. JCO precision oncology 2022 6e2100484 -
APOBEC Mutational Signatures in Hormone Receptor-Positive Human Epidermal Growth Factor Receptor 2-Negative Breast Cancers Are Associated With Poor Outcomes on CDK4/6 Inhibitors and Endocrine Therapy.
Sammons Sarah et al. JCO precision oncology 2022 6e2200149 -
Multi-cancer early detection test sensitivity for cancers with and without current population-level screening options.
Shao Spencer H et al. Tumori 2022 3008916221133136 -
Development and validation of a novel prognosis prediction model for patients with myelodysplastic syndrome.
Liang Haiping et al. Frontiers in oncology 2022 121014504 -
Comprehensive clinicopathological and genomic profiling of gallbladder cancer reveals actionable targets in half of patients.
de Bitter Tessa J J et al. NPJ precision oncology 2022 6(1) 83 -
Study protocol of the GLOW study: maximising treatment options for recurrent glioblastoma patients by whole genome sequencing-based diagnostics-a prospective multicenter cohort study.
van Opijnen Mark P et al. BMC medical genomics 2022 15(1) 233 -
Genomics improves risk stratification of adults with T-cell acute lymphoblastic leukemia patients enrolled in measurable residual disease-oriented trials.
González-Gil Celia et al. Haematologica 2022
Hereditary Cancer
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Rare Germline ATM Variants Influence the Development of Chronic Lymphocytic Leukemia.
Lampson Benjamin L et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2022 JCO2200269 -
Hereditary variants of unknown significance in African American women with breast cancer.
McDonald J Tyson et al. PloS one 2022 17(10) e0273835 -
Which Individuals with Positive Family History of Gastric Cancer Urgently Need Intensive Screening and Eradication of Helicobacter Pylori? A Systematic Review and Meta-Analysis.
He Gui et al. Iranian journal of public health 2022 50(12) 2384-2396 -
Interaction between blood pressure and genetic risk score for bladder cancer, and risk of urothelial carcinoma in men.
Teleka Stanley et al. Scientific reports 2022 12(1) 18336 -
Factors associated with the decision to undergo risk-reducing salpingo-oophorectomy among women at high risk for hereditary breast and ovarian cancer: a systematic review.
Park Sun-Young et al. Korean journal of women health nursing 2022 26(4) 285-299 -
Genetic Testing Among Patients with High-Risk Breast, Ovarian, Pancreatic, and Prostate Cancers.
Clark Nina M et al. Annals of surgical oncology 2022 -
The avoiding late diagnosis of ovarian cancer (ALDO) project; a pilot national surveillance programme for women with pathogenic germline variants in BRCA1 and BRCA2.
Philpott Sue et al. Journal of medical genetics 2022 -
Lessons from the Failure to Complete a Trial of Denosumab in Women With a Pathogenic BRCA1/2 Variant Scheduling Risk-Reducing Salpingo-Oophorectomy.
Trivedi Meghna S et al. Cancer prevention research (Philadelphia, Pa.) 2022 15(11) 721-726 -
Pediatric manifestations of Lynch Syndrome: A single center experience.
MacArthur Taleen A et al. Journal of pediatric surgery case reports 2022 86
Chronic Disease
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Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.
McKnight Dianalee et al. JAMA neurology 2022
Ethics/Policy/Law
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Genetic determinism, essentialism and reductionism: semantic clarity for contested science.
Harden K Paige et al. Nature reviews. Genetics 2022
Practice
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Patient experiences with clinical confirmatory genetic testing after using direct-to-consumer raw DNA and third-party genetic interpretation services.
Nguyen Dolphyn Tiffany T et al. Translational behavioral medicine 2022 -
Polygenic Scores in Psychiatry: On the Road From Discovery to Implementation.
Lewis Cathryn M et al. The American journal of psychiatry 2022 179(11) 800-806 -
Genome screening, reporting, and genetic counseling for healthy populations.
Casalino Selina et al. Human genetics 2022 -
Gene Therapy for Neuromuscular Diseases: Health Economic Challenges and Future Perspectives.
Landfeldt Erik et al. Journal of neuromuscular diseases 2022
Heart, Lung, Blood and Sleep Diseases
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Cardiovascular Outcomes in Patients With Both Diabetes and Phenotypic Familial Hypercholesterolemia: A Nationwide Register-Based Cohort Study.
Brinck Jonas et al. Diabetes care 2022 -
Low-density lipoprotein cholesterol goal attainment in patients with clinical evidence of familial hypercholesterolemia and elevated Lp(a).
Schwarz Andrea et al. Lipids in health and disease 2022 21(1) 114 -
Advances and Applications of Polygenic Scores for Coronary Artery Disease.
Patel Aniruddh P et al. Annual review of medicine 2022 -
The time is now: Achieving FH paediatric screening across Europe - The Prague Declaration.
Bedlington Nicole et al. GMS health innovation and technologies 2022 16Doc04 -
Family Screening in Dilated Cardiomyopathy: Prevalence, Incidence, and Potential for Limiting Follow-Up.
Vissing Christoffer R et al. JACC. Heart failure 2022 10(11) 792-803
Newborn Screening
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The importance of early diagnosis and views on newborn screening in metachromatic leukodystrophy: results of a Caregiver Survey in the UK and Republic of Ireland.
Morton Georgina et al. Orphanet journal of rare diseases 2022 17(1) 403
Pharmacogenomics
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Pharmacogenomic-guided clozapine administration based on HLA-DQB1, HLA-B and SLCO1B3-SLCO1B7 variants: an effectiveness and cost-effectiveness analysis.
Ninomiya Kohei et al. Frontiers in pharmacology 2022 131016669 -
Knowledge and attitudes of incoming pharmacy students toward pharmacogenomics and survey reliability.
Wen Ya-Feng et al. Pharmacogenomics 2022 -
Pharmacogenomics of medications given via nonconventional administration routes: a scoping review.
Socco Samantha et al. Pharmacogenomics 2022 -
Pharmacogenomics in Stroke and Cardiovascular Disease: State of the Art.
Ross Stephanie et al. Stroke 2022
Reproductive Health
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Contribution of chromosomal microarray analysis and next-generation sequencing to genetic diagnosis in fetuses with normal karyotype.
Akalin Münip et al. The journal of obstetrics and gynaecology research 2022 -
Analysis results of 579 cases of genomic copy number variation sequencing of pregnant women in prenatal diagnosis.
Huang L-L et al. European review for medical and pharmacological sciences 2022 26(20) 7572-7579