Published on 12/17/2020
Human Genomics across the Lifespan
Birth Defects and Child Health
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Benefits of clinical criteria and high-throughput sequencing for diagnosing children with syndromic craniosynostosis.
Tønne Elin et al. European journal of human genetics : EJHG 2020 Dec -
Measurement of genetic diseases as a cause of mortality in infants receiving whole genome sequencing.
Kingsmore Stephen F et al. NPJ genomic medicine 2020 Nov 5(1) 49 -
Improving the Management of Patients with Hearing Loss by the Implementation of an NGS Panel in Clinical Practice.
García-García Gema et al. Genes 2020 Dec 11(12)
Cancer Genomics
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Development and Validation of a Tool Integrating the 21-Gene Recurrence Score and Clinical-Pathological Features to Individualize Prognosis and Prediction of Chemotherapy Benefit in Early Breast Cancer.
Sparano Joseph A et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2020 Dec JCO2003007 -
Spectrum of Somatic Cancer Gene Variations Among Adults With Appendiceal Cancer by Age at Disease Onset.
Holowatyj Andreana N et al. JAMA network open 2020 Dec 3(12) e2028644 -
The run-in phase of the prospective WSG-ADAPT HR+/HER2- trial demonstrates the feasibility of a study design combining static and dynamic biomarker assessments for individualized therapy in early breast cancer.
Nitz Ulrike et al. Therapeutic advances in medical oncology 2020 121758835920973130
Hereditary Cancer
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Lynch Syndrome-Associated Variants and Cancer Rates in an Ancestrally Diverse Biobank.
Rosenblum Rachel E et al. JCO precision oncology 2020 4 -
A Collaborative Effort to Define Classification Criteria for ATM Variants in Hereditary Cancer Patients.
Feliubadaló Lidia et al. Clinical chemistry 2020 Dec
Chronic Disease
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Genetic variants in glutamate-, Aβ-, and tau-related pathways determine polygenic risk for Alzheimer's disease.
Lawingco Ted et al. Neurobiology of aging 2020 Nov -
Genetics-first approach improves diagnostics of ESKD patients younger than 50 years.
Snoek Rozemarijn et al. Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2020 Dec
Ethics/Policy/Law
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A Qualitative Study to Develop a Privacy and Nondiscrimination Best Practice Framework for Personalized Wellness Programs.
Hendricks-Sturrup Rachele M et al. Journal of personalized medicine 2020 Dec 10(4) -
From proband to provider: is there an obligation to inform genetic relatives of actionable risks discovered through direct-to-consumer genetic testing?
Parsons Jordan A et al. Journal of medical ethics 2020 Dec
Practice
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Exploring Attitudes, Subjective Norms and Perceived Behavioural Control in a Genetic-Based and a Population-Based Weight Management Intervention: A One-Year Randomized Controlled Trial.
Horne Justine R et al. Nutrients 2020 Dec 12(12) -
Polygenic Risk Scores for Genetic Counseling in Psychiatry: Lessons Learned from other Fields of Medicine.
Eeltink E et al. Neuroscience and biobehavioral reviews 2020 Dec -
Better Together: Clinical and Genomic Data to Inform Shared Decision Making.
Crew Katherine D et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2020 Dec JCO2003234 -
Healthcare Professional Clinical Actions following Nutrigenomics Testing in Practice.
Karamanoglu Irem et al. Public health genomics 2020 Dec 1-9
Heart, Lung, Blood and Sleep Diseases
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Genetic variants associated with therapy-related cardiomyopathy among childhood cancer survivors of African ancestry.
Sapkota Yadav et al. Cancer research 2020 Dec -
Genetic testing is essential for initiating statin therapy in children with familial hypercholesterolemia: Examples from Scandinavia.
Svendsen Karianne et al. Atherosclerosis 2020 Dec 31648-52 -
Growth, Body Composition, and Lung Function in Prepubertal Children with Cystic Fibrosis Diagnosed by Newborn Screening.
Owen Elizabeth et al. Nutrition in clinical practice : official publication of the American Society for Parenteral and Enteral Nutrition 2020 Dec -
Performance and clinical utility of supervised machine-learning approaches in detecting familial hypercholesterolaemia in primary care.
Akyea Ralph K et al. NPJ digital medicine 2020 Oct 3(1) 142 -
Post-Transcriptional Genetic Silencing of BCL11A to Treat Sickle Cell Disease.
Esrick Erica B et al. The New England journal of medicine 2020 Dec
Newborn Screening
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Health and economic outcomes of newborn screening for infantile-onset Pompe disease.
Richardson John S et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Dec
Pharmacogenomics
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Pharmacogenetic Study of Trabectedin-Induced Severe Hepatotoxicity in Patients with Advanced Soft Tissue Sarcoma.
Maillard Maud et al. Cancers 2020 Dec 12(12) -
Effect of Routine Cytochrome P450 2D6 and 2C19 Genotyping on Antipsychotic Drug Persistence in Patients With Schizophrenia: A Randomized Clinical Trial.
Jürgens Gesche et al. JAMA network open 2020 Dec 3(12) e2027909 -
Prevalence and types of inconsistencies in clinical pharmacogenetic recommendations among major U.S. sources.
Shugg Tyler et al. NPJ genomic medicine 2020 Oct 5(1) 48 -
Genetic factors influencing the development of vincristine-induced neurotoxicity.
Pozzi Eleonora et al. Expert opinion on drug metabolism & toxicology 2020 Dec 1-12 -
Technologies for Pharmacogenomics: A Review.
van der Lee Maaike et al. Genes 2020 Dec 11(12)
Reproductive Health
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Prenatal Detection of Uniparental Disomies (UPD): Intended and Incidental Finding in the Era of Next Generation Genomics.
Eggermann Thomas et al. Genes 2020 Dec 11(12) -
Comprehensive preimplantation genetic testing by massively parallel sequencing.
Chen Songchang et al. Human reproduction (Oxford, England) 2020 Dec