Published on 12/17/2020
Human Genomics across the Lifespan
Birth Defects and Child Health
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)
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
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
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
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
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
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
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
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)
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