Published on 11/19/2020
Human Genomics across the Lifespan
Birth Defects and Child Health
Executive Summary of the Consensus Document on the Diagnosis and Management of Patients with Primary Immunodeficiencies.
Cordero Elisa et al. Enfermedades infecciosas y microbiologia clinica 2020 Nov 38(9) 438-443
Revisiting the clinical impact of variants in EFHC1 in patients with different phenotypes of genetic generalized epilepsy.
Gonsales Marina C et al. Epilepsy & behavior : E&B 2020 Nov 112107469
Identification of a 6-gene signature for the survival prediction of breast cancer patients based on integrated multi-omics data analysis.
Mo Wenju et al. PloS one 2020 15(11) e0241924
Initiatives to Scale Up and Expand Reach of Cancer Genomic Services Outside of Specialty Clinical Settings: A Systematic Review.
Guan Yue et al. American journal of preventive medicine 2020 Nov
Study protocol: Whole genome sequencing Implementation in standard Diagnostics for Every cancer patient (WIDE).
Samsom Kris G et al. BMC medical genomics 2020 Nov 13(1) 169
A Novel Diagnosis Method Based on Methylation Analysis of SHOX2 and Serum Biomarker for Early Stage Lung Cancer.
Huang Wenhai et al. Cancer control : journal of the Moffitt Cancer Center 27(1) 1073274820969703
Circulating tumor DNA in advanced solid tumors: Clinical relevance and future directions.
Cheng Michael L et al. CA: a cancer journal for clinicians 2020 Nov
Tumor Genomic Profiling Practices and Perceptions: A Survey of Physicians Participating in the NCI-MATCH Trial.
Chen Alice et al. JCO precision oncology 2020 4
Clinical and Genomic Characteristics of Adult Diffuse Midline Glioma.
Park Changhee et al. Cancer research and treatment : official journal of Korean Cancer Association 2020 Nov
Factors influencing cancer genetic somatic mutation test ordering by cancer physician.
Demeshko Anastassia et al. Journal of translational medicine 2020 Nov 18(1) 431
Utility of a mainstreamed genetic testing pathway in breast and ovarian cancer patients during the COVID-19 pandemic.
Benusiglio Patrick R et al. European journal of medical genetics 2020 Nov 104098
Health Care Disparities and Demand for Expanding Hereditary Breast Cancer Screening Guidelines in African Americans.
Ciuro Jordan et al. Clinical breast cancer 2020 Sep
Results and Clinical Interpretation of Germline RET Analysis in a Series of Patients with Medullary Thyroid Carcinoma: The Challenge of the Variants of Uncertain Significance.
Innella Giovanni et al. Cancers 2020 Nov 12(11)
Family communication of genetic test results among women with inherited breast cancer genes.
Cragun Deborah et al. Journal of genetic counseling 2020 Nov
Characteristics of adrenocortical carcinoma associated with Lynch Syndrome.
Domènech Marta et al. The Journal of clinical endocrinology and metabolism 2020 Nov
Using chatbots to screen for heritable cancer syndromes in patients undergoing routine colonoscopy.
Heald Brandie et al. Journal of medical genetics 2020 Nov
Prevalence of pathogenic variants in actionable genes in advanced ovarian cancer: a next-generation sequencing analysis of a nationwide registry study.
Kang Sokbom et al. European journal of cancer (Oxford, England : 1990) 2020 Nov 141185-192
Genetics of pain: From rare Mendelian disorders to genetic predisposition to pain.
Naureen Zakira et al. Acta bio-medica : Atenei Parmensis 2020 Nov 91(13-S) e2020010
Genetic testing in dementia - utility and clinical strategies.
Koriath Carolin A M et al. Nature reviews. Neurology 2020 Nov
Genomics in the era of COVID-19: ethical implications for clinical practice and public health.
Geller Gail et al. Genome medicine 2020 12(1) 95
Ethical Considerations on Pediatric Genetic Testing Results in Electronic Health Records.
Kanungo Shibani et al. Applied clinical informatics 2020 Oct 11(5) 755-763
At the intersection of precision medicine and population health: an implementation-effectiveness study of family health history based systematic risk assessment in primary care.
Orlando Lori A et al. BMC health services research 2020 Nov 20(1) 1015
A Delphi study to prioritize genetic counseling outcomes: What matters most.
Redlinger-Grosse Krista et al. Journal of genetic counseling 2020 Nov
An evidence map of randomised controlled trials evaluating genetic therapies.
Apaydin Eric A et al. BMJ evidence-based medicine 2020 Nov
Heart, Lung, Blood and Sleep Diseases
Sex differences in cardiovascular morbidity associated with familial hypercholesterolaemia: A retrospective cohort study of the UK Simon Broome register linked to national hospital records.
Iyen Barbara et al. Atherosclerosis 2020 Oct
Cardiovascular genetics: the role of genetic testing in diagnosis and management of patients with hypertrophic cardiomyopathy.
Ahluwalia Monica et al. Heart (British Cardiac Society) 2020 Nov
Patient perspectives regarding gene therapy in haemophilia: Interviews from the PAVING study.
van Overbeeke Eline et al. Haemophilia : the official journal of the World Federation of Hemophilia 2020 Nov
A service evaluation: impact of nurse-led regional familial hypercholesterolaemia service on a hospital adult lipid clinic.
Wilkinson Benjamin et al. British journal of nursing (Mark Allen Publishing) 2020 Nov 29(20) 1206-1208
What Do Students in Pharmacy and Medicine Think About Pharmacogenomics and Personalized Medicine Education? Awareness, Attitudes, and Perceptions in Malaysian Health Sciences.
Siamoglou Stavroula et al. Omics : a journal of integrative biology 2020 Nov
The need of the clinical implementation of pharmacogenetics in European health services for routine drug prescription. What's next? An urgent clinical unmet need for patients.
Taron Miquel et al. Drug metabolism and personalized therapy 2020 Nov
Clinical and genetic characteristics and prenatal diagnosis of patients presented GDD/ID with rare monogenic causes.
Lin Liling et al. Orphanet journal of rare diseases 2020 Nov 15(1) 317