Published on 12/10/2020
Human Genomics across the Lifespan
Birth Defects and Child Health
The Burden of Spinal Muscular Atrophy on Informal Caregivers.
Aranda-Reneo Isaac et al. International journal of environmental research and public health 2020 Dec 17(23)
Diagnostic power and clinical impact of exome sequencing in a cohort of 500 patients with rare diseases.
Quaio Caio Robledo D'Angioli Costa et al. American journal of medical genetics. Part C, Seminars in medical genetics 2020 Nov
Role of Ash1l in Tourette syndrome and other neurodevelopmental disorders.
Zhang Cheng et al. Developmental neurobiology 2020 Nov
The Relationships Between Prenatal Smoking Exposure and Telomere Lengths in Fetuses, Infants, and Children: A Systematic Literature Review.
Wei Holly et al. Journal of addictions nursing 31(4) 243-252
First results of the EORTC-SPECTA/Arcagen study exploring the genomics of rare cancers in collaboration with the European reference network EURACAN.
Morfouace Marie et al. ESMO open 2020 Dec 5(6)
Establishment of a Molecular Tumor Board (MTB) and Uptake of Recommendations in a Community Setting.
VanderWalde Ari et al. Journal of personalized medicine 2020 Nov 10(4)
Construction and Validation of a 7-Immune Gene Model for Prognostic Assessment of Esophageal Carcinoma.
Chen Haitao et al. Medical science monitor : international medical journal of experimental and clinical research 2020 Dec 26e927392
Survival prediction in patients with colon adenocarcinoma via multi-omics data integration using a deep learning algorithm.
Lv Jiudi et al. Bioscience reports 2020 Dec
A Highly Sensitive Next-Generation Sequencing-Based Genotyping Platform for EGFR Mutations in Plasma from Non-Small Cell Lung Cancer Patients.
Shin Jung-Young et al. Cancers 2020 Nov 12(12)
Development and validation of a 25-Gene Panel urine test for prostate cancer diagnosis and potential treatment follow-up.
Johnson Heather et al. BMC medicine 2020 Dec 18(1) 376
Clinical practice guidance for next-generation sequencing in cancer diagnosis and treatment (edition 2.1).
Naito Yoichi et al. International journal of clinical oncology 2020 Nov
Performance of Three Inherited Risk Measures for Predicting Prostate Cancer Incidence and Mortality: A Population-based Prospective Analysis.
Shi Zhuqing et al. European urology 2020 Nov
Breast cancer associated pathogenic variants among women 61 years and older with triple negative breast cancer.
Chávarri-Guerra Yanin et al. Journal of geriatric oncology 2020 Dec
The "diagnose and leave in" strategy" for diminutive rectosigmoid polyps in Lynch syndrome: a post-hoc analysis from a randomized controlled trial.
Rivero-Sánchez Liseth et al. Endoscopy 2020 Dec
Validation of a prostate cancer polygenic risk score.
Black Mary H et al. The Prostate 2020 Nov 80(15) 1314-1321
DNA damage repair gene mutation testing and genetic counseling in men with/without prostate cancer: a systematic review.
Armstrong Nigel et al. Future oncology (London, England) 2020 Dec
Novel Risk Loci Associated With Genetic Risk for Bipolar Disorder Among Han Chinese Individuals: A Genome-Wide Association Study and Meta-analysis.
Li Hui-Juan et al. JAMA psychiatry 2020 Dec
Assessment of the All of Us research program's informed consent process.
Doerr Megan et al. AJOB empirical bioethics 2020 Dec 1-20
Integrating Patient Priorities with Science by Community Engagement in the Kidney Precision Medicine Project.
Tuttle Katherine R et al. Clinical journal of the American Society of Nephrology : CJASN 2020 Nov
"It's something I've committed to longer term": The impact of an immersion program for physicians on adoption of genomic medicine.
Martyn Melissa et al. Patient education and counseling 2020 Oct
Acceptability and potential impact on uptake of using different risk stratification approaches to determine eligibility for screening: A population-based survey.
Usher-Smith Juliet A et al. Health expectations : an international journal of public participation in health care and health policy 2020 Dec
Heart, Lung, Blood and Sleep Diseases
Updated guidance on the management of children with cystic fibrosis transmembrane conductance regulator-related metabolic syndrome/cystic fibrosis screen positive, inconclusive diagnosis (CRMS/CFSPID).
Barben Jürg et al. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2020 Nov
Novel therapies for familial hypercholesterolemia.
Mohamed Farzahna et al. Current opinion in endocrinology, diabetes, and obesity 2020 Dec
Improving interpretation of genetic testing for hereditary hemorrhagic, thrombotic, and platelet disorders.
Lambert Michele P et al. Hematology. American Society of Hematology. Education Program 2020 2020(1) 76-81
Assessing the current knowledge, attitude and behaviour of adolescents and young adults living with haemophilia.
Mohan Richa et al. Haemophilia : the official journal of the World Federation of Hemophilia 2020 Dec
Gene therapy for sickle cell disease.
Olowoyeye Abiola et al. The Cochrane database of systematic reviews 2020 Nov 11CD007652
Clinical Diagnostic Criteria of Familial Hypercholesterolemia - A Comparison of the Japan Atherosclerosis Society and Dutch Lipid Clinic Network Criteria.
Tada Hayato et al. Circulation journal : official journal of the Japanese Circulation Society 2020 Dec
Characterization of syndromic, non-syndromic familial, and sporadic Type B Aortic Dissection.
Shalhub Sherene et al. Journal of vascular surgery 2020 Nov
Using Personal Genomic Data within Primary Care: A Bioinformatics Approach to Pharmacogenomics.
Overkleeft Rick et al. Genes 2020 Nov 11(12)
Drug response in association with pharmacogenomics and pharmacomicrobiomics: towards a better personalized medicine.
Hassan Radia et al. Briefings in bioinformatics 2020 Dec
Barriers, solutions, and effect of using pharmacogenomics data to support opioid prescribing.
Bright David et al. Journal of managed care & specialty pharmacy 2020 Dec 26(12) 1597-1602
Effect of Pharmacogenetic Testing for Statin Myopathy Risk vs Usual Care on Blood Cholesterol: A Randomized Clinical Trial.
Vassy Jason L et al. JAMA network open 2020 Dec 3(12) e2027092
Identification of a unique epigenetic profile in women with diminished ovarian reserve.
Olsen Kristina W et al. Fertility and sterility 2020 Nov