Published on 10/22/2020
Human Genomics across the Lifespan
Birth Defects and Child Health
Deep Learning-Based Classification of Inherited Retinal Diseases Using Fundus Autofluorescence.
Miere Alexandra et al. Journal of clinical medicine 2020 Oct 9(10)
Evaluation of Chromosome Microarray Analysis in a Large Cohort of Females with Autism Spectrum Disorders: A Single Center Italian Study.
Calderoni Sara et al. Journal of personalized medicine 2020 Oct 10(4)
Genetic Disorders with Central Nervous System White Matter Abnormalities: An Update.
Shukla Anju et al. Clinical genetics 2020 Oct
Cost effectiveness of nusinersen for patients with infantile-onset spinal muscular atrophy in US.
Thokala Praveen et al. Cost effectiveness and resource allocation : C/E 2020 1841
The role of molecular genetics in the pre-surgical management of thyroid nodules.
Karapanou Olga et al. Minerva endocrinologica 2020 Oct
Associations of Meningioma Molecular Subgroup and Tumor Recurrence.
Youngblood Mark W et al. Neuro-oncology 2020 Oct
Clinical utility of genomic signatures in young breast cancer patients: a systematic review.
Villarreal-Garza Cynthia et al. NPJ breast cancer 2020 646
Site-Specific and Targeted Therapy Based on Molecular Profiling by Next-Generation Sequencing for Cancer of Unknown Primary Site: A Nonrandomized Phase 2 Clinical Trial.
Hayashi Hidetoshi et al. JAMA oncology 2020 Oct
Molecular Landscape and Actionable Alterations in a Genomically Guided Cancer Clinical Trial: National Cancer Institute Molecular Analysis for Therapy Choice (NCI-MATCH).
Flaherty Keith T et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2020 Oct JCO1903010
Interval Cancer Rate and Diagnostic Performance of Fecal Immunochemical Test According to Family History of Colorectal Cancer.
Jung Yoon Suk et al. Journal of clinical medicine 2020 Oct 9(10)
Feedback of extended panel sequencing in 1,530 patients referred for suspicion of hereditary predisposition to adult cancers.
Cavaillé Mathias et al. Clinical genetics 2020 Oct
Isoflavone intake on the risk of overall breast cancer and molecular subtypes in women at high risk for hereditary breast cancer.
Sim Eun Ji et al. Breast cancer research and treatment 2020 Oct
Genetic Counseling and Testing for Hereditary Cancer Predisposition Syndromes
MCGA Position Paper for Healthcare Providers, September 2020
Genetic counseling in prostate cancer: How to implement it in daily clinical practice?
Borque-Fernando A et al. Actas urologicas espanolas 2020 Oct
No detrimental effect of a positive family history on postoperative upgrading and upstaging in men with low risk and favourable intermediate-risk prostate cancer: implications for active surveillance.
Herkommer Kathleen et al. World journal of urology 2020 Oct
Using Direct-to-Consumer Genetic Testing Results to Accelerate Alzheimer Disease Clinical Trial Recruitment.
Ryan Mary M et al. Alzheimer disease and associated disorders 2020 Oct
A systematic literature review of Native American and Pacific Islanders' perspectives on health data privacy in the United States.
Taitingfong Riley et al. Journal of the American Medical Informatics Association : JAMIA 2020 Oct
Gap between pediatric and adult approvals of molecular targeted drugs.
Nishiwaki Satoshi et al. Scientific reports 2020 Oct 10(1) 17145
Ethical challenges of precision cancer medicine.
Winkler Eva Caroline et al. Seminars in cancer biology 2020 Oct
The Meaning of Informed Consent: Genome Editing Clinical Trials for Sickle Cell Disease.
Desine Stacy et al. AJOB empirical bioethics 2020 Oct 1-13
Regulatory landscape of providing information on newborn screening to parents across Europe.
Franková Vera et al. European journal of human genetics : EJHG 2020 Oct
The mediating effects of public genomic knowledge in precision medicine implementation: A structural equation model approach.
Mogaka John Jules O et al. PloS one 2020 15(10) e0240585
Could Polygenic Risk Scores Be Useful in Psychiatry?: A Review.
Murray Graham K et al. JAMA psychiatry 2020 Oct
Primary Care Physician Experiences with Integrated Population-Scale Genetic Testing: A Mixed-Methods Assessment.
Lemke Amy A et al. Journal of personalized medicine 2020 Oct 10(4)
Heart, Lung, Blood and Sleep Diseases
Clinical Features and Outcomes of Pregnancy-Related Acute Aortic Dissection.
Braverman Alan C et al. JAMA cardiology 2020 Oct
Hematopoietic Stem Cell Transplantation in Patients with Hemoglobinopathies.
Yesilipek M Akif et al. Hemoglobin 2020 Oct 1-8
Effects of the ABCB1 C3435T single nucleotide polymorphism on major adverse cardiovascular events in acute coronary syndrome or coronary artery disease patients undergoing percutaneous coronary intervention and treated with clopidogrel: A systematic review and meta-analysis.
Biswas Mohitosh et al. Expert opinion on drug safety 2020 Oct
Clinical implication of next-generation sequencing for sudden arrhythmia death syndrome.
Lai Ling-Ping et al. Annals of palliative medicine 2020 Sep
Clinical Implications of the Genetic Architecture of Dilated Cardiomyopathy.
Wilsbacher Lisa D et al. Current cardiology reports 2020 Oct 22(12) 170
Improving how positive newborn screening results are communicated to parents of children with sickle cell disease.
McCarthy Lesley et al. Nursing children and young people 2020 Oct
Communicating cystic fibrosis newborn screening results to parents.
Seddon L et al. European journal of pediatrics 2020 Oct
Newborn Screening and Long-term Outcomes.
Powell Cynthia M et al. Pediatrics 2020 Oct
Evaluation of guidelines for universal newborn hearing screening programs.
Spivak Lynn et al. Developmental medicine and child neurology 2020 Oct
Long-term Outcomes of Individuals With Metabolic Diseases Identified Through Newborn Screening.
Mütze Ulrike et al. Pediatrics 2020 Oct
Newborn Screening for Spinal Muscular Atrophy: Ontario Testing & Follow-up Recommendations.
McMillan Hugh J et al. The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques 2020 Oct 1-24
Pharmacogenomics: Current Actionable Variants.
González-Covarrubias Vanessa et al. Revista de investigacion clinica; organo del Hospital de Enfermedades de la Nutricion 2020 May 73(3)
Pharmacogenetics in Psychiatry: An Update on Clinical Usability.
van Schaik Ron H N et al. Frontiers in pharmacology 2020 11575540
Population structure and pharmacogenomic risk stratification in the United States.
Nagar Shashwat Deepali et al. BMC biology 2020 Oct 18(1) 140
Retrospective Review of Pharmacogenetic Testing at an Academic Children's Hospital.
Roberts Timothy A et al. Clinical and translational science 2020 Oct
A Tutorial for Pharmacogenomics Implementation through End-to-end Clinical Decision Support Based on Ten Years of Experience from PREDICT.
Liu Michelle et al. Clinical pharmacology and therapeutics 2020 Oct
A model-based cost-effectiveness analysis of pharmacogenomic panel testing in cardiovascular disease management: preemptive, reactive, or none?
Zhu Ye et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Oct
Reducing misdiagnosis caused by maternal cell contamination in genetic testing for early pregnancy loss.
Volozonoka Ludmila et al. Systems biology in reproductive medicine 2020 Oct 1-11
Utilization of preimplantation genetic testing for monogenic disorders.
Lee Iris et al. Fertility and sterility 2020 Oct 114(4) 854-860