Published on 11/12/2020
Human Genomics across the Lifespan
Birth Defects and Child Health
Next-generation sequencing for the diagnosis of patients with congenital multiple anomalies and / or intellectual disabilities.
Suga Kenichi et al. The journal of medical investigation : JMI 2020 67(3.4) 246-249
Small for gestational age: the familial perspective.
Barzilai Roni et al. The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians 2020 Nov 1-5
Evaluating variants classified as pathogenic in ClinVar in the DDD Study.
Wright Caroline F et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Nov
Focused Update on AAV-Based Gene Therapy Clinical Trials for Inherited Retinal Degeneration.
Fuller-Carter Paula I et al. BioDrugs : clinical immunotherapeutics, biopharmaceuticals and gene therapy 2020 Nov
Establishing a Framework for the Clinical Translation of Germline Findings in Precision Oncology.
Dixon Katherine et al. JNCI cancer spectrum 2020 Oct 4(5) pkaa045
Metastatic and recurrent adrenocortical cancer is not defined by its genomic landscape.
Fojo Tito et al. BMC medical genomics 2020 Nov 13(1) 165
TMPRSS2-ERG fusion impact anterior tumor location in men with prostate cancer.
Yamoah Kosj et al. The Prostate 2020 Nov
Pathology and Laboratory Medicine in Cancer Care: A Global Analysis of National Cancer Control Plans.
Parra-Herran Carlos et al. International journal of cancer 2020 Nov
The Impact of a Comprehensive Risk Prediction Model for Colorectal Cancer on a Population Screening Program.
Saya Sibel et al. JNCI cancer spectrum 2020 Oct 4(5) pkaa062
Risk of invasive breast cancer in relatives of patients with breast carcinoma in situ: a prospective cohort study.
Mukama Trasias et al. BMC medicine 2020 Nov 18(1) 295
Screening Strategy Modification Based on Personalized Breast Cancer Risk Stratification and its Implementation in the National Guidelines - Pilot Study.
Krajc Mateja et al. Zdravstveno varstvo 2020 Dec 59(4) 211-218
Germline genetic testing in breast cancer: Rationale for the testing of all women diagnosed by the age of 60 years and for risk-based testing of those older than 60 years.
Desai Neelam V et al. Cancer 2020 Nov
The accuracy of breast cancer risk self-assessment does not correlate with knowledge about breast cancer and knowledge and attitudes towards primary chemoprevention.
Bojanic Kristina et al. Preventive medicine reports 2020 Dec 20101229
The impact of a cascade testing video on recipients' knowledge, cognitive message processing, and affective reactions: A formative evaluation.
Aeilts Amber M et al. Journal of genetic counseling 2020 Nov
Thought Leader Comparisons of Risks in Precision Medicine Research.
Beskow Laura M et al. Ethics & human research 2020 Nov 42(6) 35-40
Researcher Knowledge, Attitudes, and Communication Practices for Genomic Data Sharing.
Nick Heather P et al. Journal of empirical research on human research ethics : JERHRE 2020 Nov 1556264620969301
Heart, Lung, Blood and Sleep Diseases
Familial Hypercholesterolemia in Premature Acute Coronary Syndrome. Insights from CholeSTEMI Registry.
Lorca Rebeca et al. Journal of clinical medicine 2020 Oct 9(11)
Genetics of Familial Hypercholesterolemia: New Insights.
Vrablik Michal et al. Frontiers in genetics 2020 11574474
Prevalence of Familial Hypercholesterolaemia in Acute Coronary Syndrome Patients in a Large Regional Coronary Care Unit.
Samuel Rohit et al. Heart, lung & circulation 2020 Oct
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 3142
KCNQ1 and Long QT Syndrome in 1/45 Amish: The Road from Identification to Implementation of Culturally Appropriate Precision Medicine.
Streeten Elizabeth A et al. Circulation. Genomic and precision medicine 2020 Nov
Identifying familial hypercholesterolaemia in primary care: Validation and optimisation of a clinical tool (FAMCAT).
Akyea Ralph Kwame et al. BJGP open 2020 Nov
Mutational profiling in suspected triple-negative essential thrombocythaemia using targeted next-generation sequencing in a real-world cohort.
Michail Olga et al. Journal of clinical pathology 2020 Nov
Report of Five Years of Experience in Neonatal Screening for Mucopolysaccharidosis Type I and Review of the Literature.
Gragnaniello Vincenza et al. International journal of neonatal screening 2020 Nov 6(4)
Development of Strategies to Decrease False Positive Results in Newborn Screening.
Malvagia Sabrina et al. International journal of neonatal screening 2020 Nov 6(4)
A Review of the Important Role of CYP2D6 in Pharmacogenomics.
Taylor Christopher et al. Genes 2020 Oct 11(11)
Variant Interpretation in Current Pharmacogenetic Testing.
Luvsantseren Sally et al. Journal of personalized medicine 2020 Oct 10(4)
Review and Consensus on Pharmacogenomic Testing in Psychiatry.
Bousman Chad A et al. Pharmacopsychiatry 2020 Nov
Prevalence and types of inconsistencies in clinical pharmacogenetic recommendations among major U.S. sources.
Shugg Tyler et al. NPJ genomic medicine 2020 548
Phenotype prediction and characterization of 25 pharmacogenes in Thais from whole genome sequencing for clinical implementation.
Mauleekoonphairoj John et al. Scientific reports 2020 Nov 10(1) 18969
Assessing clinical education tools for expanded carrier screening.
Dugger Chloe et al. Journal of genetic counseling 2020 Nov
Factors influencing medical practitioner participation in population carrier screening for cystic fibrosis.
Valente Giulia M et al. The Australian & New Zealand journal of obstetrics & gynaecology 2020 Nov
Whole exome sequencing of fetal structural anomalies detected by ultrasonography.
Aoi Hiromi et al. Journal of human genetics 2020 Nov