Published on 11/12/2020
Human Genomics across the Lifespan
Birth Defects and Child Health
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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
Cancer Genomics
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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
Hereditary Cancer
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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
Ethics/Policy/Law
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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
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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
Newborn Screening
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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)
Pharmacogenomics
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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
Reproductive Health
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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