Published on 04/15/2021
Human Genomics across the Lifespan
Birth Defects and Child Health
Evaluation of Exome Sequencing Criteria for Hospital Stewardship and Insurance Authorization at a Pediatric Hospital.
Wittowski Claire L et al. Archives of pathology & laboratory medicine 2021
The benefits and challenges of family genetic testing in rare genetic diseases-lessons from Fabry disease.
Germain Dominique P et al. Molecular genetics & genomic medicine 2021 e1666
Perspective: Application of the American College of Medical Genetics Variant Interpretation Criteria to Common Variable Immunodeficiency Disorders.
Ameratunga Rohan et al. Clinical reviews in allergy & immunology 2021
Consensus recommendations for the classification and long-term follow up of infants who screen positive for Krabbe Disease.
Thompson-Stone Robert et al. Molecular genetics and metabolism 2021
Carrier frequency and incidence estimation of Smith-Lemli-Opitz syndrome in East Asian populations by Genome Aggregation Database (gnomAD) based analysis.
Park Jong Eun et al. Orphanet journal of rare diseases 2021 16(1) 166
Identifying treatment options for BRAFV600 wild-type metastatic melanoma: A SU2C/MRA genomics-enabled clinical trial.
LoRusso Patricia M et al. PloS one 2021 16(4) e0248097
Impact of a Genomic Test on Treatment Decision in a Predominantly African American Population With Favorable-Risk Prostate Cancer: A Randomized Trial.
Murphy Adam B et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2021 JCO2002997
Adherence to NCCN ALK testing guidelines for patients with advanced non-small cell lung cancer in US Community Medical Centers.
Bernicker Eric H et al. The oncologist 2021
Patients' and Oncologists' Knowledge and Expectations Regarding Tumour Multigene Next Generation Sequencing: A Narrative Review.
Shirdarreh Melika et al. The oncologist 2021
Clinical Utility of a Cell-Free DNA Assay in Patients With Colorectal Cancer.
Chan Ren-Hao et al. Frontiers in oncology 2021 11589673
GC-MS-based metabolomics reveals new biomarkers to assist the differentiation of prostate cancer and benign prostatic hyperplasia.
Wang Wenyu et al. Clinica chimica acta; international journal of clinical chemistry 2021
HER2 testing in breast cancers: comparison of assays and interpretation using ASCO/CAP 2013 and 2018 guidelines.
McLemore Lauren E et al. Breast cancer research and treatment 2021
Multigene assessment of genetic risk for women for two or more breast cancers.
Weitzel Jeffrey N et al. Breast cancer research and treatment 2021
Malignancy risk in individuals with familial adenomatous polyposis receiving biologics and immunomodulators.
Faisal Muhammad Salman et al. Familial cancer 2021
Controversies in Hereditary Cancer Management.
AlHilli Mariam M et al. Obstetrics and gynecology 2021
Impact of national guidelines on use of BRCA1/2 germline testing, risk management advice given to women with pathogenic BRCA1/2 variants and uptake of advice.
Meiser Bettina et al. Hereditary cancer in clinical practice 2021 19(1) 24
Views on genomic research result delivery methods and informed consent: a review.
Vears Danya F et al. Personalized medicine 2021
African American Nurses' Perspectives on Genomic Medicine Research.
Hendricks-Sturrup Rachele M et al. AMA journal of ethics 2021 23(3) E240-251
Employees' Views and Ethical, Legal, and Social Implications Assessment of Voluntary Workplace Genomic Testing.
Sanghavi Kunal et al. Frontiers in genetics 2021 12643304
New ethical challenges in the management of rare pediatric diseases with innovative therapies.
Dufosset M et al. Archives de pediatrie : organe officiel de la Societe francaise de pediatrie 2021
Genomics in Patient Care and Workforce Decisions in High-Level Isolation Units: A Survey of Healthcare Workers.
Gerber Jennifer E et al. Health security 2021
Penetrance and outcomes at 1-year following return of actionable variants identified by genome sequencing.
Lee Christopher et al. Genetics in medicine : official journal of the American College of Medical Genetics 2021
Pitfalls and challenges in genetic test interpretation: An exploration of genetic professionals experience with interpretation of results.
Donohue Katherine E et al. Clinical genetics 2021 99(5) 638-649
Telomere length and epigenetic age acceleration in adolescents with anxiety disorders.
Cerveira de Baumont Angelica et al. Scientific reports 2021 11(1) 7716
Benefits and limitations of telegenetics: A literature review.
Gorrie Anita et al. Journal of genetic counseling 2021
Heart, Lung, Blood and Sleep Diseases
Global epidemiology of dyslipidaemias.
Pirillo Angela et al. Nature reviews. Cardiology 2021
Factors Associated With PCSK9 Inhibitor Initiation Among US Veterans.
Derington Catherine G et al. Journal of the American Heart Association 2021 e019254
Familial hypercholesterolaemia: Experience of a tertiary paediatric lipid clinic.
Yeung Jeffrey et al. Journal of paediatrics and child health 2021
Clinical and genetic characteristics and course of congenital long QT syndrome in children: A nine-year single-center experience.
Ergül Yakup et al. Anatolian journal of cardiology 2021 25(4) 250-257
Assessment of hearing screening programmes across 47 countries or regions III: provision of childhood hearing screening after the newborn period.
Bussé Andrea M L et al. International journal of audiology 2021 1-8
Perspectives from the Society for Pediatric Research: pharmacogenetics for pediatricians.
Tang Girdwood Sonya C et al. Pediatric research 2021
Cost-effectiveness analysis of genotyping for HLA-B*15:02 in Indonesian patients with epilepsy using a generic model.
Yuliwulandari Rika et al. The pharmacogenomics journal 2021
Genetic variants associated with cardiometabolic abnormalities during treatment with selective serotonin reuptake inhibitors: a genome-wide association study.
Fjukstad Katrine K et al. The pharmacogenomics journal 2021
Pharmacogenomics in the Era of Next Generation Sequencing - from Byte to Bedside.
Russell Laura E et al. Drug metabolism reviews 2021 1-79
Strategies and settings of clinical pharmacogenetic implementation: a scoping review of pharmacogenetics programs.
Luczak Tiana et al. Pharmacogenomics 2021
Current controversies in prenatal diagnosis: Expanded NIPT that includes conditions otherthan trisomies 13, 18, and 21 should be offered.
Christiaens Lieve et al. Prenatal diagnosis 2021