Published on 02/04/2021
Human Genomics across the Lifespan
Birth Defects and Child Health
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Participant mothers' attitudes toward genetic analysis in a birth cohort study.
Yamamoto Midori et al. Journal of human genetics 2021 Jan -
Genetic diagnoses in pediatric patients with epilepsy and comorbid intellectual disability.
Yang Mei et al. Epilepsy research 2021 Jan 170106552 -
Clinical Spectrum and Genetic Diagnosis of 54 Consecutive Patients Aged 0-25 with Bilateral Cataracts.
Bell Suzannah et al. Genes 2021 Jan 12(2) -
Polygenic Scores for ADHD: A Meta-Analysis.
Li James J et al. Research on child and adolescent psychopathology 2021 Jan -
Systematic literature review of the economic burden of spinal muscular atrophy and economic evaluations of treatments.
Dangouloff Tamara et al. Orphanet journal of rare diseases 2021 Jan 16(1) 47 -
Learning from scaling up ultra-rapid genomic testing for critically ill children to a national level
S Best et al, NPJ Genomic Medicine, January 2021 -
Focused Revision: ACMG practice resource: Genetic evaluation of short stature.
Mintz Cassie S et al. Genetics in medicine : official journal of the American College of Medical Genetics 2021 Jan
Cancer Genomics
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Ultrarapid EGFR Mutation Screening Followed by Comprehensive Next-Generation Sequencing: A Feasible, Informative Approach for Lung Carcinoma Cytology Specimens With a High Success Rate.
Arcila Maria E et al. JTO clinical and research reports 2020 Sep 1(3)
Hereditary Cancer
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BARD1 Pathogenic Variants are Associated with Triple-Negative Breast Cancer in a Spanish Hereditary Breast and Ovarian Cancer Cohort.
Rofes Paula et al. Genes 2021 Jan 12(2) -
Genetic predisposition to prostate cancer: an update.
Ni Raghallaigh Holly et al. Familial cancer 2021 Jan -
Economic impact of multigene panel testing for hereditary breast and ovarian cancer.
Byfield Stacey Dacosta et al. Journal of comparative effectiveness research 2021 Jan -
Current practices on genetic testing in ovarian cancer.
Fostira Florentia et al. Annals of translational medicine 2020 Dec 8(24) 1703 -
Germline pathogenic variants in the Ataxia Telangiectasia Mutated (ATM) gene are associated with high and moderate risks for multiple cancers.
Hall Michael J et al. Cancer prevention research (Philadelphia, Pa.) 2021 Jan -
Experiences, expectations and preferences regarding MRI and mammography as breast cancer screening tools in women at familial risk.
Geuzinge H Amarens et al. Breast (Edinburgh, Scotland) 2021 Jan 561-6 -
Targeting lung cancer screening to individuals at greatest risk: the role of genetic factors.
Lebrett Mikey B et al. Journal of medical genetics 2021 Jan -
Prophylactic Surgery in the BRCA+ Patient: Do Women Develop Breast Cancer While Waiting?
Macadam Sheina A et al. Current oncology (Toronto, Ont.) 2021 Jan 28(1) 702-715 -
Challenges of Genomic Testing for Hereditary Breast and Ovarian Cancers.
McAlarnen Lindsey et al. The application of clinical genetics 2021 141-9
Chronic Disease
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Genetic Insights into Alzheimer's Disease.
Latimer Caitlin S et al. Annual review of pathology 2021 Jan 16351-376
Ethics/Policy/Law
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Predictive Genetic Testing by the U.S. Military: Legal and Ethical Issues.
Mehlman Maxwell J et al. Military medicine 2021 Jan -
Polygenic risk scores in the clinic: new perspectives needed on familiar ethical issues.
Lewis Anna C F et al. Genome medicine 2021 Jan 13(1) 14 -
Health data research on sudden cardiac arrest: perspectives of survivors and their next-of-kin.
Bak Marieke A R et al. BMC medical ethics 2021 Jan 22(1) 7 -
Sharing genetic variants with the NGS pipeline is essential for effective genomic data sharing and reproducibility in health information exchange.
Lee Jeong Hoon et al. Scientific reports 2021 Jan 11(1) 2268 -
Community Perspectives on Communicating About Precision Medicine in an Alaska Native Tribal Health Care System.
Woodbury R Brian et al. Frontiers in communication 2020 Sep 5 -
Research projects in human genetics in Switzerland: analysis of research protocols submitted to cantonal ethics committees in 2018.
Driessen Susanne et al. Swiss medical weekly 2021 Jan 151w20403
Practice
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Increasing access to individualized medicine: a matched-cohort study examining Latino participant experiences of genomic screening.
Pacyna Joel E et al. Genetics in medicine : official journal of the American College of Medical Genetics 2021 Jan -
Current status and future directions of U.S. genomic nursing health care policy.
Kurnat-Thoma Emma et al. Nursing outlook 2021 Jan
Heart, Lung, Blood and Sleep Diseases
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LDL-cholesterol lowering and clinical outcomes in hypercholesterolemic subjects with and without a familial hypercholesterolemia phenotype: Analysis from the secondary prevention 4S trial.
Vallejo-Vaz Antonio J et al. Atherosclerosis 2021 Jan 3201-9 -
A systematic review of quality of life in sickle cell disease and thalassemia after stem cell transplant or gene therapy.
Badawy Sherif M et al. Blood advances 2021 Jan 5(2) 570-583 -
Highly elevated polygenic risk scores are better predictors of myocardial infarction risk early in life than later.
Isgut Monica et al. Genome medicine 2021 Jan 13(1) 13 -
Addressing Gaps in Racial/Ethnic Representation in Familial Hypercholesterolemia Registries: Implications and Recommendations for Equitable Access to Research and Care.
Mszar Reed et al. Circulation. Cardiovascular quality and outcomes 2021 Jan CIRCOUTCOMES120007306 -
The genetic counselor's role in management of patients with dyslipidemia.
Brown Emily E et al. Current opinion in lipidology 2021 Jan -
Suppression-Replacement KCNQ1 Gene Therapy for Type 1 Long QT Syndrome.
Dotzler Steven M et al. Circulation 2021 Jan
Newborn Screening
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Digital peer-to-peer information seeking and sharing: Opportunities for education and collaboration in newborn screening.
Miller Brianne C et al. American journal of medical genetics. Part C, Seminars in medical genetics 2021 Jan -
Impact of newborn screening on the reported incidence and clinical outcomes associated with medium- and long-chain fatty acid oxidation disorders.
Marsden Deborah et al. Genetics in medicine : official journal of the American College of Medical Genetics 2021 Jan -
Newborn screening and disease variants predict neurological outcome in isovaleric aciduria.
Mütze Ulrike et al. Journal of inherited metabolic disease 2021 Jan
Pharmacogenomics
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Impact and applicability of pharmacogenomics in rheumatology: an integrated analysis.
Reid Pankti et al. Clinical and experimental rheumatology 2021 Jan
Reproductive Health
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Fertility preservation for genetic diseases leading to premature ovarian insufficiency (POI).
La Marca Antonio et al. Journal of assisted reproduction and genetics 2021 Jan -
Expanded carrier screening for recessively inherited disorders: economic burden and factors in decision-making when one individual in a couple is identified as a carrier.
Shapiro Alice J et al. Journal of assisted reproduction and genetics 2021 Jan -
Fetal birthweight prediction with measured data by a temporal machine learning method.
Tao Jing et al. BMC medical informatics and decision making 2021 Jan 21(1) 26 -
Cell-free DNA Testing in Routine Practice: Characterisation of a Cohort with Positive Results for Trisomies, Sex Chromosome Anomalies and Microdeletions.
Tekesin Ismail et al. Geburtshilfe und Frauenheilkunde 2021 Jan 81(1) 81-89