Publication Date: Jun 25, 2020
Human Genomics across the Lifespan
Birth Defects and Child Health
- Comprehensive genetic analysis of 961 unrelated Duchenne Muscular Dystrophy patients: Focus on diagnosis, prevention and therapeutic possibilities.
Kumar Shalini H et al. PloS one 2020 15(6) e0232654 - Next generation sequencing using phenotype-based panels for genetic testing in inherited retinal diseases.
Shah Mital et al. Ophthalmic genetics 2020 Jun 1-7 - The Impact of Rapid Exome Sequencing on Medical Management of Critically Ill Children.
Freed Amanda S et al. The Journal of pediatrics 2020 Jun - Genomic Testing for Diagnosis of Genetic Disorders in Children: Chromosomal Microarray and Next-Generation Sequencing.
Narayanan Dhanya Lakshmi et al. Indian pediatrics 2020 Jun 57(6) 549-554 - Delivering genome sequencing for rapid genetic diagnosis in critically ill children: parent and professional views, experiences and challenges.
Hill Melissa et al. European journal of human genetics : EJHG 2020 Jun - Evaluation of CNV detection tools for NGS panel data in genetic diagnostics.
Moreno-Cabrera José Marcos et al. European journal of human genetics : EJHG 2020 Jun
Cancer
- Comparison of suspected Lynch syndrome patients carrying BRCA and BRCA-like variants with Lynch syndrome probands: Phenotypic characteristics and pedigree analyses.
Xu Yun et al. Molecular genetics & genomic medicine 2020 Jun e1359 - A step towards personalizing next line therapy for resected pancreatic and related cancer patients: A single institution's experience.
Lowder Cinthya Y et al. Surgical oncology 2020 Jun 33118-125 - Feasibility of Gynaecologist Led Lynch Syndrome Testing in Women with Endometrial Cancer.
Ryan Neil Aj et al. Journal of clinical medicine 2020 Jun 9(6) - Impact of tumour heterogeneity and tissue sampling for genetic mutation testing: a systematic review and post-hoc analysis.
Swift Stephanie L et al. Journal of clinical epidemiology 2020 Jun - Frequency and spectrum of disease-causing variants in 1892 patients with suspected genetic HLH disorders.
Gadoury-Levesque Vanessa et al. Blood advances 2020 Jun 4(12) 2578-2594 - Genetic counselors' perspectives on population-based screening for BRCA-related hereditary breast and ovarian cancer and Lynch syndrome.
De Simone Lenika M et al. Journal of genetic counseling 2020 Jun - Impact of genetic variants in clinical outcome of a cohort of patients with oropharyngeal squamous cell carcinoma.
de Carvalho Ana Carolina et al. Scientific reports 2020 Jun 10(1) 9970 - Clinical characteristics and exploratory genomic analyses of germline BRCA1 or BRCA2 mutations in breast cancer.
Park Sehhoon et al. Molecular cancer research : MCR 2020 Jun - Hereditary Gastric and Breast Cancer Syndromes Related to CDH1 Germline Mutation: A Multidisciplinary Clinical Review.
Corso Giovanni et al. Cancers 2020 Jun 12(6) - Aspirin for Lynch syndrome: a legacy of prevention.
Yurgelun Matthew B et al. Lancet (London, England) 2020 395(10240) 1817-1818
Chronic Disease
- Precision Medicine in Diabetes: A Consensus Report From the American Diabetes Association (ADA) and the European Association for the Study of Diabetes (EASD).
Chung Wendy K et al. Diabetes care 2020 Jul 43(7) 1617-1635 - Family Communication Patterns and Challenges of Huntington's Disease Risk, the Decision to Pursue Presymptomatic Testing, and Test Results.
Stuttgen Kelsey et al. Journal of Huntington's disease 2020 Jun
Ethical, Legal and Social Issues (ELSI)
- Medical-ethical recommendations: preimplantation genetic testing PGT.
Swiss Academy Of Medical Sciences et al. Swiss medical weekly 2020 Jun 150w20298 - Genetic testing and results disclosure in diverse populations: what does it take?
Horowitz Carol R et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Jun - Ethical conflicts in translational genetic research: lessons learned from the eMERGE-III experience.
Halverson Colin M E et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Jun - Re-examining the Ethics of Genetic Counselling in the Genomic Era.
Schupmann Will et al. Journal of bioethical inquiry 2020 Jun
General Practice
- Training the next generation of genomic medicine providers: trends in medical education and national assessment.
Dasgupta Shoumita et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Jun - Frequency of genomic secondary findings among 21,915 eMERGE network participants.
et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Jun
Heart, Lung, Blood and Sleep Diseases
- Perceptions and Practice of Early Diagnosis of Sickle Cell Disease by Parents and Physicians in a Southwestern State of Nigeria.
Olatunya Oladele Simeon et al. TheScientificWorldJournal 2020 20204801087 - Hereditary Alpha-Tryptasemia: UK Prevalence and variability in disease expression.
Robey Rebecca C et al. The journal of allergy and clinical immunology. In practice 2020 Jun - Genetic screening for monogenic hypertension in hypertensive individuals in a clinical setting.
Bao Minghui et al. Journal of medical genetics 2020 Jun - Diagnostic findings and follow-up outcomes in relatives to young non-autopsied sudden death victims.
Kjerrumgaard Amalie et al. International journal of cardiology 2020 Jun - Impact of Next-Generation Sequencing on the Diagnosis and Treatment of Congenital Anemias.
Steinberg-Shemer Orna et al. Molecular diagnosis & therapy 2020 Jun
Newborn Screening
- Newborn screening alone insufficient to improve pulmonary outcomes for cystic fibrosis.
Barreda Christina B et al. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2020 Jun
Pharmacogenomics
- Prescription Patterns of Outpatients and the Potential of Multiplexed Pharmacogenomic Testing.
Chan Sze Ling et al. British journal of clinical pharmacology 2020 Jun - Effect of Vitamin K Epoxide Reductase Complex 1 Polymorphism on Warfarin Dose Requirement among Patients in Tertiary Care Hospital.
Veeregowda Sahana Hadihalli et al. International journal of applied & basic medical research 10(2) 97-101
Reproductive Health
- Preimplantation Genetic Testing for Polygenic Disease Relative Risk Reduction: Evaluation of Genomic Index Performance in 11,883 Adult Sibling Pairs.
Treff Nathan R et al. Genes 2020 Jun 11(6) - Management of Autosomal Dominant Polycystic Kidney Disease (ADPKD) During Pregnancy: Risks and Challenges.
McBride Lucy et al. International journal of women's health 2020 12409-422 - Update on noninvasive prenatal testing: A review based on current worldwide research.
Samura Osamu et al. The journal of obstetrics and gynaecology research 2020 Jun - Clinical service delivery of non-invasive prenatal diagnosis (NIPD) by relative haplotype dosage (RHDO) for single gene disorders.
Young Elizabeth et al. The Journal of molecular diagnostics : JMD 2020 Jun - Fetal fraction of cell-free DNA in pregnancies after fresh or frozen embryo transfer following assisted reproductive technologies.
Talbot Anna L et al. Human reproduction (Oxford, England) 2020 Jun - Preimplantation genetic testing for aneuploidy: the conundrum with aneuploid embryo transfers.
Fragouli Elpida et al. Fertility and sterility 2020 Jun
Disclaimer: Articles listed in Health Impact Weekly Scan are selected by the CDC Office of Public Health Genomics to provide current awareness of the scientific literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the Clips, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
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