Publication Date: Aug 1, 2019
Human Genomics across the Lifespan
Birth Defects and Child Health
- Screening for Krabbe disease: the first two years experience.
Pannuzzo Giovanna et al. Acta neurologica Scandinavica 2019 Jul - International Guidelines for the Treatment of Huntington's Disease.
Bachoud-Lévi Anne-Catherine et al. Frontiers in neurology 2019 10710 - Clinical burden of illness in patients with phenylketonuria (PKU) and associated comorbidities - a retrospective study of German health insurance claims data.
Trefz K F et al. Orphanet journal of rare diseases 2019 Jul 14(1) 181 - Outcomes of patient self-referral for the diagnosis of several rare inherited kidney diseases.
Bleyer Anthony J et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Jul - Psychiatric Polygenic Risk Scores as Predictor for Attention Deficit/Hyperactivity Disorder and Autism Spectrum Disorder in a Clinical Child and Adolescent Sample.
Jansen Arija G et al. Behavior genetics 2019 Jul - Update in Duchenne and Becker muscular dystrophy.
Waldrop Megan A et al. Current opinion in neurology 2019 Jul
Cancer
- Next Generation Sequencing Reveals Novel Mutations in Mismatch Repair Genes and Other Cancer Predisposition Genes in Asian Patients with Suspected Lynch Syndrome.
Ow Samuel G W et al. Clinical colorectal cancer 2019 Jun - Basket Trials and the MD Anderson Precision Medicine Clinical Trials Platform.
Said Rabih et al. Cancer journal (Sudbury, Mass.) 25(4) 282-286 - Introduction by the Guest Editor: Oncologic Precision Medicine and the Use of Basket and Umbrella Clinical Trials.
Doroshow James H et al. Cancer journal (Sudbury, Mass.) 25(4) 243-244 - Analysis of the pathogenic variants of BRCA1 and BRCA2 using next-generation sequencing in women with familial breast cancer: a case-control study.
Zayas-Villanueva Omar Alejandro et al. BMC cancer 2019 Jul 19(1) 722 - Consensus Guidelines on Genetic` Testing for Hereditary Breast Cancer from the American Society of Breast Surgeons.
Manahan Eric R et al. Annals of surgical oncology 2019 Jul - Family still matters: Counseling patients with complex family histories of colon and endometrial cancers.
Gemmell Amber P et al. Molecular genetics & genomic medicine 2019 Jul e886 - Prognostic Value of miRNAs in Head and Neck Cancers: A Comprehensive Systematic and Meta-Analysis.
Kumarasamy Chellan et al. Cells 2019 Jul 8(8) - Clinical Management of Patients at Risk for Hereditary Breast Cancer with Variants of Uncertain Significance in the Era of Multigene Panel Testing.
Chang Jenny et al. Annals of surgical oncology 2019 Jul - BRCA1 and BRCA2 Testing through Next Generation Sequencing in a Small Cohort of Italian Breast/Ovarian Cancer Patients: Novel Pathogenic and Unknown Clinical Significance Variants.
Concolino Paola et al. International journal of molecular sciences 2019 Jul 20(14) - Actionable molecular alterations in advanced gynaecologic malignancies: updated results from the ProfiLER programme.
Varnier Romain et al. European journal of cancer (Oxford, England : 1990) 2019 Jul 118156-165
Chronic Disease
- Update on amyotrophic lateral sclerosis genetics.
Brenner David et al. Current opinion in neurology 2019 Jul - Machine learning to predict anti-TNF drug responses of rheumatoid arthritis patients by integrating clinical and genetic markers.
Guan Yuanfang et al. Arthritis & rheumatology (Hoboken, N.J.) 2019 Jul
Ethical, Legal and Social Issues (ELSI)
- FDA-ARGOS is a database with public quality-controlled reference genomes for diagnostic use and regulatory science.
Sichtig Heike et al. Nature communications 2019 Jul 10(1) 3313
General Practice
- Adverse Events in Genetic Testing: The Fourth Case Series.
Farmer Meagan B et al. Cancer journal (Sudbury, Mass.) 25(4) 231-236 - Consideration for Employer-Based and Geographic Attributes Included in Value Assessment Methods of Next-Generation Sequencing Tests.
Hart M Ragan et al. Journal of managed care & specialty pharmacy 2019 Aug 25(8) 936-940 - Checklist For Gene/Disease-Specific Variation Database Curators To Enable Ethical Data Management.
Ekong Rosemary et al. Human mutation 2019 Jul
Heart, Lung, Blood and Sleep Diseases
- Polygenic Risk Scores in Familial Hypercholesterolemia.
Rader Daniel J et al. Journal of the American College of Cardiology 2019 Jul 74(4) 523-525 - Pitfalls in interpretation of CFTR variants in the context of incidental findings.
Boussaroque Agathe et al. Human mutation 2019 Jul - Risk of Premature Atherosclerotic Disease in Patients With Monogenic Versus Polygenic Familial Hypercholesterolemia.
Trinder Mark et al. Journal of the American College of Cardiology 2019 Jul 74(4) 512-522 - Assessment of family physicians' awareness and knowledge of familial hypercholesterolemia in governmental hospitals in Riyadh, Saudi Arabia.
Arnous Maha Mohammed et al. Journal of family medicine and primary care 2019 Jun 8(6) 1981-1986 - Establishing and evaluating an auto-verification system of thalassemia gene detection results.
Lin Xiaozhe et al. Annals of hematology 2019 Aug 98(8) 1835-1844 - Sickle Cell Education: A Survey of Antenatal Healthcare Givers.
Aboagye Serwah et al. The American journal of tropical medicine and hygiene 2019 Jul - ACG Clinical Guideline: Hereditary Hemochromatosis.
Kowdley Kris V et al. The American journal of gastroenterology 2019 Jul - The diagnostic utility of targeted gene panel sequencing in discriminating etiologies of cytopenia.
Zheng Gang et al. American journal of hematology 2019 Jul - Clinical and laboratory outcomes following total or partial splenectomy in patients with hereditary spherocytosis.
Tripodi Serena I et al. Pediatric hematology and oncology 2019 Jul 1-8 - Utility of Repeat Testing in the Evaluation for von Willebrand Disease in Pediatric Patients.
Doshi Bhavya S et al. Journal of thrombosis and haemostasis : JTH 2019 Jul - Incidence of Cardiovascular Disease in Patients with Familial Hypercholesterolemia Phenotype: Analysis of 5 Years Follow-Up of Real-World Data from More than 1.5 Million Patients.
Masana Luís et al. Journal of clinical medicine 2019 Jul 8(7)
Newborn Screening
- Gamma-Hydroxybutyrate content in dried bloodspots facilitates newborn detection of succinic semialdehyde dehydrogenase deficiency.
Brown Madalyn et al. Molecular genetics and metabolism 2019 Jul
Pharmacogenomics
- Pharmacogenomics in clinical care.
Wysocki Kenneth et al. Journal of the American Association of Nurse Practitioners 2019 Jul
Reproductive Health
- Prenatal Genetic Considerations of Congenital Anomalies of the Kidney and Urinary Tract (CAKUT).
Talati Asha N et al. Prenatal diagnosis 2019 Jul - Multi-centre evaluation of a comprehensive preimplantation genetic test through haplotyping-by-sequencing.
Masset Heleen et al. Human reproduction (Oxford, England) 2019 Jul
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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