Publication Date: May 2, 2019
Human Genomics across the Lifespan
Birth Defects and Child Health
- Molecular diagnosis of patients affected by mucopolysaccharidosis: a multicenter study.
Zanetti Alessandra et al. European journal of pediatrics 2019 May 178(5) 739-753 - Targeted NGS Platforms for Genetic Screening and Gene Discovery in Primary Immunodeficiencies.
Cifaldi Cristina et al. Frontiers in immunology 2019 10316 - Cost-effectiveness of newborn screening for severe combined immunodeficiency.
Van der Ploeg Catharina P B et al. European journal of pediatrics 2019 May 178(5) 721-729 - Clinical and biochemical outcome of patients with very long-chain acyl-CoA dehydrogenase deficiency.
Rovelli Valentina et al. Molecular genetics and metabolism 2019 Apr - Autism Data Visualization Tool
Explore the information to see autism spectrum disorder (ASD) prevalence estimates and demographic characteristics at the national, state, and community levels.
Cancer
- Clinical significance of 21-gene recurrence score assay for hormone receptor-positive, lymph node-negative breast cancer in early stage.
Yu-Qing Yang et al. Experimental and molecular pathology 2019 Apr 108150-155 - Genomic testing in early stage invasive male breast cancer: An NCDB analysis from 2008 to 2014.
Dubrovsky Esther et al. The breast journal 2019 May 25(3) 425-433 - Complicated prognostic values of CCL28 in breast cancer by subtype.
Gong Di-He et al. Journal of thoracic disease 2019 Mar 11(3) 777-787 - The landscape of selection in 551 esophageal adenocarcinomas defines genomic biomarkers for the clinic.
Frankell Alexander M et al. Nature genetics 2019 51(3) 506-516 - Development and testing of the KnowGene scale to assess general cancer genetic knowledge related to multigene panel testing.
Underhill-Blazey Meghan et al. Patient education and counseling 2019 Apr - The Burden of Breast Cancer Predisposition Variants Across The Age Spectrum Among 10 000 Patients.
Chavarri-Guerra Yanin et al. Journal of the American Geriatrics Society 2019 May 67(5) 884-888 - Outcomes of universal germline testing for men with prostate cancer in an Australian tertiary center.
Crumbaker Megan et al. Asia-Pacific journal of clinical oncology 2019 Apr - Genomic and transcriptomic profiling expands precision cancer medicine: the WINTHER trial.
Rodon Jordi et al. Nature medicine 2019 Apr - Utility of ctDNA to support patient selection for early phase clinical trials: the TARGET study.
Rothwell Dominic G et al. Nature medicine 2019 Apr - Shared-patient physician networks and their impact on the uptake of genomic testing in breast cancer.
Rotter Jason et al. Breast cancer research and treatment 2019 Apr - Prospective colonoscopic study to investigate risk of colorectal neoplasms in first-degree relatives of patients with non-advanced adenomas.
Ng Siew C et al. Gut 2019 Apr - Multicenter optimization and validation of a 2-gene mRNA urine test for detection of clinically significant prostate cancer prior to initial prostate biopsy.
Haese Alexander et al. The Journal of urology 2019 Apr 101097JU0000000000000293 - Targeted Cancer Next Generation Sequencing as a Primary Screening Tool for Microsatellite Instability and Lynch Syndrome in Upper Gastrointestinal Tract Cancers.
Christakis Alexander G et al. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2019 Apr - A 17-Gene Genomic Prostate Score as a Predictor of Adverse Pathology for Men on Active Surveillance.
Kornberg Zachary et al. The Journal of urology 2019 Apr 101097JU0000000000000290 - Distribution and Short-term Prognostic Value of the 21-gene recurrence score in African American compared to White American breast cancer patients.
Amro Ali et al. The breast journal 2019 Apr - Acquired HER2 mutations in ER + metastatic breast cancer confer resistance to estrogen receptor-directed therapies.
Nayar Utthara et al. Nature genetics 2019 51(2) 207-216 - Effect of chromoendoscopy in the proximal colon on colorectal neoplasia detection in Lynch syndrome: a multicenter randomized controlled trial.
Haanstra Jasmijn F et al. Gastrointestinal endoscopy 2019 Apr
Chronic Disease
- Toward personalized cognitive diagnostics of at-genetic-risk Alzheimer's disease.
Coughlan Gillian et al. Proceedings of the National Academy of Sciences of the United States of America 2019 Apr - Value of renal gene panel diagnostics in adults waiting for kidney transplantation due to undetermined end-stage renal disease.
Ottlewski Isabel et al. Kidney international 2019 Mar - Health and lifestyle behaviors in colorectal cancer survivors with and without Lynch syndrome.
Donato Kirsten M et al. Journal of community genetics 2019 Apr
Ethical, Legal and Social Issues (ELSI)
- Current Controversies in Prenatal Diagnosis 3: Gene editing should replace embryo selection following PGD.
Wells Dagan et al. Prenatal diagnosis 2019 Apr 39(5) 344-350 - A Tale of Two Capacities: Including Children and Decisionally Vulnerable Adults in Biomedical Research.
Dalpé Gratien et al. Frontiers in genetics 2019 10289 - Public Involvement in Global Genomics Research: A Scoping Review.
Nunn Jack S et al. Frontiers in public health 2019 779
General Practice
- Precision Medicine for Clinicians: The Future Begins Now
L Goldman et al, Ann Int MEd, April 30, 2019
Heart, Lung, Blood and Sleep Diseases
- A Review on the Use of Cystic Fibrosis Transmembrane Conductance Regulator Gene Modulators in Pediatric Patients.
Bitonti Michael et al. Journal of pediatric health care : official publication of National Association of Pediatric Nurse Associates & Practitioners 33(3) 356-364 - The Transcriptomic Toolbox: Resources for Interpreting Large Gene Expression Data within a Precision Medicine Context for Metabolic Disease Atherosclerosis.
Marín de Evsikova Caralina et al. Journal of personalized medicine 2019 Apr 9(2) - Barriers and challenges faced by women with congenital bleeding disorders in Europe: Results of a patient survey conducted by the European Haemophilia Consortium.
Noone Declan et al. Haemophilia : the official journal of the World Federation of Hemophilia 2019 Apr - Optimization and application of a dried blood spot-based genetic screening method for thalassemia in Shenzhen newborns.
Wen Wei et al. World journal of pediatrics : WJP 2019 Apr - Polygenic Hypercholesterolemia and Cardiovascular Disease Risk.
Sharifi Mahtab et al. Current cardiology reports 2019 Apr 21(6) 43 - Beta Thalassemia: Monitoring and New Treatment Approaches.
Khandros Eugene et al. Hematology/oncology clinics of North America 2019 Jun 33(3) 339-353 - von Willebrand Disease in Pediatrics: Evaluation and Management.
O'Brien Sarah H et al. Hematology/oncology clinics of North America 2019 Jun 33(3) 425-438 - Inherited Platelet Disorders: A Modern Approach to Evaluation and Treatment.
Lambert Michele P et al. Hematology/oncology clinics of North America 2019 Jun 33(3) 471-487 - Rare Hereditary Hemolytic Anemias: Diagnostic Approach and Considerations in Management.
Risinger Mary et al. Hematology/oncology clinics of North America 2019 Jun 33(3) 373-392 - Ironing out unmet need in genetic haemochromatosis.
The Lancet Gastroenterology Hepatology et al. The lancet. Gastroenterology & hepatology 2019 4(1) 1
Newborn Screening
- ACOG Committee Opinion No. 778 Summary: Newborn Screening and the Role of the Obstetrician-Gynecologist.
et al. Obstetrics and gynecology 2019 May 133(5) 1073-1074 - ACOG Committee Opinion No. 778: Newborn Screening and the Role of the Obstetrician-Gynecologist.
et al. Obstetrics and gynecology 2019 May 133(5) e357-e361 - High frequency of non-classical congenital adrenal hyperplasia form among children with persistently elevated levels of 17-hydroxyprogesterone after newborn screening.
Castro Patrícia S et al. Journal of pediatric endocrinology & metabolism : JPEM 2019 Apr - The role of the NOD2/CARD15 gene in surgical treatment prediction in patients with Crohn's disease.
Kunovsky L et al. International journal of colorectal disease 2019 Feb 34(2) 347-351 - Newborn screening for SMA in Southern Belgium.
Boemer François et al. Neuromuscular disorders : NMD 2019 Feb - Case for genome sequencing in infants and children with rare, undiagnosed or genetic diseases.
Bick David et al. Journal of medical genetics 2019 Apr
Pharmacogenomics
- Precision medicine: a call for increased pharmacogenomic education.
Ta Richard et al. Personalized medicine 2019 Apr - Community pharmacists' educational needs for implementing clinical pharmacogenomic services.
Berenbrok Lucas A et al. Journal of the American Pharmacists Association : JAPhA 2019 Apr - Integrating Next-Generation Sequencing in the Clinical Pharmacogenomics Workflow.
Giannopoulou Efstathia et al. Frontiers in pharmacology 2019 10384 - A Nationwide Retrospective Observational Study Of Population Newborn Screening For Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency In The Netherlands.
Jager Emmalie A et al. Journal of inherited metabolic disease 2019 Apr
Reproductive Health
- Values and value conflicts in implementation and use of preconception expanded carrier screening - an expert interview study.
Matar Amal et al. BMC medical ethics 2019 Apr 20(1) 25 - Where are we going with gene screening for male infertility?
Thirumavalavan Nannan et al. Fertility and sterility 2019 May 111(5) 842-850 - Impact of introduction of non-invasive prenatal testing on uptake of genetic testing in fetuses with central nervous system anomalies.
Al Toukhi Samar et al. Prenatal diagnosis 2019 Apr - Validation of Extensive Next-Generation Sequencing Method for Monogenic Disorder Analysis on Cell Free Fetal DNA: Noninvasive Prenatal Diagnosis.
Dello Russo Claudio et al. The Journal of molecular diagnostics : JMD 2019 Apr - Validation of concurrent preimplantation genetic testing for polygenic and monogenic disorders, structural rearrangements, and whole and segmental chromosome aneuploidy with a single universal platform.
Treff Nathan R et al. European journal of medical genetics 2019 Apr - Can cell-free DNA testing be used in pregnancies with isolated fetal omphalocele? Preliminary evidence from cytogenetic results of prenatal cases.
Xu Li-Li 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 2019 Apr 1-11 - Development of a Novel Next-Generation Sequencing Assay for Carrier Screening in Old Order Amish and Mennonite Populations of Pennsylvania.
Crowgey Erin L et al. The Journal of molecular diagnostics : JMD 2019 Apr
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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