Publication Date: May 7, 2020
Human Genomics across the Lifespan
Birth Defects and Child Health
- A scoping review and proposed workflow for multi-omic rare disease research.
Kerr Katie et al. Orphanet journal of rare diseases 2020 Apr 15(1) 107 - Health Related Quality of Life assessment among early-treated Hungarian adult PKU patients using the PKU-QOL adult questionnaire.
Barta András Gellért et al. Molecular genetics and metabolism reports 2020 Jun 23100589 - The utility of genome-wide cell-free DNA screening in the prenatal diagnosis of Pallister-Killian syndrome.
Chau Matthew Hoi Kin et al. Prenatal diagnosis 2020 Apr - Clinical and molecular features of children with Beckwith-Wiedemann syndrome in China: a single-center retrospective cohort study.
Wang Ruixue et al. Italian journal of pediatrics 2020 Apr 46(1) 55 - Randomized Clinical Trial of First-Line Genome Sequencing in Pediatric White Matter Disorders.
Vanderver Adeline et al. Annals of neurology 2020 Apr - Prevention methods for Treacher Collins syndrome: A systematic review.
Guo Peipei et al. International journal of pediatric otorhinolaryngology 2020 Apr 134110062 - The day-to-day experiences of caring for children with Osteogenesis Imperfecta: A qualitative descriptive study.
Castro Aimee R et al. Journal of clinical nursing 2020 Apr - Assessment of Interlaboratory Variation in the Interpretation of Genomic Test Results in Patients With Epilepsy.
SoRelle Jeffrey A et al. JAMA network open 2020 Apr 3(4) e203812 - The Autism Biomarkers Consortium for Clinical Trials (ABC-CT): Scientific Context, Study Design, and Progress Toward Biomarker Qualification.
McPartland James C et al. Frontiers in integrative neuroscience 2020 1416 - Parent Knowledge of Screening and Genetic Testing in Retinoblastoma.
Xiao Wei et al. Journal of ophthalmology 2020 20203839792
Cancer
- Mismatch repair deficiency and prognostic significance in patients with low-risk endometrioid endometrial cancers.
Kim Soyoun Rachel et al. International journal of gynecological cancer : official journal of the International Gynecological Cancer Society 2020 Apr - Clinical outcome of breast cancer in carriers of BRCA1 and BRCA2 mutations according to molecular subtypes.
Talhouet Solene De et al. Scientific reports 2020 Apr 10(1) 7073 - Legacy Genetic Testing Results for Cancer Susceptibility: How Common are Conflicting Classifications in a Large Variant Dataset from Multiple Practices?
Yin Kanhua et al. Annals of surgical oncology 2020 Apr - Analysis of metachronous colorectal neoplasms and survival following segmental or extended resection in patients with hereditary non-polyposis colorectal cancer.
Roh Seung Jae et al. International journal of colorectal disease 2020 Apr - The Clinical Relevance of Frequent Germline Genetic Variants Detected by Targeted Sequencing in Patients With Rectal Adenocarcinoma (READ).
Huang Kevin Chih-Yang et al. Cancer genomics & proteomics 17(3) 291-299 - Predictors of genetic testing uptake in newly diagnosed breast cancer patients.
Ladd Mary K et al. Journal of surgical oncology 2020 Apr - Health-related quality of life in patients with Multiple Endocrine Neoplasia type 1.
van Leeuwaarde Rachel S et al. Neuroendocrinology 2020 May - Spectrum of driver mutations and clinical impact of circulating tumor DNA analysis in non-small cell lung cancer: Analysis of over 8000 cases.
Mack Philip C et al. Cancer 2020 May - Novel Immune-Related Gene Signature for Risk Stratification and Prognosis of Survival in Lower-Grade Glioma.
Zhang Mingwei et al. Frontiers in genetics 2020 11363
Chronic Disease
- Identification of Candidate Genetic Markers and A Novel 4-Genes Diagnostic Model in Osteoarthritis Through Integrating Multiple Microarray Data.
Jiang Ai et al. Combinatorial chemistry & high throughput screening 2020 Apr - Blood-based analysis of 84 microRNAs identifies molecules deregulated in individuals with type-2 diabetes, risk factors for the disease or metabolic syndrome.
Avgeris Margaritis et al. Diabetes research and clinical practice 2020 Apr 108187 - Exome Sequencing and Identification of Phenocopies in Patients With Clinically Presumed Hereditary Nephropathies.
Riedhammer Korbinian M et al. American journal of kidney diseases : the official journal of the National Kidney Foundation 2020 Apr
Ethical, Legal and Social Issues (ELSI)
- Integrating Rules for Genomic Research, Clinical Care, Public Health Screening and DTC Testing: Creating Translational Law for Translational Genomics.
Wolf Susan M et al. The Journal of law, medicine & ethics : a journal of the American Society of Law, Medicine & Ethics 2020 Mar 48(1) 69-86 - From Genetics to Genomics: Facing the Liability Implications in Clinical Care.
Marchant Gary et al. The Journal of law, medicine & ethics : a journal of the American Society of Law, Medicine & Ethics 2020 Mar 48(1) 11-43 - Introduction: The Crucial Role of Law in Supporting Successful Translation of Genomics into Clinical Care.
Wolf Susan M et al. The Journal of law, medicine & ethics : a journal of the American Society of Law, Medicine & Ethics 2020 Mar 48(1) 7-10 - Protecting Participants in Genomic Research: Understanding the "Web of Protections" Afforded by Federal and State Law.
Wolf Leslie E et al. The Journal of law, medicine & ethics : a journal of the American Society of Law, Medicine & Ethics 2020 Mar 48(1) 126-141 - The Future of DTC Genomics and the Law.
Greely Henry T et al. The Journal of law, medicine & ethics : a journal of the American Society of Law, Medicine & Ethics 2020 Mar 48(1) 151-160 - The ethics of genetic testing for kidney diseases.
Sabatello Maya et al. Nature reviews. Nephrology 2020 May - Dynamic-informed consent: A potential solution for ethical dilemmas in population sequencing initiatives.
Dankar Fida K et al. Computational and structural biotechnology journal 2020 18913-921
General Practice
- Communicating genetic information to family members: analysis of consent forms for diagnostic genomic sequencing.
Phillips Amicia et al. European journal of human genetics : EJHG 2020 Apr - Returning Results in the Genomic Era: Initial Experiences of the eMERGE Network.
Wiesner Georgia L et al. Journal of personalized medicine 2020 Apr 10(2) - Rates of diagnostic genetic testing in a tertiary ocular genetics clinic.
Lowery R Scott et al. Ophthalmic genetics 2020 Apr 1-4 - Translating insights from neuropsychiatric genetics and genomics for precision psychiatry.
Rees Elliott et al. Genome medicine 2020 Apr 12(1) 43 - Low-Pass Genome Sequencing: Validation and Diagnostic Utility from 409 Clinical Cases of Low-Pass Genome Sequencing for the Detection of Copy Number Variants to Replace Constitutional Microarray.
Chaubey Alka et al. The Journal of molecular diagnostics : JMD 2020 Apr - Barriers and facilitators to dissemination and adoption of precision medicine among Hispanics/Latinos.
Canedo Juan R et al. BMC public health 2020 May 20(1) 603 - European citizens' perspectives on direct-to-consumer genetic testing: an updated systematic review.
Hoxhaj Ilda et al. European journal of public health 2020 May - Genetic testing costs and compliance with clinical best practices.
Montanez Kathleen et al. Journal of genetic counseling 2020 May
Heart, Lung, Blood and Sleep Diseases
- Association of Rare Pathogenic DNA Variants for Familial Hypercholesterolemia, Hereditary Breast and Ovarian Cancer Syndrome, and Lynch Syndrome With Disease Risk in Adults According to Family History.
Patel Aniruddh P et al. JAMA network open 2020 Apr 3(4) e203959 - Familial screening in case of acute myocarditis reveals inherited arrhythmogenic left ventricular cardiomyopathies.
Piriou Nicolas et al. ESC heart failure 2020 May - Precision medicine in distinct heart failure phenotypes: Focus on clinical epigenetics.
Napoli Claudio et al. American heart journal 2020 Mar 224113-128 - Gene panel for Mendelian strokes.
Fang Fang et al. Stroke and vascular neurology 2020 Apr - Microvasculopathy and biomarkers in sickle cell disease: the promise of non-invasive real-time in vivo tools.
Colombatti Raffaella et al. British journal of haematology 2020 Apr - Clinical features and accompanying findings of Pseudo-Bartter Syndrome in cystic fibrosis.
Sismanlar Eyuboglu Tugba et al. Pediatric pulmonology 2020 May - Hypertrophic cardiomyopathy in myosin-binding protein C ( MYBPC3 ) Icelandic founder mutation carriers.
Adalsteinsdottir Berglind et al. Open heart 2020 7(1) e001220 - Caring for Africa's sickle cell children: will we rise to the challenge?
Oron Assaf P et al. BMC medicine 2020 Apr 18(1) 92
Newborn Screening
- Pilot study for cystic fibrosis neonatal screening: the Cuban experience.
Castells Elisa M et al. Clinical chemistry and laboratory medicine 2020 Apr - Second Tier Molecular Genetic Testing in Newborn Screening for Pompe Disease: Landscape and Challenges.
Smith Laurie D et al. International journal of neonatal screening 2020 Jun 6(2)
Pharmacogenomics
- Genetic markers that could influence clinical decision making during treatment with methotrexate.
Esperon Patricia et al. Pharmacogenomics 2020 Apr - Study design of Dal-GenE, a pharmacogenetic trial targeting reduction of cardiovascular events with dalcetrapib.
Tardif Jean-Claude et al. American heart journal 2020 222157-165 - Predicted efficacy of a pharmacogenetic passport for inflammatory bowel disease.
Bangma Amber et al. Alimentary pharmacology & therapeutics 2020 May - Optimizing doxepin therapy in dermatology: Introducing blood level monitoring and genotype testing.
Myers Bridget et al. The Journal of dermatological treatment 2020 Apr 1-30
Reproductive Health
- Preimplantation Genetic Screening and The Success Rate of In Vitro Fertilization: A Three-Years Study on Iranian Population.
Totonchi Mehdi et al. Cell journal 2021 Jan 22(4) 467-475 - Novel PGD strategy based on single sperm linkage analysis for carriers of single gene pathogenic variant and chromosome reciprocal translocation.
Wang Yuqian et al. Journal of assisted reproduction and genetics 2020 Apr - Minimally Invasive Cell-Free Human Embryo Aneuploidy Testing (miPGT-A) Utilizing Combined Spent Embryo Culture Medium and Blastocoel Fluid -Towards Development of a Clinical Assay.
Kuznyetsov Valeriy et al. Scientific reports 2020 Apr 10(1) 7244 - Non-invasive prenatal diagnosis for pregnancies at risk for β-thalassemia: a retrospective study.
Lv Weigang et al. BJOG : an international journal of obstetrics and gynaecology 2020 May - Couples experiences of receiving uncertain results following prenatal microarray or exome sequencing; a mixed-methods systematic review.
Harding Eleanor et al. Prenatal diagnosis 2020 May
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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