Publication Date: Nov 8, 2018
Human Genomics across the Lifespan
Birth Defects and Child Health
- Ten years of screening for congenital disorders of glycosylation in Argentina: case studies and pitfalls.
Asteggiano Carla Gabriela et al. Pediatric research 2018 Oct - Syndromic hearing loss molecular diagnosis: Application of massive parallel sequencing.
Soares de Lima Yasmin et al. Hearing research 2018 Oct 370181-188 - Growing identification of genetic aetiologies for neonatal-onset epilepsies: lessons from the Neonatal Seizure Registry.
Sandoval Karamian Amanda G et al. Acta paediatrica (Oslo, Norway : 1992) 2018 Nov - Enabling precision medicine in neonatology, an integrated repository for preterm birth research.
Sirota Marina et al. Scientific data 2018 Nov 5180219 - Clinical Utility of Reinterpreting Previously Reported Genomic Epilepsy Test Results for Pediatric Patients.
SoRelle Jeffrey A et al. JAMA pediatrics 2018 Nov e182302 - Parental Mosaicism in PAX6 Causes Intra-Familial Variability: Implications for Genetic Counseling of Congenital Aniridia and Microphthalmia.
Tarilonte María et al. Frontiers in genetics 2018 9479 - Practicalities of a reduced volume formulation of a C1-INH concentrate for the treatment of hereditary angioedema: real-life experience.
Dempster John et al. Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology 2018 1444 - Impacts for Children Living with Genetic Muscle Disorders and their Parents - Findings from a Population-Based Study.
Jones Kelly M et al. Journal of neuromuscular diseases 5(3) 341-352 - Spontaneous premature birth as a target of genomic research.
Hallman Mikko et al. Pediatric research 2018 Sep - Improved diagnostics by exome sequencing following raw data reevaluation by clinical geneticists involved in the medical care of the individuals tested.
Salmon Lina Basel et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Oct
Cancer
- Assessing copy number aberrations and copy neutral loss of heterozygosity across the genome as best practice: An evidence based review of clinical utility from the cancer genomics consortium (CGC) working group for myelodysplastic syndrome, myelodysplastic/myeloproliferative and myeloproliferative neoplasms.
Kanagal-Shamanna Rashmi et al. Cancer genetics 2018 Oct - Best serum biomarker combination for ovarian cancer classification.
Song Hye-Jeong et al. Biomedical engineering online 2018 Nov 17(Suppl 2) 152 - Analysis of outpatient HER2 testing in New York state using the statewide planning and research cooperative system.
Hefti Erik et al. Pharmacogenomics 2018 Nov - A multi-gene expression profile panel for predicting liver metastasis: An algorithmic approach.
Shah Kanisha et al. PloS one 2018 13(11) e0206400 - A comparative study of survival models for breast cancer prognostication revisited: the benefits of multi-gene models.
Grzadkowski Michal R et al. BMC bioinformatics 2018 Nov 19(1) 400 - Disparities in genetic services utilization in a random sample of young breast cancer survivors.
Nikolaidis Christos et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Nov - Breast Cancers With Magee Equation Score of Less Than 18, or 18-25 and Mitosis Score of 1, Do Not Require Oncotype DX Testing: A Value Study.
Bhargava Rohit et al. American journal of clinical pathology 2018 Nov - Gender-related differences in the association between concomitant amplification of AIB1 and HER2 and clinical outcomes in glioma patients.
Sui Fang et al. Pathology, research and practice 2018 Sep 214(9) 1253-1259 - Oncogenic miR-663a is associated with cellular function and poor prognosis in renal cell carcinoma.
Zhou Liang et al. Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie 2018 Sep 1051155-1163 - Comparison of the Prognostic Utility of the Cell Cycle Progression Score for Predicting Clinical Outcomes in African American and Non-African American Men with Localized Prostate Cancer.
Canter Daniel J et al. European urology 2018 Oct - Risks of Colorectal Cancer and Cancer-Related Mortality in Familial Colorectal Cancer Type X and Lynch Syndrome Families.
Choi Yun-Hee et al. Journal of the National Cancer Institute 2018 Oct - Community clinical practice patterns and mortality in patients with intermediate oncotype DX recurrence scores: Who benefits from chemotherapy?
Ibraheem Abiola F et al. Cancer 2018 Nov - Clinical Utility of Chromosome Genomic Array Testing for Unclassified and Advanced-Stage Renal Cell Carcinomas.
Andeen Nicole K et al. Archives of pathology & laboratory medicine 2018 Nov - Methylation panel is a diagnostic biomarker for Barrett's oesophagus in endoscopic biopsies and non-endoscopic cytology specimens.
Chettouh Hamza et al. Gut 2018 67(11) 1942-1949 - Circulating plasma microRNAs as potential biomarkers of non-small cell lung cancer obtained by high-throughput real-time PCR profiling.
Niu Yanqin et al. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2018 Oct
Chronic Disease
- Largest genome-wide association study for PTSD identifies genetic risk loci in European and African ancestries and implicates novel biological pathways
BioRXIV preprints, November 1, 2018 - The preferences of potential stakeholders in psychiatric genomic research regarding consent procedures and information delivery.
Sundby Anna et al. European psychiatry : the journal of the Association of European Psychiatrists 2018 Oct 5529-35 - Precision Healthcare of Type 2 Diabetic Patients Through Implementation of Haptoglobin Genotyping.
Bale Bradley F et al. Frontiers in cardiovascular medicine 2018 5141 - Risk perception before and after presymptomatic genetic testing for Huntington's disease: Not always what one might expect.
Stuttgen Kelsey et al. Molecular genetics & genomic medicine 2018 Nov - Results of Fabry Disease Screening in Male Pre-End Stage Renal Disease Patients with Unknown Etiology Found Through the Platform of a Chronic Kidney Disease Education Program in a Northern Taiwan Medical Center.
Lin Cheng-Jui et al. Kidney & blood pressure research 2018 43(5) 1636-1645
Ethical, Legal and Social Issues (ELSI)
- Food and Drug Administration's regulatory shift on direct-to-consumer genetic tests for cancer risk.
Yang Y Tony et al. Cancer 2018 Nov - Will precision medicine be available for all patients in the near future?
Gómez René Maximiliano et al. Current opinion in allergy and clinical immunology 2018 Nov
General Practice
- The Return of Actionable Variants Empirical (RAVE) Study, a Mayo Clinic Genomic Medicine Implementation Study: Design and Initial Results.
Kullo Iftikhar J et al. Mayo Clinic proceedings 2018 Nov 93(11) 1600-1610 - Genetic Analysis of 400 Patients Refines Understanding and Implicates a New Gene in Atypical Hemolytic Uremic Syndrome.
Bu Fengxiao et al. Journal of the American Society of Nephrology : JASN 2018 Oct - Knowledge, motivations, expectations, and traits of an African, African-American, and Afro-Caribbean sequencing cohort and comparisons to the original ClinSeq ® cohort.
Lewis Katie L et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Nov - Striving for Precision: Enhancing Genetic Competency in Primary Care Nurse Practitioner Students.
Sloand Elizabeth et al. The Journal of nursing education 2018 Nov 57(11) 690-693 - Precision behavioral medicine: Implications of genetic and genomic discoveries for behavioral weight loss treatment.
McCaffery Jeanne M et al. The American psychologist 2018 Nov 73(8) 1045-1055
Heart, Lung, Blood and Sleep Diseases
- Familial Hypercholesterolemia: Clinician and Patient Insights
American College of Cardiology, October 2018 - Familial Hypercholesterolemia: The Most Frequent Cholesterol Metabolism Disorder Caused Disease.
Benito-Vicente Asier et al. International journal of molecular sciences 2018 Nov 19(11) - The importance of genetics and genetic counselors in the evaluation of patients with bicuspid aortic valve and aortopathy.
Miller Rebecca L et al. Current opinion in cardiology 2018 Nov - A personalized approach to long QT syndrome.
Etheridge Susan Payne et al. Current opinion in cardiology 2018 Nov - Perspectives on current recommendations for genetic testing in HCM.
Monserrat Lorenzo et al. Global cardiology science & practice 2018 Aug 2018(3) 23 - The genetics of hypertrophic cardiomyopathy.
Akhtar Mohammed et al. Global cardiology science & practice 2018 Aug 2018(3) 36 - Clinical whole exome sequencing in severe hypertriglyceridemia.
Tada Hayato et al. Clinica chimica acta; international journal of clinical chemistry 2018 Oct 48831-39
Newborn Screening
- Foundation of the Newborn Screening Translational Research Network and its tools for research.
Lloyd-Puryear Michele et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Nov
Pharmacogenomics
- Pharmacogenetics to prevent heparin-induced thrombocytopenia: what do we know?
Karnes Jason H et al. Pharmacogenomics 2018 Nov - The use of pharmacogenetic testing in patients with schizophrenia or bipolar disorder: A systematic review.
Routhieaux Melanie et al. The mental health clinician 2018 Nov 8(6) 294-302 - Cost-Effectiveness of a Pharmacogenetic Test to Guide Treatment for Major Depressive Disorder.
Groessl Erik J et al. Journal of managed care & specialty pharmacy 2018 Aug 24(8) 726-734 - Utility of human leukocyte antigen-B*58: 01 genotyping and patient outcomes.
Ke Ching-Hua et al. Pharmacogenetics and genomics 2018 Oct
Reproductive Health
- Benefits, challenges and ethical principles associated with implementing noninvasive prenatal testing: a Delphi study.
Dupras Charles et al. CMAJ open 6(4) E513-E519
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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