Published on 02/16/2017
Human Genomics across the Lifespan
Birth Defects and Child Health
-
Parents' Attitudes toward Genetic Testing of Children for Health Conditions: A Systematic Review.
Lim Qishan et al. Clinical genetics 2017 Feb -
FDA approves drug to treat Duchenne muscular dystrophy
Reuters Health, February 9, 2017 -
Researchers find genetic cause of new type of muscular dystrophy
Medical Xpress, February 9, 2017
Cancer
-
Telomere Length and Breast Cancer Prognosis: A Systematic Review.
Ennour-Idrissi Kaoutar et al. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2017 Jan 26(1) 3-10 -
Genetic Studies on Polycystic Ovary Syndrome.
Zhao Han et al. Best practice & research. Clinical obstetrics & gynaecology 2016 Nov 3756-65 -
Six Serum-Based miRNAs as Potential Diagnostic Biomarkers for Gastric Cancer.
Huang Zebo et al. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2017 Feb 26(2) 188-196 -
Racial disparities in BRCA testing and cancer risk management across a population-based sample of young breast cancer survivors.
Cragun Deborah et al. Cancer 2017 Feb -
Genome-Wide Association Studies for Polycystic Ovary Syndrome.
Liu Hongbin et al. Seminars in reproductive medicine 2016 Jul 34(4) 224-9 -
Genetic determinants of polycystic ovary syndrome: progress and future directions.
Jones Michelle R et al. Fertility and sterility 2016 Jul 106(1) 25-32 -
Surveillance of patients with hereditary gastrointestinal cancer syndromes.
Moreira Leticia et al. Best practice & research. Clinical gastroenterology 2016 Dec 30(6) 923-935 -
Genetic predisposition to gastric cancer.
Petrovchich Iva et al. Seminars in oncology 2016 Oct 43(5) 554-559 -
Implementing Genome-Driven Oncology.
Hyman David M et al. Cell 2017 Feb 168(4) 584-599 -
Primary, Adaptive, and Acquired Resistance to Cancer Immunotherapy.
Sharma Padmanee et al. Cell 2017 Feb 168(4) 707-723 -
Family History in Colonoscopy Patients: Feasibility and Performance of Electronic and Paper-based Surveys for Colorectal Cancer Risk Assessment in the Outpatient Setting.
Guivatchian Tannaz et al. Gastrointestinal endoscopy 2017 Feb -
Universal screening for Lynch syndrome among patients with colorectal cancer: patient perspectives on screening and sharing results with at-risk relatives.
Hunter Jessica Ezzell et al. Familial cancer 2017 Feb -
The association between prognosis of breast cancer and first-degree family history of breast or ovarian cancer: a systematic review and meta-analysis.
Song Jun-Long et al. Familial cancer 2017 Feb -
Change in Breast Cancer Screening Intervals Since the 2009 USPSTF Guideline.
Wernli Karen J et al. Journal of women's health (2002) 2017 Feb -
Rapid and cost-effective high-throughput sequencing for identification of germline mutations of BRCA1 and BRCA2.
Ahmadloo Somayeh et al. Journal of human genetics 2017 Feb -
Molecular Biomarkers for the Evaluation of Colorectal Cancer: Guideline From the American Society for Clinical Pathology, College of American Pathologists, Association for Molecular Pathology, and American Society of Clinical Oncology.
Sepulveda Antonia R et al. The Journal of molecular diagnostics : JMD 2017 Mar 19(2) 187-225 -
Impact of country of birth on genetic testing of metastatic lung adenocarcinomas in France: African women exhibit a mutational spectrum more similar to Asians than to Caucasians.
Saffroy Raphael et al. Oncotarget 2017 Feb -
Use of multigene-panel identifies pathogenic variants in several CRC-predisposing genes in patients previously tested for Lynch Syndrome.
Hansen Maren F et al. Clinical genetics 2017 Feb -
Clinical applicability and cost of a 46-gene panel for genomic analysis of solid tumours: Retrospective validation and prospective audit in the UK National Health Service.
Hamblin Angela et al. PLoS medicine 2017 Feb 14(2) e1002230 -
Telomeres in cancer: tumour suppression and genome instability.
Maciejowski John et al. Nature reviews. Molecular cell biology 2017 -
New blood biopsies with experimental device may improve cancer diagnosis and follow-up
Science Magazine, February 13, 2017 -
What happens when a man gets breast cancer
The Star, February 11, 2017
Chronic Disease
-
The genetic background of inflammatory bowel disease: from correlation to causality.
Uniken Venema Werna Tc et al. The Journal of pathology 2017 Jan 241(2) 146-158 -
Gene discovery in amyotrophic lateral sclerosis: implications for clinical management.
Al-Chalabi Ammar et al. Nature reviews. Neurology 2017 Feb 13(2) 96-104 -
Genetics insight into the amyotrophic lateral sclerosis/frontotemporal dementia spectrum.
Ji Ai-Ling et al. Journal of medical genetics 2017 Jan -
Screening of female family members of von Willebrand disease patients: utility of a modified screening tool in a high-risk population.
Faiz A S et al. Haemophilia : the official journal of the World Federation of Hemophilia 2017 Feb -
An observational study of the impact of genetic testing for pain perception in the clinical management of chronic non-cancer pain.
Sharma Maneesh et al. Journal of psychiatric research 2017 Jan 8965-72 -
ATSDRs ALS Registry Launches the ALS Biorepository
Practice
-
Mendelian Randomization as an Approach to Assess Causality Using Observational Data.
Sekula Peggy et al. Journal of the American Society of Nephrology : JASN 2016 Nov 27(11) 3253-3265 -
Ethicists advise caution in applying CRISPR gene editing to humans
J Achenbach, Washington Post, February 14, 2017 -
Are evidence standards different for genomic- vs. clinical-based precision medicine? - A quantitative analysis of individualized warfarin therapy.
Dhanda Devender S et al. Clinical pharmacology and therapeutics 2017 Feb -
How Genome Editing Could Enter Mainstream Medicine
Genomics Education Program, UK, February 13, 2017 -
Acknowledging and Overcoming Nonreproducibility in Basic and Preclinical Research.
Ioannidis John P A et al. JAMA 2017 Feb -
Overcoming hurdles in CRISPR gene editing to improve treatment
Science Magazine, February 7, 2017 -
US science advisers outline path to genetically modified babies
Sara Reardon, Nature News, February 14, 2017 -
Human Genome Editing: Science, Ethics, and Governance
National Academies Report, February 2017
Heart, Lung, Blood and Sleep Diseases
-
The role of registries and genetic databases in familial hypercholesterolemia.
Kindt Iris et al. Current opinion in lipidology 2017 Feb -
Cost-effectiveness of a cascade screening program for the early detection of familial hypercholesterolemia.
Lázaro Pablo, et al. Journal of clinical lipidology 0 0 0. (1) 260-271 -
A Valentine for You, from Cardiovascular Genetic Counselors
My Gene Counsel, February 9, 2017
Pharmacogenomics
-
Pharmacogenomics in epilepsy.
Balestrini Simona et al. Neuroscience letters 2017 Jan -
Epilepsy-associated genes.
Wang Jie et al. Seizure 2017 Jan 4411-20 -
Using Workflow Modeling to Identify Areas to Improve Genetic Test Processes in the University of Maryland Translational Pharmacogenomics Project.
Cutting Elizabeth M et al. AMIA ... Annual Symposium proceedings. AMIA Symposium 2015466-74 -
Precision medicine in genetic epilepsies: break of dawn?
Reif Philipp Sebastian et al. Expert review of neurotherapeutics 2016 Nov 1-12
Reproductive Health
-
"I think we've got too many tests!": Prenatal providers' reflections on ethical and clinical challenges in the practice integration of cell-free DNA screening.
Gammon B L et al. Ethics, medicine, and public health 2(3) 334-342