Genomics Journal Articles

• BRCA1 and BRCA2 Gene Mutations and Colorectal Cancer Risk A large meta-analysis finds that carriers of BRCA1 mutation have an increased risk of colorectal cancer.
  Journal of the National Cancer Institute, January 2019
• Diagnosis of Idiosyncratic Drug-induced Liver Injury Determining the culprit agent in idiosyncratic drug-induced liver injury can be challenging. Review currently available and proposed laboratory markers for DILI in this article.
  Liver International, January 2019
• Macrophage Activation Syndrome in Adults This article offers an update on the pathophysiology, diagnosis and treatment of macrophage activation syndrome associated with rheumatic disease.
  Rheumatology, January 2019
• Managing Acinetobacter baumannii Infections A. baumannii is commonly involved in nosocomial infections, but few therapeutic options are available. Find out what there is to know.
  Current Opinion in Infectious Diseases, January 2019
• Detection of HSV and VZV by Molecular Methods This study compared multiplex nucleic acid amplification tests that detect and differentiate herpes simplex virus and varicella-zoster virus with traditional virologic assays.
  American Journal of Clinical Pathology, January 2019
• Ethical Considerations in Neurogenetic Testing The complex nature of genetic testing, the potential risks and benefits, and the short and long-term consequences of genetic diagnoses raise important ethical issues for the neurologist.
  Seminars in Neurology, January 2019
• 18-Gene Signature for Predicting Relapse in Breast Cancer Prediction of metastasis risk for ER+/HER2- breast cancer is similar between a 10-year gene signature and commercial signatures.
  Breast Cancer Research, January 2019
• Next-Generation Sequencing Tests to Guide Cancer Treatment A survey finds that oncologists use NGS tests to guide decisions on management of refractory disease, eligibility for clinical trials, and off-label use of drugs.
  JCO Precision Oncology, January 2019
• Can Genetics Predict Risk for Sudden Cardiac Death? This commentary explores new approaches and advances in next-generation sequencing technology which may aid in understanding the predictive power of genetics for sudden cardiac death.
  European Heart Journal, January 2019
• Influenza-Specific Antibody Avidity in ART-Treated HIV A new study examined the sex differences relative to influenza-specific antibody avidity in ART-treated HIV.
  AIDS, January 2019
• Effect Sizes of Somatic Mutations in Cancer Determination of cancer effect size may be immediately useful for precision medicine tumor boards, design of clinical trials, and drug development.
  Journal of the National Cancer Institute, January 2019
• Familial Hypercholesterolemia and Risk of PAD and CKD Is there an increased risk of peripheral artery disease and chronic kidney disease among individuals with familial hypercholesterolemia?
  Journal of Clinical Endocrinology & Metabolism, January 2019
• Human Exposure to Novel Bartonella Species From Fruit Bats Can Bartonella infections occur among those who have had contact with fruit bats or bat flies?
  Emerging Infectious Diseases, December 2018
• Alopecia Areata: A Review of Disease Pathogenesis This article offers new insights into the pathophysiological mechanisms involved in the etiology of alopecia areata, an incurable autoimmune disorder.
  The British Journal of Dermatology, December 2018
• Prospective Study of Cancer Genetic Variants A study of an ethnically diverse cohort of nonbenign variants finds that variant reclassification differs by ancestry.
  Journal of the National Cancer Institute, December 2018
• Prediction Models in Primary Care for Rare Disease Diagnosis Incorporating electronic predictive models into primary care may be an effective strategy for the more timely diagnosis of rare rheumatic conditions.
  Rheumatology, December 2018
• Impairments in Cognitive Dysfunction in Schizophrenia Are deficits in selective attention, working memory, and executive function in persons with schizophrenia distinct impairments or different manifestations of one higher-order impairment?
  Schizophrenia Bulletin, December 2018
• Non-invasive Pre-implantation Genetic Testing of Embryos Genetic testing of cell-free embryonic DNA in blastocoel fluid may prove to be a viable non-invasive alternative to conventional biopsy-derived pre-implantation genetic testing.
  Human Reproduction, December 2018
• Medication Overuse Headache in Chronic Migraine Why are some chronic migraine patients more prone than others to relapse after structured withdrawal for medication overuse? This study explored psychosocial features that might contribute to relapse.
  Headache, December 2018
• Prevalence of Amyotrophic Lateral Sclerosis -- US, 2015 The prevalence data presented in this report aims to further our understanding of the epidemiology of ALS cases in the United States.
  Morbidity & Mortality Weekly Report, December 2018