What's New

Last Posted: Jul 08, 2019

• Living with Muscular Dystrophy
  CDC, 2019
• Measles: Make Sure Your Child is Fully Immunized
  CDC, 2019
• Experimental gene therapy for hemophilia shows early promise
  D Garde, Stat News, July 5, 2019
• Genetic Characterization of Measles and Rubella Viruses Detected Through Global Measles and Rubella Elimination Surveillance, 2016-2018.
  Brown Kevin E et al. MMWR. Morbidity and mortality weekly report 2019 Jul (26) 587-591
• The Community Counts Data Visualization Tool
  CDC, 2019
• Identification of Fabry Disease in a Tertiary Referral Cohort of Patients with Hypertrophic Cardiomyopathy.
  Maron Martin S et al. The American journal of medicine 2018 131(2) 200.e1-200.e8
• Identifying patients with genetic predisposition to acute myeloid leukemia.
  Obrochta Ellyn et al. Best practice & research. Clinical haematology 2018 31(4) 373-378
• Impacts of EGFR-mutation status and EGFR-TKI on the efficacy of stereotactic radiosurgery for brain metastases from non-small cell lung adenocarcinoma: A retrospective analysis of 133 consecutive patients.
  Yomo Shoji et al. Lung cancer (Amsterdam, Netherlands) 2018 119120-126
• Automated Algorithms and Retinopathy of Prematurity Treatment
  WV Good, JAMA Ophthalmology, July 3, 2019
• Awareness and acceptability of population-based screening for pathogenic BRCA variants: Do race and ethnicity matter?
  Rubinsak Lisa A et al. Gynecologic oncology 2019 Jun
• BRCA germline mutation test for all woman with ovarian cancer?
  Paradiso A V et al. BMC cancer 2019 Jun 19(1) 641
• Differential Profile of BRCA1 vs. BRCA2 Mutated Families: A Characterization of the Main Differences and Similarities in Patients.
  Fernandes Gabriela Carvalho et al. Asian Pacific journal of cancer prevention : APJCP 2019 20(6) 1655-1660
• Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
  David Jan et al. Central European journal of public health 2019 Jun 27(2) 153-159
• Familial pancreatic cancer risk: a population-based study in Utah.
  Kohli Divyanshoo R et al. Journal of gastroenterology 2019 Jun
• Molecular Genetics of von Willebrand Disease in Korean Patients: Novel Variants and Limited Diagnostic Utility of Multiplex Ligation-Dependent Probe Amplification Analyses.
  Kim Hee Jung et al. Annals of laboratory medicine 2019 Nov 39(6) 545-551
• Novel pathogenic variants and multiple molecular diagnoses in neurodevelopmental disorders.
  Trinh Joanne et al. Journal of neurodevelopmental disorders 2019 Jun 11(1) 11
• Pathophysiology, diagnosis and management of peripartum cardiomyopathy: a position statement from the Heart Failure Association of the European Society of Cardiology Study Group on peripartum cardiomyopathy.
  Bauersachs Johann et al. European journal of heart failure 2019 Jun
• Screening for monogenic diabetes in primary care.
  Baldacchino Ian et al. Primary care diabetes 2019 Jun
• Current Knowledge of Germline Genetic Risk Factors for the Development of Non-Medullary Thyroid Cancer.
  Hincza Kinga et al. Genes 2019 Jun 10(7)
• De-duplicating patient records from three independent data sources reveals the incidence of rare neuromuscular disorders in Germany.
  König Kirsten et al. Orphanet journal of rare diseases 2019 Jun 14(1) 152