HLBS-PopOmics - Heart, Lung, Blood, and Sleep Disorders Knowledge Base in Population Genomics -

Specific PHGKB|HLBS|PHGKB

HLBS-PopOmics

- Heart, Lung, Blood, and Sleep Disorders Knowledge Base in Population Genomics -

What's New

Last Posted: Mar 22, 2018

---

• A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data.  
  Szot Justin O et al. Circulation. Genomic and precision medicine 2018 Mar 11(3) e001978
• Antigenically diverse swine-origin H1N1 variant influenza viruses exhibit differential ferret pathogenesis and transmission phenotypes.  
  Pulit-Penaloza Joanna A et al. Journal of virology 2018 Mar
• Beyond Gene Panels: Whole Exome Sequencing for Diagnosis of Congenital Heart Disease.  
  Paige Sharon L et al. Circulation. Genomic and precision medicine 2018 Mar 11(3) e002097
• Cardiac Genetic Predisposition in Sudden Infant Death Syndrome.  
  Tester David J et al. Journal of the American College of Cardiology 2018 Mar 71(11) 1217-1227
• Clinical application of targeted next-generation sequencing on fetuses with congenital heart defects.  
  Hu Ping et al. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2018 Mar
• Current Approaches for Phenotyping as a Target for Precision Medicine in COPD Management.  
  Lopez-Campos Jose Luis et al. COPD 2018 Mar 1-10
• Cystic fibrosis transmembrane conductance regulator modulators: precision medicine in cystic fibrosis.  
  Burgener Elizabeth B et al. Current opinion in pediatrics 2018 Mar
• Epidemiology and Molecular Identification and Characterization of Mycoplasma pneumoniae, South Africa, 2012-2015.  
  Carrim Maimuna et al. Emerging infectious diseases 2018 Mar 24(3) 506-513
• Functional Genomics Profiling of Bladder Urothelial Carcinoma MicroRNAome as a Potential Biomarker.  
  Li Wei Tse et al. Neoplasia (New York, N.Y.) 2018 Mar 20(4) 364-373
• Genetic basis of arrhythmogenic cardiomyopathy.  
  Karmouch Jennifer et al. Current opinion in cardiology 2018 Mar
• Hypercholesterolemia in children: Why and how to screen for it?  
  Girardet J-P et al. Archives de pediatrie : organe officiel de la Societe francaise de pediatrie 2018 Mar
• Nutritional Status the First Two Years of Life in Cystic Fibrosis Diagnosed by Newborn Screening.  
  Munck Anne et al. Journal of pediatric gastroenterology and nutrition 2018 Mar
• Opinion: No, FDA Didn’t Really Approve BRCA Test-Rather, the breast cancer mutation screen was classified as a type of medical device with obligations for the company to reduce risks to customers.  
  C Janssens, The Scientist, Mar 19, 2018
• Pharmacogenetic variants and vitamin K deficiency: a risk factor or trigger for fibrosing interstitial pneumonias?  
  Drent Marjolein et al. Current opinion in pulmonary medicine 2018 Mar
• Precision medicine screening using whole-genome sequencing and advanced imaging to identify disease risk in adults.  
  Perkins Bradley A et al. Proceedings of the National Academy of Sciences of the United States of America 2018 Mar